{ "disease_id": "DOID:0080552", "recommended_name": { "id": "DOID:0080552", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080552", "name": "congenital disorder of glycosylation Ia", "description": "A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13." }, "synonyms": [ { "id": "DOID:0080552", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080552", "name": "PMM2-congenital disorder of glycosylation", "description": "" }, { "id": "DOID:0080552", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080552", "name": "congenital disorder of glycosylation 1a", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-congenital disorder of glycosylation", "description": "The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults." }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG 1A", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG syndrome type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG-IA", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG1A", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-CDG", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-congenital disorder of glycosylation", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate deficient glycoprotein syndrome type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "congenital disorder of glycosylation type 1a", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "congenital disorder of glycosylation type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "phosphomannomutase 2 deficiency", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-CDG (CDG-Ia)", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate-deficient glycoprotein syndrome type 1A", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate-deficient glycoprotein syndrome type 1A (formerly)", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate-deficient glycoprotein syndrome, type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "congenital disorder of glycosylation, type Ia", "description": "" }, { "id": "MIM:212065", "resource": "MIM", "url": "https://www.omim.org/entry/212065", "name": "Congenital disorder of glycosylation 1A", "description": "Congenital disorder of glycosylation 1A" } ], "children": [], "id_list": [ "DOID:0080552" ], 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"phosphomannose isomerase 1", "type": "synonym" } ], "gene_names": [ { "name": "PMM2", "type": "recommended" }, { "name": "CDG1a", "type": "synonym" }, { "name": "CDG1", "type": "synonym" }, { "name": "CDGS", "type": "synonym" }, { "name": "PMI1", "type": "synonym" }, { "name": "PMI", "type": "synonym" }, { "name": "PMM 2", "type": "synonym" }, { "name": "PMM2", "type": "synonym" } ], "record_id": "O15305-1", "evidence": [ { "id": "5373", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/5373#disease" }, { "id": "0008907", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907" }, { "id": "212065", "database": "MIM", "url": "https://www.omim.org/entry/212065" }, { "id": "PMM2", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/PMM2/#!details" }, { "id": "0080552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080552" } ] }, { "uniprot_canonical_ac": "E9QJJ1-1", "uniprot_ac": "E9QJJ1", "uniprot_id": "E9QJJ1_DANRE", "refseq_ac": "XP_003198203", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Insulin-like growth factor-binding protein complex acid labile subunit", "type": "recommended" }, { "name": "insulin-like growth factor-binding protein complex acid labile subunit", "type": "synonym" } ], "gene_names": [ { "name": "igfals", "type": "recommended" }, { "name": "igfals", "type": "synonym" } ], "record_id": "E9QJJ1-1", "evidence": [ { "id": "0080552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080552" } ] }, { "uniprot_canonical_ac": "Q9Z2M7-1", "uniprot_ac": "Q9Z2M7", "uniprot_id": "PMM2_MOUSE", "refseq_ac": "NP_058577", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", 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"type": "synonym" }, { "name": "phosphomannomutase 1 isoform 1", "type": "synonym" } ], "gene_names": [ { "name": "Pmm1", "type": "recommended" }, { "name": "Pmm1", "type": "synonym" } ], "record_id": "O35621-1", "evidence": [ { "id": "0080552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080552" } ] }, { "uniprot_canonical_ac": "P09535-1", "uniprot_ac": "P09535", "uniprot_id": "IGF2_MOUSE", "refseq_ac": "NP_001116208", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Insulin-like growth factor 2", "type": "recommended" }, { "name": "IGF-II", "type": "synonym" }, { "name": "Insulin-like growth factor II", "type": "synonym" }, { "name": "Multiplication-stimulating polypeptide", "type": "synonym" }, { "name": "insulin-like growth factor 2 isoform 2 preproprotein", "type": "synonym" }, { "name": 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"Insulin-like growth factor I", "type": "synonym" }, { "name": "Somatomedin", "type": "synonym" }, { "name": "insulin-like growth factor 1 isoform 4 preproprotein", "type": "synonym" }, { "name": "insulin-like growth factor I", "type": "synonym" }, { "name": "somatomedin", "type": "synonym" } ], "gene_names": [ { "name": "Igf1", "type": "recommended" }, { "name": "C730016P09Rik", "type": "synonym" }, { "name": "Igf-1", "type": "synonym" }, { "name": "Igf-I", "type": "synonym" }, { "name": "Igf1", "type": "synonym" } ], "record_id": "P05017-1", "evidence": [ { "id": "0080552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080552" } ] }, { "uniprot_canonical_ac": "P47878-1", "uniprot_ac": "P47878", "uniprot_id": "IBP3_MOUSE", "refseq_ac": "NP_032369", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": 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"Insulin-like growth factor-binding protein complex acid labile subunit", "type": "recommended" }, { "name": "ALS", "type": "synonym" }, { "name": "insulin-like growth factor-binding protein complex acid labile subunit isoform 1 precursor", "type": "synonym" }, { "name": "insulin-like growth factor-binding protein complex acid labile subunit", "type": "synonym" } ], "gene_names": [ { "name": "Igfals", "type": "recommended" }, { "name": "ALS", "type": "synonym" }, { "name": "Albs", "type": "synonym" }, { "name": "Als", "type": "synonym" }, { "name": "Igfals", "type": "synonym" } ], "record_id": "P70389-1", "evidence": [ { "id": "0080552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080552" } ] }, { "uniprot_canonical_ac": "P07283-1", "uniprot_ac": "P07283", "uniprot_id": "PMM_YEAST", "refseq_ac": "NP_116609", "glycoprotein": "no", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "Phosphomannomutase", "type": "recommended" }, { "name": "5.4.2.8", "type": "synonym" }, { "name": "Asparagine-linked glycosylation protein 4", "type": "synonym" }, { "name": "PMM", "type": "synonym" }, { "name": "phosphomannomutase SEC53", "type": "synonym" } ], "gene_names": [ { "name": "SEC53", "type": "recommended" }, { "name": "ALG4", "type": "synonym" }, { "name": "SEC53", "type": "synonym" } ], "record_id": "P07283-1", "evidence": [ { "id": "0080552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080552" } ] }, { "uniprot_canonical_ac": "F7F1X7-1", "uniprot_ac": "F7F1X7", "uniprot_id": "F7F1X7_RAT", "refseq_ac": "NP_001100443", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Phosphomannomutase", "type": "recommended" }, { "name": "5.4.2.8", "type": "synonym" }, { "name": "phosphomannomutase 2", "type": "synonym" } ], "gene_names": [ { "name": "Pmm2", "type": "recommended" }, { "name": "Pmm2", "type": "synonym" } ], "record_id": "F7F1X7-1", "evidence": [ { "id": "0080552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080552" } ] }, { "uniprot_canonical_ac": "P01346-1", "uniprot_ac": "P01346", "uniprot_id": "IGF2_RAT", "refseq_ac": "NP_001177091", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Insulin-like growth factor 2", "type": "recommended" }, { "name": "IGF-II", "type": "synonym" }, { "name": "Insulin-like growth factor II (somatomedin A)", "type": "synonym" }, { "name": "Insulin-like growth factor II", "type": "synonym" }, { "name": "MSA", "type": "synonym" }, { "name": "Multiplication-stimulating activity", "type": "synonym" }, { "name": "Multiplication-stimulating polypeptide", "type": "synonym" }, { "name": "insulin-like growth factor 2 isoform 2 preproprotein", "type": "synonym" }, { "name": "insulin-like growth factor II (IGF-II)", "type": "synonym" }, { "name": "multiplication-stimulating activity", "type": "synonym" }, { "name": "multiplication-stimulating polypeptide", "type": "synonym" } ], "gene_names": [ { "name": "Igf2", "type": "recommended" }, { "name": "IGFII", "type": "synonym" }, { "name": "Igf-2", "type": "synonym" }, { "name": "Igf2", "type": "synonym" }, { "name": "RNIGF2", "type": "synonym" } ], "record_id": "P01346-1", "evidence": [ { "id": "0080552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080552" } ] }, { "uniprot_canonical_ac": "P15473-1", "uniprot_ac": "P15473", "uniprot_id": "IBP3_RAT", "refseq_ac": "NP_036720", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, 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"name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Insulin-like growth factor-binding protein complex acid labile subunit", "type": "recommended" }, { "name": "ALS", "type": "synonym" }, { "name": "insulin-like growth factor-binding protein complex acid labile chain", "type": "synonym" }, { "name": "insulin-like growth factor-binding protein complex acid labile subunit precursor", "type": "synonym" }, { "name": "insulin-like growth factor-binding protein complex acid labile subunit", "type": "synonym" } ], "gene_names": [ { "name": "Igfals", "type": "recommended" }, { "name": "Als", "type": "synonym" }, { "name": "Igfals", "type": "synonym" } ], "record_id": "P35859-1", "evidence": [ { "id": "0080552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080552" } ] }, { "uniprot_canonical_ac": "P08025-1", "uniprot_ac": "P08025", "uniprot_id": "IGF1_RAT", "refseq_ac": "NP_001075946", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Insulin-like growth factor 1", "type": "recommended" }, { "name": "IGF-I", "type": "synonym" }, { "name": "Insulin-like growth factor I", "type": "synonym" }, { "name": "Somatomedin", "type": "synonym" }, { "name": "insulin-like growth factor 1 isoform a preproprotein", "type": "synonym" }, { "name": "somatomedin", "type": "synonym" } ], "gene_names": [ { "name": "Igf1", "type": "recommended" }, { "name": "IGF", "type": "synonym" }, { "name": "Igf-1", "type": "synonym" }, { "name": "Igf1", "type": "synonym" } ], "record_id": "P08025-1", "evidence": [ { "id": "0080552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080552" } ] }, { "uniprot_canonical_ac": "Q9VTZ6-1", "uniprot_ac": "Q9VTZ6", "uniprot_id": 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"0080552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080552" } ] }, { "uniprot_canonical_ac": "A1Z9N6-1", "uniprot_ac": "A1Z9N6", "uniprot_id": "A1Z9N6_DROME", "refseq_ac": "NP_001286416", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Acid-labile subunit", "type": "synonym" }, { "name": "CG8561-PB", "type": "synonym" }, { "name": "Convoluted, isoform A", "type": "synonym" }, { "name": "Convoluted, isoform B", "type": "synonym" }, { "name": "acid labile substrate", "type": "synonym" }, { "name": "acid labile subunit", "type": "synonym" }, { "name": "conv-PB", "type": "synonym" }, { "name": "convoluted, isoform B", "type": "synonym" } ], "gene_names": [ { "name": "conv", "type": "recommended" }, { "name": "ALS", "type": "synonym" }, { "name": "Als", "type": "synonym" }, { "name": "CG8561", "type": "synonym" }, { "name": "CT24963", "type": "synonym" }, { "name": "Dmel\\CG8561", "type": "synonym" }, { "name": "Dmel_CG8561", "type": "synonym" }, { "name": "capricious-like", "type": "synonym" }, { "name": "conv", "type": "synonym" }, { "name": "dALS", "type": "synonym" }, { "name": "l(2)k06507b", "type": "synonym" }, { "name": "tartan/capricious-like", "type": "synonym" } ], "record_id": "A1Z9N6-1", "evidence": [ { "id": "0080552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080552" } ] }, { "uniprot_canonical_ac": "Q0KHN6-1", "uniprot_ac": "Q0KHN6", "uniprot_id": "Q0KHN6_DROME", "refseq_ac": "NP_001036303", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Chaoptin", "type": "recommended" }, { "name": "CG42346-PD", "type": "synonym" }, { "name": "uncharacterized protein, isoform D", "type": "synonym" } ], "gene_names": [ { "name": "CG40500", "type": "recommended" }, { "name": "CG40500-PA", "type": "synonym" }, { "name": "CG40500", "type": "synonym" }, { "name": "CG41105", "type": "synonym" }, { "name": "CG42346", "type": "synonym" }, { "name": "Dmel\\CG42346", "type": "synonym" }, { "name": "Dmel_CG42346", "type": "synonym" } ], "record_id": "Q0KHN6-1", "evidence": [ { "id": "0080552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080552" } ] }, { "uniprot_canonical_ac": "M9MSI4-1", "uniprot_ac": "M9MSI4", "uniprot_id": "M9MSI4_DROME", "refseq_ac": "NP_001188805", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG18095-PB", "type": "synonym" }, { "name": "Uncharacterized protein", "type": "synonym" }, { "name": "gp150-like", "type": "synonym" }, { "name": "uncharacterized protein, isoform B", "type": "synonym" } ], "gene_names": [ { "name": "DS05899.7", "type": "recommended" }, { "name": "BG:DS05899.7", "type": "synonym" }, { "name": "CG18095", "type": "synonym" }, { "name": "DS05899.7", "type": "synonym" }, { "name": "Dmel\\CG18095", "type": "synonym" }, { "name": "Dmel_CG18095", "type": "synonym" } ], "record_id": "M9MSI4-1", "evidence": [ { "id": "0080552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080552" } ] }, { "uniprot_canonical_ac": "Q9VPF0-1", "uniprot_ac": "Q9VPF0", "uniprot_id": "ATK_DROME", "refseq_ac": "NP_001262113", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Protein artichoke", "type": "recommended" }, { "name": "CG5195-PB", "type": "synonym" }, { "name": "artichoke, isoform B", "type": "synonym" }, { "name": "artichoke", "type": "synonym" }, { "name": "atk-PB", "type": "synonym" } ], "gene_names": [ { "name": "atk", "type": "recommended" }, { "name": "CG5195", "type": "synonym" }, { "name": "CT16609", "type": "synonym" }, { "name": "Dmel\\CG5195", "type": "synonym" }, { "name": "atk", "type": "synonym" }, { "name": "tartan/capricious-like", "type": "synonym" } ], "record_id": "Q9VPF0-1", "evidence": [ { "id": "0080552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080552" } ] }, { "uniprot_canonical_ac": "Q9VDD5-1", "uniprot_ac": "Q9VDD5", "uniprot_id": "Q9VDD5_DROME", "refseq_ac": "NP_650951", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG10824-PA", "type": "synonym" }, { "name": "Common Dpr-interacting protein", "type": 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dehydrogenase [quinone] 1", "type": "recommended" }, { "name": "1.6.5.2", "type": "synonym" }, { "name": "Azoreductase", "type": "synonym" }, { "name": "DT-diaphorase", "type": "synonym" }, { "name": "DTD", "type": "synonym" }, { "name": "Menadione reductase", "type": "synonym" }, { "name": "NAD(P)H dehydrogenase [quinone] 1 isoform a", "type": "synonym" }, { "name": "NAD(P)H dehydrogenase, quinone 1", "type": "synonym" }, { "name": "NAD(P)H-quinone oxidoreductase", "type": "synonym" }, { "name": "NAD(P)H:Quinone acceptor oxidoreductase type 1", "type": "synonym" }, { "name": "NAD(P)H:menadione oxidoreductase 1", "type": "synonym" }, { "name": "NAD(P)H:quinone oxidoreductase 1", "type": "synonym" }, { "name": "NAD(P)H:quinone oxireductase", "type": "synonym" }, { "name": "Phylloquinone reductase", "type": "synonym" }, { "name": "QR1", "type": "synonym" }, { "name": "Quinone reductase 1", "type": "synonym" }, { "name": "azoreductase", "type": "synonym" }, { "name": "diaphorase (NADH/NADPH) (cytochrome b-5 reductase)", "type": "synonym" }, { "name": "diaphorase-4", "type": "synonym" }, { "name": "dioxin-inducible 1", "type": "synonym" }, { "name": "menadione reductase", "type": "synonym" }, { "name": "phylloquinone reductase", "type": "synonym" }, { "name": "quinone reductase 1", "type": "synonym" } ], "gene_names": [ { "name": "NQO1", "type": "recommended" }, { "name": "DHQU", "type": "synonym" }, { "name": "DIA4", "type": "synonym" }, { "name": "DTD", "type": "synonym" }, { "name": "NMOR1", "type": "synonym" }, { "name": "NMORI", "type": "synonym" }, { "name": "NQO1", "type": "synonym" }, { "name": "QR1", "type": "synonym" } ], "record_id": "P15559-1", "evidence": [ { "id": "0080552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080552" } ] }, { "uniprot_canonical_ac": "P17936-1", "uniprot_ac": "P17936", "uniprot_id": "IBP3_HUMAN", "refseq_ac": "NP_000589", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Insulin-like growth factor-binding protein 3", "type": "recommended" }, { "name": "IBP-3", "type": "synonym" }, { "name": "IGF-binding protein 3", "type": "synonym" }, { "name": "IGFBP-3", "type": "synonym" }, { "name": "acid stable subunit of the 140 K IGF complex", "type": "synonym" }, { "name": "binding protein 29", "type": "synonym" }, { "name": "binding protein 53", "type": "synonym" }, { "name": "growth hormone-dependent binding protein", "type": "synonym" }, { "name": "insulin-like growth factor-binding protein 3 isoform b precursor", "type": "synonym" } ], "gene_names": [ { "name": "IGFBP3", "type": "recommended" }, { "name": "BP-53", "type": "synonym" }, { "name": "IBP-3", "type": "synonym" }, { "name": "IBP3", "type": "synonym" }, { "name": "IGFBP-3", "type": "synonym" }, { "name": "IGFBP3", "type": "synonym" } ], "record_id": "P17936-1", "evidence": [ { "id": "0080552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080552" } ] }, { "uniprot_canonical_ac": "P05019-1", "uniprot_ac": "P05019", "uniprot_id": "IGF1_HUMAN", "refseq_ac": "NP_000609", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Insulin-like growth factor 1", "type": "recommended" }, { "name": "IGF-I", "type": "synonym" }, { "name": "Insulin-like growth factor I", "type": "synonym" }, { "name": "MGF", "type": "synonym" }, { "name": "Mechano growth factor", "type": "synonym" }, { "name": "Somatomedin-C", "type": "synonym" }, { "name": "insulin-like growth factor 1 (somatomedin C)", "type": "synonym" }, { "name": "insulin-like growth factor 1 isoform 4 preproprotein", "type": "synonym" }, { "name": "insulin-like growth factor IB", "type": "synonym" }, { "name": "mechano growth factor", "type": "synonym" }, { "name": "somatomedin-C", "type": "synonym" } ], "gene_names": [ { "name": "IGF1", "type": "recommended" }, { "name": "IBP1", "type": "synonym" }, { "name": "IGF-1", "type": "synonym" }, { "name": "IGF-I", "type": "synonym" }, { "name": "IGF1", "type": "synonym" }, { "name": "IGFI", "type": "synonym" }, { "name": "IGF", "type": "synonym" }, { "name": "MGF", "type": "synonym" } ], "record_id": "P05019-1", "evidence": [ { "id": "0080552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080552" } ] }, { "uniprot_canonical_ac": "P35858-1", "uniprot_ac": "P35858", "uniprot_id": "ALS_HUMAN", "refseq_ac": "NP_001139478", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Insulin-like growth factor-binding protein complex acid labile subunit", "type": "recommended" }, { "name": "ALS", 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080552" } ] }, { "uniprot_canonical_ac": "Q92871-1", "uniprot_ac": "Q92871", "uniprot_id": "PMM1_HUMAN", "refseq_ac": "NP_002667", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Phosphomannomutase 1", "type": "recommended" }, { "name": "5.4.2.8", "type": "synonym" }, { "name": "PMM 1", "type": "synonym" }, { "name": "PMMH-22", "type": "synonym" }, { "name": "brain glucose-1,6-bisphosphatase", "type": "synonym" }, { "name": "phosphomannomutase 1", "type": "synonym" } ], "gene_names": [ { "name": "PMM1", "type": "recommended" }, { "name": "PMM 1", "type": "synonym" }, { "name": "PMM1", "type": "synonym" }, { "name": "PMMH-22", "type": "synonym" }, { "name": "PMMH22", "type": "synonym" }, { "name": "Sec53", "type": "synonym" } ], "record_id": "Q92871-1", "evidence": 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