{ "uniprot_canonical_ac": "O43826-1", "uniprot_ac": "O43826", "uniprot_id": "G6PT1_HUMAN", "mass": { "chemical_mass": 46360.0, "monoisotopic_mass": 46360.0 }, "refseq": { "ac": "NP_001157749", "name": "glucose-6-phosphate exchanger SLC37A4 isoform 1", "summary": "This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum. Mutations in this gene have been associated with various forms of glycogen storage disease. Alternative splicing in this gene results in multiple transcript variants.[provided by RefSeq, Aug 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157749" }, "gene_names": [ { "name": "SLC37A4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43826", "id": "O43826" }, { "name": "CDG2W; G6PT; G6PT1; G6PT2; G6PT3; GSD1b; GSD1c; GSD1d; PRO0685; SPX4; TRG-19; TRG19", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157749", "id": "NP_001157749" }, { "name": "G6PT1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43826", "id": "O43826" }, { "name": "G6PT", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43826", "id": "O43826" }, { "name": "PRO0685", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43826", "id": "O43826" }, { "name": "SLC37A4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157749", "id": "NP_001157749" }, { "name": "TRG19", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43826", "id": "O43826" } ], "protein_names": [ { "name": "Glucose-6-phosphate exchanger SLC37A4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43826" }, { "name": "Glucose-5-phosphate transporter", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43826" }, { "name": "Glucose-6-phosphate translocase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43826" }, { "name": "Solute carrier family 37 member 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43826" }, { "name": "TRG-19", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43826" }, { "name": "Transformation-related gene 19 protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43826" }, { "name": "glucose-6-phosphate exchanger SLC37A4 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157749", "id": "NP_001157749" }, { "name": "glucose-6-phosphate translocase; glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1; glucose-6-phosphatase, transport (phosphate/pyrophosphate) protein 2; glucose-6-phosphatase, transport (glucose) protein 3; microsomal glucose-6-phosphate transporter; glucose-5-phosphate transporter; transformation-related gene 19 protein; solute carrier family 37 (glucose-6-phosphate transporter), member 4; glucose-6-phosphate exchanger SLC37A4; glucose-6-phosphatase transporter; sugar-phosphate exchange protein 4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157749", "id": "NP_001157749" } ], "function": [ { "annotation": "A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.", "evidence": [ { "database": "RefSeq", "id": "NP_001157749", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157749" }, { "database": "PubMed", "id": "33964207", "url": "https://glygen.org/publication/PubMed/33964207" } ] }, { "annotation": "A novel SLC37A4 missense mutation in GSD-Ib without hepatomegaly causes enhanced leukocytes endoplasmic reticulum stress and apoptosis.", "evidence": [ { "database": "RefSeq", "id": "NP_001157749", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157749" }, { "database": "PubMed", "id": "33280276", "url": "https://glygen.org/publication/PubMed/33280276" } ] }, { "annotation": "Inorganic phosphate and glucose-6-phosphate antiporter of the endoplasmic reticulum. Transports cytoplasmic glucose-6-phosphate into the lumen of the endoplasmic reticulum and translocates inorganic phosphate into the opposite direction (PubMed:33964207). Forms with glucose-6-phosphatase the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it plays a central role in homeostatic regulation of blood glucose levels.", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826#function" }, { "database": "PubMed", "id": "10026167", "url": "https://glygen.org/publication/PubMed/10026167" }, { "database": "PubMed", "id": "21949678", "url": "https://glygen.org/publication/PubMed/21949678" }, { "database": "PubMed", "id": "33964207", "url": "https://glygen.org/publication/PubMed/33964207" } ] }, { "annotation": "This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum. Mutations in this gene have been associated with various forms of glycogen storage disease. Alternative splicing in this gene results in multiple transcript variants.[provided by RefSeq, Aug 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001157749", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157749" } ] }, { "annotation": "Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001157749", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157749" }, { "database": "PubMed", "id": "38087503", "url": "https://glygen.org/publication/PubMed/38087503" } ] } ], "disease": [ { "disease_id": "DOID:0081330", "recommended_name": { "id": "DOID:0081330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081330", "name": "glycogen storage disease Ib", "description": "A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23." }, "synonyms": [ { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "glycogen storage disease Ib", "description": "A type of glycogenosis due to G6P deficiency." }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "G6P deficiency type IB", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "G6P translocase deficiency", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "G6PT deficiency", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "GSD Ib", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "GSD due to G6P deficiency type IB", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "GSD due to G6PT deficiency", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "GSD type 1 non a", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "GSD type 1b", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "GSD type IB", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "GSD1B", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "GSDIb", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "glucose-6-phosphate transport defect", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "glycogen storage disease Ib", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "glycogen storage disease Ic", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "glycogen storage disease due to G6P deficiency type IB", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "glycogen storage disease type 1b", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "glycogen storage disease type I non-a", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "glycogen storage disease type IB", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "glycogen storage disease type Ic", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "glycogenosis due to glucose-6-phosphatase deficiency type 1B", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "glycogenosis due to glucose-6-phosphatase transport defect type IB", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "glycogenosis type 1b", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "glycogenosis type IB", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "GSD Ic", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "GSD1C", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "Gsd1C", "description": "" }, { "id": "MIM:232220", "resource": "MIM", "url": "https://www.omim.org/entry/232220", "name": "Glycogen storage disease 1B", "description": "Glycogen storage disease 1B" } ], "evidence": [ { "id": "0009288", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288" }, { "id": "232220", "database": "MIM", "url": "https://www.omim.org/entry/232220" } ] }, { "disease_id": "DOID:0081331", "recommended_name": { "id": "DOID:0081331", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081331", "name": "glycogen storage disease Ic", "description": "A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. G6PT1 is also the site of the defect in glycogen storage disease Ib." }, "synonyms": [ { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "glycogen storage disease Ib", "description": "A type of glycogenosis due to G6P deficiency." }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "G6P deficiency type IB", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "G6P translocase deficiency", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "G6PT deficiency", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "GSD Ib", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "GSD due to G6P deficiency type IB", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "GSD due to G6PT deficiency", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "GSD type 1 non a", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "GSD type 1b", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "GSD type IB", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "GSD1B", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "GSDIb", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "glucose-6-phosphate transport defect", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "glycogen storage disease Ib", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "glycogen storage disease Ic", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "glycogen storage disease due to G6P deficiency type IB", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "glycogen storage disease type 1b", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "glycogen storage disease type I non-a", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "glycogen storage disease type IB", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "glycogen storage disease type Ic", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "glycogenosis due to glucose-6-phosphatase deficiency type 1B", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "glycogenosis due to glucose-6-phosphatase transport defect type IB", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "glycogenosis type 1b", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "glycogenosis type IB", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "GSD Ic", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "GSD1C", "description": "" }, { "id": "MONDO:0009288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009288", "name": "Gsd1C", "description": "" }, { "id": "MIM:232240", "resource": "MIM", "url": "https://www.omim.org/entry/232240", "name": "Glycogen storage disease 1C", "description": "Glycogen storage disease 1C" } ], "evidence": [ { "id": "232240", "database": "MIM", "url": "https://www.omim.org/entry/232240" } ] }, { "disease_id": "MONDO:0030437", "recommended_name": { "id": "MONDO:0030437", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030437", "name": "congenital disorder of glycosylation, type IIw", "description": "" }, "synonyms": [ { "id": "MONDO:0030437", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030437", "name": "CDG2W", "description": "" }, { "id": "MIM:619525", "resource": "MIM", "url": "https://www.omim.org/entry/619525", "name": "Congenital disorder of glycosylation 2W", "description": "Congenital disorder of glycosylation 2W" } ], "evidence": [ { "id": "619525", "database": "MIM", "url": "https://www.omim.org/entry/619525" }, { "id": "SLC37A4", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/SLC37A4/#!details" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "94.83", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000137700", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137700" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "67.05", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000137700", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137700" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "84.68", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000137700", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137700" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "81.56", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000137700", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137700" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "82.2", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000137700", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137700" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "93.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000137700", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137700" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "82.17", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000137700", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137700" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "76.24", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000137700", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137700" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "82.21", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000137700", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137700" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "72.07", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000137700", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137700" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "95.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000137700", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137700" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "89.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000137700", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137700" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "82.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000137700", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137700" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43826", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43826" } ], "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": "O43826", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43826" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O43826", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43826" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O43826", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43826" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O43826", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43826" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O43826", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43826" } ], "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": "O43826", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43826" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O43826", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43826" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O43826", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43826" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O43826", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43826" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O43826", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43826" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O43826", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43826" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "common_name": "Human" } ], "gene": [ { "name": "SLC37A4", "url": "https://www.uniprot.org/uniprot/O43826", "locus": { "chromosome": "11", "start_pos": 119023751, "end_pos": 119030906, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000137700", "url": "https://www.ensembl.org/id/ENSG00000137700" } ] } } ], "crossref": [ { "id": "ENSG00000137700", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137700", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd17343", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd17343", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL3217398", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL3217398", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "SLC37A4", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC37A4", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "2542", "url": "https://www.ncbi.nlm.nih.gov/gene/2542", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "4061", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4061", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O43826", "url": "https://www.ebi.ac.uk/intact/interactors/id:O43826*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000849", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000849", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011701", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011701", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR020846", "url": "https://www.ebi.ac.uk/interpro/entry/IPR020846", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR021159", "url": "https://www.ebi.ac.uk/interpro/entry/IPR021159", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036259", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036259", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:2542", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2542", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "232220", "url": "http://www.omim.org/entry/232220", "database": "MIM", "categories": [ "Other" ] }, { "id": "232240", "url": "http://www.omim.org/entry/232240", "database": "MIM", "categories": [ "Other" ] }, { "id": "602671", "url": "http://www.omim.org/entry/602671", "database": "MIM", "categories": [ "Other" ] }, { "id": "619525", "url": "http://www.omim.org/entry/619525", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O43826", "url": "https://www.nextprot.org/entry/NX_O43826", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "NAWFQGW", "url": "https://omabrowser.org/oma/group/NAWFQGW/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "130766at2759", "url": "http://www.orthodb.org/?query=130766at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR43826", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43826", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR43826:SF3", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43826:SF3", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF07690", "url": "http://pfam.xfam.org/family/PF07690", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O43826", "url": "https://pharos.nih.gov/targets/O43826", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O43826", "url": "http://purl.obolibrary.org/obo/PR_O43826", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-3229133", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3229133", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001157749", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157749", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "71535", "url": "https://www.rhea-db.org/rhea/71535", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43826-1", "url": "https://www.uniprot.org/uniprot/O43826-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43826-2", "url": "https://www.uniprot.org/uniprot/O43826-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "U3KPU7", "url": "https://www.uniprot.org/uniprot/U3KPU7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "U3KPU7-1", "url": "https://www.uniprot.org/uniprot/U3KPU7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "U3KQL4", "url": "https://www.uniprot.org/uniprot/U3KQL4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "U3KQL4-1", "url": "https://www.uniprot.org/uniprot/U3KQL4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "U3KQS2", "url": "https://www.uniprot.org/uniprot/U3KQS2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "U3KQS2-1", "url": "https://www.uniprot.org/uniprot/U3KQS2-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAAQGYGYYRTVIFSAMFGGYSLYYFNRKTFSFVMPSLVEEIPLDKDDLGFITSSQSAAYAISKFVSGVLSDQMSARWLFSSGLLLVGLVNIFFAWSSTVPVFAALWFLNGLAQGLGWPPCGKVLRKWFEPSQFGTWWAILSTSMNLAGGLGPILATILAQSYSWRSTLALSGALCVVVSFLCLLLIHNEPADVGLRNLDPMPSEGKKGSLKEESTLQELLLSPYLWVLSTGYLVVFGVKTCCTDWGQFFLIQEKGQSALVGSSYMSALEVGGLVGSIAAGYLSDRAMAKAGLSNYGNPRHGLLLFMMAGMTVSMYLFRVTVTSDSPKLWILVLGAVFGFSSYGPIALFGVIANESAPPNLCGTSHAIVGLMANVGGFLAGLPFSTIAKHYSWSTAFWVAEVICAASTAAFFLLRNIRTKMGRVSKKAE", "length": 429, "header": "sp|O43826-1|G6PT1_HUMAN Isoform 1 of Glucose-6-phosphate exchanger SLC37A4 OS=Homo sapiens OX=9606 GN=SLC37A4 PE=1 SV=1 CANONICAL=O43826-1" }, "isoforms": [ { "isoform_ac": "O43826-1", "url": "", "sequence": { "sequence": "MAAQGYGYYRTVIFSAMFGGYSLYYFNRKTFSFVMPSLVEEIPLDKDDLGFITSSQSAAYAISKFVSGVLSDQMSARWLFSSGLLLVGLVNIFFAWSSTVPVFAALWFLNGLAQGLGWPPCGKVLRKWFEPSQFGTWWAILSTSMNLAGGLGPILATILAQSYSWRSTLALSGALCVVVSFLCLLLIHNEPADVGLRNLDPMPSEGKKGSLKEESTLQELLLSPYLWVLSTGYLVVFGVKTCCTDWGQFFLIQEKGQSALVGSSYMSALEVGGLVGSIAAGYLSDRAMAKAGLSNYGNPRHGLLLFMMAGMTVSMYLFRVTVTSDSPKLWILVLGAVFGFSSYGPIALFGVIANESAPPNLCGTSHAIVGLMANVGGFLAGLPFSTIAKHYSWSTAFWVAEVICAASTAAFFLLRNIRTKMGRVSKKAE", "length": 429, "header": "sp|O43826-1|G6PT1_HUMAN Isoform 1 of Glucose-6-phosphate exchanger SLC37A4 OS=Homo sapiens OX=9606 GN=SLC37A4 PE=1 SV=1 CANONICAL=O43826-1" }, "locus": { "chromosome": "HG2217_PATCH", "start_pos": 50968, "end_pos": 46513, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000642844.2", "url": "https://www.ensembl.org/id/ENST00000642844.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000493469.1", "url": "https://www.ensembl.org/id/ENSP00000493469.1" } ] } }, { "isoform_ac": "O43826-2", "url": "", "sequence": { "sequence": "MAAQGYGYYRTVIFSAMFGGYSLYYFNRKTFSFVMPSLVEEIPLDKDDLGFITSSQSAAYAISKFVSGVLSDQMSARWLFSSGLLLVGLVNIFFAWSSTVPVFAALWFLNGLAQGLGWPPCGKVLRKWFEPSQFGTWWAILSTSMNLAGGLGPILATILAQSYSWRSTLALSGALCVVVSFLCLLLIHNEPADVGLRNLDPMPSEGKKGSLKEESTLQELLLSPYLWVLSTGYLVVFGVKTCCTDWGQFFLIQEKGQSALVGSSYMSALEVGGLVGSIAAGYLSDRAMAKAGLSNYGNPRHGLLLFMMAGMTVSMYLFRVTVTSDSPKDVAFWTLALHPLAELTGFTEHELWILVLGAVFGFSSYGPIALFGVIANESAPPNLCGTSHAIVGLMANVGGFLAGLPFSTIAKHYSWSTAFWVAEVICAASTAAFFLLRNIRTKMGRVSKKAE", "length": 451, "header": "sp|O43826-2|G6PT1_HUMAN Isoform 2 of Glucose-6-phosphate exchanger SLC37A4 OS=Homo sapiens OX=9606 GN=SLC37A4 PE=1 SV=1 CANONICAL=O43826-1" }, "locus": { "chromosome": "HG2217_PATCH", "start_pos": 50968, "end_pos": 46513, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000710545.1", "url": "https://www.ensembl.org/id/ENST00000710545.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000518336.1", "url": "https://www.ensembl.org/id/ENSP00000518336.1" } ] } }, { "isoform_ac": "U3KPU7-1", "url": "", "sequence": { "sequence": "MAAQGYGYYRTVIFSAMFGGYSLYYFNRKTFSFVMPSLVEEIPLDKDDLGFITSSQSAAYAISKFVSGVLSDQMSARWLFSSGLLLVGLVNIFFAWSSTVPVFAALWFLNGLAQGLGWPPCGKVLRKWFEPSQFGTWWAILSTSMNLAGGLGPILATILAQSYSWRSTLALSGALWVVVSFLCLLLIHNEPADVGLRNLDPMPSEGKKGSLKEESTLQELLLSPYLWVLSTGYLVVFGVKTCCTDWGQFFLIQEKGQSALVGSSYMSALEVGGLVGSIAAGYLSDRAMAKAGLSNYGNPRHGLLLFMMAGMTVSMYLFRVTVTSDSPKLWILVLGAVFGFSSYGPIALFGVIANESAPPNLCGTSHAIVGLMANVGGFLAGLPFSTIAKHYSWSTAFWVAEVICAASTAAFFLLRNIRTKMGRVSKKAE", "length": 429, "header": "tr|U3KPU7-1|U3KPU7_HUMAN Computationally mapped isoform of Solute carrier family 37 member 4 OS=Homo sapiens OX=9606 GN=SLC37A4 PE=1 SV=2 CANONICAL=O43826-1" }, "locus": { "chromosome": "11", "start_pos": 119029369, "end_pos": 119024913, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000545985.5", "url": "https://www.ensembl.org/id/ENST00000545985.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000475241.2", "url": "https://www.ensembl.org/id/ENSP00000475241.2" } ] } }, { "isoform_ac": "U3KQL4-1", "url": "", "sequence": { "sequence": "MSARWLFSSGLLLVGLVNIFFAWSSTVPVFAALWFLNGLAQGLGWPPCGKVLRKWFEPSQFGTWWAILSTSMNLAGGLGPILATILAQSYSWRSTLALSGALWVVVSFLCLLLIHNEPADVGLRNLDPMPSEGKKGSLKEESTLQELLLSPYLWVLSTGYLVVFGVKTCCTDWGQFFLIQEKGQSALVGSSYMSALEVGGLVGSIAAGYLSDRAMAKAGLSNYGNPRHGLLLFMMAGMTVSMYLFRVTVTSDSPKLWILVLGAVFGFSSYGPIALFGVIANESAPPNLCGTSHAIVGLMANVGGFLAGLPFSTIAKHYSWSTAFWVAEVICAASTAAFFLLRNIRTKMGRVSKKAE", "length": 356, "header": "tr|U3KQL4-1|U3KQL4_HUMAN Computationally mapped isoform of Solute carrier family 37 member 4 OS=Homo sapiens OX=9606 GN=SLC37A4 PE=1 SV=2 CANONICAL=O43826-1" }, "locus": { "chromosome": "11", "start_pos": 119028355, "end_pos": 119024913, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000538950.5", "url": "https://www.ensembl.org/id/ENST00000538950.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000475991.2", "url": "https://www.ensembl.org/id/ENSP00000475991.2" } ] } }, { "isoform_ac": "U3KQS2-1", "url": "", "sequence": { "sequence": "MAAQGYGYYRTVIFSAMFGGYSLYYFNRKTFSFVMPSLVEEIPLDKDDLGFITSSQSAAYAISKFVSGVLSDQMSARWLFSSGLLLVGLVNIFFAWSSTVPVFAALWFLNGLAQGLGWPPCGKVLRKWFEPSQFGTWWAILSTSMNLAGGLGPILATILAQSYSWRSTLALSGALWVVVSFLCLLLIHNEPADVGLRNLDPMPSEGKKGSLKEESTLQELLLSPYLWVLSTGYLVVFGVKTCCTDWGQFFLIQEKGQSALVGSSYMSALEVGGLVGSIAAGYLSDRAMAKAGLSNYGNPRHGLLLFMMAGMTVSMYLFRVTVTSDSPKDVAFWTLALHPLAELTGFTEHELWILVLGAVFGFSSYGPIALFGVIANESAPPNLCGTSHAIVGLMANVGGFLAGLPFSTIAKHYSWSTAFWVAEVICAASTAAFFLLRNIRTKMGRVSKKAE", "length": 451, "header": "tr|U3KQS2-1|G6PT1_HUMAN Computationally mapped isoform of Glucose-6-phosphate exchanger SLC37A4 OS=Homo sapiens OX=9606 GN=SLC37A4 PE=1 SV=2 CANONICAL=O43826-1" }, "locus": { "chromosome": "11", "start_pos": 119029369, "end_pos": 119024913, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000357590.9", "url": "https://www.ensembl.org/id/ENST00000357590.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000476176.2", "url": "https://www.ensembl.org/id/ENSP00000476176.2" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 419, "end_pos": 419, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43826", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43826" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Thr419" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Structure of the gene mutated in glycogen storage disease type Ib.", "journal": "Gene", "date": "1999", "authors": "Gerin I, Veiga-da-Cunha M, No\u00ebl G, Van Schaftingen E", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "reference": [ { "type": "PubMed", "id": "10023055", "url": "https://glygen.org/publication/PubMed/10023055" } ] }, { "title": "Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Hiraiwa H, Pan CJ, Lin B, Moses SW, Chou JY", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "reference": [ { "type": "PubMed", "id": "10026167", "url": "https://glygen.org/publication/PubMed/10026167" } ] }, { "title": "Structure, function and regulation of pyruvate carboxylase.", "journal": "The Biochemical journal", "date": "1999", "authors": "Jitrapakdee S, Wallace JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "10229653", "url": "https://glygen.org/publication/PubMed/10229653" } ] }, { "title": "Molecular diagnosis of type 1c glycogen storage disease.", "journal": "Hum. Genet.", "date": "1999", "authors": "Janecke A R, Bosshard N U, Mayatepek E, Schulze A, Gitzelmann R, Burchell A, Bartram C R, Janssen B", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "reference": [ { "type": "PubMed", "id": "10323254", "url": "https://glygen.org/publication/PubMed/10323254" } ] }, { "title": "The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.", "journal": "Nature genetics", "date": "1999", "authors": "Kobayashi K, Sinasac DS, Iijima M, Boright AP, Begum L, Lee JR, Yasuda T, Ikeda S, Hirano R, Terazono H, Crackower MA, Kondo I, Tsui LC, Scherer SW, Saheki T", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "10369257", "url": "https://glygen.org/publication/PubMed/10369257" } ] }, { "title": "Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene.", "journal": "American journal of medical genetics", "date": "1999", "authors": "Hou DC, Kure S, Suzuki Y, Hasegawa Y, Hara Y, Inoue T, Kida Y, Matsubara Y, Narisawa K", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "reference": [ { "type": "PubMed", "id": "10482875", "url": "https://glygen.org/publication/PubMed/10482875" } ] }, { "title": "The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.", "journal": "European journal of human genetics : EJHG", "date": "1999", "authors": "Veiga-da-Cunha M, Gerin I, Chen YT, Lee PJ, Leonard JV, Maire I, Wendel U, Vikkula M, Van Schaftingen E", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "reference": [ { "type": "PubMed", "id": "10482962", "url": "https://glygen.org/publication/PubMed/10482962" } ] }, { "title": "Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c.", "journal": "FEBS letters", "date": "1999", "authors": "Galli L, Orrico A, Marcolongo P, Fulceri R, Burchell A, Melis D, Parini R, Gatti R, Lam C, Benedetti A, Sorrentino V", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "reference": [ { "type": "PubMed", "id": "10518030", "url": "https://glygen.org/publication/PubMed/10518030" } ] }, { "title": "Organization and sequence of the gene for the human mitochondrial dicarboxylate carrier: evolution of the carrier family.", "journal": "The Biochemical journal", "date": "1999", "authors": "Fiermonte G, Dolce V, Arrigoni R, Runswick MJ, Walker JE, Palmieri F", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "10585886", "url": "https://glygen.org/publication/PubMed/10585886" } ] }, { "title": "Characterization of a second member of the subfamily of calcium-binding mitochondrial carriers expressed in human non-excitable tissues.", "journal": "The Biochemical journal", "date": "2000", "authors": "Del Arco A, Agudo M, Satrustegui J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "10642534", "url": "https://glygen.org/publication/PubMed/10642534" } ] }, { "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-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "10714828", "url": "https://glygen.org/publication/PubMed/10714828" } ] }, { "title": "A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b.", "journal": "Human mutation", "date": "2000", "authors": "Lam CW, Chan KY, Tong SF, Chan BY, Chan YT, Chan YW", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "reference": [ { "type": "PubMed", "id": "10874322", "url": "https://glygen.org/publication/PubMed/10874322" } ] }, { "title": "Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.", "journal": "Human mutation", "date": "2000", "authors": "Santer R, Rischewski J, Block G, Kinner M, Wendel U, Schaub J, Schneppenheim R", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "reference": [ { "type": "PubMed", "id": "10923042", "url": "https://glygen.org/publication/PubMed/10923042" } ] }, { "title": "Glycogen storage disease type Ib without neutropenia.", "journal": "The Journal of pediatrics", "date": "2000", "authors": "Kure S, Hou DC, Suzuki Y, Yamagishi A, Hiratsuka M, Fukuda T, Sugie H, Kondo N, Matsubara Y, Narisawa K", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "reference": [ { "type": "PubMed", "id": "10931421", "url": "https://glygen.org/publication/PubMed/10931421" } ] }, { "title": "Mutation analysis in glycogen storage disease type 1 non-a.", "journal": "Human genetics", "date": "2000", "authors": "Janecke AR, Lindner M, Erdel M, Mayatepek E, Moslinger D, Podskarbi T, Fresser F, Stockler-Ipsiroglu S, Hoffmann GF, Utermann G", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "reference": [ { "type": "PubMed", "id": "11071391", "url": "https://glygen.org/publication/PubMed/11071391" } ] }, { "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-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "11506403", "url": "https://glygen.org/publication/PubMed/11506403" } ] }, { "title": "Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria.", "journal": "The EMBO journal", "date": "2001", "authors": "Palmieri L, Pardo B, Lasorsa FM, del Arco A, Kobayashi K, Iijima M, Runswick MJ, Walker JE, Saheki T, Satrustegui J, Palmieri F", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "11566871", "url": "https://glygen.org/publication/PubMed/11566871" } ] }, { "title": "Crystal structure of human cytosolic phosphoenolpyruvate carboxykinase reveals a new GTP-binding site.", "journal": "Journal of molecular biology", "date": "2002", "authors": "Dunten P, Belunis C, Crowther R, Hollfelder K, Kammlott U, Levin W, Michel H, Ramsey GB, Swain A, Weber D, Wertheimer SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "11851336", "url": "https://glygen.org/publication/PubMed/11851336" } ] }, { "title": "Transport of phosphoenolpyruvate by the tricarboxylate transporting system in mammalian mitochondria.", "journal": "FEBS letters", "date": "1971", "authors": "Robinson BH", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "11945784", "url": "https://glygen.org/publication/PubMed/11945784" } ] }, { "title": "Effects of synthetic analogues of phosphoenolpyruvate on muscle and liver pyruvate kinase, muscle enolase, liver phosphoenolpyruvate carboxykinase and on the intra-/extra-mitochondrial tricarboxylic acid carrier transport system.", "journal": "FEBS letters", "date": "1971", "authors": "Soling HD, Walter U, Sauer H, Kleineke J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "11946196", "url": "https://glygen.org/publication/PubMed/11946196" } ] }, { "title": "Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex.", "journal": "Current molecular medicine", "date": "2002", "authors": "Chou JY, Matern D, Mansfield BC, Chen YT", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "reference": [ { "type": "PubMed", "id": "11949931", "url": "https://glygen.org/publication/PubMed/11949931" } ] }, { "title": "The catalytic center of glucose-6-phosphatase. HIS176 is the nucleophile forming the phosphohistidine-enzyme intermediate during catalysis.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Ghosh A, Shieh JJ, Pan CJ, Sun MS, Chou JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "12093795", "url": "https://glygen.org/publication/PubMed/12093795" } ] }, { "title": "Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b.", "journal": "Molecular genetics and metabolism", "date": "2002", "authors": "Yuen YP, Cheng WF, Tong SF, Chan YT, Chan YW, Lam CW", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "reference": [ { "type": "PubMed", "id": "12409273", "url": "https://glygen.org/publication/PubMed/12409273" } ] }, { "title": "Expression and characterization of a human pyruvate carboxylase variant by retroviral gene transfer.", "journal": "The Biochemical journal", "date": "2003", "authors": "Carbone MA, Robinson BH", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "12437512", "url": "https://glygen.org/publication/PubMed/12437512" } ] }, { "title": "Relationship of phosphoenolpyruvate transport, acyl coenzyme A inhibition of adenine nucleotide translocase and calcium ion efflux in guinea pig heart mitochondria.", "journal": "Archives of biochemistry and biophysics", "date": "1976", "authors": "Sul HS, Shrago E, Shug AL", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "1252077", "url": "https://glygen.org/publication/PubMed/1252077" } ] }, { "title": "Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency.", "journal": "Metabolic brain disease", "date": "2002", "authors": "Saheki T, Kobayashi K, Iijima M, Nishi I, Yasuda T, Yamaguchi N, Gao HZ, Jalil MA, Begum L, Li MX", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "12602510", "url": "https://glygen.org/publication/PubMed/12602510" } ] }, { "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-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "1278465", "url": "https://glygen.org/publication/PubMed/1278465" } ] }, { "title": "Identification and characterisation of a new human glucose-6-phosphatase isoform.", "journal": "FEBS letters", "date": "2003", "authors": "Guionie O, Clottes E, Stafford K, Burchell A", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "12965222", "url": "https://glygen.org/publication/PubMed/12965222" } ] }, { "title": "Histidine 167 is the phosphate acceptor in glucose-6-phosphatase-beta forming a phosphohistidine enzyme intermediate during catalysis.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Ghosh A, Shieh JJ, Pan CJ, Chou JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "14718531", "url": "https://glygen.org/publication/PubMed/14718531" } ] }, { "title": "Enzymatic characterization of the pancreatic islet-specific glucose-6-phosphatase-related protein (IGRP).", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Petrolonis AJ, Yang Q, Tummino PJ, Fish SM, Prack AE, Jain S, Parsons TF, Li P, Dales NA, Ge L, Langston SP, Schuller AG, An WF, Tartaglia LA, Chen H, Hong SB", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "14722102", "url": "https://glygen.org/publication/PubMed/14722102" } ] }, { "title": "Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R.", "journal": "Molecular genetics and metabolism", "date": "2004", "authors": "Kojima K, Kure S, Kamada F, Hao K, Ichinohe A, Sato K, Aoki Y, Yoichi S, Kubota M, Horikawa R, Utsumi A, Miura M, Ogawa S, Kanazawa M, Kohno Y, Inokuchi M, Hasegawa T, Narisawa K, Matsubara Y", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "reference": [ { "type": "PubMed", "id": "15059622", "url": "https://glygen.org/publication/PubMed/15059622" } ] }, { "title": "Developmental regulation and cellular distribution of human cytosolic malate dehydrogenase (MDH1).", "journal": "Journal of cellular biochemistry", "date": "2005", "authors": "Lo AS, Liew CT, Ngai SM, Tsui SK, Fung KP, Lee CY, Waye MM", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "15565635", "url": "https://glygen.org/publication/PubMed/15565635" } ] }, { "title": "Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases.", "journal": "Journal of inherited metabolic disease", "date": "2004", "authors": "Trioche P, Petit F, Francoual J, Gajdos V, Capel L, Pous C, Labrune P", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "reference": [ { "type": "PubMed", "id": "15669677", "url": "https://glygen.org/publication/PubMed/15669677" } ] }, { "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-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "15710582", "url": "https://glygen.org/publication/PubMed/15710582" } ] }, { "title": "A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.", "journal": "Journal of Korean medical science", "date": "2005", "authors": "Han SH, Ki CS, Lee JE, Hong YJ, Son BK, Lee KH, Choe YH, Lee SY, Kim JW", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "reference": [ { "type": "PubMed", "id": "15953877", "url": "https://glygen.org/publication/PubMed/15953877" } ] }, { "title": "An NADH-tetrazolium-coupled sensitive assay for malate dehydrogenase in mitochondria and crude tissue homogenates.", "journal": "Journal of biochemical and biophysical methods", "date": "2006", "authors": "Luo C, Wang X, Long J, Liu J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "16740313", "url": "https://glygen.org/publication/PubMed/16740313" } ] }, { "title": "Porphyrin accumulation in mitochondria is mediated by 2-oxoglutarate carrier.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Kabe Y, Ohmori M, Shinouchi K, Tsuboi Y, Hirao S, Azuma M, Watanabe H, Okura I, Handa H", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "16920706", "url": "https://glygen.org/publication/PubMed/16920706" } ] }, { "title": "The glucose-6-phosphate transporter is a phosphate-linked antiporter deficient in glycogen storage disease type Ib and Ic.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2008", "authors": "Chen SY, Pan CJ, Nandigama K, Mansfield BC, Ambudkar SV, Chou JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "18337460", "url": "https://glygen.org/publication/PubMed/18337460" } ] }, { "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-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "183598", "url": "https://glygen.org/publication/PubMed/183598" } ] }, { "title": "Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.", "journal": "Human mutation", "date": "2008", "authors": "Chou JY, Mansfield BC", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "18449899", "url": "https://glygen.org/publication/PubMed/18449899" } ] }, { "title": "Structure, mechanism and regulation of pyruvate carboxylase.", "journal": "The Biochemical journal", "date": "2008", "authors": "Jitrapakdee S, St Maurice M, Rayment I, Cleland WW, Wallace JC, Attwood PV", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "18613815", "url": "https://glygen.org/publication/PubMed/18613815" } ] }, { "title": "A syndrome with congenital neutropenia and mutations in G6PC3.", "journal": "The New England journal of medicine", "date": "2009", "authors": "Boztug K, Appaswamy G, Ashikov A, Schaffer AA, Salzer U, Diestelhorst J, Germeshausen M, Brandes G, Lee-Gossler J, Noyan F, Gatzke AK, Minkov M, Greil J, Kratz C, Petropoulou T, Pellier I, Bellanne-Chantelot C, Rezaei N, Monkemoller K, Irani-Hakimeh N, Bakker H, Gerardy-Schahn R, Zeidler C, Grimbacher B, Welte K, Klein C", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "19118303", "url": "https://glygen.org/publication/PubMed/19118303" } ] }, { "title": "Glycogen storage disease type Ib: the first case in Taiwan.", "journal": "Pediatrics and neonatology", "date": "2009", "authors": "Hsiao HJ, Chang HH, Hwu WL, Lam CW, Lee NC, Chien YH", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "reference": [ { "type": "PubMed", "id": "19579760", "url": "https://glygen.org/publication/PubMed/19579760" } ] }, { "title": "A novel mutation in SLC37A4 gene in a Sri Lankan boy with glycogen storage disease type Ib associated with very early onset neutropenia.", "journal": "Journal of molecular and genetic medicine : an international journal of biomedical research", "date": "2011", "authors": "Dissanayake VH, Jayasinghe JD, Thilakaratne V, Jayasekara RW", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "reference": [ { "type": "PubMed", "id": "21629566", "url": "https://glygen.org/publication/PubMed/21629566" } ] }, { "title": "SLC37A1 and SLC37A2 are phosphate-linked, glucose-6-phosphate antiporters.", "journal": "PloS one", "date": "2011", "authors": "Pan CJ, Chen SY, Jun HS, Lin SR, Mansfield BC, Chou JY", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" }, { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "21949678", "url": "https://glygen.org/publication/PubMed/21949678" } ] }, { "title": "The amino acid sequence of cytosolic aspartate aminotransferase from human liver.", "journal": "The Biochemical journal", "date": "1990", "authors": "Doyle JM, Schinina ME, Bossa F, Doonan S", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "2241899", "url": "https://glygen.org/publication/PubMed/2241899" } ] }, { "title": "The SLC37 family of phosphate-linked sugar phosphate antiporters.", "journal": "Molecular aspects of medicine", "date": "2013", "authors": "Chou JY, Sik Jun H, Mansfield BC", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "23506893", "url": "https://glygen.org/publication/PubMed/23506893" } ] }, { "title": "Refined crystal structure of cytoplasmic malate dehydrogenase at 2.5-A resolution.", "journal": "Biochemistry", "date": "1989", "authors": "Birktoft JJ, Rhodes G, Banaszak LJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "2775751", "url": "https://glygen.org/publication/PubMed/2775751" } ] }, { "title": "SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency.", "journal": "Human molecular genetics", "date": "2018", "authors": "Punzi G, Porcelli V, Ruggiu M, Hossain MF, Menga A, Scarcia P, Castegna A, Gorgoglione R, Pierri CL, Laera L, Lasorsa FM, Paradies E, Pisano I, Marobbio CMT, Lamantea E, Ghezzi D, Tiranti V, Giannattasio S, Donati MA, Guerrini R, Palmieri L, Palmieri F, De Grassi A", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "29211846", "url": "https://glygen.org/publication/PubMed/29211846" } ] }, { "title": "Biochemical and genetic identity of alpha-keto acid reductase and cytoplasmic malate dehydrogenase from human erythrocytes.", "journal": "Annals of human genetics", "date": "1988", "authors": "Friedrich CA, Ferrell RE, Siciliano MJ, Kitto GB", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "3052244", "url": "https://glygen.org/publication/PubMed/3052244" } ] }, { "title": "Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.", "journal": "American journal of human genetics", "date": "2019", "authors": "van Karnebeek CDM, Ramos RJ, Wen XY, Tarailo-Graovac M, Gleeson JG, Skrypnyk C, Brand-Arzamendi K, Karbassi F, Issa MY, van der Lee R, Drogemoller BI, Koster J, Rousseau J, Campeau PM, Wang Y, Cao F, Li M, Ruiter J, Ciapaite J, Kluijtmans LAJ, Willemsen MAAP, Jans JJ, Ross CJ, Wintjes LT, Rodenburg RJ, Huigen MCDG, Jia Z, Waterham HR, Wasserman WW, Wanders RJA, Verhoeven-Duif NM, Zaki MS, Wevers RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "31422819", "url": "https://glygen.org/publication/PubMed/31422819" } ] }, { "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-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "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-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "3208766", "url": "https://glygen.org/publication/PubMed/3208766" } ] }, { "title": "SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation.", "journal": "Molecular genetics and metabolism reports", "date": "2020", "authors": "Marquardt T, Bzduch V, Hogrebe M, Rust S, Reunert J, Gruneberg M, Park J, Callewaert N, Lachmann R, Wada Y, Engel T", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "reference": [ { "type": "PubMed", "id": "32884905", "url": "https://glygen.org/publication/PubMed/32884905" } ] }, { "title": "A novel SLC37A4 missense mutation in GSD-Ib without hepatomegaly causes enhanced leukocytes endoplasmic reticulum stress and apoptosis.", "journal": "Molecular genetics & genomic medicine", "date": "2021", "authors": "Xu Q, Tang H, Duan L, Zuo X, Shi X, Li Y, Zhao H, Zhang H", "evidence": [ { "database": "RefSeq", "id": "NP_001157749", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157749" } ], "reference": [ { "type": "PubMed", "id": "33280276", "url": "https://glygen.org/publication/PubMed/33280276" } ] }, { "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-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "3355497", "url": "https://glygen.org/publication/PubMed/3355497" } ] }, { "title": "SLC37A4-CDG: Second patient.", "journal": "JIMD reports", "date": "2021", "authors": "Wilson MP, Quelhas D, Leao-Teles E, Sturiale L, Rymen D, Keldermans L, Race V, Souche E, Rodrigues E, Campos T, Van Schaftingen E, Foulquier F, Garozzo D, Matthijs G, Jaeken J", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "reference": [ { "type": "PubMed", "id": "33728255", "url": "https://glygen.org/publication/PubMed/33728255" } ] }, { "title": "A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.", "journal": "American journal of human genetics", "date": "2021", "authors": "Ng BG, Sosicka P, Fenaille F, Harroche A, Vuillaumier-Barrot S, Porterfield M, Xia ZJ, Wagner S, Bamshad MJ, Vergnes-Boiteux MC, Cholet S, Dalton S, Dell A, Dupre T, Fiore M, Haslam SM, Huguenin Y, Kumagai T, Kulik M, McGoogan K, Michot C, Nickerson DA, Pascreau T, Borgel D, Raymond K, Warad D, Flanagan-Steet H, Steet R, Tiemeyer M, Seta N, Bruneel A, Freeze HH", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" }, { "database": "RefSeq", "id": "NP_001157749", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157749" } ], "reference": [ { "type": "PubMed", "id": "33964207", "url": "https://glygen.org/publication/PubMed/33964207" } ] }, { "title": "Phosphoenolpyruvate carboxykinase in cell metabolism: Roles and mechanisms beyond gluconeogenesis.", "journal": "Molecular metabolism", "date": "2021", "authors": "Yu S, Meng S, Xiang M, Ma H", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "34020084", "url": "https://glygen.org/publication/PubMed/34020084" } ] }, { "title": "PCK2 opposes mitochondrial respiration and maintains the redox balance in starved lung cancer cells.", "journal": "Free radical biology & medicine", "date": "2021", "authors": "Bluemel G, Planque M, Madreiter-Sokolowski CT, Haitzmann T, Hrzenjak A, Graier WF, Fendt SM, Olschewski H, Leithner K", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "34520823", "url": "https://glygen.org/publication/PubMed/34520823" } ] }, { "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-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "3529090", "url": "https://glygen.org/publication/PubMed/3529090" } ] }, { "title": "Metabolic cycles and signals for insulin secretion.", "journal": "Cell metabolism", "date": "2022", "authors": "Merrins MJ, Corkey BE, Kibbey RG, Prentki M", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "35728586", "url": "https://glygen.org/publication/PubMed/35728586" } ] }, { "title": "Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review.", "journal": "The Journal of international medical research", "date": "2023-12", "authors": "Wang Zhuolin, Zhao Ruiqin, Jia Xiaoyun, Li Xiaolei, Ma Li, Fu Haiyan", "evidence": [ { "database": "RefSeq", "id": "NP_001157749", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157749" } ], "reference": [ { "type": "PubMed", "id": "38087503", "url": "https://glygen.org/publication/PubMed/38087503" } ] }, { "title": "The primary structure of mitochondrial aspartate aminotransferase from human heart.", "journal": "Biochimica et biophysica acta", "date": "1985", "authors": "Martini F, Angelaccio S, Barra D, Pascarella S, Maras B, Doonan S, Bossa F", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "4052435", "url": "https://glygen.org/publication/PubMed/4052435" } ] }, { "title": "Mechanism of the exchanges catalysed by the oxoglutarate translocator of rat-heart mitochondria. Kinetics of the external-product inhibition.", "journal": "European journal of biochemistry", "date": "1973", "authors": "Sluse FE, Goffart G, Liebecq C", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "4687397", "url": "https://glygen.org/publication/PubMed/4687397" } ] }, { "title": "Inhibition of phosphoenolpyruvate transport via the tricarboxylate and adenine nucleotide carrier systems of rat liver mitochondria.", "journal": "Biochemical and biophysical research communications", "date": "1973", "authors": "Shug AL, Shrago E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "4716993", "url": "https://glygen.org/publication/PubMed/4716993" } ] }, { "title": "On the specificity of the tricarboxylate carrier system in rat liver mitochondria.", "journal": "FEBS letters", "date": "1973", "authors": "Kleineke J, Sauer H, Soling HD", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "4719206", "url": "https://glygen.org/publication/PubMed/4719206" } ] }, { "title": "Relationship between intracellular distribution of phosphoenolpyruvate carboxykinase, regulation of gluconeogenesis, and energy cost of glucose formation.", "journal": "European journal of biochemistry", "date": "1973", "authors": "Soling HD, Kleineke J, Willms B, Janson G, Kuhn A", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "4745729", "url": "https://glygen.org/publication/PubMed/4745729" } ] }, { "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-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "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-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "5009693", "url": "https://glygen.org/publication/PubMed/5009693" } ] }, { "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-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "6434534", "url": "https://glygen.org/publication/PubMed/6434534" } ] }, { "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-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "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-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "7144574", "url": "https://glygen.org/publication/PubMed/7144574" } ] }, { "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-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "7391027", "url": "https://glygen.org/publication/PubMed/7391027" } ] }, { "title": "Citrate transport in liposomes reconstituted with triton extracts from mitochondria.", "journal": "Biochemical and biophysical research communications", "date": "1980", "authors": "Stipani I, Kramer R, Palmieri F, Klingenberg M", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "7470147", "url": "https://glygen.org/publication/PubMed/7470147" } ] }, { "title": "Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.", "journal": "American journal of human genetics", "date": "1995", "authors": "Lei KJ, Chen YT, Chen H, Wong LJ, Liu JL, McConkie-Rosell A, Van Hove JL, Ou HC, Yeh NJ, Pan LY, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "7573034", "url": "https://glygen.org/publication/PubMed/7573034" } ] }, { "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-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "7717389", "url": "https://glygen.org/publication/PubMed/7717389" } ] }, { "title": "Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.", "journal": "Science (New York, N.Y.)", "date": "1993", "authors": "Lei KJ, Shelly LL, Pan CJ, Sidbury JB, Chou JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "8211187", "url": "https://glygen.org/publication/PubMed/8211187" } ] }, { "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-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "8447317", "url": "https://glygen.org/publication/PubMed/8447317" } ] }, { "title": "Molecular analysis of a series of alleles in humans with reduced activity at the triosephosphate isomerase locus.", "journal": "American journal of human genetics", "date": "1996", "authors": "Watanabe M, Zingg BC, Mohrenweiser HW", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "8571957", "url": "https://glygen.org/publication/PubMed/8571957" } ] }, { "title": "The formation of a disulfide cross-link between the two subunits demonstrates the dimeric structure of the mitochondrial oxoglutarate carrier.", "journal": "Biochimica et biophysica acta", "date": "1996", "authors": "Bisaccia F, Zara V, Capobianco L, Iacobazzi V, Mazzeo M, Palmieri F", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "8597574", "url": "https://glygen.org/publication/PubMed/8597574" } ] }, { "title": "Molecular cloning, sequencing and expression of the cDNA of the mitochondrial form of phosphoenolpyruvate carboxykinase from human liver.", "journal": "The Biochemical journal", "date": "1996", "authors": "Modaressi S, Christ B, Bratke J, Zahn S, Heise T, Jungermann K", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "8645161", "url": "https://glygen.org/publication/PubMed/8645161" } ] }, { "title": "Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.", "journal": "American journal of human genetics", "date": "1997", "authors": "Kikawa Y, Inuzuka M, Jin BY, Kaji S, Koga J, Yamamoto Y, Fujisawa K, Hata I, Nakai A, Shigematsu Y, Mizunuma H, Taketo A, Mayumi M, Sudo M", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "9382095", "url": "https://glygen.org/publication/PubMed/9382095" } ] }, { "title": "Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.", "journal": "FEBS letters", "date": "1997", "authors": "Gerin I, Veiga-da-Cunha M, Achouri Y, Collet JF, Van Schaftingen E", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" }, { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "9428641", "url": "https://glygen.org/publication/PubMed/9428641" } ] }, { "title": "Human mitochondrial phosphoenolpyruvate carboxykinase 2 gene. Structure, chromosomal localization and tissue-specific expression.", "journal": "The Biochemical journal", "date": "1998", "authors": "Modaressi S, Brechtel K, Christ B, Jungermann K", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "9657976", "url": "https://glygen.org/publication/PubMed/9657976" } ] }, { "title": "Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.", "journal": "Biochemical and biophysical research communications", "date": "1998", "authors": "Kure S, Suzuki Y, Matsubara Y, Sakamoto O, Shintaku H, Isshiki G, Hoshida C, Izumi I, Sakura N, Narisawa K", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "reference": [ { "type": "PubMed", "id": "9675154", "url": "https://glygen.org/publication/PubMed/9675154" } ] }, { "title": "Isolation and characterization of an allelic cDNA for human muscle fructose-1,6-bisphosphatase.", "journal": "Gene", "date": "1998", "authors": "Tillmann H, Eschrich K", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "9678974", "url": "https://glygen.org/publication/PubMed/9678974" } ] }, { "title": "A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.", "journal": "American journal of human genetics", "date": "1998", "authors": "Veiga-da-Cunha M, Gerin I, Chen YT, de Barsy T, de Lonlay P, Dionisi-Vici C, Fenske CD, Lee PJ, Leonard JV, Maire I, McConkie-Rosell A, Schweitzer S, Vikkula M, Van Schaftingen E", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" }, { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "9758626", "url": "https://glygen.org/publication/PubMed/9758626" } ] }, { "title": "Structure and mutation analysis of the glycogen storage disease type 1b gene.", "journal": "FEBS letters", "date": "1998", "authors": "Marcolongo P, Barone V, Priori G, Pirola B, Giglio S, Biasucci G, Zammarchi E, Parenti G, Burchell A, Benedetti A, Sorrentino V", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "reference": [ { "type": "PubMed", "id": "9781688", "url": "https://glygen.org/publication/PubMed/9781688" } ] }, { "title": "Aggregation states of mitochondrial malate dehydrogenase.", "journal": "Protein science : a publication of the Protein Society", "date": "1998", "authors": "Sanchez SA, Hazlett TL, Brunet JE, Jameson DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "9792106", "url": "https://glygen.org/publication/PubMed/9792106" } ] }, { "title": "Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib.", "journal": "Human genetics", "date": "1998", "authors": "Ihara K, Kuromaru R, Hara T", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "reference": [ { "type": "PubMed", "id": "9856496", "url": "https://glygen.org/publication/PubMed/9856496" } ] } ], "pathway": [ { "id": "hsa:2542", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2542", "resource": "KEGG Pathway" }, { "id": "R-HSA-3229133", "name": "Glycogen storage disease type Ib (SLC37A4)", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3229133", "resource": "Reactome", "description": "Glycogen storage disease type Ib (SLC37A4)" }, { "id": "R-HSA-70263", "name": "Gluconeogenesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263", "resource": "Reactome", "description": "Gluconeogenesis" } ], "orthologs": [ { "uniprot_canonical_ac": "Q9D1F9-1", "protein_name": "Solute carrier family 37 (Glucose-6-phosphate transporter), member 4", "gene_name": "Slc37a4", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAAQGYGYYRTVIFAAMFGGYSLYYFNRKTFSFVMPSLVDEIALDKDDLGLITSSQSAAYAISKFVSGVLSDQMSARWLFSSGLLLVGLVNVVFSWSSTVSAFAALWFLNGLAQGLGWPPCGKILRKWFEPSQFGTWWAVLSTSMNLAGSLGPILATILAQSYSWRSTLALSGALCVVVSFFCLLLIHNEPADVGLRNLDPAPSKGKKGSSKEESTLQDLLLSPYLWVLSTGYLVVFGVKTCCTDWGQFFLIQERGQSALVGSSYISALEVGGLVGSIAAGYLSDRAMAKAGLSLYGNPRHGLLLLMMAGMAASMFLFRVTVTSDSPKIWILVLGAVFGFSSYGPIALFGVIANESAPPNLCGTSHAIVGLMANVGGFLAGLPFSTIAKHYSWSTAFWVAEVVCGASTVVFFLLRNIRTKMGRVSKKGE", "length": 429 }, "evidence": [ { "id": "45923431", "url": "http://www.informatics.jax.org/homology/45923431", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "pmid": "" }, { "name": "glucose 6-phosphate:inorganic phosphate antiporter activity", "id": "GO:0061513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061513", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "pmid": "" }, { "name": "glucose-6-phosphate transmembrane transporter activity", "id": "GO:0015152", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015152", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "organelle membrane", "id": "GO:0031090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031090", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 21, "go_terms": [ { "name": "gluconeogenesis", "id": "GO:0006094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006094", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "pmid": "" }, { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "pmid": "" }, { "name": "carbohydrate transport", "id": "GO:0008643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008643", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "pmid": "" }, { "name": "glucose-6-phosphate transport", "id": "GO:0015760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015760", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "pmid": "" }, { "name": "phosphate ion transmembrane transport", "id": "GO:0035435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035435", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "pmid": "" }, { "name": "myeloid progenitor cell differentiation", "id": "GO:0002318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002318", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "pmid": "" }, { "name": "triglyceride metabolic process", "id": "GO:0006641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006641", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "pmid": "" }, { "name": "response to nutrient", "id": "GO:0007584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007584", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "pmid": "" }, { "name": "glycogen metabolic process", "id": "GO:0005977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005977", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "pmid": "" }, { "name": "response to organic cyclic compound", "id": "GO:0014070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014070", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "pmid": "" }, { "name": "response to glucose", "id": "GO:0009749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009749", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "pmid": "" }, { "name": "steroid metabolic process", "id": "GO:0008202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008202", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "pmid": "" }, { "name": "neutrophil homeostasis", "id": "GO:0001780", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001780", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "pmid": "" }, { "name": "neutrophil chemotaxis", "id": "GO:0030593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030593", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "pmid": "" }, { "name": "respiratory burst", "id": "GO:0045730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045730", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "pmid": "" }, { "name": "lactate metabolic process", "id": "GO:0006089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006089", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "pmid": "" }, { "name": "negative regulation of chemokine production", "id": "GO:0032682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032682", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "pmid": "" }, { "name": "post-embryonic hemopoiesis", "id": "GO:0035166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035166", "evidence": [ { "database": "UniProtKB", "id": "O43826", "url": "https://www.uniprot.org/uniprot/O43826" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 354, "end_pos": 356, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "71535", "name": "", "equation": "D-glucose 6-phosphate(in) + phosphate(out) = D-glucose 6-phosphate(out) + phosphate(in)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [], "evidence": [ { "id": "71535", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/71535" } ] } ], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [ 419 ], "sequon_annotation_sites": [ { "start_pos": 354, "end_pos": 356 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 91 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }