{ "disease_id": "DOID:0050731", "recommended_name": { "id": "DOID:0050731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050731", "name": "vitamin B12 deficiency", "description": "A vitamin metabolic disorder that results from low blood levels of vitamin B12." }, "synonyms": [ { "id": "DOID:0050731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050731", "name": "cobalamin deficiency", "description": "" }, { "id": "DOID:0050731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050731", "name": "hypocobalaminemia", "description": "" } ], "children": [ { "id": "DOID:0050734", "label": "congenital intrinsic factor deficiency", "link_status": true, "children": [] }, { "id": "DOID:0050818", "label": "transcobalamin II deficiency", "link_status": true, "children": [] } ], "id_list": [ "DOID:0050818", "DOID:0050734", "DOID:0050731" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0050731", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050731", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "F1Q4Y1-1", "uniprot_ac": "F1Q4Y1", "uniprot_id": "F1Q4Y1_DANRE", "refseq_ac": "NP_001070185", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Lysosomal cobalamin transporter ABCD4", "type": "synonym" }, { "name": "lysosomal cobalamin transporter ABCD4", "type": "synonym" } ], "gene_names": [ { "name": "abcd4", "type": "recommended" }, { "name": "abcd4", "type": "synonym" }, { "name": "zgc:153503", "type": "synonym" } ], "record_id": "F1Q4Y1-1", "evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ] }, { "uniprot_canonical_ac": "F2Z4S3-1", "uniprot_ac": "F2Z4S3", "uniprot_id": "F2Z4S3_DANRE", "refseq_ac": "NP_001116703", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Transcobalamin-2 isoform X1", "type": "synonym" }, { "name": "Transcobalamin-2 precursor", "type": "synonym" }, { "name": "transcobalamin II, like", "type": "synonym" }, { "name": "transcobalamin-2 precursor", "type": "synonym" } ], "gene_names": [ { "name": "tcn2", "type": "recommended" }, { "name": "si:ch211-102c2.6", "type": "synonym" }, { "name": "tcn2l", "type": "synonym" }, { "name": "tcn2", "type": "synonym" }, { "name": "wu:fd46e10", "type": "synonym" } ], "record_id": "F2Z4S3-1", "evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ] }, { "uniprot_canonical_ac": "A0A8M1N4Z7-1", "uniprot_ac": "A0A8M1N4Z7", "uniprot_id": "A0A8M1N4Z7_DANRE", "refseq_ac": "NP_001014367", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Cystathionine beta-synthase", "type": "recommended" }, { "name": "4.2.1.22", "type": "synonym" }, { "name": "cystathionine beta-synthase b", "type": "synonym" } ], "gene_names": [ { "name": "cbsb", "type": "recommended" }, { "name": "cb442", "type": "synonym" }, { "name": "cbsb", "type": "synonym" }, { "name": "cbs", "type": "synonym" }, { "name": "wu:fb37g05", "type": "synonym" }, { "name": "wu:fm61c07", "type": "synonym" }, { "name": "wu:fq06c06", "type": "synonym" }, { "name": "zgc:113704", "type": "synonym" } ], "record_id": "A0A8M1N4Z7-1", "evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ] }, { "uniprot_canonical_ac": "A0A8M1NIR5-1", "uniprot_ac": "A0A8M1NIR5", "uniprot_id": "A0A8M1NIR5_DANRE", "refseq_ac": "NP_001131027", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Glutathione peroxidase", "type": "recommended" }, { "name": "glutathione peroxidase 3 (plasma)", "type": "synonym" }, { "name": "glutathione peroxidase 3 precursor", "type": "synonym" } ], "gene_names": [ { "name": "gpx3", "type": "recommended" }, { "name": "gpx3", "type": "synonym" } ], "record_id": "A0A8M1NIR5-1", "evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ] }, { "uniprot_canonical_ac": "P97353-1", "uniprot_ac": "P97353", "uniprot_id": "SEC1_MOUSE", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Galactoside 2-alpha-L-fucosyltransferase Sec1", "type": "recommended" }, { "name": "2.4.1.-", "type": "synonym" }, { "name": "Alpha(1,2)FT 3", "type": "synonym" }, { "name": "GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 3", "type": "synonym" }, { "name": "Secretory blood group protein 1", "type": "synonym" } ], "gene_names": [ { "name": "Sec1", "type": "recommended" }, { "name": "Fut3", "type": "synonym" } ], "record_id": "P97353-1", "evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ] }, { "uniprot_canonical_ac": "Q9JL27-1", "uniprot_ac": "Q9JL27", "uniprot_id": "FUT2_MOUSE", "refseq_ac": "NP_001258922", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Galactoside alpha-(1,2)-fucosyltransferase 2", "type": "recommended" }, { "name": "2.4.1.344", "type": "synonym" }, { "name": "2.4.1.69", "type": "synonym" }, { "name": "Alpha(1,2)FT 2", "type": "synonym" }, { "name": "Fucosyltransferase 2", "type": "synonym" }, { "name": "GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2", "type": "synonym" }, { "name": "GDP-fucose: beta-galactoside alpha1,2-fucosyltransferase", "type": "synonym" }, { "name": "MFUT-II", "type": "synonym" }, { "name": "Secretory blood group protein 2", "type": "synonym" }, { "name": "Type 1 galactoside alpha-(1,2)-fucosyltransferase FUT2", "type": "synonym" }, { "name": "Type 2 galactoside alpha-(1,2)-fucosyltransferase FUT2", "type": "synonym" }, { "name": "alpha(1,2)FT 2", "type": "synonym" }, { "name": "galactoside 2-alpha-L-fucosyltransferase 2", "type": "synonym" }, { "name": "galactoside alpha-(1,2)-fucosyltransferase 2", "type": "synonym" }, { "name": "secretory blood group protein 2", "type": "synonym" }, { "name": "type 1 galactoside alpha-(1,2)-fucosyltransferase FUT2", "type": "synonym" }, { "name": "type 2 galactoside alpha-(1,2)-fucosyltransferase FUT2", "type": "synonym" } ], "gene_names": [ { "name": "Fut2", "type": "recommended" }, { "name": "Fut2", "type": "synonym" }, { "name": "MFUT-II", "type": "synonym" }, { "name": "Sec2", "type": "synonym" } ], "record_id": "Q9JL27-1", "evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ] }, { "uniprot_canonical_ac": "P27548-1", "uniprot_ac": "P27548", "uniprot_id": "CD40L_MOUSE", "refseq_ac": "NP_035746", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "CD40 ligand", "type": "recommended" }, { "name": "CD40 ligand", "type": "synonym" }, { "name": "CD40-L", "type": "synonym" }, { "name": "T-cell antigen Gp39", "type": "synonym" }, { "name": "TNF-related activation protein", "type": "synonym" }, { "name": "TRAP", "type": "synonym" }, { "name": "Tumor necrosis factor ligand superfamily member 5", "type": "synonym" }, { "name": "tumor necrosis factor ligand 8b", "type": "synonym" }, { "name": "tumor necrosis factor ligand superfamily member 5", "type": "synonym" } ], "gene_names": [ { "name": "Cd40lg", "type": "recommended" }, { "name": "CD154", "type": "synonym" }, { "name": "CD40-L", "type": "synonym" }, { "name": "Cd40lg", "type": "synonym" }, { "name": "Cd40l", "type": "synonym" }, { "name": "HIGM1", "type": "synonym" }, { "name": "IGM", "type": "synonym" }, { "name": "IMD3", "type": "synonym" }, { "name": "Ly-62", "type": "synonym" }, { "name": "Ly62", "type": "synonym" }, { "name": "T-BAM", "type": "synonym" }, { "name": "TRAP", "type": "synonym" }, { "name": "Tnfsf5", "type": "synonym" }, { "name": "Tnlg8b", "type": "synonym" }, { "name": "gp39", "type": "synonym" } ], "record_id": "P27548-1", "evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ] }, { "uniprot_canonical_ac": "O89016-1", "uniprot_ac": "O89016", "uniprot_id": "ABCD4_MOUSE", "refseq_ac": "NP_033018", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Lysosomal cobalamin transporter ABCD4", "type": "recommended" }, { "name": "7.6.2.8", "type": "synonym" }, { "name": "ATP-binding cassette sub-family D member 4", "type": "synonym" }, { "name": "ATP-binding cassette, sub-family D (ALD), member 4", "type": "synonym" }, { "name": "P70R", "type": "synonym" }, { "name": "PMP69", "type": "synonym" }, { "name": "PMP70-related protein", "type": "synonym" }, { "name": "PXMP1-L", "type": "synonym" }, { "name": "Peroxisomal membrane protein 1-like", "type": "synonym" }, { "name": "Peroxisomal membrane protein 69", "type": "synonym" }, { "name": "lysosomal cobalamin transporter ABCD4", "type": "synonym" }, { "name": "peroxisomal membrane protein 69", "type": "synonym" }, { "name": "peroxisomal membrane protein, 70 kDa-related", "type": "synonym" } ], "gene_names": [ { "name": "Abcd4", "type": "recommended" }, { "name": "Abcd4", "type": "synonym" }, { "name": "P69r", "type": "synonym" }, { "name": "P70R", "type": "synonym" }, { "name": "Pxmp1l", "type": "synonym" } ], "record_id": "O89016-1", "evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ] }, { "uniprot_canonical_ac": "O88968-1", "uniprot_ac": "O88968", "uniprot_id": "TCO2_MOUSE", "refseq_ac": "NP_001123930", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Transcobalamin-2", "type": "recommended" }, { "name": "TC II", "type": "synonym" }, { "name": "TC-2", "type": "synonym" }, { "name": "TCII", "type": "synonym" }, { "name": "Transcobalamin II", "type": "synonym" }, { "name": "transcobalamin II", "type": "synonym" }, { "name": "transcobalamin-2 precursor", "type": "synonym" } ], "gene_names": [ { "name": "Tcn2", "type": "recommended" }, { "name": "Tcn-2", "type": "synonym" }, { "name": "Tcn2", "type": "synonym" } ], "record_id": "O88968-1", "evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ] }, { "uniprot_canonical_ac": "P14211-1", "uniprot_ac": "P14211", "uniprot_id": "CALR_MOUSE", "refseq_ac": "NP_031617", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Calreticulin", "type": "recommended" }, { "name": "CRP55", "type": "synonym" }, { "name": "Calregulin", "type": "synonym" }, { "name": "ERp60", "type": "synonym" }, { "name": "Endoplasmic reticulum resident protein 60", "type": "synonym" }, { "name": "HACBP", "type": "synonym" }, { "name": "calreticulin precursor", "type": "synonym" }, { "name": "endoplasmic reticulum resident protein 60", "type": "synonym" } ], "gene_names": [ { "name": "Calr", "type": "recommended" }, { "name": "CRT", "type": "synonym" }, { "name": "Calregulin", "type": "synonym" }, { "name": "Calr", "type": "synonym" } ], "record_id": "P14211-1", "evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ] }, { "uniprot_canonical_ac": "Q91WT9-1", "uniprot_ac": "Q91WT9", "uniprot_id": "CBS_MOUSE", "refseq_ac": "NP_001258282", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Cystathionine beta-synthase", "type": "recommended" }, { "name": "4.2.1.22", "type": "synonym" }, { "name": "Beta-thionase", "type": "synonym" }, { "name": "Serine sulfhydrase", "type": "synonym" }, { "name": "beta-thionase", "type": "synonym" }, { "name": "cystathionine beta-synthase isoform 2", "type": "synonym" }, { "name": "serine sulfhydrase", "type": "synonym" } ], "gene_names": [ { "name": "Cbs", "type": "recommended" }, { "name": "Cbs", "type": "synonym" }, { "name": "HIP4", "type": "synonym" } ], "record_id": "Q91WT9-1", "evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ] }, { "uniprot_canonical_ac": "A6H5Y3-1", "uniprot_ac": "A6H5Y3", "uniprot_id": "METH_MOUSE", "refseq_ac": "NP_001074597", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Methionine synthase", "type": "recommended" }, { "name": "2.1.1.13", "type": "synonym" }, { "name": "5-methyltetrahydrofolate--homocysteine methyltransferase", "type": "synonym" }, { "name": "Cobalamin-dependent methionine synthase", "type": "synonym" }, { "name": "MS", "type": "synonym" }, { "name": "Vitamin-B12 dependent methionine synthase", "type": "synonym" }, { "name": "cobalamin-dependent methionine synthase", "type": "synonym" }, { "name": "methionine synthase", "type": "synonym" }, { "name": "vitamin-B12 dependent methionine synthase", "type": "synonym" } ], "gene_names": [ { "name": "Mtr", "type": "recommended" }, { "name": "D830038K18Rik", "type": "synonym" }, { "name": "MS", "type": "synonym" }, { "name": "Mtr", "type": "synonym" } ], "record_id": "A6H5Y3-1", "evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ] }, { "uniprot_canonical_ac": "P18760-1", "uniprot_ac": "P18760", "uniprot_id": "COF1_MOUSE", "refseq_ac": "NP_031713", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Cofilin-1", "type": "recommended" }, { "name": "Cofilin, non-muscle isoform", "type": "synonym" }, { "name": "cofilin-1", "type": "synonym" }, { "name": "n-cofilin", "type": "synonym" } ], "gene_names": [ { "name": "Cfl1", "type": "recommended" }, { "name": "Cfl1", "type": "synonym" }, { "name": "Cof", "type": "synonym" } ], "record_id": "P18760-1", "evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ] }, { "uniprot_canonical_ac": "P46412-1", "uniprot_ac": "P46412", "uniprot_id": "GPX3_MOUSE", "refseq_ac": "NP_001316789", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Glutathione peroxidase 3", "type": "recommended" }, { "name": "1.11.1.9", "type": "synonym" }, { "name": "GPx-3", "type": "synonym" }, { "name": "GPx-P", "type": "synonym" }, { "name": "GSHPx-3", "type": "synonym" }, { "name": "GSHPx-P", "type": "synonym" }, { "name": "Plasma glutathione peroxidase", "type": "synonym" }, { "name": "extracellular GPx", "type": "synonym" }, { "name": "glutathione peroxidase 3 isoform 2 precursor", "type": "synonym" }, { "name": "plasma GPx", "type": "synonym" }, { "name": "plasma glutathione peroxidase", "type": "synonym" } ], "gene_names": [ { "name": "Gpx3", "type": "recommended" }, { "name": "EGPx", "type": "synonym" }, { "name": "GPx", "type": "synonym" }, { "name": "GSHPx-3", "type": "synonym" }, { "name": "GSHPx-P", "type": "synonym" }, { "name": "Gpx3", "type": "synonym" } ], "record_id": "P46412-1", "evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ] }, { "uniprot_canonical_ac": "P52430-1", "uniprot_ac": "P52430", "uniprot_id": "PON1_MOUSE", "refseq_ac": "NP_035264", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Serum paraoxonase/arylesterase 1", "type": "recommended" }, { "name": "3.1.1.2", "type": "synonym" }, { "name": "3.1.1.81", "type": "synonym" }, { "name": "3.1.8.1", "type": "synonym" }, { "name": "A-esterase 1", "type": "synonym" }, { "name": "Aromatic esterase 1", "type": "synonym" }, { "name": "PON 1", "type": "synonym" }, { "name": "Serum aryldialkylphosphatase 1", "type": "synonym" }, { "name": "aromatic esterase 1", "type": "synonym" }, { "name": "serum aryldialkylphosphatase 1", "type": "synonym" }, { "name": "serum paraoxonase/arylesterase 1 isoform 1 precursor", "type": "synonym" }, { "name": "serum paraoxonase/arylesterase 1", "type": "synonym" } ], "gene_names": [ { "name": "Pon1", "type": "recommended" }, { "name": "Pon1", "type": "synonym" }, { "name": "Pon", "type": "synonym" } ], "record_id": "P52430-1", "evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ] }, { "uniprot_canonical_ac": "Q03048-1", "uniprot_ac": "Q03048", "uniprot_id": "COFI_YEAST", "refseq_ac": "NP_013050", "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": "Cofilin", "type": "recommended" }, { "name": "Actin-depolymerizing factor 1", "type": "synonym" }, { "name": "cofilin", "type": "synonym" } ], "gene_names": [ { "name": "COF1", "type": "recommended" }, { "name": "COF1", "type": "synonym" }, { "name": "L0596", "type": "synonym" } ], "record_id": "Q03048-1", "evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ] }, { "uniprot_canonical_ac": "Q12525-1", "uniprot_ac": "Q12525", "uniprot_id": "MHT1_YEAST", "refseq_ac": "NP_013038", "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": "Homocysteine S-methyltransferase 1", "type": "recommended" }, { "name": "2.1.1.10", "type": "synonym" }, { "name": "S-adenosylmethionine-homocysteine S-methyltransferase MHT1", "type": "synonym" }, { "name": "S-methylmethionine:homocysteine methyltransferase 1", "type": "synonym" }, { "name": "SMM:Hcy S-methyltransferase 1", "type": "synonym" } ], "gene_names": [ { "name": "MHT1", "type": "recommended" }, { "name": "L0552", "type": "synonym" }, { "name": "MHT1", "type": "synonym" } ], "record_id": "Q12525-1", "evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ] }, { "uniprot_canonical_ac": "P32582-1", "uniprot_ac": "P32582", "uniprot_id": "CBS_YEAST", "refseq_ac": "NP_011671", 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"https://www.alliancegenome.org/disease/DOID:0050731" } ] }, { "uniprot_canonical_ac": "P45592-1", "uniprot_ac": "P45592", "uniprot_id": "COF1_RAT", "refseq_ac": "NP_058843", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Cofilin-1", "type": "recommended" }, { "name": "Cofilin, non-muscle isoform", "type": "synonym" }, { "name": "cofilin 1, non-muscle", "type": "synonym" }, { "name": "cofilin-1", "type": "synonym" } ], "gene_names": [ { "name": "Cfl1", "type": "recommended" }, { "name": "Cfl1", "type": "synonym" } ], "record_id": "P45592-1", "evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ] }, { "uniprot_canonical_ac": "Q9Z2Q4-1", "uniprot_ac": "Q9Z2Q4", "uniprot_id": "METH_RAT", "refseq_ac": "NP_110491", "glycoprotein": "no", "species": [ { "name": "Rattus 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"https://www.alliancegenome.org/disease/DOID:0050731" } ] }, { "uniprot_canonical_ac": "P18418-1", "uniprot_ac": "P18418", "uniprot_id": "CALR_RAT", "refseq_ac": "NP_071794", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Calreticulin", "type": "recommended" }, { "name": "CABP3", "type": "synonym" }, { "name": "CALBP", "type": "synonym" }, { "name": "CRP55", "type": "synonym" }, { "name": "Calcium-binding protein 3", "type": "synonym" }, { "name": "Calregulin", "type": "synonym" }, { "name": "ERp60", "type": "synonym" }, { "name": "Endoplasmic reticulum resident protein 60", "type": "synonym" }, { "name": "HACBP", "type": "synonym" }, { "name": "calcium-binding protein 3", "type": "synonym" }, { "name": "calregulin", "type": "synonym" }, { "name": "calreticulin precursor", "type": "synonym" }, { "name": "endoplasmic reticulum resident protein 60", "type": "synonym" } ], "gene_names": [ { "name": "Calr", "type": "recommended" }, { "name": "Calr", "type": "synonym" } ], "record_id": "P18418-1", "evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ] }, { "uniprot_canonical_ac": "Q9Z2V2-1", "uniprot_ac": "Q9Z2V2", "uniprot_id": "CD40L_RAT", "refseq_ac": "NP_445805", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "CD40 ligand", "type": "recommended" }, { "name": "CD40 ligand CD154", "type": "synonym" }, { "name": "CD40 ligand", "type": "synonym" }, { "name": "CD40-L", "type": "synonym" }, { "name": "Tumor necrosis factor ligand superfamily member 5", "type": "synonym" }, { "name": "tumor necrosis factor ligand superfamily member 5", "type": "synonym" } ], "gene_names": [ { "name": "Cd40lg", "type": "recommended" }, { "name": "Cd40lg", "type": "synonym" }, { "name": "Cd40l", "type": "synonym" }, { "name": "Tnfsf5", "type": "synonym" } ], "record_id": "Q9Z2V2-1", "evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ] }, { "uniprot_canonical_ac": "Q10984-1", "uniprot_ac": "Q10984", "uniprot_id": "FUT2_RAT", "refseq_ac": "NP_113823", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Galactoside alpha-(1,2)-fucosyltransferase 2", "type": "recommended" }, { "name": "2.4.1.344", "type": "synonym" }, { "name": "2.4.1.69", "type": "synonym" }, { "name": "Alpha 1,2-fucosyltransferase B", "type": "synonym" }, { "name": "Alpha 1,2-fucosyltransferase", "type": "synonym" }, { "name": "Alpha 1-2 fucosyltransferase", "type": "synonym" }, { "name": "Alpha(1,2)FT 2", 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blood group alpha-2-fucosyltransferase", "type": "synonym" }, { "name": "type 1 galactoside alpha-(1,2)-fucosyltransferase FUT2", "type": "synonym" }, { "name": "type 2 galactoside alpha-(1,2)-fucosyltransferase FUT2", "type": "synonym" } ], "gene_names": [ { "name": "Fut2", "type": "recommended" }, { "name": "FTB", "type": "synonym" }, { "name": "Ftb", "type": "synonym" }, { "name": "Ftc", "type": "synonym" }, { "name": "Fut2", "type": "synonym" }, { "name": "Futb", "type": "synonym" }, { "name": "Sec1", "type": "synonym" } ], "record_id": "Q10984-1", "evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ] }, { "uniprot_canonical_ac": "P23764-1", "uniprot_ac": "P23764", "uniprot_id": "GPX3_RAT", "refseq_ac": "NP_071970", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { 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"evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ] }, { "uniprot_canonical_ac": "P29413-1", "uniprot_ac": "P29413", "uniprot_id": "CALR_DROME", "refseq_ac": "NP_001262430", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Calreticulin", "type": "recommended" }, { "name": "CG9429-PB", "type": "synonym" }, { "name": "Calr-PB", "type": "synonym" }, { "name": "anon-fast-evolving-3D7", "type": "synonym" }, { "name": "calreticulin, isoform B", "type": "synonym" }, { "name": "calreticulin", "type": "synonym" }, { "name": "pot pourri", "type": "synonym" }, { "name": "potpourri", "type": "synonym" } ], "gene_names": [ { "name": "Calr", "type": "recommended" }, { "name": "CALR", "type": "synonym" }, { "name": "CG9429", "type": "synonym" }, { "name": "Calr", "type": "synonym" }, { "name": "Clr", "type": "synonym" }, { "name": "CrT", "type": "synonym" }, { "name": "Crc", "type": "synonym" }, { "name": "Dmel\\CG9429", "type": "synonym" }, { "name": "anon-EST:Liang-2.11", "type": "synonym" }, { "name": "anon-EST:Liang-2.17", "type": "synonym" }, { "name": "anon-EST:fe3D7", "type": "synonym" }, { "name": "chr3R:5454619..5454778", "type": "synonym" }, { "name": "clone 2.11", "type": "synonym" }, { "name": "clone 2.17", "type": "synonym" }, { "name": "crc", "type": "synonym" }, { "name": "eth", "type": "synonym" }, { "name": "potp", "type": "synonym" } ], "record_id": "P29413-1", "evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ] }, { "uniprot_canonical_ac": "Q9VJ32-1", "uniprot_ac": "Q9VJ32", "uniprot_id": "Q9VJ32_DROME", "refseq_ac": "NP_001286071", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Hcy-binding domain-containing protein", "type": "recommended" }, { "name": "CG10621-PB", "type": "synonym" }, { "name": "selenocysteine methyltransferase", "type": "synonym" }, { "name": "uncharacterized protein, isoform B", "type": "synonym" } ], "gene_names": [ { "name": "Dmel\\CG10621", "type": "recommended" }, { "name": "BEST:LD26123", "type": "synonym" }, { "name": "CG10621", "type": "synonym" }, { "name": "Dmel\\CG10621", "type": "synonym" }, { "name": "Dmel_CG10621", "type": "synonym" }, { "name": "anon-WO0140519.13", "type": "synonym" } ], "record_id": "Q9VJ32-1", "evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ] }, { "uniprot_canonical_ac": "Q9VJ31-1", "uniprot_ac": "Q9VJ31", "uniprot_id": "BHMT_DROME", "refseq_ac": "NP_001286073", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Betaine-homocysteine S-methyltransferase", "type": "recommended" }, { "name": "2.1.1.5", "type": "synonym" }, { "name": "Betaine-homocysteine S-methyltransferase, isoform B", "type": "synonym" }, { "name": "Bhmt-PB", "type": "synonym" }, { "name": "CG10623-PB", "type": "synonym" }, { "name": "betaine-homocysteine methyl-transferase", "type": "synonym" }, { "name": "selenocysteine methyltransferase", "type": "synonym" } ], "gene_names": [ { "name": "Bhmt", "type": "recommended" }, { "name": "Bhmt", "type": "synonym" }, { "name": "CG10623", "type": "synonym" }, { "name": "Dmel\\CG10623", "type": "synonym" }, { "name": "Met-s", "type": "synonym" }, { "name": "dBHMT", "type": "synonym" } ], "record_id": "Q9VJ31-1", "evidence": [ { "id": "0050731", "database": "AGR", "url": 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9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Cytochrome c oxidase subunit 7A1, mitochondrial", "type": "recommended" }, { "name": "Cytochrome c oxidase subunit VIIa-H", "type": "synonym" }, { "name": "Cytochrome c oxidase subunit VIIa-M", "type": "synonym" }, { "name": "Cytochrome c oxidase subunit VIIa-heart", "type": "synonym" }, { "name": "Cytochrome c oxidase subunit VIIa-muscle", "type": "synonym" }, { "name": "cytochrome c oxidase subunit 7A1, mitochondrial precursor", "type": "synonym" }, { "name": "cytochrome c oxidase subunit 7A1, mitochondrial", "type": "synonym" }, { "name": "cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)", "type": "synonym" }, { "name": "cytochrome c oxidase subunit VIIa-H", "type": "synonym" }, { "name": "cytochrome c oxidase subunit VIIa-M", "type": "synonym" }, { "name": "cytochrome c oxidase subunit VIIa-heart", "type": "synonym" }, { "name": "cytochrome c oxidase subunit VIIa-muscle", "type": "synonym" } ], "gene_names": [ { "name": "COX7A1", "type": "recommended" }, { "name": "COX7A1", "type": "synonym" }, { "name": "COX7AH", "type": "synonym" }, { "name": "COX7AM", "type": "synonym" }, { "name": "COX7A", "type": "synonym" } ], "record_id": "P24310-1", "evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ] }, { "uniprot_canonical_ac": "P27169-1", "uniprot_ac": "P27169", "uniprot_id": "PON1_HUMAN", "refseq_ac": "NP_000437", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Serum paraoxonase/arylesterase 1", "type": "recommended" }, { "name": "3.1.1.2", "type": "synonym" }, { "name": "3.1.1.81", "type": "synonym" }, { "name": "3.1.8.1", "type": "synonym" }, { "name": "A-esterase 1", "type": "synonym" }, { "name": "Aromatic 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"name": "selenoprotein GPX3", "type": "synonym" } ], "gene_names": [ { "name": "GPX3", "type": "recommended" }, { "name": "GPX3", "type": "synonym" }, { "name": "GPXP", "type": "synonym" }, { "name": "GPx-P", "type": "synonym" }, { "name": "GSHPx-3", "type": "synonym" }, { "name": "GSHPx-P", "type": "synonym" } ], "record_id": "P22352-1", "evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ] }, { "uniprot_canonical_ac": "P29965-1", "uniprot_ac": "P29965", "uniprot_id": "CD40L_HUMAN", "refseq_ac": "NP_000065", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "CD40 ligand", "type": "recommended" }, { "name": "CD40 antigen ligand", "type": "synonym" }, { "name": "CD40 ligand", "type": "synonym" }, { "name": "CD40-L", "type": "synonym" }, { "name": "T-B cell-activating molecule", "type": "synonym" }, { "name": "T-cell antigen Gp39", "type": "synonym" }, { "name": "TNF-related activation protein", "type": "synonym" }, { "name": "TRAP", "type": "synonym" }, { "name": "Tumor necrosis factor ligand superfamily member 5", "type": "synonym" }, { "name": "tumor necrosis factor (ligand) superfamily member 5", "type": "synonym" } ], "gene_names": [ { "name": "CD40LG", "type": "recommended" }, { "name": "CD154", "type": "synonym" }, { "name": "CD40LG", "type": "synonym" }, { "name": "CD40L", "type": "synonym" }, { "name": "HIGM1", "type": "synonym" }, { "name": "IGM", "type": "synonym" }, { "name": "IMD3", "type": "synonym" }, { "name": "T-BAM", "type": "synonym" }, { "name": "TNFSF5", "type": "synonym" }, { "name": "TRAP", "type": "synonym" }, { "name": "gp39", "type": "synonym" }, { "name": "hCD40L", "type": "synonym" } ], "record_id": "P29965-1", "evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ] }, { "uniprot_canonical_ac": "P20062-1", "uniprot_ac": "P20062", "uniprot_id": "TCO2_HUMAN", "refseq_ac": "NP_000346", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Transcobalamin-2", "type": "recommended" }, { "name": "TC II", "type": "synonym" }, { "name": "TC-2", "type": "synonym" }, { "name": "TCII", "type": "synonym" }, { "name": "Transcobalamin II", "type": "synonym" }, { "name": "macrocytic anemia", "type": "synonym" }, { "name": "transcobalamin II", "type": "synonym" }, { "name": "transcobalamin-2 isoform 1 precursor", "type": "synonym" }, { "name": "vitamin B12-binding protein 2", "type": "synonym" } ], "gene_names": [ { "name": "TCN2", "type": "recommended" }, { "name": "D22S676", "type": "synonym" }, { "name": "D22S750", "type": "synonym" }, { "name": "II", "type": "synonym" }, { "name": "TC II", "type": "synonym" }, { "name": "TC-2", "type": "synonym" }, { "name": "TC2", "type": "synonym" }, { "name": "TCII", "type": "synonym" }, { "name": "TCN2", "type": "synonym" }, { "name": "TC", "type": "synonym" } ], "record_id": "P20062-1", "evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ] }, { "uniprot_canonical_ac": "O14678-1", "uniprot_ac": "O14678", "uniprot_id": "ABCD4_HUMAN", "refseq_ac": "NP_005041", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Lysosomal cobalamin transporter ABCD4", "type": "recommended" }, { "name": "69 kDa peroxisomal ABC-transporter", "type": "synonym" }, { "name": "7.6.2.8", "type": "synonym" }, { "name": "ATP-binding cassette sub-family D member 4", "type": "synonym" }, { "name": "ATP-binding cassette, sub-family D (ALD), member 4", "type": "synonym" }, { "name": "P70R", "type": "synonym" }, { "name": "PMP69", "type": "synonym" }, { "name": "PMP70-related protein", "type": "synonym" }, { "name": "PXMP1-L", "type": "synonym" }, { "name": "Peroxisomal membrane protein 1-like", "type": "synonym" }, { "name": "Peroxisomal membrane protein 69", "type": "synonym" }, { "name": "lysosomal cobalamin transporter ABCD4 isoform a", "type": "synonym" }, { "name": "lysosomal cobalamin transporter ABCD4", "type": "synonym" }, { "name": "peroxisomal membrane protein 69", "type": "synonym" } ], "gene_names": [ { "name": "ABCD4", "type": "recommended" }, { "name": "ABC41", "type": "synonym" }, { "name": "ABCD4", "type": "synonym" }, { "name": "EST352188", "type": "synonym" }, { "name": "MAHCJ", "type": "synonym" }, { "name": "P70R", "type": "synonym" }, { "name": "P79R", "type": "synonym" }, { "name": "PMP69", "type": "synonym" }, { "name": "PXMP1L", "type": "synonym" } ], "record_id": "O14678-1", "evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ] }, { "uniprot_canonical_ac": "P27797-1", "uniprot_ac": "P27797", "uniprot_id": "CALR_HUMAN", "refseq_ac": "NP_004334", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Calreticulin", "type": "recommended" }, { "name": "CRP55", "type": "synonym" }, { "name": "Calregulin", "type": "synonym" }, { "name": "ERp60", "type": "synonym" }, { "name": "Endoplasmic reticulum resident protein 60", "type": "synonym" }, { "name": "HACBP", "type": "synonym" }, { "name": "Sicca syndrome antigen A (autoantigen Ro", "type": "synonym" }, { "name": "calregulin", "type": "synonym" }, { "name": "calreticulin precursor", "type": "synonym" }, { "name": "calreticulin)", "type": "synonym" }, { "name": "endoplasmic reticulum resident protein 60", "type": "synonym" }, { "name": "epididymis secretory sperm binding protein Li 99n", "type": "synonym" }, { "name": "grp60", "type": "synonym" } ], "gene_names": [ { "name": "CALR", "type": "recommended" }, { "name": "CALR1", "type": "synonym" }, { "name": "CALR", "type": "synonym" }, { "name": "CRTC", "type": "synonym" }, { "name": "CRT", "type": "synonym" }, { "name": "HEL-S-99n", "type": "synonym" }, { "name": "RO", "type": "synonym" }, { "name": "SSA", "type": "synonym" }, { "name": "cC1qR", "type": "synonym" } ], "record_id": "P27797-1", "evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ] }, { "uniprot_canonical_ac": "P23528-1", "uniprot_ac": "P23528", "uniprot_id": "COF1_HUMAN", "refseq_ac": "NP_005498", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Cofilin-1", "type": "recommended" }, { "name": "18 kDa phosphoprotein", "type": "synonym" }, { "name": "Cofilin, non-muscle isoform", "type": "synonym" }, { "name": "cofilin 1 (non-muscle)", "type": "synonym" }, { "name": "cofilin-1", "type": "synonym" }, { "name": "epididymis secretory protein Li 15", "type": "synonym" }, { "name": "p18", "type": "synonym" } ], "gene_names": [ { "name": "CFL1", "type": "recommended" }, { "name": "CFL1", "type": "synonym" }, { "name": "CFL", "type": "synonym" }, { "name": "HEL-S-15", "type": "synonym" }, { "name": "cofilin", "type": "synonym" } ], "record_id": "P23528-1", "evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ] }, { "uniprot_canonical_ac": "Q99707-1", "uniprot_ac": "Q99707", "uniprot_id": "METH_HUMAN", "refseq_ac": "NP_000245", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Methionine synthase", "type": "recommended" }, { "name": "2.1.1.13", "type": "synonym" }, { "name": "5-methyltetrahydrofolate--homocysteine methyltransferase", "type": "synonym" }, { "name": "5-methyltetrahydrofolate-homocysteine methyltransferase 1", "type": "synonym" }, { "name": "Cobalamin-dependent methionine synthase", "type": "synonym" }, { "name": "MS", "type": "synonym" }, { "name": "Vitamin-B12 dependent methionine synthase", "type": "synonym" }, { "name": "cobalamin-dependent methionine synthase", "type": "synonym" }, { "name": "methionine synthase isoform 1", "type": "synonym" }, { "name": "vitamin-B12 dependent methionine synthase", "type": "synonym" } ], "gene_names": [ { "name": "MTR", "type": "recommended" }, { "name": "HMAG", "type": "synonym" }, { "name": "MS", "type": "synonym" }, { "name": "MTR", "type": "synonym" }, { "name": "cblG", "type": "synonym" } ], "record_id": "Q99707-1", "evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ] }, { "uniprot_canonical_ac": "P35520-1", "uniprot_ac": "P35520", "uniprot_id": "CBS_HUMAN", "refseq_ac": "NP_000062", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Cystathionine beta-synthase", "type": "recommended" }, { "name": "4.2.1.22", "type": "synonym" }, { "name": "Beta-thionase", "type": "synonym" }, { "name": "Serine sulfhydrase", "type": "synonym" }, { "name": "beta-thionase", "type": "synonym" }, { "name": "cystathionine beta-synthase isoform 1", "type": "synonym" }, { "name": "methylcysteine synthase", "type": "synonym" }, { "name": "serine sulfhydrase", "type": "synonym" } ], "gene_names": [ { "name": "CBS", "type": "recommended" }, { "name": "CBS", "type": "synonym" }, { "name": "HIP4", "type": "synonym" } ], "record_id": "P35520-1", "evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ] }, { "uniprot_canonical_ac": "Q10981-1", "uniprot_ac": "Q10981", "uniprot_id": "FUT2_HUMAN", "refseq_ac": "NP_000502", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Galactoside alpha-(1,2)-fucosyltransferase 2", "type": "recommended" }, { "name": "2.4.1.344", "type": "synonym" }, { "name": "2.4.1.69", "type": "synonym" }, { "name": "Alpha(1,2)FT 2", "type": "synonym" }, { "name": "FUT2 fucosyltransferase 2", "type": "synonym" }, { "name": "Fucosyltransferase 2", "type": "synonym" }, { "name": "GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2", "type": "synonym" }, { "name": "SE2", "type": "synonym" }, { "name": "Secretor blood group alpha-2-fucosyltransferase", "type": "synonym" }, { "name": "Secretor factor", "type": "synonym" }, { "name": "Se", "type": "synonym" }, { "name": "Type 1 galactoside alpha-(1,2)-fucosyltransferase FUT2", "type": "synonym" }, { "name": "Type 2 galactoside alpha-(1,2)-fucosyltransferase FUT2", "type": "synonym" }, { "name": "alpha (1,2) fucosyltransferase", "type": "synonym" }, { "name": "alpha(1,2)FT 2", "type": "synonym" }, { "name": "alpha(1,2)FT2", "type": "synonym" }, { "name": "fucosyltransferase 2 (secretor status included)", "type": "synonym" }, { "name": "galactoside 2-L-fucosyltransferase", "type": "synonym" }, { "name": "galactoside 2-alpha-L-fucosyltransferase 2", "type": "synonym" }, { "name": "galactoside alpha-(1,2)-fucosyltransferase 2", "type": "synonym" }, { "name": "secretor blood group alpha-2-fucosyltransferase", "type": "synonym" }, { "name": "secretor factor", "type": "synonym" }, { "name": "type 1 galactoside alpha-(1,2)-fucosyltransferase FUT2", "type": "synonym" }, { "name": "type 2 galactoside alpha-(1,2)-fucosyltransferase FUT2", "type": "synonym" } ], "gene_names": [ { "name": "FUT2", "type": "recommended" }, { "name": "B12QTL1", "type": "synonym" }, { "name": "FUT2", "type": "synonym" }, { "name": "SEC2", "type": "synonym" }, { "name": "SE", "type": "synonym" }, { "name": "Se2", "type": "synonym" }, { "name": "sej", "type": "synonym" } ], "record_id": "Q10981-1", "evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0050731" }