{ "disease_id": "DOID:0050570", "recommended_name": { "id": "DOID:0050570", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050570", "name": "congenital disorder of glycosylation type I", "description": "A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins." }, "synonyms": [ { "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": "DOID:0080552", "label": "congenital disorder of glycosylation Ia", "link_status": true, "children": [] }, { "id": "DOID:0080553", "label": "congenital disorder of glycosylation Iaa", "link_status": true, "children": [] }, { "id": "DOID:0080554", "label": "congenital disorder of glycosylation Ib", "link_status": true, "children": [] }, { "id": "DOID:0080555", "label": "congenital disorder of glycosylation Ic", "link_status": true, "children": [] }, { "id": "DOID:0080556", "label": "congenital disorder of glycosylation Id", "link_status": true, "children": [] }, { "id": "DOID:0080557", "label": "congenital disorder of glycosylation Ie", "link_status": true, "children": [] }, { "id": "DOID:0080558", "label": "congenital disorder of glycosylation If", "link_status": true, "children": [] }, { "id": "DOID:0080559", "label": "congenital disorder of glycosylation Ig", "link_status": true, "children": [] }, { "id": "DOID:0080560", "label": "congenital disorder of glycosylation Ih", "link_status": true, "children": [] }, { "id": "DOID:0080561", "label": "congenital disorder of glycosylation Ii", "link_status": true, "children": [] }, { "id": "DOID:0080562", "label": "congenital disorder of glycosylation Ij", "link_status": true, "children": [] }, { "id": "DOID:0080563", "label": "congenital disorder of glycosylation Ik", "link_status": true, "children": [] }, { "id": "DOID:0080564", "label": "congenital disorder of glycosylation Il", "link_status": true, "children": [] }, { "id": "DOID:0080565", "label": "congenital disorder of glycosylation Im", "link_status": true, "children": [] }, { "id": "DOID:0080566", "label": "congenital disorder of glycosylation In", "link_status": true, "children": [] }, { "id": "DOID:0080567", "label": "congenital disorder of glycosylation Ip", "link_status": true, "children": [] }, { "id": "DOID:0080568", "label": "congenital disorder of glycosylation Iq", "link_status": true, "children": [] }, { "id": "DOID:0080569", "label": "congenital disorder of glycosylation Ir", "link_status": true, "children": [] }, { "id": "DOID:0080570", "label": "congenital disorder of glycosylation It", "link_status": true, "children": [] }, { "id": "DOID:0080571", "label": "congenital disorder of glycosylation Iu", "link_status": true, "children": [] }, { "id": "DOID:0080572", "label": "congenital disorder of glycosylation Iw", "link_status": true, "children": [] }, { "id": "DOID:0080573", "label": "congenital disorder of glycosylation Ix", "link_status": true, "children": [] }, { "id": "DOID:0080574", "label": "congenital disorder of glycosylation Iy", "link_status": true, "children": [] }, { "id": "DOID:0111839", "label": "congenital disorder of glycosylation Icc", "link_status": true, "children": [] } ], "id_list": [ "DOID:0111839", "DOID:0080568", "DOID:0080567", "DOID:0080557", "DOID:0080558", "DOID:0080572", "DOID:0080563", "DOID:0080574", "DOID:0080555", "DOID:0080556", "DOID:0080562", "DOID:0050570", "DOID:0080571", "DOID:0080553", "DOID:0080561", "DOID:0080559", "DOID:0080564", "DOID:0080554", "DOID:0080552", "DOID:0080566", "DOID:0080570", "DOID:0080573", "DOID:0080560", "DOID:0080565", "DOID:0080569" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0050570", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050570", "categories": [] }, { "id": "MONDO:0008907", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "categories": [] }, { "id": "MIM:212065", "database": "MIM", "url": "https://www.omim.org/entry/212065", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "O15305-1", "uniprot_ac": "O15305", "uniprot_id": "PMM2_HUMAN", "refseq_ac": "NP_000294", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Phosphomannomutase 2", "type": "recommended" }, { "name": "5.4.2.8", "type": "synonym" }, { "name": "PMM 2", "type": "synonym" }, { "name": "mannose-6-phosphate isomerase", "type": "synonym" }, { "name": "phosphomannomutase 2", "type": "synonym" }, { "name": "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": "212065", "database": "MIM", "url": "https://www.omim.org/entry/212065" }, { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q1LXA2-1", "uniprot_ac": "Q1LXA2", "uniprot_id": "Q1LXA2_DANRE", "refseq_ac": "NP_957103", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Dolichol-phosphate mannosyltransferase subunit 3", "type": "recommended" }, { "name": "dolichol-phosphate mannosyltransferase subunit 3", "type": "synonym" }, { "name": "dolichyl-phosphate mannosyltransferase polypeptide 3", "type": "synonym" } ], "gene_names": [ { "name": "dpm3", "type": "recommended" }, { "name": "dpm3", "type": "synonym" }, { "name": "zgc:73376", "type": "synonym" } ], "record_id": "Q1LXA2-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "A0A8M3AZY9-1", "uniprot_ac": "A0A8M3AZY9", "uniprot_id": "A0A8M3AZY9_DANRE", "refseq_ac": "XP_009300116", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Mannosyltransferase", "type": "recommended" }, { "name": "2.4.1.-", "type": "synonym" }, { "name": "alpha-1,2-mannosyltransferase ALG9 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "alg9", "type": "recommended" }, { "name": "alg9", "type": "synonym" }, { "name": "zgc:63820", "type": "synonym" } ], "record_id": "A0A8M3AZY9-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "A0A8M1NAE9-1", "uniprot_ac": "A0A8M1NAE9", "uniprot_id": "A0A8M1NAE9_DANRE", "refseq_ac": "NP_001038819", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Dolichyl-phosphate beta-glucosyltransferase", "type": "recommended" }, { "name": "2.4.1.117", "type": "synonym" }, { "name": "Asparagine-linked glycosylation protein 5 homolog", "type": "synonym" }, { "name": "asparagine-linked glycosylation 5 (dolichyl-phosphate beta-glucosyltransferase)", "type": "synonym" }, { "name": "asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)", "type": "synonym" }, { "name": "dolichyl-phosphate beta-glucosyltransferase", "type": "synonym" } ], "gene_names": [ { "name": "alg5", "type": "recommended" }, { "name": "alg5", "type": "synonym" }, { "name": "wu:fk42e01", "type": "synonym" }, { "name": "zgc:153378", "type": "synonym" } ], "record_id": "A0A8M1NAE9-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "A0AC58JR12-1", "uniprot_ac": "A0AC58JR12", "uniprot_id": "A0AC58JR12_DANRE", "refseq_ac": "XP_073808934", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Alpha-1,3-glucosyltransferase", "type": "recommended" }, { "name": "2.4.1.-", "type": "synonym" }, { "name": "dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "alg6", "type": "recommended" }, { "name": "alg6", "type": "synonym" }, { "name": "zgc:100813", "type": "synonym" } ], "record_id": "A0AC58JR12-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q5RIU9-1", "uniprot_ac": "Q5RIU9", "uniprot_id": "SR5A3_DANRE", "refseq_ac": "NP_001038404", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Polyprenal reductase", "type": "recommended" }, { "name": "1.3.1.22", "type": "synonym" }, { "name": "1.3.1.94", "type": "synonym" }, { "name": "3-oxo-5-alpha-steroid 4-dehydrogenase 3", "type": "synonym" }, { "name": "S5AR 3", "type": "synonym" }, { "name": "SR type 3", "type": "synonym" }, { "name": "Steroid 5-alpha-reductase 3", "type": "synonym" }, { "name": "polyprenal reductase", "type": "synonym" }, { "name": "probable polyprenol reductase", "type": "synonym" } ], "gene_names": [ { "name": "srd5a3", "type": "recommended" }, { "name": "S5AR 3", "type": "synonym" }, { "name": "fj40g12", "type": "synonym" }, { "name": "si:ch211-278f21.3", "type": "synonym" }, { "name": "srd5a2l", "type": "synonym" }, { "name": "srd5a3", "type": "synonym" }, { "name": "wu:fj40g12", "type": "synonym" } ], "record_id": "Q5RIU9-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "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", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Phosphomannomutase 2", "type": "recommended" }, { "name": "5.4.2.8", "type": "synonym" }, { "name": "PMM 2", "type": "synonym" }, { "name": "phosphomannomutase 2 isoform 1", "type": "synonym" } ], "gene_names": [ { "name": "Pmm2", "type": "recommended" }, { "name": "Pmm2", "type": "synonym" } ], "record_id": "Q9Z2M7-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q924M7-1", "uniprot_ac": "Q924M7", "uniprot_id": "MPI_MOUSE", "refseq_ac": "NP_080113", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Mannose-6-phosphate isomerase", "type": "recommended" }, { "name": "5.3.1.8", "type": "synonym" }, { "name": "PMI", "type": "synonym" }, { "name": "Phosphohexomutase", "type": "synonym" }, { "name": "Phosphomannose isomerase", "type": "synonym" }, { "name": "mannose phosphate isomerase 1", "type": "synonym" }, { "name": "mannose-6-phosphate isomerase", "type": "synonym" }, { "name": "phosphohexomutase", "type": "synonym" }, { "name": "phosphomannose isomerase", "type": "synonym" } ], "gene_names": [ { "name": "Mpi", "type": "recommended" }, { "name": "1110002E17Rik", "type": "synonym" }, { "name": "Mpi-1", "type": "synonym" }, { "name": "Mpi1", "type": "synonym" }, { "name": "Mpi", "type": "synonym" }, { "name": "Pmi", "type": "synonym" } ], "record_id": "Q924M7-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q9D1Q4-1", "uniprot_ac": "Q9D1Q4", "uniprot_id": "DPM3_MOUSE", "refseq_ac": "NP_081043", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Dolichol-phosphate mannosyltransferase subunit 3", "type": "recommended" }, { "name": "DPM synthase complex subunit 3", "type": "synonym" }, { "name": "DPM synthase subunit 3", "type": "synonym" }, { "name": "Dolichol-phosphate mannose synthase subunit 3", "type": "synonym" }, { "name": "Dolichyl-phosphate beta-D-mannosyltransferase subunit 3", "type": "synonym" }, { "name": "MPD synthase subunit 3", "type": "synonym" }, { "name": "Mannose-P-dolichol synthase subunit 3", "type": "synonym" }, { "name": "dolichol-phosphate mannose synthase subunit 3", "type": "synonym" }, { "name": "dolichol-phosphate mannosyltransferase subunit 3", "type": "synonym" }, { "name": "dolichyl-phosphate beta-D-mannosyltransferase subunit 3", "type": "synonym" }, { "name": "mannose-P-dolichol synthase subunit 3", "type": "synonym" } ], "gene_names": [ { "name": "Dpm3", "type": "recommended" }, { "name": "1110001H19Rik", "type": "synonym" }, { "name": "Dpm3", "type": "synonym" } ], "record_id": "Q9D1Q4-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "O35621-1", "uniprot_ac": "O35621", "uniprot_id": "PMM1_MOUSE", "refseq_ac": "NP_038900", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Phosphomannomutase 1", "type": "recommended" }, { "name": "5.4.2.8", "type": "synonym" }, { "name": "PMM 1", "type": "synonym" }, { "name": "Secp53 homolog", "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": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q8C3B8-1", "uniprot_ac": "Q8C3B8", "uniprot_id": "RFT1_MOUSE", "refseq_ac": "NP_808483", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1", "type": "recommended" }, { "name": "Protein RFT1 homolog", "type": "synonym" }, { "name": "man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1 isoform 1", "type": "synonym" }, { "name": "man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1", "type": "synonym" }, { "name": "protein RFT1 homolog", "type": "synonym" } ], "gene_names": [ { "name": "Rft1", "type": "recommended" }, { "name": "D930025H04", "type": "synonym" }, { "name": "Rft1", "type": "synonym" } ], "record_id": "Q8C3B8-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q3TAE8-1", "uniprot_ac": "Q3TAE8", "uniprot_id": "ALG6_MOUSE", "refseq_ac": "NP_001074733", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase", "type": "recommended" }, { "name": "2.4.1.267", "type": "synonym" }, { "name": "Asparagine-linked glycosylation protein 6 homolog", "type": "synonym" }, { "name": "Dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase", "type": "synonym" }, { "name": "Dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase", "type": "synonym" }, { "name": "asparagine-linked glycosylation 6 (alpha-1,3,-glucosyltransferase)", "type": "synonym" }, { "name": "asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3,-glucosyltransferase)", "type": "synonym" }, { "name": "asparagine-linked glycosylation protein 6 homolog", "type": "synonym" }, { "name": "dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase", "type": "synonym" }, { "name": "dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase precursor", "type": "synonym" }, { "name": "dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase", "type": "synonym" }, { "name": "dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase", "type": "synonym" } ], "gene_names": [ { "name": "Alg6", "type": "recommended" }, { "name": "Alg6", "type": "synonym" }, { "name": "E230028F23Rik", "type": "synonym" } ], "record_id": "Q3TAE8-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q921Q3-1", "uniprot_ac": "Q921Q3", "uniprot_id": "ALG1_MOUSE", "refseq_ac": "NP_663337", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Chitobiosyldiphosphodolichol beta-mannosyltransferase", "type": "recommended" }, { "name": "2.4.1.142", "type": "synonym" }, { "name": "Asparagine-linked glycosylation protein 1 homolog", "type": "synonym" }, { "name": "Beta-1,4-mannosyltransferase", "type": "synonym" }, { "name": "GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase", "type": "synonym" }, { "name": "GDP-mannose-dolichol diphosphochitobiose mannosyltransferase", "type": "synonym" }, { "name": "asparagine-linked glycosylation 1 (beta-1,4-mannosyltransferase)", "type": "synonym" }, { "name": "asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)", "type": "synonym" }, { "name": "asparagine-linked glycosylation protein 1 homolog", "type": "synonym" }, { "name": "beta-1,4 mannosyltransferase", "type": "synonym" }, { "name": "chitobiosyldiphosphodolichol beta-mannosyltransferase", "type": "synonym" } ], "gene_names": [ { "name": "Alg1", "type": "recommended" }, { "name": "Alg1", "type": "synonym" }, { "name": "HMAT1", "type": "synonym" }, { "name": "HMT1", "type": "synonym" } ], "record_id": "Q921Q3-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q9WUP4-1", "uniprot_ac": "Q9WUP4", "uniprot_id": "SR5A3_MOUSE", "refseq_ac": "NP_065636", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Polyprenal reductase", "type": "recommended" }, { "name": "1.3.1.22", "type": "synonym" }, { "name": "1.3.1.94", "type": "synonym" }, { "name": "3-oxo-5-alpha-steroid 4-dehydrogenase 3", "type": "synonym" }, { "name": "H5AR gene", "type": "synonym" }, { "name": "H5AR", "type": "synonym" }, { "name": "S5AR 3", "type": "synonym" }, { "name": "SR type 3", "type": "synonym" }, { "name": "Steroid 5-alpha-reductase 2-like", "type": "synonym" }, { "name": "Steroid 5-alpha-reductase 3", "type": "synonym" }, { "name": "polyprenal reductase", "type": "synonym" }, { "name": "probable polyprenol reductase", "type": "synonym" }, { "name": "steroid 5 alpha-reductase 2 like", "type": "synonym" }, { "name": "steroid 5 alpha-reductase 2-like", "type": "synonym" } ], "gene_names": [ { "name": "Srd5a3", "type": "recommended" }, { "name": "1110025P14Rik", "type": "synonym" }, { "name": "A430076C09", "type": "synonym" }, { "name": "D730040M03Rik", "type": "synonym" }, { "name": "H5ar", "type": "synonym" }, { "name": "S5AR 3", "type": "synonym" }, { "name": "Srd5a2l", "type": "synonym" }, { "name": "Srd5a3", "type": "synonym" } ], "record_id": "Q9WUP4-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q9DB25-1", "uniprot_ac": "Q9DB25", "uniprot_id": "ALG5_MOUSE", "refseq_ac": "NP_079718", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Dolichyl-phosphate beta-glucosyltransferase", "type": "recommended" }, { "name": "2.4.1.117", "type": "synonym" }, { "name": "Alg5 homolog", "type": "synonym" }, { "name": "Asparagine-linked glycosylation protein 5 homolog", "type": "synonym" }, { "name": "DolP-glucosyltransferase", "type": "synonym" }, { "name": "asparagine-linked glycosylation 5 (dolichyl-phosphate beta-glucosyltransferase)", "type": "synonym" }, { "name": "asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)", "type": "synonym" }, { "name": "asparagine-linked glycosylation protein 5 homolog", "type": "synonym" }, { "name": "dolP-glucosyltransferase", "type": "synonym" }, { "name": "dolichyl-phosphate beta-glucosyltransferase", "type": "synonym" } ], "gene_names": [ { "name": "Alg5", "type": "recommended" }, { "name": "1500026A19Rik", "type": "synonym" }, { "name": "2600005J22Rik", "type": "synonym" }, { "name": "Alg5", "type": "synonym" } ], "record_id": "Q9DB25-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q8VDB2-1", "uniprot_ac": "Q8VDB2", "uniprot_id": "ALG12_MOUSE", "refseq_ac": "NP_001135829", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase", "type": "recommended" }, { "name": "2.4.1.260", "type": "synonym" }, { "name": "Asparagine-linked glycosylation protein 12 homolog", "type": "synonym" }, { "name": "Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase", "type": "synonym" }, { "name": "Mannosyltransferase ALG12 homolog", "type": "synonym" }, { "name": "asparagine-linked glycosylation 12 (alpha-1,6-mannosyltransferase)", "type": "synonym" }, { "name": "asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)", "type": "synonym" }, { "name": "asparagine-linked glycosylation protein 12 homolog", "type": "synonym" }, { "name": "dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase isoform 1", "type": "synonym" }, { "name": "dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase", "type": "synonym" }, { "name": "dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1, 6-mannosyltransferase", "type": "synonym" }, { "name": "mannosyltransferase ALG12 homolog", "type": "synonym" } ], "gene_names": [ { "name": "Alg12", "type": "recommended" }, { "name": "Alg12", "type": "synonym" }, { "name": "ECM39", "type": "synonym" } ], "record_id": "Q8VDB2-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q8R2Y3-1", "uniprot_ac": "Q8R2Y3", "uniprot_id": "DOLK_MOUSE", "refseq_ac": "NP_808316", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Dolichol kinase", "type": "recommended" }, { "name": "2.7.1.108", "type": "synonym" }, { "name": "Transmembrane protein 15", "type": "synonym" }, { "name": "dolichol kinase", "type": "synonym" }, { "name": "transmembrane protein 15", "type": "synonym" } ], "gene_names": [ { "name": "Dolk", "type": "recommended" }, { "name": "Dolk", "type": "synonym" }, { "name": "Tmem15", "type": "synonym" }, { "name": "mKIAA1094", "type": "synonym" } ], "record_id": "Q8R2Y3-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q6P8H8-1", "uniprot_ac": "Q6P8H8", "uniprot_id": "ALG8_MOUSE", "refseq_ac": "NP_950200", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase", "type": "recommended" }, { "name": "2.4.1.265", "type": "synonym" }, { "name": "Asparagine-linked glycosylation protein 8 homolog", "type": "synonym" }, { "name": "Dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase", "type": "synonym" }, { "name": "Dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase", "type": "synonym" }, { "name": "asparagine-linked glycosylation 8 (alpha-1,3-glucosyltransferase)", "type": "synonym" }, { "name": "asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)", "type": "synonym" }, { "name": "asparagine-linked glycosylation protein 8 homolog", "type": "synonym" }, { "name": "dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase", "type": "synonym" }, { "name": "dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase", "type": "synonym" }, { "name": "dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase", "type": "synonym" }, { "name": "probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase", "type": "synonym" } ], "gene_names": [ { "name": "Alg8", "type": "recommended" }, { "name": "Alg8", "type": "synonym" }, { "name": "Gm1089", "type": "synonym" } ], "record_id": "Q6P8H8-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q8VDI9-1", "uniprot_ac": "Q8VDI9", "uniprot_id": "ALG9_MOUSE", "refseq_ac": "NP_598742", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Alpha-1,2-mannosyltransferase ALG9", "type": "recommended" }, { "name": "2.4.1.259", "type": "synonym" }, { "name": "2.4.1.261", "type": "synonym" }, { "name": "Dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase", "type": "synonym" }, { "name": "Dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase", "type": "synonym" }, { "name": "alpha-1,2-mannosyltransferase ALG9", "type": "synonym" }, { "name": "asparagine-linked glycosylation 9 (alpha 1,2 mannosyltransferase)", "type": "synonym" }, { "name": "asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)", "type": "synonym" }, { "name": "asparagine-linked glycosylation 9 protein", "type": "synonym" }, { "name": "asparagine-linked glycosylation protein 9 homolog", "type": "synonym" }, { "name": "disrupted in bipolar disorder 1 homolog", "type": "synonym" }, { "name": "disrupted in bipolar disorder protein 1 homolog", "type": "synonym" }, { "name": "dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase", "type": "synonym" }, { "name": "dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase", "type": "synonym" } ], "gene_names": [ { "name": "Alg9", "type": "recommended" }, { "name": "8230402H15Rik", "type": "synonym" }, { "name": "Alg9", "type": "synonym" }, { "name": "B430313H07Rik", "type": "synonym" }, { "name": "Dibd1", "type": "synonym" } ], "record_id": "Q8VDI9-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "O70152-1", "uniprot_ac": "O70152", "uniprot_id": "DPM1_MOUSE", "refseq_ac": "NP_001297013", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Dolichol-phosphate mannosyltransferase subunit 1", "type": "recommended" }, { "name": "2.4.1.83", "type": "synonym" }, { "name": "DPM synthase subunit 1", "type": "synonym" }, { "name": "Dolichol-phosphate mannose synthase subunit 1", "type": "synonym" }, { "name": "Dolichyl-phosphate beta-D-mannosyltransferase subunit 1", "type": "synonym" }, { "name": "MPD synthase", "type": "synonym" }, { "name": "Mannose-P-dolichol synthase subunit 1", "type": "synonym" }, { "name": "dolichol-phosphate (beta-D) mannosyltransferase 1", "type": "synonym" }, { "name": "dolichol-phosphate mannose synthase subunit 1", "type": "synonym" }, { "name": "dolichol-phosphate mannosyltransferase subunit 1 isoform 2", "type": "synonym" }, { "name": "dolichyl-phosphate beta-D-mannosyltransferase subunit 1", "type": "synonym" }, { "name": "mannose-P-dolichol synthase subunit 1", "type": "synonym" } ], "gene_names": [ { "name": "Dpm1", "type": "recommended" }, { "name": "Dpm1", "type": "synonym" } ], "record_id": "O70152-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q9Z324-1", "uniprot_ac": "Q9Z324", "uniprot_id": "DPM2_MOUSE", "refseq_ac": "NP_034203", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Dolichol phosphate-mannose biosynthesis regulatory protein", "type": "recommended" }, { "name": "DPM synthase subunit 2", "type": "synonym" }, { "name": "Dolichol-phosphate mannose synthase subunit 2", "type": "synonym" }, { "name": "dolichol phosphate-mannose biosynthesis regulatory protein", "type": "synonym" }, { "name": "dolichol-phosphate (beta-D) mannosyltransferase 2", "type": "synonym" }, { "name": "dolichol-phosphate mannose synthase subunit 2", "type": "synonym" } ], "gene_names": [ { "name": "Dpm2", "type": "recommended" }, { "name": "Dpm2", "type": "synonym" } ], "record_id": "Q9Z324-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "P16661-1", "uniprot_ac": "P16661", "uniprot_id": "ALG1_YEAST", "refseq_ac": "NP_009668", "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": "Chitobiosyldiphosphodolichol beta-mannosyltransferase", "type": "recommended" }, { "name": "2.4.1.142", "type": "synonym" }, { "name": "Asparagine-linked glycosylation protein 1", "type": "synonym" }, { "name": "Beta-1,4-mannosyltransferase", "type": "synonym" }, { "name": "GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase", "type": "synonym" }, { "name": "GDP-mannose-dolichol diphosphochitobiose mannosyltransferase", "type": "synonym" }, { "name": "chitobiosyldiphosphodolichol beta-1,4 mannosyltransferase", "type": "synonym" } ], "gene_names": [ { "name": "ALG1", "type": "recommended" }, { "name": "ALG1", "type": "synonym" }, { "name": "YBR0906", "type": "synonym" } ], "record_id": "P16661-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q12001-1", "uniprot_ac": "Q12001", "uniprot_id": "ALG6_YEAST", "refseq_ac": "NP_014644", "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": "Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase", "type": "recommended" }, { "name": "2.4.1.267", "type": "synonym" }, { "name": "Asparagine-linked glycosylation protein 6", "type": "synonym" }, { "name": "Dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase", "type": "synonym" }, { "name": "Dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase", "type": "synonym" }, { "name": "dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha-1,3-glucosyltransferase", "type": "synonym" } ], "gene_names": [ { "name": "ALG6", "type": "recommended" }, { "name": "ALG6", "type": "synonym" }, { "name": "UNA544", "type": "synonym" } ], "record_id": "Q12001-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "P53868-1", "uniprot_ac": "P53868", "uniprot_id": "ALG9_YEAST", "refseq_ac": "NP_014180", "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": "Alpha-1,2-mannosyltransferase ALG9", "type": "recommended" }, { "name": "2.4.1.259", "type": "synonym" }, { "name": "2.4.1.261", "type": "synonym" }, { "name": "Asparagine-linked glycosylation protein 9", "type": "synonym" }, { "name": "Dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase", "type": "synonym" }, { "name": "Dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase", "type": "synonym" }, { "name": "dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "type": "synonym" } ], "gene_names": [ { "name": "ALG9", "type": "recommended" }, { "name": "ALG9", "type": "synonym" }, { "name": "N1295", "type": "synonym" } ], "record_id": "P53868-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "P40526-1", "uniprot_ac": "P40526", "uniprot_id": "DFG10_YEAST", "refseq_ac": "NP_012215", "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": "Polyprenal reductase", "type": "recommended" }, { "name": "1.3.1.94", "type": "synonym" }, { "name": "putative polyprenol reductase", "type": "synonym" } ], "gene_names": [ { "name": "DFG10", "type": "recommended" }, { "name": "DFG10", "type": "synonym" } ], "record_id": "P40526-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "P38206-1", "uniprot_ac": "P38206", "uniprot_id": "RFT1_YEAST", "refseq_ac": "NP_009533", "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": "Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1", "type": "recommended" }, { "name": "Requiring fifty-three protein 1", "type": "synonym" }, { "name": "glycolipid translocation protein", "type": "synonym" } ], "gene_names": [ { "name": "RFT1", "type": "recommended" }, { "name": "RFT1", "type": "synonym" }, { "name": "YBL0442", "type": "synonym" } ], "record_id": "P38206-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "P40350-1", "uniprot_ac": "P40350", "uniprot_id": "ALG5_YEAST", "refseq_ac": "NP_015097", "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": "Dolichyl-phosphate beta-glucosyltransferase", "type": "recommended" }, { "name": "2.4.1.117", "type": "synonym" }, { "name": "Asparagine-linked glycosylation protein 5", "type": "synonym" }, { "name": "DolP-glucosyltransferase", "type": "synonym" }, { "name": "dolichyl-phosphate beta-glucosyltransferase", "type": "synonym" } ], "gene_names": [ { "name": "ALG5", "type": "recommended" }, { "name": "ALG5", "type": "synonym" }, { "name": "P1437", "type": "synonym" } ], "record_id": "P40350-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "P53730-1", "uniprot_ac": "P53730", "uniprot_id": "ALG12_YEAST", "refseq_ac": "NP_014427", "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": "Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase", "type": "recommended" }, { "name": "2.4.1.260", "type": "synonym" }, { "name": "Asparagine-linked glycosylation protein 12", "type": "synonym" }, { "name": "Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase", "type": "synonym" }, { "name": "Extracellular mutant protein 39", "type": "synonym" }, { "name": "Mannosyltransferase ALG12", "type": "synonym" }, { "name": "dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase", "type": "synonym" } ], "gene_names": [ { "name": "ALG12", "type": "recommended" }, { "name": "ALG12", "type": "synonym" }, { "name": "ECM39", "type": "synonym" }, { "name": "N3265", "type": "synonym" } ], "record_id": "P53730-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "P40351-1", "uniprot_ac": "P40351", "uniprot_id": "ALG8_YEAST", "refseq_ac": "NP_014710", "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": "Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase", "type": "recommended" }, { "name": "2.4.1.265", "type": "synonym" }, { "name": "Asparagine-linked glycosylation protein 8", "type": "synonym" }, { "name": "Dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl alpha-1,3-glucosyltransferase", "type": "synonym" }, { "name": "Dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase", "type": "synonym" }, { "name": "dolichyl-P-Glc:Glc1Man(9)GlcNAc(2)-PP-dolichol alpha-1,3-glucosyltransferase", "type": "synonym" } ], "gene_names": [ { "name": "ALG8", "type": "recommended" }, { "name": "ALG8", "type": "synonym" }, { "name": "YOR29-18", "type": "synonym" } ], "record_id": "P40351-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "P20048-1", "uniprot_ac": "P20048", "uniprot_id": "DOLK_YEAST", "refseq_ac": "NP_013726", "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": "Dolichol kinase", "type": "recommended" }, { "name": "2.7.1.108", "type": "synonym" }, { "name": "dolichol kinase", "type": "synonym" } ], "gene_names": [ { "name": "SEC59", "type": "recommended" }, { "name": "SEC59", "type": "synonym" }, { "name": "YM8270.17C", "type": "synonym" } ], "record_id": "P20048-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "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": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "P14020-1", "uniprot_ac": "P14020", "uniprot_id": "DPM1_YEAST", "refseq_ac": "NP_015509", "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": "Dolichol-phosphate mannosyltransferase", "type": "recommended" }, { "name": "2.4.1.83", "type": "synonym" }, { "name": "DPM synthase", "type": "synonym" }, { "name": "Dolichol-phosphate mannose synthase", "type": "synonym" }, { "name": "Dolichyl-phosphate beta-D-mannosyltransferase", "type": "synonym" }, { "name": "MPD synthase", "type": "synonym" }, { "name": "Mannose-P-dolichol synthase", "type": "synonym" }, { "name": "dolichyl-phosphate beta-D-mannosyltransferase", "type": "synonym" } ], "gene_names": [ { "name": "DPM1", "type": "recommended" }, { "name": "DPM1", "type": "synonym" }, { "name": "P9705.3", "type": "synonym" }, { "name": "SED3", "type": "synonym" } ], "record_id": "P14020-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "P29952-1", "uniprot_ac": "P29952", "uniprot_id": "MPI_YEAST", "refseq_ac": "NP_010918", "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": "Mannose-6-phosphate isomerase", "type": "recommended" }, { "name": "5.3.1.8", "type": "synonym" }, { "name": "PMI", "type": "synonym" }, { "name": "Phosphohexomutase", "type": "synonym" }, { "name": "Phosphomannose isomerase", "type": "synonym" }, { "name": "mannose-6-phosphate isomerase PMI40", "type": "synonym" } ], "gene_names": [ { "name": "PMI40", "type": "recommended" }, { "name": "PMI40", "type": "synonym" } ], "record_id": "P29952-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "D3ZIJ5-1", "uniprot_ac": "D3ZIJ5", "uniprot_id": "D3ZIJ5_RAT", "refseq_ac": "NP_001102801", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Dolichol-phosphate mannosyltransferase subunit 3", "type": "recommended" }, { "name": "dolichol-phosphate mannosyltransferase subunit 3", "type": "synonym" }, { "name": "dolichyl-phosphate mannosyltransferase polypeptide 3", "type": "synonym" } ], "gene_names": [ { "name": "Dpm3", "type": "recommended" }, { "name": "Dpm3-ps1", "type": "synonym" }, { "name": "Dpm3", "type": "synonym" }, { "name": "LOC100910177", "type": "synonym" }, { "name": "RGD1561807", "type": "synonym" } ], "record_id": "D3ZIJ5-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "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": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "D4A6W4-1", "uniprot_ac": "D4A6W4", "uniprot_id": "D4A6W4_RAT", "refseq_ac": "NP_001129338", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Protein RFT1 homolog", "type": "recommended" }, { "name": "RFT1 homolog", "type": "synonym" }, { "name": "protein RFT1 homolog", "type": "synonym" } ], "gene_names": [ { "name": "Rft1", "type": "recommended" }, { "name": "RGD1562654", "type": "synonym" }, { "name": "Rft1", "type": "synonym" } ], "record_id": "D4A6W4-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "E9PT91-1", "uniprot_ac": "E9PT91", "uniprot_id": "E9PT91_RAT", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Alpha-1,3-glucosyltransferase", "type": "recommended" }, { "name": "2.4.1.-", "type": "synonym" } ], "gene_names": [ { "name": "Alg8", "type": "recommended" } ], "record_id": "E9PT91-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q3T1L5-1", "uniprot_ac": "Q3T1L5", "uniprot_id": "ALG6_RAT", "refseq_ac": "NP_001028881", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase", "type": "recommended" }, { "name": "2.4.1.267", "type": "synonym" }, { "name": "Asparagine-linked glycosylation protein 6 homolog", "type": "synonym" }, { "name": "Dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase", "type": "synonym" }, { "name": "Dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase", "type": "synonym" }, { "name": "asparagine-linked glycosylation 6 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)", "type": "synonym" }, { "name": "asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3,-glucosyltransferase)", "type": "synonym" }, { "name": "asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog", "type": "synonym" }, { "name": "asparagine-linked glycosylation protein 6 homolog", "type": "synonym" }, { "name": "dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase", "type": "synonym" }, { "name": "dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase precursor", "type": "synonym" }, { "name": "dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase", "type": "synonym" }, { "name": "dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase", "type": "synonym" } ], "gene_names": [ { "name": "Alg6", "type": "recommended" }, { "name": "Alg6", "type": "synonym" } ], "record_id": "Q3T1L5-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q5RJM1-1", "uniprot_ac": "Q5RJM1", "uniprot_id": "SR5A3_RAT", "refseq_ac": "NP_001014012", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Polyprenal reductase", "type": "recommended" }, { "name": "1.3.1.22", "type": "synonym" }, { "name": "1.3.1.94", "type": "synonym" }, { "name": "3-oxo-5-alpha-steroid 4-dehydrogenase 3", "type": "synonym" }, { "name": "S5AR 3", "type": "synonym" }, { "name": "SR type 3", "type": "synonym" }, { "name": "Steroid 5-alpha-reductase 3", "type": "synonym" }, { "name": "polyprenal reductase isoform 1", "type": "synonym" }, { "name": "polyprenal reductase", "type": "synonym" }, { "name": "probable polyprenol reductase", "type": "synonym" } ], "gene_names": [ { "name": "Srd5a3", "type": "recommended" }, { "name": "RGD1308828", "type": "synonym" }, { "name": "S5AR 3", "type": "synonym" }, { "name": "Srd5a3", "type": "synonym" } ], "record_id": "Q5RJM1-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "D3ZLM6-1", "uniprot_ac": "D3ZLM6", "uniprot_id": "D3ZLM6_RAT", "refseq_ac": "NP_001101296", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "dolichol kinase", "type": "recommended" }, { "name": "2.7.1.108", "type": "synonym" }, { "name": "dolichol kinase", "type": "synonym" }, { "name": "transmembrane protein 15", "type": "synonym" } ], "gene_names": [ { "name": "Dolk", "type": "recommended" }, { "name": "Dolk", "type": "synonym" }, { "name": "Tmem15", "type": "synonym" } ], "record_id": "D3ZLM6-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "A0ABK0LJG1-1", "uniprot_ac": "A0ABK0LJG1", "uniprot_id": "A0ABK0LJG1_RAT", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Mannosyltransferase", "type": "recommended" }, { "name": "2.4.1.-", "type": "synonym" } ], "gene_names": [ { "name": "Alg9", "type": "recommended" }, { "name": "Fdxacb1", "type": "recommended" }, { "name": "Alg9", "type": "synonym" } ], "record_id": "A0ABK0LJG1-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "D4A5S6-1", "uniprot_ac": "D4A5S6", "uniprot_id": "D4A5S6_RAT", "refseq_ac": "NP_001101734", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Chitobiosyldiphosphodolichol beta-mannosyltransferase", "type": "recommended" }, { "name": "2.4.1.142", "type": "synonym" }, { "name": "Asparagine-linked glycosylation protein 1 homolog", "type": "synonym" }, { "name": "Beta-1,4-mannosyltransferase", "type": "synonym" }, { "name": "GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase", "type": "synonym" }, { "name": "GDP-mannose-dolichol diphosphochitobiose mannosyltransferase", "type": "synonym" }, { "name": "asparagine-linked glycosylation 1 homolog (S. cerevisiae, beta-1,4-mannosyltransferase)", "type": "synonym" }, { "name": "asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)", "type": "synonym" }, { "name": "asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog", "type": "synonym" }, { "name": "chitobiosyldiphosphodolichol beta-mannosyltransferase", "type": "synonym" } ], "gene_names": [ { "name": "Alg1", "type": "recommended" }, { "name": "Alg1", "type": "synonym" } ], "record_id": "D4A5S6-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q68FX1-1", "uniprot_ac": "Q68FX1", "uniprot_id": "MPI_RAT", "refseq_ac": "NP_001004081", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Mannose-6-phosphate isomerase", "type": "recommended" }, { "name": "5.3.1.8", "type": "synonym" }, { "name": "PMI", "type": "synonym" }, { "name": "Phosphohexomutase", "type": "synonym" }, { "name": "Phosphomannose isomerase", "type": "synonym" }, { "name": "mannose-6-phosphate isomerase", "type": "synonym" }, { "name": "phosphohexomutase", "type": "synonym" }, { "name": "phosphomannose isomerase", "type": "synonym" } ], "gene_names": [ { "name": "Mpi", "type": "recommended" }, { "name": "Mpi", "type": "synonym" } ], "record_id": "Q68FX1-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "D4A8N1-1", "uniprot_ac": "D4A8N1", "uniprot_id": "D4A8N1_RAT", "refseq_ac": "NP_001100014", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Dolichol-phosphate mannosyltransferase subunit 1", "type": "recommended" }, { "name": "2.4.1.83", "type": "synonym" }, { "name": "dolichol-phosphate (beta-D) mannosyltransferase 1", "type": "synonym" }, { "name": "dolichol-phosphate mannosyltransferase subunit 1", "type": "synonym" }, { "name": "dolichyl-phosphate mannosyltransferase 1", "type": "synonym" }, { "name": "dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit", "type": "synonym" } ], "gene_names": [ { "name": "Dpm1", "type": "recommended" }, { "name": "Dpm1", "type": "synonym" } ], "record_id": "D4A8N1-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "P97840-1", "uniprot_ac": "P97840", "uniprot_id": "LEG9_RAT", "refseq_ac": "NP_037109", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Galectin-9", "type": "recommended" }, { "name": "36 kDa beta-galactoside-binding lectin", "type": "synonym" }, { "name": "Gal-9", "type": "synonym" }, { "name": "Lectin, galactose binding, soluble 9 (Galectin-9)", "type": "synonym" }, { "name": "UAT", "type": "synonym" }, { "name": "Urate transporter/channel", "type": "synonym" }, { "name": "gal-9", "type": "synonym" }, { "name": "galectin-9 isoform 2", "type": "synonym" }, { "name": "lectin, galactoside-binding, soluble, 9", "type": "synonym" }, { "name": "urate transporter/channel", "type": "synonym" } ], "gene_names": [ { "name": "Lgals9", "type": "recommended" }, { "name": "Lgals9", "type": "synonym" }, { "name": "UAT", "type": "synonym" } ], "record_id": "P97840-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "P16235-1", "uniprot_ac": "P16235", "uniprot_id": "LSHR_RAT", "refseq_ac": "NP_037110", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Lutropin-choriogonadotropic hormone receptor", "type": "recommended" }, { "name": "LH receptor", "type": "synonym" }, { "name": "LH/CG receptor", "type": "synonym" }, { "name": "LH/CG-R", "type": "synonym" }, { "name": "LSH-R", "type": "synonym" }, { "name": "Luteinizing hormone receptor", "type": "synonym" }, { "name": "luteinizing hormone receptor", "type": "synonym" }, { "name": "luteinizing hormone/chorionic gonadotropin receptor", "type": "synonym" }, { "name": "lutropin-choriogonadotropic hormone receptor isoform 1 precursor", "type": "synonym" }, { "name": "lutropin-choriogonadotropic hormone receptor", "type": "synonym" } ], "gene_names": [ { "name": "Lhcgr", "type": "recommended" }, { "name": "LH/CG-R", "type": "synonym" }, { "name": "LHCGR", "type": "synonym" }, { "name": "LSH-R", "type": "synonym" }, { "name": "LSHR", "type": "synonym" }, { "name": "Lhcgr", "type": "synonym" }, { "name": "Lhr", "type": "synonym" } ], "record_id": "P16235-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q2PDR0-1", "uniprot_ac": "Q2PDR0", "uniprot_id": "Q2PDR0_DROME", "refseq_ac": "NP_001034051", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Dolichol-phosphate mannosyltransferase subunit 3", "type": "recommended" }, { "name": "CG33977-PA", "type": "synonym" }, { "name": "Dolichyl-phosphate mannosyltransferase subunit 3", "type": "synonym" }, { "name": "Dpm3-PA", "type": "synonym" } ], "gene_names": [ { "name": "Dpm3", "type": "recommended" }, { "name": "CG33977", "type": "synonym" }, { "name": "DPM3", "type": "synonym" }, { "name": "Dmel\\CG33977", "type": "synonym" }, { "name": "Dmel_CG33977", "type": "synonym" }, { "name": "Dpm3", "type": "synonym" } ], "record_id": "Q2PDR0-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q9Y123-1", "uniprot_ac": "Q9Y123", "uniprot_id": "RFT1_DROME", "refseq_ac": "NP_572246", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1", "type": "recommended" }, { "name": "CG3149-PA", "type": "synonym" }, { "name": "Protein RFT1 homolog", "type": "synonym" }, { "name": "uncharacterized protein", "type": "synonym" } ], "gene_names": [ { "name": "BcDNA:GH08388", "type": "synonym" }, { "name": "CG3149", "type": "synonym" }, { "name": "Dmel\\CG3149", "type": "synonym" } ], "record_id": "Q9Y123-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q9VLQ1-1", "uniprot_ac": "Q9VLQ1", "uniprot_id": "ALG5_DROME", "refseq_ac": "NP_609202", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Dolichyl-phosphate beta-glucosyltransferase", "type": "recommended" }, { "name": "2.4.1.117", "type": "synonym" }, { "name": "CG7870-PA", "type": "synonym" }, { "name": "Wollknaeuel", "type": "synonym" }, { "name": "wol-PA", "type": "synonym" }, { "name": "wollknaeuel", "type": "synonym" }, { "name": "wollknauel", "type": "synonym" } ], "gene_names": [ { "name": "wol", "type": "recommended" }, { "name": "ALG5", "type": "synonym" }, { "name": "Alg5", "type": "synonym" }, { "name": "CG7870", "type": "synonym" }, { "name": "Dmel\\CG7870", "type": "synonym" }, { "name": "Wol", "type": "synonym" }, { "name": "alg5", "type": "synonym" }, { "name": "dAlg5", "type": "synonym" }, { "name": "wol", "type": "synonym" } ], "record_id": "Q9VLQ1-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q9VBV8-1", "uniprot_ac": "Q9VBV8", "uniprot_id": "ALG9_DROME", "refseq_ac": "NP_651353", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Alpha-1,2-mannosyltransferase Alg9", "type": "recommended" }, { "name": "2.4.1.259", "type": "synonym" }, { "name": "2.4.1.261", "type": "synonym" }, { "name": "ALG9, alpha-1,2-mannosyltransferase", "type": "synonym" }, { "name": "Alg9-PA", "type": "synonym" }, { "name": "CG11851-PA", "type": "synonym" }, { "name": "Dolichyl-P-Man:Man6GlcNAc2-PP-dolichol alpha-1,2-mannosyltransferase", "type": "synonym" }, { "name": "Dolichyl-P-Man:Man8GlcNAc2-PP-dolichol alpha-1,2-mannosyltransferase", "type": "synonym" } ], "gene_names": [ { "name": "Alg9", "type": "recommended" }, { "name": "Alg9", "type": "synonym" }, { "name": "CG11851", "type": "synonym" }, { "name": "Dmel\\CG11851", "type": "synonym" }, { "name": "alg9", "type": "synonym" }, { "name": "dAlg9", "type": "synonym" } ], "record_id": "Q9VBV8-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "A1ZAI1-1", "uniprot_ac": "A1ZAI1", "uniprot_id": "A1ZAI1_DROME", "refseq_ac": "NP_611139", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "dolichol kinase", "type": "recommended" }, { "name": "2.7.1.108", "type": "synonym" }, { "name": "CG8311-PA", "type": "synonym" }, { "name": "Dolk-PA", "type": "synonym" }, { "name": "dolichol kinase", "type": "synonym" } ], "gene_names": [ { "name": "Dolk", "type": "recommended" }, { "name": "CG8311", "type": "synonym" }, { "name": "Dmel\\CG8311", "type": "synonym" }, { "name": "Dmel_CG8311", "type": "synonym" }, { "name": "Dolk", "type": "synonym" } ], "record_id": "A1ZAI1-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q9VH78-1", "uniprot_ac": "Q9VH78", "uniprot_id": "ALG12_DROME", "refseq_ac": "NP_649939", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase", "type": "recommended" }, { "name": "2.4.1.260", "type": "synonym" }, { "name": "Alg12 alpha-1,6-mannosyltransferase", "type": "synonym" }, { "name": "Alg12-PA", "type": "synonym" }, { "name": "Asparagine-linked glycosylation protein 12 homolog", "type": "synonym" }, { "name": "CG8412-PA", "type": "synonym" }, { "name": "Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase", "type": "synonym" }, { "name": "Mannosyltransferase ALG12 homolog", "type": "synonym" } ], "gene_names": [ { "name": "Alg12", "type": "recommended" }, { "name": "Alg12", "type": "synonym" }, { "name": "CG8412", "type": "synonym" }, { "name": "Dmel\\CG8412", "type": "synonym" }, { "name": "dAlg12", "type": "synonym" } ], "record_id": "Q9VH78-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q9W3V8-1", "uniprot_ac": "Q9W3V8", "uniprot_id": "ALG8_DROME", "refseq_ac": "NP_572355", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase", "type": "recommended" }, { "name": "2.4.1.265", "type": "synonym" }, { "name": "Asparagine-linked glycosylation protein 8 homolog", "type": "synonym" }, { "name": "CG4542-PA", "type": "synonym" }, { "name": "Dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase", "type": "synonym" }, { "name": "Dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase", "type": "synonym" }, { "name": "Protein xiantuan", "type": "synonym" }, { "name": "xiantuan", "type": "synonym" }, { "name": "xit-PA", "type": "synonym" } ], "gene_names": [ { "name": "xit", "type": "recommended" }, { "name": "Alg8", "type": "synonym" }, { "name": "CG4542", "type": "synonym" }, { "name": "Dalg8", "type": "synonym" }, { "name": "Dmel\\CG4542", "type": "synonym" }, { "name": "Xit", "type": "synonym" }, { "name": "dAlg8", "type": "synonym" }, { "name": "xit", "type": "synonym" } ], "record_id": "Q9W3V8-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q9VLP9-1", "uniprot_ac": "Q9VLP9", "uniprot_id": "SR5A3_DROME", "refseq_ac": "NP_609203", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Polyprenal reductase", "type": "recommended" }, { "name": "1.3.1.94", "type": "synonym" }, { "name": "CG7840-PA", "type": "synonym" }, { "name": "uncharacterized protein", "type": "synonym" } ], "gene_names": [ { "name": "CG7840", "type": "synonym" }, { "name": "Dmel\\CG7840", "type": "synonym" }, { "name": "cg7840", "type": "synonym" } ], "record_id": "Q9VLP9-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q9VEE9-1", "uniprot_ac": "Q9VEE9", "uniprot_id": "Q9VEE9_DROME", "refseq_ac": "NP_650662", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "2.4.-.-", "type": "synonym" }, { "name": "2.4.1.142", "type": "synonym" }, { "name": "ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase", "type": "synonym" }, { "name": "Alg1-PA", "type": "synonym" }, { "name": "B-1,4-mannosyltransferase", "type": "synonym" }, { "name": "CG18012-PA", "type": "synonym" } ], "gene_names": [ { "name": "Alg1", "type": "recommended" }, { "name": "Alg1", "type": "synonym" }, { "name": "CG18012", "type": "synonym" }, { "name": "Dmel\\CG18012", "type": "synonym" }, { "name": "Dmel_CG18012", "type": "synonym" }, { "name": "dAlg1", "type": "synonym" } ], "record_id": "Q9VEE9-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q9VKX7-1", "uniprot_ac": "Q9VKX7", "uniprot_id": "ALG6_DROME", "refseq_ac": "NP_001260338", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Probable dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase", "type": "recommended" }, { "name": "2.4.1.267", "type": "synonym" }, { "name": "Asparagine-linked glycosylation protein 6 homolog", "type": "synonym" }, { "name": "CG5091-PB", "type": "synonym" }, { "name": "Dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase", "type": "synonym" }, { "name": "Dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase", "type": "synonym" }, { "name": "garnysstan, isoform B", "type": "synonym" }, { "name": "gny-PB", "type": "synonym" } ], "gene_names": [ { "name": "gny", "type": "recommended" }, { "name": "Alg6", "type": "synonym" }, { "name": "CG5091", "type": "synonym" }, { "name": "Dalg6", "type": "synonym" }, { "name": "Dmel\\CG5091", "type": "synonym" }, { "name": "Dmel_CG5091", "type": "synonym" }, { "name": "Gny[", "type": "synonym" }, { "name": "alg6", "type": "synonym" }, { "name": "dAlg6", "type": "synonym" }, { "name": "gny", "type": "synonym" } ], "record_id": "Q9VKX7-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q9VTZ6-1", "uniprot_ac": "Q9VTZ6", "uniprot_id": "PMM_DROME", "refseq_ac": "NP_648589", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Phosphomannomutase", "type": "recommended" }, { "name": "5.4.2.8", "type": "synonym" }, { "name": "CG10688-PA", "type": "synonym" }, { "name": "Phosphomannomutase 2", "type": "synonym" }, { "name": "Phosphomannomutase type 2", "type": "synonym" }, { "name": "Pmm2-PA", "type": "synonym" }, { "name": "phosphomannomutase type 2", "type": "synonym" }, { "name": "phosphomannomutase-2", "type": "synonym" } ], "gene_names": [ { "name": "Pmm2", "type": "recommended" }, { "name": "33589256", "type": "synonym" }, { "name": "CG10688", "type": "synonym" }, { "name": "Dmel\\CG10688", "type": "synonym" }, { "name": "Pmm2", "type": "synonym" }, { "name": "pmm2", "type": "synonym" } ], "record_id": "Q9VTZ6-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q9VH77-1", "uniprot_ac": "Q9VH77", "uniprot_id": "Q9VH77_DROME", "refseq_ac": "NP_649940", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "mannose-6-phosphate isomerase", "type": "recommended" }, { "name": "5.3.1.8", "type": "synonym" }, { "name": "CG8417-PA", "type": "synonym" }, { "name": "Mpi-PA", "type": "synonym" }, { "name": "Phosphohexomutase", "type": "synonym" }, { "name": "Phosphomannose isomerase", "type": "synonym" }, { "name": "mannose phosphate isomerase", "type": "synonym" } ], "gene_names": [ { "name": "Mpi", "type": "recommended" }, { "name": "CG8417", "type": "synonym" }, { "name": "Dmel\\CG8417", "type": "synonym" }, { "name": "Dmel_CG8417", "type": "synonym" }, { "name": "MPI", "type": "synonym" }, { "name": "Mpi", "type": "synonym" }, { "name": "dMPI", "type": "synonym" } ], "record_id": "Q9VH77-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q9VIU7-1", "uniprot_ac": "Q9VIU7", "uniprot_id": "DPM1_DROME", "refseq_ac": "NP_609980", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Dolichol-phosphate mannosyltransferase subunit 1", "type": "recommended" }, { "name": "2.4.1.83", "type": "synonym" }, { "name": "CG10166-PA", "type": "synonym" }, { "name": "DPM synthase", "type": "synonym" }, { "name": "Dolichol-phosphate mannose synthase", "type": "synonym" }, { "name": "Dolichol-phosphate mannosyltransferase", "type": "synonym" }, { "name": "Dolichyl-phosphate beta-D-mannosyltransferase", "type": "synonym" }, { "name": "Dolichyl-phosphate mannosyltransferase subunit 1", "type": "synonym" }, { "name": "Dpm1-PA", "type": "synonym" }, { "name": "MPD synthase", "type": "synonym" }, { "name": "Mannose-P-dolichol synthase", "type": "synonym" } ], "gene_names": [ { "name": "Dpm1", "type": "recommended" }, { "name": "CG10166", "type": "synonym" }, { "name": "DPM1", "type": "synonym" }, { "name": "Dmel\\CG10166", "type": "synonym" }, { "name": "Dol-P-ManTase", "type": "synonym" }, { "name": "Dpm1", "type": "synonym" }, { "name": "dDPM", "type": "synonym" } ], "record_id": "Q9VIU7-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "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": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q96AA3-1", "uniprot_ac": "Q96AA3", "uniprot_id": "RFT1_HUMAN", "refseq_ac": "NP_443091", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1", "type": "recommended" }, { "name": "Protein RFT1 homolog", "type": "synonym" }, { "name": "RFT1, requiring fifty three 1 homolog", "type": "synonym" }, { "name": "congenital disorder of glycosylation 1N", "type": "synonym" }, { "name": "man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1", "type": "synonym" }, { "name": "protein RFT1 homolog", "type": "synonym" }, { "name": "putative endoplasmic reticulum multispan transmembrane protein", "type": "synonym" } ], "gene_names": [ { "name": "RFT1", "type": "recommended" }, { "name": "CDG1N", "type": "synonym" }, { "name": "RFT1", "type": "synonym" }, { "name": "SLC76A1", "type": "synonym" } ], "record_id": "Q96AA3-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q9BV10-1", "uniprot_ac": "Q9BV10", "uniprot_id": "ALG12_HUMAN", "refseq_ac": "NP_077010", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase", "type": "recommended" }, { "name": "2.4.1.260", "type": "synonym" }, { "name": "Asparagine-linked glycosylation protein 12 homolog", "type": "synonym" }, { "name": "Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase", "type": "synonym" }, { "name": "Mannosyltransferase ALG12 homolog", "type": "synonym" }, { "name": "Membrane protein SB87", "type": "synonym" }, { "name": "asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase)", "type": "synonym" }, { "name": "asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)", "type": "synonym" }, { "name": "asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog", "type": "synonym" }, { "name": "asparagine-linked glycosylation protein 12 homolog", "type": "synonym" }, { "name": "dol-P-Man dependent alpha-1,6-mannosyltransferase", "type": "synonym" }, { "name": "dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase", "type": "synonym" }, { "name": "dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase", "type": "synonym" }, { "name": "dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1, 6-mannosyltransferase", "type": "synonym" }, { "name": "dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6- mannosyltransferase", "type": "synonym" }, { "name": "hALG12", "type": "synonym" }, { "name": "mannosyltransferase ALG12 homolog", "type": "synonym" }, { "name": "membrane protein SB87", "type": "synonym" } ], "gene_names": [ { "name": "ALG12", "type": "recommended" }, { "name": "ALG12", "type": "synonym" }, { "name": "CDG1G", "type": "synonym" }, { "name": "ECM39", "type": "synonym" }, { "name": "PP14673", "type": "synonym" }, { "name": "hALG12", "type": "synonym" } ], "record_id": "Q9BV10-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q9Y672-1", "uniprot_ac": "Q9Y672", "uniprot_id": "ALG6_HUMAN", "refseq_ac": "NP_037471", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase", "type": "recommended" }, { "name": "2.4.1.267", "type": "synonym" }, { "name": "Asparagine-linked glycosylation protein 6 homolog", "type": "synonym" }, { "name": "Dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase", "type": "synonym" }, { "name": "Dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase", "type": "synonym" }, { "name": "Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase", "type": "synonym" }, { "name": "asparagine-linked glycosylation 6 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)", "type": "synonym" }, { "name": "asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)", "type": "synonym" }, { "name": "asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog", "type": "synonym" }, { "name": "asparagine-linked glycosylation protein 6 homolog", "type": "synonym" }, { "name": "dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase", "type": "synonym" }, { "name": "dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase", "type": "synonym" }, { "name": "dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase", "type": "synonym" }, { "name": "dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase", "type": "synonym" }, { "name": "dolichyl-P-Glc:Man9GlcNAc2-PP-dolichylglucosyltransferase", "type": "synonym" } ], "gene_names": [ { "name": "ALG6", "type": "recommended" }, { "name": "ALG6", "type": "synonym" }, { "name": "CDG1C", "type": "synonym" }, { "name": "My046", "type": "synonym" } ], "record_id": "Q9Y672-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q9BVK2-1", "uniprot_ac": "Q9BVK2", "uniprot_id": "ALG8_HUMAN", "refseq_ac": "NP_001007028", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase", "type": "recommended" }, { "name": "2.4.1.265", "type": "synonym" }, { "name": "Asparagine-linked glycosylation protein 8 homolog", "type": "synonym" }, { "name": "Dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase", "type": "synonym" }, { "name": "Dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase", "type": "synonym" }, { "name": "HUSSY-02", "type": "synonym" }, { "name": "asparagine-linked glycosylation 8 alpha-13-glucosyltransferase-like protein", "type": "synonym" }, { "name": "asparagine-linked glycosylation 8 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)", "type": "synonym" }, { "name": "asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)", "type": "synonym" }, { "name": "asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog", "type": "synonym" }, { "name": "asparagine-linked glycosylation protein 8 homolog", "type": "synonym" }, { "name": "dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase", "type": "synonym" }, { "name": "dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform b", "type": "synonym" }, { "name": "dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase", "type": "synonym" }, { "name": "dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase", "type": "synonym" }, { "name": "dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase", "type": "synonym" }, { "name": "dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl-alpha-1, 3-glucosyltransferase", "type": "synonym" }, { "name": "probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase", "type": "synonym" } ], "gene_names": [ { "name": "ALG8", "type": "recommended" }, { "name": "ALG8", "type": "synonym" }, { "name": "CDG1H", "type": "synonym" }, { "name": "HUSSY-02", "type": "synonym" }, { "name": "PCLD3", "type": "synonym" } ], "record_id": "Q9BVK2-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q9H6U8-1", "uniprot_ac": "Q9H6U8", "uniprot_id": "ALG9_HUMAN", "refseq_ac": "NP_001071158", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Alpha-1,2-mannosyltransferase ALG9", "type": "recommended" }, { "name": "2.4.1.259", "type": "synonym" }, { "name": "2.4.1.261", "type": "synonym" }, { "name": "Asparagine-linked glycosylation protein 9 homolog", "type": "synonym" }, { "name": "Disrupted in bipolar disorder protein 1", "type": "synonym" }, { "name": "Dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase", "type": "synonym" }, { "name": "Dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase", "type": "synonym" }, { "name": "alpha-1,2-mannosyltransferase ALG9 isoform b", "type": "synonym" }, { "name": "alpha-1,2-mannosyltransferase ALG9", "type": "synonym" }, { "name": "asparagine-linked glycosylation 9 alpha-12-mannosyltransferase-like protein", "type": "synonym" }, { "name": "asparagine-linked glycosylation 9 homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)", "type": "synonym" }, { "name": "asparagine-linked glycosylation 9 homolog (yeast, alpha- 1,2-mannosyltransferase)", "type": "synonym" }, { "name": "asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog", "type": "synonym" }, { "name": "asparagine-linked glycosylation protein 9 homolog", "type": "synonym" }, { "name": "disrupted in bipolar affective disorder 1", "type": "synonym" }, { "name": "disrupted in bipolar disorder protein 1", "type": "synonym" }, { "name": "dol-P-Man dependent alpha-1,2-mannosyltransferase", "type": "synonym" }, { "name": "dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase", "type": "synonym" }, { "name": "dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase", "type": "synonym" }, { "name": "dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "type": "synonym" }, { "name": "dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "type": "synonym" }, { "name": "loss of heterozygosity, 11, chromosomal region 1 gene J product", "type": "synonym" } ], "gene_names": [ { "name": "ALG9", "type": "recommended" }, { "name": "ALG9", "type": "synonym" }, { "name": "CDG1L", "type": "synonym" }, { "name": "DIBD1", "type": "synonym" }, { "name": "GIKANIS", "type": "synonym" }, { "name": "LOH11CR1J", "type": "synonym" } ], "record_id": "Q9H6U8-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q9UPQ8-1", "uniprot_ac": "Q9UPQ8", "uniprot_id": "DOLK_HUMAN", "refseq_ac": "NP_055723", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Dolichol kinase", "type": "recommended" }, { "name": "2.7.1.108", "type": "synonym" }, { "name": "SEC59 homolog", "type": "synonym" }, { "name": "Transmembrane protein 15", "type": "synonym" }, { "name": "dolichol kinase 1", "type": "synonym" }, { "name": "dolichol kinase", "type": "synonym" }, { "name": "transmembrane protein 15", "type": "synonym" } ], "gene_names": [ { "name": "DOLK", "type": "recommended" }, { "name": "CDG1M", "type": "synonym" }, { "name": "DK1", "type": "synonym" }, { "name": "DK", "type": "synonym" }, { "name": "DOLK", "type": "synonym" }, { "name": "KIAA1094", "type": "synonym" }, { "name": "PRO4980", "type": "synonym" }, { "name": "SEC59", "type": "synonym" }, { "name": "TMEM15", "type": "synonym" } ], "record_id": "Q9UPQ8-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q9H8P0-1", "uniprot_ac": "Q9H8P0", "uniprot_id": "SR5A3_HUMAN", "refseq_ac": "NP_078868", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Polyprenal reductase", "type": "recommended" }, { "name": "1.3.1.22", "type": "synonym" }, { "name": "1.3.1.94", "type": "synonym" }, { "name": "3-oxo-5-alpha-steroid 4-dehydrogenase (NADP(+))", "type": "synonym" }, { "name": "3-oxo-5-alpha-steroid 4-dehydrogenase 3", "type": "synonym" }, { "name": "S5AR 3", "type": "synonym" }, { "name": "SR type 3", "type": "synonym" }, { "name": "Steroid 5-alpha-reductase 2-like", "type": "synonym" }, { "name": "Steroid 5-alpha-reductase 3", "type": "synonym" }, { "name": "polyprenal reductase isoform 1", "type": "synonym" }, { "name": "polyprenal reductase", "type": "synonym" }, { "name": "probable polyprenol reductase", "type": "synonym" } ], "gene_names": [ { "name": "SRD5A3", "type": "recommended" }, { "name": "CDG1P", "type": "synonym" }, { "name": "CDG1Q", "type": "synonym" }, { "name": "KRIZI", "type": "synonym" }, { "name": "S5AR 3", "type": "synonym" }, { "name": "S5AR", "type": "synonym" }, { "name": "SRD5A2L1", "type": "synonym" }, { "name": "SRD5A2L", "type": "synonym" }, { "name": "SRD5A3", "type": "synonym" } ], "record_id": "Q9H8P0-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q9BT22-1", "uniprot_ac": "Q9BT22", "uniprot_id": "ALG1_HUMAN", "refseq_ac": "NP_001317433", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Chitobiosyldiphosphodolichol beta-mannosyltransferase", "type": "recommended" }, { "name": "2.4.1.142", "type": "synonym" }, { "name": "Asparagine-linked glycosylation protein 1 homolog", "type": "synonym" }, { "name": "Beta-1,4-mannosyltransferase", "type": "synonym" }, { "name": "GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase", "type": "synonym" }, { "name": "GDP-mannose-dolichol diphosphochitobiose mannosyltransferase", "type": "synonym" }, { "name": "MT-1", "type": "synonym" }, { "name": "Mannosyltransferase-1", "type": "synonym" }, { "name": "asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)", "type": "synonym" }, { "name": "asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog", "type": "synonym" }, { "name": "asparagine-linked glycosylation protein 1 homolog", "type": "synonym" }, { "name": "chitobiosyldiphosphodolichol beta-mannosyltransferase isoform 2", "type": "synonym" }, { "name": "chitobiosyldiphosphodolichol beta-mannosyltransferase", "type": "synonym" }, { "name": "hMat-1", "type": "synonym" }, { "name": "mannosyltransferase-1", "type": "synonym" }, { "name": "mutant ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase", "type": "synonym" } ], "gene_names": [ { "name": "ALG1", "type": "recommended" }, { "name": "ALG1", "type": "synonym" }, { "name": "CDG1K", "type": "synonym" }, { "name": "HMAT1", "type": "synonym" }, { "name": "HMT-1", "type": "synonym" }, { "name": "HMT1", "type": "synonym" }, { "name": "MT-1", "type": "synonym" }, { "name": "Mat-1", "type": "synonym" }, { "name": "PRO1870", "type": "synonym" }, { "name": "PSEC0061", "type": "synonym" }, { "name": "hMat-1", "type": "synonym" } ], "record_id": "Q9BT22-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q9Y673-1", "uniprot_ac": "Q9Y673", "uniprot_id": "ALG5_HUMAN", "refseq_ac": "NP_001135836", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Dolichyl-phosphate beta-glucosyltransferase", "type": "recommended" }, { "name": "2.4.1.117", "type": "synonym" }, { "name": "Alg5, S. cerevisiae, homolog of", "type": "synonym" }, { "name": "Asparagine-linked glycosylation protein 5 homolog", "type": "synonym" }, { "name": "DolP-glucosyltransferase", "type": "synonym" }, { "name": "asparagine-linked glycosylation 5 homolog (S. cerevisiae, dolichyl-phosphate beta-glucosyltransferase)", "type": "synonym" }, { "name": "asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)", "type": "synonym" }, { "name": "asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog", "type": "synonym" }, { "name": "asparagine-linked glycosylation protein 5 homolog", "type": "synonym" }, { "name": "dolP-glucosyltransferase", "type": "synonym" }, { "name": "dolichyl phosphate glucosyltransferase", "type": "synonym" }, { "name": "dolichyl-phosphate beta-glucosyltransferase isoform 2", "type": "synonym" } ], "gene_names": [ { "name": "ALG5", "type": "recommended" }, { "name": "ALG5", "type": "synonym" }, { "name": "HSPC149", "type": "synonym" }, { "name": "PKD7", "type": "synonym" }, { "name": "bA421P11.2", "type": "synonym" } ], "record_id": "Q9Y673-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "C9J202-1", "uniprot_ac": "C9J202", "uniprot_id": "AG1L2_HUMAN", "refseq_ac": "NP_001129624", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Putative glycosyltransferase ALG1L2", "type": "recommended" }, { "name": "2.4.1.-", "type": "synonym" }, { "name": "asparagine-linked glycosylation 1-like 2", "type": "synonym" }, { "name": "putative glycosyltransferase ALG1L2", "type": "synonym" } ], "gene_names": [ { "name": "ALG1L2", "type": "recommended" }, { "name": "ALG1L2", "type": "synonym" } ], "record_id": "C9J202-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "O60762-1", "uniprot_ac": "O60762", "uniprot_id": "DPM1_HUMAN", "refseq_ac": "NP_001303963", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Dolichol-phosphate mannosyltransferase subunit 1", "type": "recommended" }, { "name": "2.4.1.83", "type": "synonym" }, { "name": "DPM synthase complex, catalytic subunit", "type": "synonym" }, { "name": "DPM synthase subunit 1", "type": "synonym" }, { "name": "Dolichol-phosphate mannose synthase subunit 1", "type": "synonym" }, { "name": "Dolichyl-phosphate beta-D-mannosyltransferase subunit 1", "type": "synonym" }, { "name": "MPD synthase subunit 1", "type": "synonym" }, { "name": "Mannose-P-dolichol synthase subunit 1", "type": "synonym" }, { "name": "dolichol monophosphate mannose synthase", "type": "synonym" }, { "name": "dolichol-phosphate mannose synthase subunit 1", "type": "synonym" }, { "name": "dolichol-phosphate mannosyltransferase subunit 1 isoform 1", "type": "synonym" }, { "name": "dolichyl-phosphate beta-D-mannosyltransferase subunit 1", "type": "synonym" }, { "name": "dolichyl-phosphate mannosyltransferase polypeptide 1 catalytic subunit", "type": "synonym" }, { "name": "mannose-P-dolichol synthase subunit 1", "type": "synonym" } ], "gene_names": [ { "name": "DPM1", "type": "recommended" }, { "name": "CDGIE", "type": "synonym" }, { "name": "DPM1", "type": "synonym" }, { "name": "MPDS", "type": "synonym" } ], "record_id": "O60762-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "P34949-1", "uniprot_ac": "P34949", "uniprot_id": "MPI_HUMAN", "refseq_ac": "NP_001276085", 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"url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "uniprot_canonical_ac": "Q9P2X0-1", "uniprot_ac": "Q9P2X0", "uniprot_id": "DPM3_HUMAN", "refseq_ac": "NP_061846", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Dolichol-phosphate mannosyltransferase subunit 3", "type": "recommended" }, { "name": "DPM synthase complex subunit 3", "type": "synonym" }, { "name": "DPM synthase subunit 3", "type": "synonym" }, { "name": "Dolichol-phosphate mannose synthase subunit 3", "type": "synonym" }, { "name": "Dolichyl-phosphate beta-D-mannosyltransferase subunit 3", "type": "synonym" }, { "name": "MPD synthase subunit 3", "type": "synonym" }, { "name": "Mannose-P-dolichol synthase subunit 3", "type": "synonym" }, { "name": "Prostin-1", "type": "synonym" }, { "name": "dolichol-phosphate mannose synthase subunit 3", "type": "synonym" }, { "name": "dolichol-phosphate mannosyltransferase subunit 3 isoform 1", "type": "synonym" }, { "name": "dolichol-phosphate mannosyltransferase subunit 3", "type": "synonym" }, { "name": "dolichyl-phosphate beta-D-mannosyltransferase subunit 3", "type": "synonym" }, { "name": "dolichyl-phosphate mannosyltransferase polypeptide 3", "type": "synonym" }, { "name": "mannose-P-dolichol synthase subunit 3", "type": "synonym" }, { "name": "prostin 1", "type": "synonym" }, { "name": "testicular tissue protein Li 58", "type": "synonym" } ], "gene_names": [ { "name": "DPM3", "type": "recommended" }, { "name": "CDG1O", "type": "synonym" }, { "name": "DPM3", "type": "synonym" }, { "name": "MDDGB15", "type": "synonym" }, { "name": "MDDGC15", "type": "synonym" } ], "record_id": "Q9P2X0-1", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0050570" }