{ "disease_id": "DOID:0080199", "recommended_name": { "id": "DOID:0080199", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080199", "name": "colorectal carcinoma", "description": "A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa." }, "synonyms": [], "children": [ { "id": "DOID:0050861", "label": "colorectal adenocarcinoma", "link_status": true, "children": [] } ], "id_list": [ "DOID:0080199", "DOID:0050861" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0080199", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080199", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "E7EZ94-1", "uniprot_ac": "E7EZ94", "uniprot_id": "E7EZ94_DANRE", "refseq_ac": "NP_001314691", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } 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"taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "DNA repair protein XRCC1", "type": "recommended" }, { "name": "DNA repair protein XRCC1", "type": "synonym" }, { "name": "X-ray repair complementing defective repair in Chinese hamster cells 1", "type": "synonym" }, { "name": "X-ray repair cross-complementing protein 1", "type": "synonym" } ], "gene_names": [ { "name": "xrcc1", "type": "recommended" }, { "name": "xrcc1", "type": "synonym" }, { "name": "zgc:91996", "type": "synonym" } ], "record_id": "A0AC58HG74-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "A0A8M3B2S9-1", "uniprot_ac": "A0A8M3B2S9", "uniprot_id": "A0A8M3B2S9_DANRE", "refseq_ac": "XP_009300056", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "DNA mismatch repair protein MSH3", "type": "recommended" }, { "name": "DNA mismatch repair protein MSH3", "type": "synonym" }, { "name": "DNA mismatch repair protein Msh3 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "msh3", "type": "recommended" }, { "name": "msh3", "type": "synonym" }, { "name": "si:dkey-56d12.1", "type": "synonym" } ], "record_id": "A0A8M3B2S9-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "P79734-1", "uniprot_ac": "P79734", "uniprot_id": "P53_DANRE", "refseq_ac": "NP_571402", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Cellular tumor antigen p53", "type": "recommended" }, { "name": "Tumor suppressor 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"common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "MAC-inhibitory protein", "type": "recommended" }, { "name": "CD59 glycoprotein precursor", "type": "synonym" }, { "name": "CD59 glycoprotein", "type": "synonym" }, { "name": "CD59 molecule, complement regulatory protein", "type": "synonym" }, { "name": "Membrane attack complex inhibition factor", "type": "synonym" }, { "name": "Protectin", "type": "synonym" }, { "name": "ly6/neurotoxin domain containing 1", "type": "synonym" } ], "gene_names": [ { "name": "cd59a", "type": "recommended" }, { "name": "cd59a", "type": "synonym" }, { "name": "cd59", "type": "synonym" }, { "name": "fj38b04", "type": "synonym" }, { "name": "lndc1", "type": "synonym" }, { "name": "ly6/neurotoxin like", "type": "synonym" }, { "name": "neurotoxin like", "type": "synonym" }, { "name": "wu:fj38b04", "type": "synonym" } ], "record_id": "E7F2M5-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "A0A0R4ITJ9-1", "uniprot_ac": "A0A0R4ITJ9", "uniprot_id": "A0A0R4ITJ9_DANRE", "refseq_ac": "NP_001303656", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "protein-tyrosine-phosphatase", "type": "recommended" }, { "name": "3.1.3.48", "type": "synonym" }, { "name": "receptor-type tyrosine-protein phosphatase beta precursor", "type": "synonym" }, { "name": "zve-ptp", "type": "synonym" } ], "gene_names": [ { "name": "ptprb", "type": "recommended" }, { "name": "R-PTP-beta", "type": "synonym" }, { "name": "ptprb", "type": "synonym" } ], "record_id": "A0A0R4ITJ9-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "A0A8M3ANX3-1", "uniprot_ac": "A0A8M3ANX3", "uniprot_id": "A0A8M3ANX3_DANRE", "refseq_ac": "XP_073798842", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "MAC-inhibitory protein", "type": "recommended" }, { "name": "CD59 glycoprotein isoform X1", "type": "synonym" }, { "name": "Membrane attack complex inhibition factor", "type": "synonym" }, { "name": "Protectin", "type": "synonym" } ], "gene_names": [ { "name": "cd59b", "type": "recommended" }, { "name": "cd59b", "type": "synonym" } ], "record_id": "A0A8M3ANX3-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "Q5XJ85-1", "uniprot_ac": "Q5XJ85", "uniprot_id": "MYD88_DANRE", "refseq_ac": "NP_997979", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Myeloid differentiation primary response protein MyD88", "type": "recommended" }, { "name": "myeloid differentiation primary response 88", "type": "synonym" }, { "name": "myeloid differentiation primary response factor 88", "type": "synonym" }, { "name": "myeloid differentiation primary response gene (88)", "type": "synonym" }, { "name": "myeloid differentiation primary response protein MyD88", "type": "synonym" }, { "name": "zMyD88", "type": "synonym" } ], "gene_names": [ { "name": "myd88", "type": "recommended" }, { "name": "myd88", "type": "synonym" }, { "name": "zgc:103541", "type": "synonym" } ], "record_id": "Q5XJ85-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "A0A8M6Z974-1", "uniprot_ac": "A0A8M6Z974", "uniprot_id": "A0A8M6Z974_DANRE", "refseq_ac": "XP_017214320", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "DNA excision repair protein ERCC-6", "type": "recommended" }, { "name": "ATP-dependent helicase ERCC6", "type": "synonym" }, { "name": "Cockayne syndrome protein CSB", "type": "synonym" }, { "name": "DNA excision repair protein ERCC-6", "type": "synonym" } ], "gene_names": [ { "name": "ercc6", "type": "recommended" }, { "name": "ercc6", "type": "synonym" } ], "record_id": "A0A8M6Z974-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "Q9DGE1-1", "uniprot_ac": "Q9DGE1", "uniprot_id": "MK14B_DANRE", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Mitogen-activated protein kinase 14B", "type": "recommended" }, { "name": "2.7.11.24", "type": "synonym" }, { "name": "MAP kinase 14B", "type": "synonym" }, { "name": "MAP kinase p38b", "type": "synonym" }, { "name": "MAPK 14B", "type": "synonym" }, { "name": "Mitogen-activated protein kinase p38b", "type": "synonym" }, { "name": "zp38b", "type": "synonym" } ], "gene_names": [ { "name": "mapk14b", "type": "recommended" }, { "name": "MAPK14", "type": "synonym" }, { "name": "mapk14", "type": "synonym" }, { "name": "p38b", "type": "synonym" }, { "name": "zp38b", "type": "synonym" } ], "record_id": "Q9DGE1-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "Q9DGE2-1", "uniprot_ac": "Q9DGE2", "uniprot_id": "MK14A_DANRE", "refseq_ac": "NP_571797", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Mitogen-activated protein kinase 14A", "type": "recommended" }, { "name": "2.7.11.24", "type": "synonym" }, { "name": "MAP kinase 14A", "type": "synonym" }, { "name": "MAP kinase p38a", "type": "synonym" }, { "name": "MAPK 14A", "type": "synonym" }, { "name": "Mitogen-activated protein kinase p38a", "type": "synonym" }, { "name": "etID18993.8", "type": "synonym" }, { "name": "mitogen-activated protein kinase 14A", "type": "synonym" }, { "name": "mitogen-activated protein kinase p38a", "type": "synonym" }, { "name": "zp38a", "type": "synonym" } ], "gene_names": [ { "name": "mapk14a", "type": "recommended" }, { "name": "MAPK14", "type": "synonym" }, { "name": "fk28c03", "type": "synonym" }, { "name": "hm:zeh1243", "type": "synonym" }, { "name": "mapk14a", "type": "synonym" }, { "name": "mapk14", "type": "synonym" }, { "name": "p38a", "type": "synonym" }, { "name": "p38", "type": "synonym" }, { "name": "wu:fk28c03", "type": "synonym" }, { "name": "zeh1243", "type": "synonym" }, { "name": "zp38a", "type": "synonym" } ], "record_id": "Q9DGE2-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "Q98TW1-1", "uniprot_ac": "Q98TW1", "uniprot_id": "NCOA2_DANRE", "refseq_ac": "NP_571852", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Nuclear receptor coactivator 2", "type": "recommended" }, { "name": "Glucocorticoid receptor-interacting protein 1", "type": "synonym" }, { "name": "NCoA-2", "type": "synonym" }, { "name": "NCoA2", "type": "synonym" }, { "name": "Steroid receptor coactivator 2", "type": "synonym" }, { "name": "Transcriptional intermediary factor 2", "type": "synonym" }, { "name": "grip1", "type": "synonym" }, { "name": "nuclear receptor coactivator 2", "type": "synonym" }, { "name": "src2", "type": "synonym" } ], "gene_names": [ { "name": "ncoa2", "type": "recommended" }, { "name": "grip1", "type": "synonym" }, { "name": "ncoa2", "type": "synonym" }, { "name": "src2", "type": "synonym" }, { "name": "tif2", "type": "synonym" }, { "name": "wu:fc41a10", "type": "synonym" }, { "name": "wu:fe26a11", "type": "synonym" } ], "record_id": "Q98TW1-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "O73874-1", "uniprot_ac": "O73874", "uniprot_id": "EFNB2_DANRE", "refseq_ac": "NP_571098", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Ephrin-B2a", "type": "recommended" }, { "name": "ephrin-B2a precursor", "type": "synonym" } ], "gene_names": [ { "name": "efnb2a", "type": "recommended" }, { "name": "efnb2a", "type": "synonym" }, { "name": "efnb2", "type": "synonym" }, { "name": "id:ibd5072", "type": "synonym" } ], "record_id": "O73874-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "A0A8N7UR22-1", "uniprot_ac": "A0A8N7UR22", "uniprot_id": "A0A8N7UR22_DANRE", "refseq_ac": "XP_691588", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Anthrax toxin receptor 1", "type": "recommended" }, { "name": "anthrax toxin receptor 1 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "antxr1d", "type": "recommended" }, { "name": "antxr1d", "type": "synonym" } ], "record_id": "A0A8N7UR22-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "A0AB32U207-1", "uniprot_ac": "A0AB32U207", "uniprot_id": "A0AB32U207_DANRE", "refseq_ac": "XP_068080131", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Anthrax toxin receptor 1", "type": "recommended" }, { "name": "anthrax toxin receptor 1 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "antxr1b", "type": "recommended" }, { "name": "antxr1b", "type": "synonym" } ], "record_id": "A0AB32U207-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "A0A0R4IC31-1", "uniprot_ac": "A0A0R4IC31", "uniprot_id": "A0A0R4IC31_DANRE", "refseq_ac": "NP_001268717", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "A kinase (PRKA) anchor protein (gravin) 12b", "type": "synonym" }, { "name": "A kinase (PRKA) anchor protein (gravin) 12", "type": "synonym" }, { "name": "A-kinase anchor protein 12b isoform 1", "type": "synonym" }, { "name": "gravin", "type": "synonym" } ], "gene_names": [ { "name": "akap12b", "type": "recommended" }, { "name": "akap12b", "type": "synonym" }, { "name": "akap12", "type": "synonym" }, { "name": "cb27", "type": "synonym" }, { "name": "esr1", "type": "synonym" }, { "name": "fb72g12", "type": "synonym" }, { "name": "id:ibd1202", "type": "synonym" }, { "name": "sb:cb27", "type": "synonym" }, { "name": "si:ch73-192g21.1", "type": "synonym" }, { "name": "wu:fb72g12", "type": "synonym" }, { "name": "wu:fc21c03", "type": "synonym" } ], "record_id": "A0A0R4IC31-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "E7F983-1", "uniprot_ac": "E7F983", "uniprot_id": "E7F983_DANRE", "refseq_ac": "XP_005158666", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Uncharacterized protein akap12a", "type": "synonym" }, { "name": "uncharacterized protein akap12a", "type": "synonym" } ], "gene_names": [ { "name": "akap12a", "type": "recommended" }, { "name": "akap12a", "type": "synonym" } ], "record_id": "E7F983-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "E7F2W8-1", "uniprot_ac": "E7F2W8", "uniprot_id": "E7F2W8_DANRE", "refseq_ac": "XP_692362", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Anthrax toxin receptor 1", "type": "recommended" }, { "name": "anthrax toxin receptor 1 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "antxr1c", "type": "recommended" }, { "name": "antxr1c", "type": "synonym" } ], "record_id": "E7F2W8-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "Q8JIR0-1", "uniprot_ac": "Q8JIR0", "uniprot_id": "BMI1A_DANRE", "refseq_ac": "NP_919347", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Polycomb complex protein BMI-1-A", "type": "recommended" }, { "name": "B lymphoma Mo-MLV insertion region 1 homolog", "type": "synonym" }, { "name": "B lymphoma Mo-MLV insertion region 1a", "type": "synonym" }, { "name": "BMI1 proto-oncogene, polycomb ring fingera", "type": "synonym" }, { "name": "Polycomb group RING finger protein 4-A", "type": "synonym" }, { "name": "bmi1 polycomb ring finger oncogene 1a", "type": "synonym" }, { "name": "polycomb complex protein BMI-1-A", "type": "synonym" }, { "name": "polycomb group RING finger protein 4-A", "type": "synonym" }, { "name": "polycomb group ring finger 4", "type": "synonym" } ], "gene_names": [ { "name": "bmi1a", "type": "recommended" }, { "name": "bmi1a", "type": "synonym" }, { "name": "bmi1", "type": "synonym" }, { "name": "pcgf4a", "type": "synonym" }, { "name": "pcgf4", "type": "synonym" }, { "name": "psc1", "type": "synonym" }, { "name": "wu:fb17g03", "type": "synonym" }, { "name": "wu:fd18f06", "type": "synonym" } ], "record_id": "Q8JIR0-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "Q7T3E6-1", "uniprot_ac": "Q7T3E6", "uniprot_id": 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[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": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "Q1L8E1-1", "uniprot_ac": "Q1L8E1", "uniprot_id": "Q1L8E1_DANRE", "refseq_ac": "NP_001038585", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "RAD21 cohesin complex component b", "type": "synonym" }, { "name": "RAD21 homolog b", "type": "synonym" } ], "gene_names": [ { "name": "rad21b", "type": "recommended" }, { "name": "rad21b", 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"0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "Q6TEL1-1", "uniprot_ac": "Q6TEL1", "uniprot_id": "RA21A_DANRE", "refseq_ac": "NP_955889", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Double-strand-break repair protein rad21 homolog A", "type": "recommended" }, { "name": "64-kDa carboxy-terminal product", "type": "synonym" }, { "name": "RAD21 homolog a", "type": "synonym" }, { "name": "SCC1 homolog", "type": "synonym" }, { "name": "double-strand-break repair protein rad21 homolog A", "type": "synonym" } ], "gene_names": [ { "name": "rad21a", "type": "recommended" }, { "name": "SCC1", "type": "synonym" }, { "name": "rad21a", "type": "synonym" }, { "name": "rad21", "type": "synonym" }, { "name": "wu:fb55d02", "type": "synonym" }, { "name": 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"type": "synonym" } ], "record_id": "A0A8M1PAE4-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "A0ACD6B5Y8-1", "uniprot_ac": "A0ACD6B5Y8", "uniprot_id": "A0ACD6B5Y8_DANRE", "refseq_ac": "XP_005169246", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Neurofibromin", "type": "recommended" }, { "name": "Neurofibromatosis-related protein NF-1", "type": "synonym" }, { "name": "neurofibromin isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "nf1b", "type": "recommended" }, { "name": "nf1b", "type": "synonym" } ], "record_id": "A0ACD6B5Y8-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "Q98SV1-1", "uniprot_ac": "Q98SV1", 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"url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "Q0VFV6-1", "uniprot_ac": "Q0VFV6", "uniprot_id": "SELS_DANRE", "refseq_ac": "NP_001038799", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Selenoprotein S", "type": "recommended" }, { "name": "SelS", "type": "synonym" }, { "name": "VCP-interacting membrane protein", "type": "synonym" }, { "name": "VCP-interacting membrane selenoprotein", "type": "synonym" }, { "name": "selenoprotein S", "type": "synonym" } ], "gene_names": [ { "name": "vimp", "type": "recommended" }, { "name": "selenos", "type": "synonym" }, { "name": "sels", "type": "synonym" }, { "name": "vimp", "type": "synonym" }, { "name": "wu:fc16a03", "type": "synonym" }, { "name": "zgc:136970", "type": "synonym" } ], "record_id": "Q0VFV6-1", "evidence": [ { "id": "0080199", 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"Methyl-CpG-binding protein MBD4", "type": "synonym" }, { "name": "Mismatch-specific DNA N-glycosylase", "type": "synonym" }, { "name": "methyl-CpG-binding domain protein 4 isoform 1", "type": "synonym" }, { "name": "methyl-CpG-binding protein MBD4", "type": "synonym" }, { "name": "mismatch-specific DNA N-glycosylase", "type": "synonym" } ], "gene_names": [ { "name": "Mbd4", "type": "recommended" }, { "name": "Mbd4", "type": "synonym" }, { "name": "Med1", "type": "synonym" } ], "record_id": "Q9Z2D7-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "Q64471-1", "uniprot_ac": "Q64471", "uniprot_id": "GSTT1_MOUSE", "refseq_ac": "NP_032211", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Glutathione S-transferase theta-1", "type": 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1-1", "type": "synonym" }, { "name": "GST class-mu 1", "type": "synonym" }, { "name": "Glutathione S-transferase GT8.7", "type": "synonym" }, { "name": "glutathione S-transferase GT8.7", "type": "synonym" }, { "name": "glutathione S-transferase Mu 1 isoform 2", "type": "synonym" }, { "name": "pmGT10", "type": "synonym" } ], "gene_names": [ { "name": "Gstm1", "type": "recommended" }, { "name": "Gstb-1", "type": "synonym" }, { "name": "Gstb1", "type": "synonym" }, { "name": "Gstm1", "type": "synonym" } ], "record_id": "P10649-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "P54276-1", "uniprot_ac": "P54276", "uniprot_id": "MSH6_MOUSE", "refseq_ac": "NP_034960", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "DNA mismatch repair 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"evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "Q60596-1", "uniprot_ac": "Q60596", "uniprot_id": "XRCC1_MOUSE", "refseq_ac": "NP_033558", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "DNA repair protein XRCC1", "type": "recommended" }, { "name": "DNA repair protein XRCC1 isoform 1", "type": "synonym" }, { "name": "DNA repair protein XRCC1", "type": "synonym" }, { "name": "X-ray repair complementing defective repair in Chinese hamster cells 1", "type": "synonym" }, { "name": "X-ray repair cross-complementing protein 1", "type": "synonym" } ], "gene_names": [ { "name": "Xrcc1", "type": "recommended" }, { "name": "Xrcc-1", "type": "synonym" }, { "name": "Xrcc1", "type": "synonym" } ], "record_id": "Q60596-1", "evidence": [ { "id": 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"taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "CD59A glycoprotein", "type": "recommended" }, { "name": "CD59 antigen", "type": "synonym" }, { "name": "CD59A glycoprotein precursor", "type": "synonym" }, { "name": "CD59A glycoprotein", "type": "synonym" }, { "name": "MAC-IP", "type": "synonym" }, { "name": "MAC-inhibitory protein", "type": "synonym" }, { "name": "MACIF", "type": "synonym" }, { "name": "Membrane attack complex inhibition factor", "type": "synonym" }, { "name": "Protectin", "type": "synonym" }, { "name": "membrane attack complex inhibition factor", "type": "synonym" }, { "name": "protectin", "type": "synonym" } ], "gene_names": [ { "name": "Cd59a", "type": "recommended" }, { "name": "Cd59a", "type": "synonym" }, { "name": "Cd59", "type": "synonym" }, { "name": "MAC-IP", "type": "synonym" }, { "name": "MACIF", "type": "synonym" } ], "record_id": "O55186-1", "evidence": [ { "id": 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"Bmi1 polycomb ring finger protot-oncogene", "type": "synonym" }, { "name": "Polycomb group RING finger protein 4", "type": "synonym" }, { "name": "polycomb complex protein BMI-1", "type": "synonym" }, { "name": "polycomb group RING finger protein 4", "type": "synonym" }, { "name": "polycomb group ring finger 4", "type": "synonym" } ], "gene_names": [ { "name": "Bmi1", "type": "recommended" }, { "name": "Bmi-1", "type": "synonym" }, { "name": "Bmi1", "type": "synonym" }, { "name": "Pcgf4", "type": "synonym" } ], "record_id": "P25916-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "P42227-1", "uniprot_ac": "P42227", "uniprot_id": "STAT3_MOUSE", "refseq_ac": "NP_998824", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Signal 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and ovarian cancer susceptibility protein", "type": "synonym" }, { "name": "breast cancer associated 1", "type": "synonym" }, { "name": "breast cancer type 1 susceptibility protein homolog", "type": "synonym" } ], "gene_names": [ { "name": "Brca1", "type": "recommended" }, { "name": "Brca1", "type": "synonym" } ], "record_id": "P48754-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "Q8VDS3-1", "uniprot_ac": "Q8VDS3", "uniprot_id": "CBX7_MOUSE", "refseq_ac": "NP_659060", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Chromobox protein homolog 7", "type": "recommended" }, { "name": "chromobox homolog 7", "type": "synonym" }, { "name": "chromobox protein homolog 7", "type": "synonym" } ], "gene_names": [ { "name": "Cbx7", "type": 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], "gene_names": [ { "name": "Axin2", "type": "recommended" }, { "name": "Axi1", "type": "synonym" }, { "name": "Axil", "type": "synonym" }, { "name": "Axin2", "type": "synonym" }, { "name": "Conductin", "type": "synonym" } ], "record_id": "O88566-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "Q61188-1", "uniprot_ac": "Q61188", "uniprot_id": "EZH2_MOUSE", "refseq_ac": "NP_031997", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Histone-lysine N-methyltransferase EZH2", "type": "recommended" }, { "name": "2.1.1.356", "type": "synonym" }, { "name": "ENX-1", "type": "synonym" }, { "name": "Enhancer of zeste homolog 2", "type": "synonym" }, { "name": "enhancer of zeste homolog 2", "type": "synonym" }, { "name": "histone-lysine 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musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Calumenin", "type": "recommended" }, { "name": "Crocalbin", "type": "synonym" }, { "name": "calumenin isoform 1 precursor", "type": "synonym" }, { "name": "crocalbin", "type": "synonym" } ], "gene_names": [ { "name": "Calu", "type": "recommended" }, { "name": "9530075H20Rik", "type": "synonym" }, { "name": "Calu", "type": "synonym" } ], "record_id": "O35887-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "Q99JY9-1", "uniprot_ac": "Q99JY9", "uniprot_id": "ARP3_MOUSE", "refseq_ac": "NP_001192314", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Actin-related protein 3", "type": 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"intestinal GPx", "type": "synonym" }, { "name": "phospholipid hydroperoxide glutathione peroxidase GPX2", "type": "synonym" } ], "gene_names": [ { "name": "Gpx2", "type": "recommended" }, { "name": "GI-GPx", "type": "synonym" }, { "name": "GPx-GI", "type": "synonym" }, { "name": "GSHPx-2", "type": "synonym" }, { "name": "GSHPx-GI", "type": "synonym" }, { "name": "Gpx2", "type": "synonym" } ], "record_id": "Q9JHC0-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "O54890-1", "uniprot_ac": "O54890", "uniprot_id": "ITB3_MOUSE", "refseq_ac": "NP_058060", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Integrin beta-3", "type": "recommended" }, { "name": "GPIIIa", "type": "synonym" }, { "name": "Platelet membrane glycoprotein IIIa", 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S288C [559292]" } ], "protein_names": [ { "name": "Inhibitory regulator protein IRA1", "type": "recommended" }, { "name": "GTPase-activating protein IRA1", "type": "synonym" } ], "gene_names": [ { "name": "IRA1", "type": "recommended" }, { "name": "GLC1", "type": "synonym" }, { "name": "IRA1", "type": "synonym" }, { "name": "PPD1", "type": "synonym" }, { "name": "YBR1016", "type": "synonym" } ], "record_id": "P18963-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "P19158-1", "uniprot_ac": "P19158", "uniprot_id": "IRA2_YEAST", "refseq_ac": "NP_014560", "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": "Inhibitory regulator protein IRA2", "type": "recommended" }, { "name": "Ras GTPase 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receptor-associated protein", "type": "recommended" }, { "name": "UNR-interacting protein", "type": "synonym" }, { "name": "serine-threonine kinase receptor-associated protein-like", "type": "synonym" }, { "name": "serine-threonine kinase receptor-associated protein", "type": "synonym" } ], "gene_names": [ { "name": "Strap", "type": "recommended" }, { "name": "Strap", "type": "synonym" }, { "name": "Unrip", "type": "synonym" } ], "record_id": "Q5XIG8-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "P27139-1", "uniprot_ac": "P27139", "uniprot_id": "CAH2_RAT", "refseq_ac": "NP_062164", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Carbonic anhydrase 2", "type": "recommended" }, { "name": "4.2.1.1", "type": "synonym" }, { "name": "4.2.1.69", "type": "synonym" }, { "name": "CA-II", "type": "synonym" }, { "name": "Carbonate dehydratase II", "type": "synonym" }, { "name": "Carbonic anhydrase II", "type": "synonym" }, { "name": "Cyanamide hydratase CA2", "type": "synonym" }, { "name": "carbonate dehydratase II", "type": "synonym" }, { "name": "carbonic anhydrase 2", "type": "synonym" }, { "name": "carbonic anhydrase II", "type": "synonym" }, { "name": "cyanamide hydratase CA2", "type": "synonym" } ], "gene_names": [ { "name": "Ca2", "type": "recommended" }, { "name": "Ca2", "type": "synonym" }, { "name": "Car2", "type": "synonym" } ], "record_id": "P27139-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "O70240-1", "uniprot_ac": "O70240", "uniprot_id": "AXIN2_RAT", "refseq_ac": "NP_077331", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": 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"reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Chitinase-3-like protein 1", "type": "recommended" }, { "name": "CGP-39", "type": "synonym" }, { "name": "Cartilage glycoprotein 39", "type": "synonym" }, { "name": "GP-39", "type": "synonym" }, { "name": "cartilage glycoprotein 39", "type": "synonym" }, { "name": "chitinase 3-like 1 (cartilage glycoprotein-39)", "type": "synonym" }, { "name": "chitinase 3-like 1 protein", "type": "synonym" }, { "name": "chitinase-3-like protein 1 isoform 1 precursor", "type": "synonym" }, { "name": "chitinase-3-like protein 1", "type": "synonym" } ], "gene_names": [ { "name": "Chi3l1", "type": "recommended" }, { "name": "CGP-39", "type": "synonym" }, { "name": "Chi3l1", "type": "synonym" }, { "name": "Chil1", "type": "synonym" }, { "name": "GP-39", "type": "synonym" }, { "name": "YKL-40", "type": "synonym" }, { "name": "YKL40", "type": "synonym" } ], "record_id": "Q9WTV1-1", "evidence": [ { "id": "0080199", "database": 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"Calumenin", "type": "recommended" }, { "name": "CBP-50", "type": "synonym" }, { "name": "Crocalbin", "type": "synonym" } ], "gene_names": [ { "name": "Calu", "type": "recommended" } ], "record_id": "O35783-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "O35923-1", "uniprot_ac": "O35923", "uniprot_id": "BRCA2_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": "Breast cancer type 2 susceptibility protein homolog", "type": "recommended" }, { "name": "Fanconi anemia group D1 protein homolog", "type": "synonym" } ], "gene_names": [ { "name": "Brca2", "type": "recommended" }, { "name": "Fancd1", "type": "synonym" } ], "record_id": "O35923-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": 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[10116]" } ], "protein_names": [ { "name": "Far upstream element-binding protein 1", "type": "recommended" }, { "name": "FBP", "type": "synonym" }, { "name": "FUSE-binding protein 1", "type": "synonym" }, { "name": "far upstream element (FUSE) binding protein 1", "type": "synonym" }, { "name": "far upstream element-binding protein 1 isoform 1", "type": "synonym" } ], "gene_names": [ { "name": "Fubp1", "type": "recommended" }, { "name": "Fubp1", "type": "synonym" } ], "record_id": "Q32PX7-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "P83645-1", "uniprot_ac": "P83645", "uniprot_id": "GPX2_RAT", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Glutathione peroxidase 2", "type": "recommended" }, { "name": "1.11.1.12", "type": "synonym" }, { "name": "1.11.1.9", "type": "synonym" }, { "name": "GPx-2", "type": "synonym" }, { "name": "GPx-GI", "type": "synonym" }, { "name": "GSHPx-2", "type": "synonym" }, { "name": "GSHPx-GI", "type": "synonym" }, { "name": "Glutathione peroxidase-gastrointestinal", "type": "synonym" }, { "name": "Phospholipid hydroperoxide glutathione peroxidase GPX2", "type": "synonym" } ], "gene_names": [ { "name": "Gpx2", "type": "recommended" } ], "record_id": "P83645-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "Q8R2H2-1", "uniprot_ac": "Q8R2H2", "uniprot_id": "ITB3_RAT", "refseq_ac": "NP_714942", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Integrin beta-3", "type": "recommended" }, { "name": 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"synonym" }, { "name": "exportin 1 (CRM1, yeast, homolog)", "type": "synonym" }, { "name": "exportin 1, CRM1 homolog", "type": "synonym" }, { "name": "exportin-1", "type": "synonym" } ], "gene_names": [ { "name": "Xpo1", "type": "recommended" }, { "name": "Crm1", "type": "synonym" }, { "name": "Xpo1", "type": "synonym" }, { "name": "exp1", "type": "synonym" } ], "record_id": "Q80U96-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "Q8VHV8-1", "uniprot_ac": "Q8VHV8", "uniprot_id": "SELS_RAT", "refseq_ac": "NP_775143", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Selenoprotein S", "type": "recommended" }, { "name": "SelS", "type": "synonym" }, { "name": "Sg2", "type": "synonym" }, { "name": "Tanis", "type": "synonym" }, { 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[10116]" } ], "protein_names": [ { "name": "Ornithine decarboxylase", "type": "recommended" }, { "name": "4.1.1.17", "type": "synonym" }, { "name": "ODC", "type": "synonym" }, { "name": "Ornitine decarboxylase", "type": "synonym" }, { "name": "ornithine decarboxylase", "type": "synonym" } ], "gene_names": [ { "name": "Odc1", "type": "recommended" }, { "name": "Odc1", "type": "synonym" }, { "name": "Odc", "type": "synonym" } ], "record_id": "P09057-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "A1Z7X7-1", "uniprot_ac": "A1Z7X7", "uniprot_id": "A1Z7X7_DROME", "refseq_ac": "NP_724816", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "1.11.1.9", "type": "synonym" }, { "name": "2.5.1.18", "type": "synonym" }, 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "Q23997-1", "uniprot_ac": "Q23997", "uniprot_id": "C5210_DROME", "refseq_ac": "NP_001286499", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Imaginal disk growth factor 6", "type": "recommended" }, { "name": "CG5210-PB", "type": "synonym" }, { "name": "Idgf6-PB", "type": "synonym" }, { "name": "Inactive chitinase-like protein", "type": "synonym" }, { "name": "chitinase-like", "type": "synonym" }, { "name": "imaginal disc growth factor 6, isoform B", "type": "synonym" } ], "gene_names": [ { "name": "Idgf6", "type": "recommended" }, { "name": "CG5210", "type": "synonym" }, { "name": "Chit13", "type": "synonym" }, { "name": "Chit", "type": "synonym" }, { "name": "Cht13", "type": "synonym" }, { 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inhibition protein", "type": "synonym" }, { "name": "Axn-PA", "type": "synonym" }, { "name": "CG7926-PA", "type": "synonym" }, { "name": "D-axin", "type": "synonym" }, { "name": "Dm axin", "type": "synonym" }, { "name": "axin, isoform A", "type": "synonym" }, { "name": "axin", "type": "synonym" }, { "name": "axn", "type": "synonym" }, { "name": "d-Axin", "type": "synonym" }, { "name": "dAxin", "type": "synonym" }, { "name": "glycogen synthase kinase 3beta", "type": "synonym" } ], "gene_names": [ { "name": "Axn", "type": "recommended" }, { "name": "0442/30", "type": "synonym" }, { "name": "30", "type": "synonym" }, { "name": "APC", "type": "synonym" }, { "name": "Axn", "type": "synonym" }, { "name": "CG7926", "type": "synonym" }, { "name": "D-Axin", "type": "synonym" }, { "name": "DAxin", "type": "synonym" }, { "name": "Daxin", "type": "synonym" }, { "name": "Dmel\\CG7926", "type": "synonym" }, { "name": "Dmel_CG7926", "type": "synonym" }, { "name": "GSK3beta", "type": "synonym" }, { "name": "GS", "type": "synonym" }, { "name": "axin", "type": "synonym" }, { "name": "axn", "type": "synonym" }, { "name": "d-axin", "type": "synonym" }, { "name": "dAXIN", "type": "synonym" }, { "name": "dAxin", "type": "synonym" }, { "name": "din", "type": "synonym" }, { "name": "l(3)S044230", "type": "synonym" } ], "record_id": "Q9V407-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "Q8MM24-1", "uniprot_ac": "Q8MM24", "uniprot_id": "IDGF1_DROME", "refseq_ac": "NP_477258", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Chitinase-like protein Idgf1", "type": "recommended" }, { "name": "CG4472-PA", "type": "synonym" }, { "name": "Idgf1-PA", "type": "synonym" }, { "name": "Imaginal disk growth factor 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"common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Polycomb group protein Pc", "type": "recommended" }, { "name": "CG32443-PA", "type": "synonym" }, { "name": "Pc-PA", "type": "synonym" }, { "name": "Protein polycomb", "type": "synonym" }, { "name": "polycomb", "type": "synonym" } ], "gene_names": [ { "name": "Pc", "type": "recommended" }, { "name": "CG32443", "type": "synonym" }, { "name": "CG7618", "type": "synonym" }, { "name": "DmPc", "type": "synonym" }, { "name": "Dmel\\CG32443", "type": "synonym" }, { "name": "PC", "type": "synonym" }, { "name": "Pc-G", "type": "synonym" }, { "name": "PcG", "type": "synonym" }, { "name": "Pc", "type": "synonym" }, { "name": "dPC", "type": "synonym" }, { "name": "pc", "type": "synonym" } ], "record_id": "P26017-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "P45888-1", "uniprot_ac": "P45888", "uniprot_id": "ARP2_DROME", "refseq_ac": "NP_001097001", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Actin-related protein 2", "type": "recommended" }, { "name": "Actin-like protein 14D", "type": "synonym" }, { "name": "Actin-like protein 2", "type": "synonym" }, { "name": "Actin-related protein 14 Da", "type": "synonym" }, { "name": "Actin-related protein 14D", "type": "synonym" }, { "name": "Actin-related protein 2, isoform B", "type": "synonym" }, { "name": "Arp14D", "type": "synonym" }, { "name": "Arp2-PB", "type": "synonym" }, { "name": "CG9901-PB", "type": "synonym" } ], "gene_names": [ { "name": "Arp2", "type": "recommended" }, { "name": "ARP14D", 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"reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Reticulocalbin-3", "type": "recommended" }, { "name": "CG9148-PA", "type": "synonym" }, { "name": "DNA supercoiling factor", "type": "synonym" }, { "name": "scf-PA", "type": "synonym" }, { "name": "supercoiling factor, isoform A", "type": "synonym" } ], "gene_names": [ { "name": "scf", "type": "recommended" }, { "name": "BEST:CK02682", "type": "synonym" }, { "name": "CG9148", "type": "synonym" }, { "name": "CK02682", "type": "synonym" }, { "name": "DCB-45", "type": "synonym" }, { "name": "Dmel\\CG9148", "type": "synonym" }, { "name": "Dmel_CG9148", "type": "synonym" }, { "name": "SCF", "type": "synonym" }, { "name": "anon-EST:Posey14", "type": "synonym" }, { "name": "scf", "type": "synonym" } ], "record_id": "Q9W0H8-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "P32392-1", "uniprot_ac": "P32392", "uniprot_id": "ARP3_DROME", "refseq_ac": "NP_001261559", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Actin-related protein 3", "type": "recommended" }, { "name": "Actin-2", "type": "synonym" }, { "name": "Actin-like protein 3", "type": "synonym" }, { "name": "Actin-like protein 66B", "type": "synonym" }, { "name": "Actin-related protein 3, isoform B", "type": "synonym" }, { "name": "Actin-related protein 66B", "type": "synonym" }, { "name": "Actin-related protein", "type": "synonym" }, { "name": "Arp3-PB", "type": "synonym" }, { "name": "CG7558-PB", "type": "synonym" }, { "name": "actin-related protein-3", "type": "synonym" }, { "name": "schwachling", "type": "synonym" } ], "gene_names": [ { "name": "Arp3", "type": "recommended" }, { "name": "ARP3", "type": "synonym" }, { "name": "AcTr66B", "type": "synonym" }, { "name": "Actr66B", "type": "synonym" }, { "name": "Arp3", "type": "synonym" }, { "name": "Arp66B", "type": "synonym" }, { "name": "Arp", "type": "synonym" }, { "name": "CG7558", "type": "synonym" }, { "name": "Dmel\\CG7558", "type": "synonym" }, { "name": "anon-WO0172774.138", "type": "synonym" }, { "name": "arp3", "type": "synonym" }, { "name": "arp66B", "type": "synonym" }, { "name": "arp66b", "type": "synonym" }, { "name": "schwachling", "type": "synonym" } ], "record_id": "P32392-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "Q8IMV4-1", "uniprot_ac": "Q8IMV4", "uniprot_id": "Q8IMV4_DROME", "refseq_ac": "NP_651298", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Carbonic anhydrase", "type": "recommended" }, { "name": "4.2.1.1", "type": "synonym" }, { "name": "CAH4-PA", "type": "synonym" }, { "name": "CG10899-PA", "type": "synonym" }, { "name": "carbonic anhydrase 4, isoform A", "type": "synonym" } ], "gene_names": [ { "name": "CAH4", "type": "recommended" }, { "name": "BcDNA:AT02719", "type": "synonym" }, { "name": "CAH4", "type": "synonym" }, { "name": "CG10899", "type": "synonym" }, { "name": "Dmel\\CG10899", "type": "synonym" }, { "name": "Dmel_CG10899", "type": "synonym" } ], "record_id": "Q8IMV4-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "Q9VB76-1", "uniprot_ac": "Q9VB76", "uniprot_id": "Q9VB76_DROME", "refseq_ac": "NP_651535", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Carbonic anhydrase", "type": "recommended" }, { "name": "4.2.1.1", "type": "synonym" }, { "name": "CAH9-PA", "type": "synonym" }, { "name": "CG6074-PA", "type": "synonym" }, { "name": "caix", "type": "synonym" }, { "name": "carbonic anhydrase 9", "type": "synonym" }, { "name": "carbonic anhydrase IX", "type": "synonym" } ], "gene_names": [ { "name": "CAH9", "type": "recommended" }, { "name": "CAH9", "type": "synonym" }, { "name": "CAIX", "type": "synonym" }, { "name": "CG6074", "type": "synonym" }, { "name": "CT19053", "type": "synonym" }, { "name": "Dmel\\CG6074", "type": "synonym" }, { "name": "Dmel_CG6074", "type": "synonym" }, { "name": "caix", "type": "synonym" } ], "record_id": "Q9VB76-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "A0A0B4LHX0-1", "uniprot_ac": "A0A0B4LHX0", "uniprot_id": "A0A0B4LHX0_DROME", "refseq_ac": "NP_001287620", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Carbonic anhydrase", "type": "recommended" }, { "name": "4.2.1.1", "type": "synonym" }, { "name": "CAH16-PC", "type": "synonym" }, { "name": "CG18672-PC", "type": "synonym" }, { "name": "carbonic anhydrase 16, isoform C", "type": "synonym" } ], "gene_names": [ { "name": "CAH16", "type": "recommended" }, { "name": "CAH16", "type": "synonym" }, { "name": "CG18672", "type": "synonym" }, { "name": "Dmel\\CG18672", "type": "synonym" }, { "name": "Dmel_CG18672", "type": "synonym" } ], "record_id": "A0A0B4LHX0-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "Q9V9Y8-1", "uniprot_ac": "Q9V9Y8", "uniprot_id": "Q9V9Y8_DROME", "refseq_ac": "NP_001097987", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Carbonic anhydrase", "type": "recommended" }, { "name": "4.2.1.1", "type": "synonym" }, { "name": "CAH6-PB", "type": "synonym" }, { "name": "CG3669-PB", "type": "synonym" }, { "name": "carbonic anhydrase 6", "type": "synonym" } ], "gene_names": [ { "name": "CAH6", "type": "recommended" }, { "name": "CAH6", "type": "synonym" }, { "name": "CG3669", "type": "synonym" }, { "name": "Dmel\\CG3669", "type": "synonym" }, { "name": "Dmel_CG3669", "type": "synonym" } ], "record_id": "Q9V9Y8-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "Q9V9Y6-1", "uniprot_ac": "Q9V9Y6", "uniprot_id": "Q9V9Y6_DROME", "refseq_ac": "NP_001097988", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Carbonic anhydrase", "type": "recommended" }, { "name": "4.2.1.1", "type": "synonym" }, { "name": "CAH5-PC", "type": "synonym" }, { "name": "CG18673-PC", "type": "synonym" }, { "name": "carbonic anhydrase 5", "type": "synonym" } ], "gene_names": [ { "name": "CAH5", "type": "recommended" }, { "name": "CAH5", "type": "synonym" }, { "name": "CG18673", "type": "synonym" }, { "name": "Dmel\\CG18673", "type": "synonym" }, { "name": "Dmel_CG18673", "type": "synonym" } ], "record_id": "Q9V9Y6-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "Q9VH26-1", "uniprot_ac": "Q9VH26", "uniprot_id": "Q9VH26_DROME", "refseq_ac": "NP_001287267", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Carbonic anhydrase", "type": "recommended" }, { "name": "4.2.1.1", "type": "synonym" }, { "name": "CAH7-PB", "type": "synonym" }, { "name": "CG3940-PB", "type": "synonym" }, { "name": "carbonic anhydrase 7, isoform B", "type": "synonym" } ], "gene_names": [ { "name": "CAH7", "type": "recommended" }, { "name": "CAH7", "type": "synonym" }, { "name": "CG3940", "type": "synonym" }, { "name": "Dmel\\CG3940", "type": "synonym" }, { "name": "Dmel_CG3940", "type": "synonym" } ], "record_id": "Q9VH26-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "A1ZAK8-1", "uniprot_ac": "A1ZAK8", "uniprot_id": "A1ZAK8_DROME", "refseq_ac": "NP_995862", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG8912-PC", "type": "synonym" }, { "name": "P element somatic inhibitor", "type": "synonym" }, { "name": "P-element somatic inhibitor protein", "type": "synonym" }, { "name": "P-element somatic inhibitor, isoform C", "type": "synonym" }, { "name": "P-element somatic inhibitor, isoform E", "type": "synonym" }, { "name": "P-element somatic", "type": "synonym" }, { "name": "Psi-PC", "type": "synonym" } ], "gene_names": [ { "name": "Psi", "type": "recommended" }, { "name": "CG8912", "type": "synonym" }, { "name": "Dmel\\CG8912", "type": "synonym" }, { "name": "Dmel_CG8912", "type": "synonym" }, { "name": "EG:EG0003.2", "type": "synonym" }, { "name": "PSI", "type": "synonym" }, { "name": "Psi", "type": "synonym" } ], "record_id": "A1ZAK8-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "P11584-1", "uniprot_ac": "P11584", "uniprot_id": "ITBX_DROME", "refseq_ac": "NP_001284998", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Integrin beta-PS", "type": "recommended" }, { "name": "CG1560-PC", "type": "synonym" }, { "name": "Integrin-betaPS", "type": "synonym" }, { "name": "Myospheroid/betaPS integrin", "type": "synonym" }, { "name": "PS integrin beta subunit", "type": "synonym" }, { "name": "PS-beta-integrin", "type": "synonym" }, { "name": "PSbeta-integrin", "type": "synonym" }, { "name": "Position-specific antigen beta subunit", "type": "synonym" }, { "name": "Protein myospheroid", "type": "synonym" }, { "name": "Protein olfactory C", "type": "synonym" }, { "name": "beta PS integrin", "type": "synonym" }, { "name": "beta integrin", "type": "synonym" }, { "name": "beta-PS integrin", "type": "synonym" }, { "name": "beta-PS-Integrin", "type": "synonym" }, { "name": "beta-PS1 integrin", "type": "synonym" }, { "name": "beta-integrin", "type": "synonym" }, { "name": "beta1 integrin", "type": "synonym" }, { "name": "beta1-integrin", "type": "synonym" }, { "name": "betaIntegrin", "type": "synonym" }, { "name": "betaPS integrin subunit", "type": "synonym" }, { "name": "betaPS integrin", "type": "synonym" }, { "name": "betaPS-Integrin", "type": "synonym" }, { "name": "betaPS.*integrin", "type": "synonym" }, { "name": "betaPS", "type": "synonym" }, { "name": "beta[[PS]] integrin subunit", "type": "synonym" }, { "name": "beta[[PS]] integrin", "type": "synonym" }, { "name": "beta[[PS]]-integrin", "type": "synonym" }, { "name": "beta[[mys]]-integrin", "type": "synonym" }, { "name": "integrin PSbeta", "type": "synonym" }, { "name": "integrin beta1", "type": "synonym" }, { "name": "integrin betaPS subunit", "type": "synonym" }, { "name": "integrin beta[[PS]] subunit", "type": "synonym" }, { "name": "integrin betaps", "type": "synonym" }, { "name": "integrinbeta", "type": "synonym" }, { "name": "lethal myospheroid", "type": "synonym" }, { "name": "lethal(1)93 pupal", "type": "synonym" }, { "name": "lethal(1)myospheroid", "type": "synonym" }, { "name": "myo-spheroid", "type": "synonym" }, { "name": "myospheriod", "type": "synonym" }, { "name": "myospheroid, isoform C", "type": "synonym" }, { "name": "mys-PC", "type": "synonym" }, { "name": "non-jumper-42", "type": "synonym" }, { "name": "olfactory C", "type": "synonym" }, { "name": "olfactory-C", "type": "synonym" } ], "gene_names": [ { "name": "mys", "type": "recommended" }, { "name": "BetaPS-Int", "type": "synonym" }, { "name": "BetaPS", "type": "synonym" }, { "name": "CG1560", "type": "synonym" }, { "name": "CT40473", "type": "synonym" }, { "name": "Dmel\\CG1560", "type": "synonym" }, { "name": "Dmel_CG1560", "type": "synonym" }, { "name": "EM28", "type": "synonym" }, { "name": "Integrin beta", "type": "synonym" }, { "name": "ItgbPS", "type": "synonym" }, { "name": "MAb6G11", "type": "synonym" }, { "name": "Mys", "type": "synonym" }, { "name": "PS integrin", "type": "synonym" }, { "name": "PS[[beta]]", "type": "synonym" }, { "name": "PSbeta", "type": "synonym" }, { "name": "PS", "type": "synonym" }, { "name": "bPS", "type": "synonym" }, { "name": "b[[PS]]", "type": "synonym" }, { "name": "beta integrin", "type": "synonym" }, { "name": "beta-Integrin", "type": "synonym" }, { "name": "beta-Int", "type": "synonym" }, { "name": "beta-PS-integrin", "type": "synonym" }, { "name": "beta-PS", "type": "synonym" }, { "name": "beta-integrin", "type": "synonym" }, { "name": "beta-int", "type": "synonym" }, { "name": "beta1", "type": "synonym" }, { "name": "betaInt", "type": "synonym" }, { "name": "betaPS Int", "type": "synonym" }, { "name": "betaPS integrin", "type": "synonym" }, { "name": "betaPS-Integrin", "type": "synonym" }, { "name": "betaPS-integrin", "type": "synonym" }, { "name": "betaPS1", "type": "synonym" }, { "name": "betaPS", "type": "synonym" }, { "name": "beta[[PS]]-integrin", "type": "synonym" }, { "name": "beta[[PS]]", "type": "synonym" }, { "name": "beta[[P]]S", "type": "synonym" }, { "name": "beta[[mys]]", "type": "synonym" }, { "name": "betamys", "type": "synonym" }, { "name": "integrin beta[[PS]]", "type": "synonym" }, { "name": "l(1)7Db", "type": "synonym" }, { "name": "l(1)7Dn", "type": "synonym" }, { "name": "l(1)93p", "type": "synonym" }, { "name": "l(1)968", "type": "synonym" }, { "name": "l(1)DA551", "type": "synonym" }, { "name": "l(1)EM28", "type": "synonym" }, { "name": "l(1)G0233", "type": "synonym" }, { "name": "l(1)G0281", "type": "synonym" }, { "name": "l(1)mys", "type": "synonym" }, { "name": "mys", "type": "synonym" }, { "name": "nj42", "type": "synonym" }, { "name": "olfC", "type": "synonym" } ], "record_id": "P11584-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "O18373-1", "uniprot_ac": "O18373", "uniprot_id": "SPS1_DROME", "refseq_ac": "NP_725374", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Inactive selenide, water dikinase-like protein", "type": "recommended" }, { "name": "CG8553-PA", "type": "synonym" }, { "name": "Protein patufet", "type": "synonym" }, { "name": "Selenide,water dikinase", "type": "synonym" }, { "name": "Selenophosphate synthetase 1", "type": "synonym" }, { "name": "Sps1-PA", "type": "synonym" }, { "name": "lethal (2) SH1599", "type": "synonym" }, { "name": "patufet", "type": "synonym" }, { "name": "selD-like", "type": "synonym" }, { "name": "selenophosphate synthetase 1, isoform A", "type": "synonym" }, { "name": "selenophosphate synthetase 1", "type": "synonym" } ], "gene_names": [ { "name": "Sps1", "type": 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"name": "selD", "type": "synonym" } ], "record_id": "O18373-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "O62609-1", "uniprot_ac": "O62609", "uniprot_id": "SMAD4_DROME", "refseq_ac": "NP_524610", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "SMAD family member 4", "type": "recommended" }, { "name": "CG1775-PA", "type": "synonym" }, { "name": "MAD homolog", "type": "synonym" }, { "name": "Med-PA", "type": "synonym" }, { "name": "Mothers against DPP homolog", "type": "synonym" }, { "name": "Mothers against decapentaplegic homolog", "type": "synonym" }, { "name": "Protein medea", "type": "synonym" }, { "name": "dSMAD4", "type": "synonym" }, { "name": "demented", "type": "synonym" }, { "name": "lethal(3)SG36", "type": "synonym" }, { "name": "lethal(3)SG70", "type": "synonym" }, { "name": "medea, isoform A", "type": "synonym" }, { "name": "medea", "type": "synonym" }, { "name": "media", "type": "synonym" } ], "gene_names": [ { "name": "Med", "type": "recommended" }, { "name": "3R16", "type": "synonym" }, { "name": "CG1775", "type": "synonym" }, { "name": "DMT", "type": "synonym" }, { "name": "Dmel\\CG1775", "type": "synonym" }, { "name": "E(zen)3", "type": "synonym" }, { "name": "MED", "type": "synonym" }, { "name": "Med", "type": "synonym" }, { "name": "SMAD4", "type": "synonym" }, { "name": "Smad4", "type": "synonym" }, { "name": "anon-EST:Posey121", "type": "synonym" }, { "name": "dSmad4", "type": "synonym" }, { "name": "demented", "type": "synonym" }, { "name": "l(3)11m-254", "type": "synonym" }, { "name": "l(3)12m-137", "type": "synonym" }, { "name": "l(3)SG36", "type": "synonym" }, { "name": "l(3)SG70", "type": "synonym" }, { "name": "l(3)XIIm137", "type": "synonym" }, { "name": "medea", "type": "synonym" }, { "name": "med", "type": "synonym" }, { "name": "smad4", "type": "synonym" } ], "record_id": "O62609-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "Q9VHC7-1", "uniprot_ac": "Q9VHC7", "uniprot_id": "Q9VHC7_DROME", "refseq_ac": "NP_649899", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG9373-PA", "type": "synonym" }, { "name": "Hrp59", "type": "synonym" }, { "name": "Rumpelstiltskin, isoform A", "type": "synonym" }, { "name": "heterogeneous nuclear ribonucleoprotein M", "type": "synonym" }, { "name": "heterogeneous nuclear ribonucleoprotein S5", "type": "synonym" }, { "name": "p75", "type": "synonym" }, { "name": "rump-PA", "type": "synonym" }, { "name": "rumpelstiltskin, isoform A", "type": "synonym" }, { "name": "rumpelstiltskin", "type": "synonym" } ], "gene_names": [ { "name": "rump", "type": "recommended" }, { "name": "CG9373", "type": "synonym" }, { "name": "Dmel\\CG9373", "type": "synonym" }, { "name": "Dmel_CG9373", "type": "synonym" }, { "name": "HnRNP-S5", "type": "synonym" }, { "name": "Hrp59", "type": "synonym" }, { "name": "Rump", "type": "synonym" }, { "name": "S5", "type": "synonym" }, { "name": "cg9373", "type": "synonym" }, { "name": "hnRNP M", "type": "synonym" }, { "name": "hrp59", "type": "synonym" }, { "name": "p70", "type": "synonym" }, { "name": "p75", "type": "synonym" }, { "name": "rump", "type": "synonym" } ], "record_id": "Q9VHC7-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "A0AQH0-1", "uniprot_ac": "A0AQH0", "uniprot_id": "A0AQH0_DROME", "refseq_ac": "NP_652031", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Proteasome subunit beta", "type": "recommended" }, { "name": "CG8392-PA", "type": "synonym" }, { "name": "Prosbeta1-PA", "type": "synonym" }, { "name": "beta1", "type": "synonym" }, { "name": "lethal (2) 05070", "type": "synonym" }, { "name": "proteasome beta1 subunit", "type": "synonym" } ], "gene_names": [ { "name": "Prosbeta1", "type": "recommended" }, { "name": "1(2)05070", "type": "synonym" }, { "name": "8392", "type": "synonym" }, { "name": "B[[1]]", "type": "synonym" }, { "name": "Beta 1 subunit", "type": "synonym" }, { "name": "Beta-1", "type": "synonym" }, { "name": "CG8392", "type": "synonym" }, { "name": "Dmel\\CG8392", "type": "synonym" }, { "name": "Dmel_CG8392", "type": "synonym" }, { "name": "Prosbeta1", "type": "synonym" }, { "name": "beta-1", "type": "synonym" }, { "name": "beta1", "type": "synonym" }, { "name": "l(2)05070", "type": "synonym" }, { "name": "prosbeta1", "type": "synonym" } ], "record_id": "A0AQH0-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "A0A0B4LHY5-1", "uniprot_ac": "A0A0B4LHY5", "uniprot_id": "A0A0B4LHY5_DROME", "refseq_ac": "NP_001287536", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG17367-PD", "type": "synonym" }, { "name": "Lnk, isoform D", "type": "synonym" }, { "name": "Lnk-PD", "type": "synonym" } ], "gene_names": [ { "name": "Lnk", "type": "recommended" }, { "name": "CG 17367", "type": "synonym" }, { "name": "CG17367", "type": "synonym" }, { "name": "CG5908", "type": "synonym" }, { "name": "Dmel\\CG17367", "type": "synonym" }, { "name": "Dmel_CG17367", "type": "synonym" }, { "name": "LNK", "type": "synonym" }, { "name": "Lnk", "type": "synonym" }, { "name": "SH2B", "type": "synonym" }, { "name": "dSH2B", "type": "synonym" }, { "name": "lnk", "type": "synonym" } ], "record_id": "A0A0B4LHY5-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "Q9VYB0-1", "uniprot_ac": "Q9VYB0", "uniprot_id": "BTHD_DROME", "refseq_ac": "NP_572903", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Selenoprotein BthD", "type": "recommended" }, { "name": "BthD selenoprotein", "type": "synonym" }, { "name": "BthD-PA", "type": "synonym" }, { "name": "BthDselenoprotein", "type": "synonym" }, { "name": "CG11177-PA", "type": "synonym" }, { "name": "dSelM", "type": "synonym" } ], "gene_names": [ { "name": "BthD", "type": "recommended" }, { "name": "BthD", "type": "synonym" }, { "name": "CG11177", "type": "synonym" }, { "name": "Dmel\\CG11177", "type": "synonym" }, { "name": "SelH", "type": "synonym" }, { "name": "dSelH", "type": "synonym" }, { "name": "dselH", "type": "synonym" }, { "name": "dselM", "type": "synonym" } ], "record_id": "Q9VYB0-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "Q9VJB9-1", "uniprot_ac": "Q9VJB9", "uniprot_id": "Q9VJB9_DROME", "refseq_ac": "NP_609854", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Selenoprotein BthD", "type": "recommended" }, { "name": "CG15147-PA", "type": "synonym" }, { "name": "uncharacterized protein", "type": "synonym" } ], "gene_names": [ { "name": "Dmel\\CG15147", "type": "recommended" }, { "name": "CG15147", "type": "synonym" }, { "name": "Dmel\\CG15147", "type": "synonym" }, { "name": "Dmel_CG15147", "type": "synonym" } ], "record_id": "Q9VJB9-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "Q9VBJ2-1", "uniprot_ac": "Q9VBJ2", "uniprot_id": "Q9VBJ2_DROME", "refseq_ac": "NP_733132", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG8318-PB", "type": "synonym" }, { "name": "Neurofibromatosis-1", "type": "synonym" }, { "name": "Neurofibromin 1, isoform B", "type": "synonym" }, { "name": "Nf1-PB", "type": "synonym" }, { "name": "neurofibramatosis-1", "type": "synonym" }, { "name": "neurofibromatosis 1", "type": "synonym" }, { "name": "neurofibromatosis factor 1", "type": "synonym" }, { "name": "neurofibromatosis type 1", "type": "synonym" }, { "name": "neurofibromin 1, isoform B", "type": "synonym" }, { "name": "neurofibromin", "type": "synonym" } ], "gene_names": [ { "name": "Nf1", "type": "recommended" }, { "name": "CG8318", "type": "synonym" }, { "name": "Dmel\\CG8318", "type": "synonym" }, { "name": "Dmel_CG8318", "type": "synonym" }, { "name": "FBpp0084326", "type": "synonym" }, { "name": "NF-1", "type": "synonym" }, { "name": "NF1", "type": "synonym" }, { "name": "Nf-1", "type": "synonym" }, { "name": "Nf1", "type": "synonym" }, { "name": "dNF1", "type": "synonym" }, { "name": "dNf1", "type": "synonym" }, { "name": "nf1", "type": "synonym" } ], "record_id": "Q9VBJ2-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "Q9TVM2-1", "uniprot_ac": "Q9TVM2", "uniprot_id": "XPO1_DROME", 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"glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Tyrosine-protein kinase Src42A", "type": "recommended" }, { "name": "2.7.10.2", "type": "synonym" }, { "name": "CG44128-PA", "type": "synonym" }, { "name": "Dsrc41", "type": "synonym" }, { "name": "Src oncogene at 42A, isoform A", "type": "synonym" }, { "name": "Src42A-PA", "type": "synonym" }, { "name": "Tyrosine-protein kinase Src41", "type": "synonym" }, { "name": "src oncogene at 42A", "type": "synonym" }, { "name": "suppressor of pole hole", "type": "synonym" }, { "name": "suppressor of raf-like-oncogene", "type": "synonym" }, { "name": "tyrosine kinase 5", "type": "synonym" } ], "gene_names": [ { "name": "Src42A", "type": "recommended" }, { "name": "CG14471", "type": "synonym" }, { "name": "CG44128", "type": "synonym" }, { "name": "CG7873", "type": "synonym" }, { "name": "DSrc42A", "type": "synonym" }, { "name": "Dm SRC41", "type": "synonym" }, { "name": "DmHD-29", 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[9606]" } ], "protein_names": [ { "name": "Disks large homolog 2", "type": "recommended" }, { "name": "Channel-associated protein of synapse-110", "type": "synonym" }, { "name": "Chapsyn-110", "type": "synonym" }, { "name": "Postsynaptic density protein PSD-93", "type": "synonym" }, { "name": "channel-associated protein of synapse-110", "type": "synonym" }, { "name": "channel-associated protein of synapses, 110kDa", "type": "synonym" }, { "name": "discs, large homolog 2, chapsyn-110", "type": "synonym" }, { "name": "disks large homolog 2 isoform 1", "type": "synonym" }, { "name": "disks large homolog 2", "type": "synonym" }, { "name": "postsynaptic density protein PSD-93", "type": "synonym" }, { "name": "protein phosphatase 1, regulatory subunit 58", "type": "synonym" } ], "gene_names": [ { "name": "DLG2", "type": "recommended" }, { "name": "DLG2", "type": "synonym" }, { "name": "PPP1R58", "type": "synonym" }, { "name": "PSD-93", "type": "synonym" }, { "name": "PSD93", "type": 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"common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Defensin-6", "type": "recommended" }, { "name": "Defensin, alpha 6", "type": "synonym" }, { "name": "defensin, alpha 6, Paneth cell-specific", "type": "synonym" }, { "name": "defensin-6 preproprotein", "type": "synonym" }, { "name": "defensin-6", "type": "synonym" } ], "gene_names": [ { "name": "DEFA6", "type": "recommended" }, { "name": "DEF6", "type": "synonym" }, { "name": "DEFA6", "type": "synonym" }, { "name": "HD-6", "type": "synonym" } ], "record_id": "Q01524-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "O75618-1", "uniprot_ac": "O75618", "uniprot_id": "DEDD_HUMAN", "refseq_ac": "NP_001034800", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Death effector domain-containing protein", "type": "recommended" }, { "name": "DEDPro1", "type": "synonym" }, { "name": "Death effector domain-containing testicular molecule", "type": "synonym" }, { "name": "FLDED-1", "type": "synonym" }, { "name": "death effector domain-containing protein isoform b", "type": "synonym" }, { "name": "death effector domain-containing protein", "type": "synonym" }, { "name": "death effector domain-containing testicular molecule", "type": "synonym" } ], "gene_names": [ { "name": "DEDD", "type": "recommended" }, { "name": "CASP8IP1", "type": "synonym" }, { "name": "DEDD1", "type": "synonym" }, { "name": "DEDD", "type": "synonym" }, { "name": "DEDPRO1", "type": "synonym" }, { "name": "DEDPro1", "type": "synonym" }, { "name": "DEFT", "type": "synonym" }, { "name": "FLDED-1", "type": "synonym" }, { "name": "FLDED1", "type": "synonym" }, { "name": "KE05", "type": "synonym" } ], "record_id": "O75618-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "Q92905-1", "uniprot_ac": "Q92905", "uniprot_id": "CSN5_HUMAN", "refseq_ac": "NP_006828", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "COP9 signalosome complex subunit 5", "type": "recommended" }, { "name": "3.4.-.-", "type": "synonym" }, { "name": "38 kDa Mov34 homolog", "type": "synonym" }, { "name": "COP9 constitutive photomorphogenic homolog subunit 5", "type": "synonym" }, { "name": "COP9 signalosome complex subunit 5", "type": "synonym" }, { "name": "Jun activation domain-binding protein 1", "type": "synonym" }, { "name": "SGN5", "type": "synonym" }, { "name": "Signalosome subunit 5", "type": "synonym" }, { "name": "jun activation domain-binding protein 1", "type": "synonym" }, { "name": 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polypeptide", "type": "synonym" }, { "name": "collagen alpha-2(IX) chain precursor", "type": "synonym" }, { "name": "collagen alpha-2(IX) chain", "type": "synonym" }, { "name": "collagen, type IX, alpha 2", "type": "synonym" } ], "gene_names": [ { "name": "COL9A2", "type": "recommended" }, { "name": "COL9A2", "type": "synonym" }, { "name": "DJ39G22.4", "type": "synonym" }, { "name": "EDM2", "type": "synonym" }, { "name": "MED", "type": "synonym" }, { "name": "STL5", "type": "synonym" } ], "record_id": "Q14055-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "Q14050-1", "uniprot_ac": "Q14050", "uniprot_id": "CO9A3_HUMAN", "refseq_ac": "NP_001844", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Collagen alpha-3(IX) chain", "type": "recommended" }, { "name": "collagen IX, alpha-3 polypeptide", "type": "synonym" }, { "name": "collagen alpha-3(IX) chain precursor", "type": "synonym" }, { "name": "collagen alpha-3(IX) chain", "type": "synonym" }, { "name": "collagen type IX proteoglycan", "type": "synonym" }, { "name": "collagen, type IX, alpha 3", "type": "synonym" } ], "gene_names": [ { "name": "COL9A3", "type": "recommended" }, { "name": "COL9A3", "type": "synonym" }, { "name": "DJ885L7.4.1", "type": "synonym" }, { "name": "EDM3", "type": "synonym" }, { "name": "IDD", "type": "synonym" }, { "name": "MED", "type": "synonym" }, { "name": "STL6", "type": "synonym" } ], "record_id": "Q14050-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "P54259-1", "uniprot_ac": "P54259", "uniprot_id": "ATN1_HUMAN", "refseq_ac": "NP_001007027", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Atrophin-1", "type": "recommended" }, { "name": "Dentatorubral-pallidoluysian atrophy protein", "type": "synonym" }, { "name": "atrophin-1 isoform 1", "type": "synonym" }, { "name": "dentatorubral-pallidoluysian atrophy protein", "type": "synonym" } ], "gene_names": [ { "name": "ATN1", "type": "recommended" }, { "name": "ATN1", "type": "synonym" }, { "name": "B37", "type": "synonym" }, { "name": "CHEDDA", "type": "synonym" }, { "name": "D12S755E", "type": "synonym" }, { "name": "DRPLA", "type": "synonym" }, { "name": "HRS", "type": "synonym" }, { "name": "NOD", "type": "synonym" } ], "record_id": "P54259-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "Q9HBW0-1", "uniprot_ac": "Q9HBW0", "uniprot_id": "LPAR2_HUMAN", "refseq_ac": "NP_001382589", "glycoprotein": 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"NF1", "type": "recommended" }, { "name": "NF1", "type": "synonym" }, { "name": "NFNS", "type": "synonym" }, { "name": "VRNF", "type": "synonym" }, { "name": "WSS", "type": "synonym" } ], "record_id": "P21359-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "P63000-1", "uniprot_ac": "P63000", "uniprot_id": "RAC1_HUMAN", "refseq_ac": "NP_008839", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Ras-related C3 botulinum toxin substrate 1", "type": "recommended" }, { "name": "3.6.5.2", "type": "synonym" }, { "name": "Cell migration-inducing gene 5 protein", "type": "synonym" }, { "name": "Ras-like protein TC25", "type": "synonym" }, { "name": "cell migration-inducing gene 5 protein", "type": "synonym" }, { "name": "p21-Rac1", "type": "synonym" }, { "name": "ras-like protein TC25", "type": "synonym" }, { "name": "ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)", "type": "synonym" }, { "name": "ras-related C3 botulinum toxin substrate 1 isoform Rac1", "type": "synonym" } ], "gene_names": [ { "name": "RAC1", "type": "recommended" }, { "name": "MIG5", "type": "synonym" }, { "name": "MRD48", "type": "synonym" }, { "name": "RAC1", "type": "synonym" }, { "name": "Rac-1", "type": "synonym" }, { "name": "TC-25", "type": "synonym" }, { "name": "TC25", "type": "synonym" }, { "name": "p21-Rac1", "type": "synonym" } ], "record_id": "P63000-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "Q13485-1", "uniprot_ac": "Q13485", "uniprot_id": "SMAD4_HUMAN", "refseq_ac": "NP_005350", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", 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] }, { "uniprot_canonical_ac": "O60216-1", "uniprot_ac": "O60216", "uniprot_id": "RAD21_HUMAN", "refseq_ac": "NP_006256", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Double-strand-break repair protein rad21 homolog", "type": "recommended" }, { "name": "64-kDa carboxy-terminal product", "type": "synonym" }, { "name": "65-kDa carboxy-terminal product", "type": "synonym" }, { "name": "NXP-1", "type": "synonym" }, { "name": "Nuclear matrix protein 1", "type": "synonym" }, { "name": "RAD21 homolog", "type": "synonym" }, { "name": "SCC1 homolog", "type": "synonym" }, { "name": "double-strand-break repair protein rad21 homolog", "type": "synonym" }, { "name": "hHR21", "type": "synonym" }, { "name": "kleisin", "type": "synonym" }, { "name": "nuclear matrix protein 1", "type": "synonym" }, { "name": "protein involved in DNA double-strand 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"evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "P22352-1", "uniprot_ac": "P22352", "uniprot_id": "GPX3_HUMAN", "refseq_ac": "NP_001316719", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Glutathione peroxidase 3", "type": "recommended" }, { "name": "1.11.1.9", "type": "synonym" }, { "name": "Extracellular glutathione peroxidase", "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 glutathione peroxidase", "type": "synonym" }, { "name": "glutathione peroxidase 3 (plasma)", "type": "synonym" }, { "name": "glutathione 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}, { "uniprot_canonical_ac": "P30711-1", "uniprot_ac": "P30711", "uniprot_id": "GSTT1_HUMAN", "refseq_ac": "NP_000844", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Glutathione S-transferase theta-1", "type": "recommended" }, { "name": "2.5.1.18", "type": "synonym" }, { "name": "GST class-theta-1", "type": "synonym" }, { "name": "Glutathione transferase T1-1", "type": "synonym" }, { "name": "glutathione S-transferase theta-1 isoform a", "type": "synonym" }, { "name": "glutathione transferase T1-1", "type": "synonym" } ], "gene_names": [ { "name": "GSTT1", "type": "recommended" }, { "name": "GSTT1", "type": "synonym" } ], "record_id": "P30711-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "uniprot_canonical_ac": "O95243-1", "uniprot_ac": "O95243", "uniprot_id": "MBD4_HUMAN", "refseq_ac": "NP_001263199", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Methyl-CpG-binding domain protein 4", "type": "recommended" }, { "name": "3,N(4)-ethenocytosine glycosylase", "type": "synonym" }, { "name": "3.2.2.-", "type": "synonym" }, { "name": "G/5-fluorouracil mismatch glycosylase with biphasic kinetics", "type": "synonym" }, { "name": "G/T mismatch glycosylase", "type": "synonym" }, { "name": "G/U mismatch glycosylase", "type": "synonym" }, { "name": "Methyl-CpG-binding endonuclease 1", "type": "synonym" }, { "name": "Methyl-CpG-binding protein MBD4", "type": "synonym" }, { "name": "Mismatch-specific DNA N-glycosylase", "type": "synonym" }, { "name": "methyl-CpG binding domain protein 4", "type": "synonym" }, { "name": "methyl-CpG-binding domain protein 4 isoform 2", "type": "synonym" }, { "name": "methyl-CpG-binding endonuclease 1", "type": "synonym" }, { "name": "methyl-CpG-binding protein MBD4", "type": "synonym" }, { "name": "mismatch-specific DNA N-glycosylase", "type": "synonym" }, { "name": "putative methyl-CpG binding protein", "type": "synonym" } ], "gene_names": [ { "name": "MBD4", "type": "recommended" }, { "name": "MBD4", "type": "synonym" }, { "name": "MED1", "type": "synonym" }, { "name": "TPDS2", "type": "synonym" }, { "name": "UVM1", "type": "synonym" } ], "record_id": "O95243-1", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0080199" }