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[] } ] }, { "title": "The active conformation of human glucokinase is not altered by allosteric activators.", "journal": "Acta Crystallogr. D", "date": "2011", "authors": "Petit P, Antoine M, Ferry G, Boutin JA, Lagarde A, Gluais L, Vincentelli R, Vuillard L", "reference": { "type": "PubMed", "id": "22101819", "url": "https://pubmed.ncbi.nlm.nih.gov/22101819" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P35557-1", "protein_name": "Hexokinase-4", "gene_name": "GCK", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35557", "url": "https://www.uniprot.org/uniprotkb/P35557" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.22101819", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": 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Definition of a subtype of diabetes mellitus.", "journal": "The New England journal of medicine", "date": "1993-03-11", "authors": "Froguel P, Zouali H, Vionnet N, Velho G, Vaxillaire M, Sun F, Lesage S, Stoffel M, Takeda J, Passa P", "reference": { "type": "PubMed", "id": "8433729", "url": "https://pubmed.ncbi.nlm.nih.gov/8433729" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P35557-1", "protein_name": "Hexokinase-4", "gene_name": "GCK", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35557", "url": "https://www.uniprot.org/uniprotkb/P35557" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8433729", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", 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"comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "7", "chr_pos": "44151048", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S131", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0070216", "recommended_name": { "id": "DOID:0070216", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070216", "name": "familial hyperinsulinemic hypoglycemia 3", "description": "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has_material_basis_in activating mutations in the GCK gene on chromosome 7p13." }, "synonyms": [ { "id": "DOID:0070216", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070216", "name": "HHF3", "description": "" }, { "id": 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"url": "https://disease-ontology.org/term/DOID:0111100", "name": "MODY glucokinase-related", "description": "" }, { "id": "DOID:0111100", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111100", "name": "MODY type 2", "description": "" }, { "id": "DOID:0111100", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111100", "name": "MODY2", "description": "" }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "maturity-onset diabetes of the young type 2", "description": "Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes." }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "GCK maturity-onset diabetes of the young (disease)", "description": "" }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "GCK-associated diabetes mellitus", "description": "" }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "MODY 2 monogenic diabetes type 2", "description": "" }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "MODY, type II", "description": "" }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "MODY2", "description": "" }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "glucokinase-associated diabetes mellitus", "description": "" }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "maturity onset diabetes of the Young, type 2", "description": "" }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "maturity-onset diabetes of the young (disease) caused by mutation in GCK", "description": "" }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "diabetes mellitus MODY type 2", "description": "" }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "maturity-onset diabetes of the young, type 2", "description": "" }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "type 2 maturity-onset diabetes of the young", "description": "" }, { "id": "MIM:125851", "resource": "MIM", "url": "https://www.omim.org/entry/125851", "name": "Maturity-onset diabetes of the young 2", "description": "Maturity-onset diabetes of the young 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "125851", "database": "MIM", "url": "https://www.omim.org/entry/125851" }, { "id": "0111100", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111100" } ] }, { "disease_id": "DOID:0060639", "recommended_name": { "id": "DOID:0060639", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060639", "name": "permanent neonatal diabetes mellitus", "description": "A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene." }, "synonyms": [ { "id": "DOID:0060639", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060639", "name": "PDMI", "description": "" }, { "id": "DOID:0060639", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060639", "name": "PNDM", "description": "" }, { "id": "DOID:0060639", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060639", "name": "permanent diabetes mellitus of infancy", "description": "" }, { "id": "MONDO:0100165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100165", "name": "permanent neonatal diabetes mellitus 1", "description": "A rare autosomal recessive disorder characterized by severe hyperglycemia which requires insulin treatment soon after birth. The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well." }, { "id": "MONDO:0100165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100165", "name": "PNDM1", "description": "" }, { "id": "MONDO:0100165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100165", "name": "diabetes mellitus, permanent neonatal 1", "description": "" }, { "id": "MONDO:0100165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100165", "name": "PDMI", "description": "" }, { "id": "MIM:606176", "resource": "MIM", "url": "https://www.omim.org/entry/606176", "name": "Diabetes mellitus, permanent neonatal, 1", "description": "Diabetes mellitus, permanent neonatal, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060639", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060639" } ] }, { "disease_id": "DOID:9352", "recommended_name": { "id": "DOID:9352", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin." }, "synonyms": [ { "id": "DOID:9352", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9352", "name": "NIDDM", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9352", "name": "non-insulin-dependent diabetes mellitus", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9352", "name": "type 2 diabetes", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9352", "name": "type II diabetes mellitus", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9352", "name": "insulin resistance", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus", "description": "A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity." }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "NIDDM", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "T2D", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "T2DM", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "T2DM - type 2 diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "adult onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "adult-onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitis type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitis type II", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, association with", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, late onset", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type II", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes, type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "insulin resistance, severe, digenic", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin dependent diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "noninsulin dependent diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "noninsulin-dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus non-insulin dependent", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type II diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type II diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, type 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "NIDDM1", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "NIDDM2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, 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"https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, type 4", "description": "" }, { "id": "MIM:125853", "resource": "MIM", "url": "https://www.omim.org/entry/125853", "name": "Type 2 diabetes mellitus", "description": "Type 2 diabetes mellitus" }, { "id": "MIM:601283", "resource": "MIM", "url": "https://www.omim.org/entry/601283", "name": "Type 2 diabetes mellitus 1", "description": "Type 2 diabetes mellitus 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ] } ], "filter_code": "000000000000000100000.00000000000000.000000000001000000.00001.10.000.001", "uniprot_canonical_ac": "P35557-1" }, { "evidence": [ { "id": "rs759421263", "database": "dbSNP", "url": 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"count": 0 } ], "sort_fields": [] } ] }, { "title": "Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families.", "journal": "Diabetologia", "date": "1997", "authors": "Velho G, Blanche H, Vaxillaire M, Bellanne-Chantelot C, Pardini VC, Timsit J, Passa P, Deschamps I, Robert JJ, Weber IT, Marotta D, Pilkis SJ, Lipkind GM, Bell GI, Froguel P", "reference": { "type": "PubMed", "id": "9049484", "url": "https://pubmed.ncbi.nlm.nih.gov/9049484" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P35557-1", "protein_name": "Hexokinase-4", "gene_name": "GCK", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35557", "url": "https://www.uniprot.org/uniprotkb/P35557" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs80356655", "database": "dbSNP", "url": 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"ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T228", "disease": [ { "disease_id": "DOID:0060639", "recommended_name": { "id": "DOID:0060639", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060639", "name": "permanent neonatal diabetes mellitus", "description": "A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene." }, "synonyms": [ { "id": "DOID:0060639", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060639", "name": "PDMI", "description": "" }, { "id": "DOID:0060639", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060639", "name": "PNDM", "description": "" }, { "id": "DOID:0060639", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060639", "name": "permanent diabetes 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The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well." }, { "id": "MONDO:0100165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100165", "name": "PNDM1", "description": "" }, { "id": "MONDO:0100165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100165", "name": "diabetes mellitus, permanent neonatal 1", "description": "" }, { "id": "MONDO:0100165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100165", "name": "PDMI", "description": "" }, { "id": "MIM:606176", "resource": "MIM", "url": "https://www.omim.org/entry/606176", "name": "Diabetes mellitus, permanent neonatal, 1", "description": "Diabetes mellitus, permanent neonatal, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060639", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060639" } ] }, { "disease_id": "DOID:0070216", "recommended_name": { "id": "DOID:0070216", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070216", "name": "familial hyperinsulinemic hypoglycemia 3", "description": "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has_material_basis_in activating mutations in the GCK gene on chromosome 7p13." }, "synonyms": [ { "id": "DOID:0070216", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070216", "name": "HHF3", "description": "" }, { "id": "DOID:0070216", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070216", "name": "hyperinsulinism due to glucokinase deficiency", "description": "" }, { "id": "DOID:0070216", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070216", "name": "hyperinsulinemic hypoglycemia due to glucokinase deficiency", "description": "" 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"MONDO:0011236", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011236", "name": "glucokinase-related hyperinsulinemic hypoglycemia", "description": "" }, { "id": "MONDO:0011236", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011236", "name": "hyperinsulinemic hypoglycemia familial 3", "description": "" }, { "id": "MONDO:0011236", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011236", "name": "hyperinsulinemic hypoglycemia, familial, 3", "description": "" }, { "id": "MONDO:0011236", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011236", "name": "hyperinsulinemic hypoglycemia, familial, type 3", "description": "" }, { "id": "MIM:602485", "resource": "MIM", "url": "https://www.omim.org/entry/602485", "name": "Hyperinsulinemic hypoglycemia, familial, 3", "description": "Hyperinsulinemic hypoglycemia, familial, 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "602485", "database": "MIM", "url": "https://www.omim.org/entry/602485" }, { "id": "0070216", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070216" } ] }, { "disease_id": "DOID:0111100", "recommended_name": { "id": "DOID:0111100", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111100", "name": "maturity-onset diabetes of the young type 2", "description": "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the GCK gene on chromosome 7p13." }, "synonyms": [ { "id": "DOID:0111100", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111100", "name": "MODY glucokinase-related", "description": "" }, { "id": "DOID:0111100", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111100", "name": "MODY type 2", "description": "" }, { "id": "DOID:0111100", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111100", "name": 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Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes." }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "GCK maturity-onset diabetes of the young (disease)", "description": "" }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "GCK-associated diabetes mellitus", "description": "" }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "MODY 2 monogenic diabetes type 2", "description": "" }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "MODY, type II", "description": "" }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "MODY2", "description": "" }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "glucokinase-associated diabetes mellitus", "description": "" }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "maturity onset diabetes of the Young, type 2", "description": "" }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "maturity-onset diabetes of the young (disease) caused by mutation in GCK", "description": "" }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "diabetes mellitus MODY type 2", "description": "" }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "maturity-onset diabetes of the young, type 2", "description": "" }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "type 2 maturity-onset diabetes of the young", "description": "" }, { "id": "MIM:125851", "resource": "MIM", "url": "https://www.omim.org/entry/125851", "name": "Maturity-onset diabetes of the young 2", "description": "Maturity-onset diabetes of the young 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "125851", "database": "MIM", "url": "https://www.omim.org/entry/125851" }, { "id": "0111100", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111100" } ] }, { "disease_id": "DOID:9352", "recommended_name": { "id": "DOID:9352", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin." }, "synonyms": [ { "id": "DOID:9352", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9352", "name": "NIDDM", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9352", "name": "non-insulin-dependent diabetes mellitus", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9352", "name": "type 2 diabetes", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9352", "name": "type II diabetes mellitus", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9352", "name": "insulin resistance", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus", "description": "A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. 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Yang Hui, Guo Ying, Rubalcava Ivan P, Noor Asra, Delma Caroline R, Agosto-Pe\u00f1a Joel, Geng Hui, Medina Edward A, Liang Ying, Nimer Stephen D, Mesa Ruben, Abdel-Wahab Omar, Xu Mingjiang, Yang Feng-Chun", "reference": { "type": "PubMed", "id": "37917239", "url": "https://pubmed.ncbi.nlm.nih.gov/37917239" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15054-2", "protein_name": "Lysine-specific demethylase 6B", "gene_name": "KDM6B", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15054", "url": "https://www.uniprot.org/uniprotkb/O15054" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37917239", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 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Biochem.", "date": "1995", "authors": "Lundberg S, Bj\u00f6rk J, L\u00f6fvenberg L, Backman L", "reference": { "type": "PubMed", "id": "7607240", "url": "https://pubmed.ncbi.nlm.nih.gov/7607240" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q13813-1", "protein_name": "Spectrin alpha chain, non-erythrocytic 1", "gene_name": "SPTAN1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13813", "url": "https://www.uniprot.org/uniprotkb/Q13813" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7607240", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { 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