{ "disease_id": "DOID:0050908", "recommended_name": { "id": "DOID:0050908", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050908", "name": "myelodysplastic syndrome", "description": "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets." }, "synonyms": [ { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "myelodysplastic syndrome", "description": "A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001)" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "MDS", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "MDS, unclassifiable", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "MDS-U", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "Myelodysplastic Syndromes", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "dysmyelopoietic syndrome", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "hematopoeitic - myelodysplastic syndrome (MDS)", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "myelodysplasia", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "myelodysplastic neoplasm", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "myelodysplastic syndrome", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "myelodysplastic syndrome, somatic", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "myelodysplastic syndrome, unclassifiable", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "myelodysplastic syndrome/neoplasm", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "myelodysplastic syndromes", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "oligoblastic leukaemia", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "oligoblastic leukemia", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "preleukemia", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "smoldering leukemia", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "smouldering leukaemia", "description": "" }, { "id": "MIM:614286", "resource": "MIM", "url": "https://www.omim.org/entry/614286", "name": "Myelodysplastic syndrome", "description": "Myelodysplastic syndrome" } ], "children": [], "id_list": [ "DOID:0050908" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0050908", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050908", "categories": [] }, { "id": "MONDO:0018881", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "categories": [] }, { "id": "MIM:614286", "database": "MIM", "url": "https://www.omim.org/entry/614286", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "F6NIA2-1", "uniprot_ac": "F6NIA2", "uniprot_id": "F6NIA2_DANRE", "refseq_ac": "NP_001229924", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Lysine-specific histone demethylase", "type": 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"glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "BCL2-like 10 (apoptosis facilitator)", "type": "synonym" }, { "name": "Bcl-2-like protein 10", "type": "synonym" }, { "name": "Boo/DIVA", "type": "synonym" }, { "name": "bcl-2-like protein 10", "type": "synonym" }, { "name": "nrz", "type": "synonym" } ], "gene_names": [ { "name": "bcl2l10", "type": "recommended" }, { "name": "NR-13", "type": "synonym" }, { "name": "bcl2l10", "type": "synonym" }, { "name": "mcl1l", "type": "synonym" }, { "name": "nr13", "type": "synonym" }, { "name": "sb:cb78", "type": "synonym" } ], "record_id": "A0A8M1P8W8-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "F1R1K5-1", "uniprot_ac": "F1R1K5", "uniprot_id": "F1R1K5_DANRE", "refseq_ac": "NP_001315096", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "DNA (cytosine-5-)-methyltransferase", "type": "recommended" }, { "name": "2.1.1.37", "type": "synonym" }, { "name": "DNA (cytosine-5)-methyltransferase 3A isoform 1", "type": "synonym" }, { "name": "DNA (cytosine-5-)-methyltransferase 6", "type": "synonym" } ], "gene_names": [ { "name": "dnmt3ab", "type": "recommended" }, { "name": "dnmt3a1", "type": "synonym" }, { "name": "dnmt3ab", "type": "synonym" }, { "name": "dnmt6", "type": "synonym" } ], "record_id": "F1R1K5-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q08BS4-1", "uniprot_ac": "Q08BS4", "uniprot_id": "EZH2_DANRE", "refseq_ac": "NP_001070747", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], 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"id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "E9QFU4-1", "uniprot_ac": "E9QFU4", "uniprot_id": "E9QFU4_DANRE", "refseq_ac": "NP_001296755", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "V-myb avian myeloblastosis viral oncogene homolog-like 2a", "type": "synonym" }, { "name": "myb", "type": "synonym" }, { "name": "myeloblastosis oncogene", "type": "synonym" }, { "name": "myeloblastosis viral oncogene homolog-like 2a", "type": "synonym" }, { "name": "v-myb avian myeloblastosis viral oncogene homolog-like 2a", "type": "synonym" } ], "gene_names": [ { "name": "mybl2a", "type": "recommended" }, { "name": "fd99g04", "type": "synonym" }, { "name": "mybl2a", "type": "synonym" }, { "name": "wu:fd99g04", "type": "synonym" } ], "record_id": "E9QFU4-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "A0AB13A962-1", "uniprot_ac": "A0AB13A962", "uniprot_id": "A0AB13A962_DANRE", "refseq_ac": "NP_001352115", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "histone acetyltransferase", "type": "recommended" }, { "name": "2.3.1.48", "type": "synonym" }, { "name": "CREB binding protein b", "type": "synonym" }, { "name": "CREBBPa", "type": "synonym" } ], "gene_names": [ { "name": "crebbpb", "type": "recommended" }, { "name": "CBP-A", "type": "synonym" }, { "name": "Zfcbp", "type": "synonym" }, { "name": "crebbpb", "type": "synonym" }, { "name": "crebbp", "type": "synonym" }, { "name": "gb:dq017638", "type": "synonym" }, { "name": "im:7150488", "type": "synonym" }, { "name": "si:ch211-121i18.1", "type": "synonym" }, { "name": "wu:fp53a03", "type": "synonym" } ], "record_id": "A0AB13A962-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "F1Q795-1", "uniprot_ac": "F1Q795", "uniprot_id": "F1Q795_DANRE", "refseq_ac": "XP_021325303", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Sterile alpha motif domain-containing protein 9-like", "type": "synonym" }, { "name": "sterile alpha motif domain-containing protein 9-like", "type": "synonym" } ], "gene_names": [ { "name": "samd9l", "type": "recommended" }, { "name": "samd9l", "type": "synonym" } ], "record_id": "F1Q795-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "A0A8M2B8L6-1", "uniprot_ac": "A0A8M2B8L6", "uniprot_id": "A0A8M2B8L6_DANRE", "refseq_ac": "XP_005161826", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "histone acetyltransferase", "type": "recommended" }, { "name": "2.3.1.48", "type": "synonym" }, { "name": "CREB-binding protein isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "crebbpa", "type": "recommended" }, { "name": "crebbpa", "type": "synonym" } ], "record_id": "A0A8M2B8L6-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "A0A8M2BKD3-1", "uniprot_ac": "A0A8M2BKD3", "uniprot_id": "A0A8M2BKD3_DANRE", "refseq_ac": "NP_001159627", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Nucleophosmin", "type": "recommended" }, { "name": "nucleophosmin 1b (nucleolar phosphoprotein B23, numatrin)", "type": "synonym" }, { "name": "nucleophosmin 1b", "type": "synonym" }, { "name": "nucleophosmin/nucleoplasmin, 1b", "type": "synonym" }, { "name": "nucleophosmin/nucleoplasmin, 4", "type": "synonym" } ], "gene_names": [ { "name": "npm1b", "type": "recommended" }, { "name": "npm1b", "type": "synonym" }, { "name": "npm4", "type": "synonym" } ], "record_id": "A0A8M2BKD3-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "E7FCU0-1", "uniprot_ac": "E7FCU0", "uniprot_id": "E7FCU0_DANRE", "refseq_ac": "NP_955460", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Nucleophosmin", "type": "recommended" }, { "name": "nucleophosmin 1a (nucleolar phosphoprotein B23, numatrin)", "type": "synonym" }, { "name": "nucleophosmin 1a", "type": "synonym" }, { "name": "nucleophosmin 1", "type": "synonym" } ], "gene_names": [ { "name": "npm1a", "type": "recommended" }, { "name": "npm1a", "type": "synonym" }, { "name": "npm1", "type": "synonym" }, { "name": "sb:cb487", "type": "synonym" } ], "record_id": "E7FCU0-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q62093-1", "uniprot_ac": "Q62093", "uniprot_id": "SRSF2_MOUSE", "refseq_ac": "NP_035488", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Serine/arginine-rich splicing factor 2", "type": "recommended" }, { "name": "MRF-1", "type": "synonym" }, { "name": "Protein PR264", "type": "synonym" }, { "name": "Putative myelin regulatory factor 1", "type": "synonym" }, { "name": "SC-35", "type": "synonym" }, { "name": "Splicing component, 35 kDa", "type": "synonym" }, { "name": "Splicing factor SC35", "type": "synonym" }, { "name": "Splicing factor, arginine/serine-rich 2", "type": "synonym" }, { "name": "myelin regulatory factor 1", "type": "synonym" }, { "name": "putative myelin regulatory factor 1", "type": "synonym" }, { "name": "serine/arginine-rich splicing factor 2", "type": "synonym" }, { "name": "splicing component, 35 kDa", "type": "synonym" }, { "name": "splicing factor Sc35", "type": "synonym" }, { "name": "splicing factor, arginine/serine-rich 2 (SC-35)", "type": "synonym" } ], "gene_names": [ { "name": "Srsf2", "type": "recommended" }, { "name": "D11Wsu175e", "type": "synonym" }, { "name": "MRF-1", "type": "synonym" }, { "name": "Pr264", "type": "synonym" }, { "name": "SC35", "type": "synonym" }, { "name": "Sfrs10", "type": "synonym" }, { "name": "Sfrs2", "type": "synonym" }, { "name": "Srsf2", "type": "synonym" } ], "record_id": "Q62093-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q61937-1", "uniprot_ac": "Q61937", "uniprot_id": "NPM_MOUSE", "refseq_ac": "NP_032748", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Nucleophosmin", "type": "recommended" }, { "name": "NPM", "type": "synonym" }, { "name": "Nucleolar phosphoprotein B23", "type": "synonym" }, { "name": "Nucleolar protein NO38", "type": "synonym" }, { "name": "Numatrin", "type": "synonym" }, { "name": "nucleolar phosphoprotein B23", "type": "synonym" }, { "name": "nucleolar protein NO38", "type": "synonym" }, { "name": "nucleophosmin isoform 1", "type": "synonym" }, { "name": "numatrin", "type": "synonym" } ], "gene_names": [ { "name": "Npm1", "type": "recommended" }, { "name": "B23", "type": "synonym" }, { "name": "NO38", "type": "synonym" }, { "name": "Npm1", "type": "synonym" }, { "name": "Npm", "type": "synonym" } ], "record_id": "Q61937-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q99NB9-1", "uniprot_ac": "Q99NB9", "uniprot_id": "SF3B1_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": "Splicing factor 3B subunit 1", "type": "recommended" }, { "name": "Pre-mRNA-splicing factor SF3b 155 kDa subunit", "type": "synonym" }, { "name": "SAP 155", "type": "synonym" }, { "name": "SF3b155", "type": "synonym" }, { "name": "Spliceosome-associated protein 155", "type": "synonym" } ], "gene_names": [ { "name": "Sf3b1", "type": "recommended" }, { "name": "Sap155", "type": "synonym" } ], "record_id": "Q99NB9-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q9D906-1", "uniprot_ac": "Q9D906", "uniprot_id": "ATG7_MOUSE", "refseq_ac": "NP_001240646", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Ubiquitin-like modifier-activating enzyme ATG7", "type": "recommended" }, { "name": "APG7-like", "type": "synonym" }, { "name": "ATG12-activating enzyme E1 ATG7", "type": "synonym" }, { "name": "Autophagy-related protein 7", "type": "synonym" }, { "name": "Ubiquitin-activating enzyme E1-like protein", "type": "synonym" }, { "name": "autophagy-related protein 7", "type": "synonym" }, { "name": "mAGP7", "type": "synonym" }, { "name": "ubiquitin-activating enzyme E1-like protein", "type": "synonym" }, { "name": "ubiquitin-like modifier-activating enzyme ATG7 isoform 1", "type": "synonym" }, { "name": "ubiquitin-like modifier-activating enzyme ATG7", "type": "synonym" } ], "gene_names": [ { "name": "Atg7", "type": "recommended" }, { "name": "1810013K23Rik", "type": "synonym" }, { "name": "Agp7", "type": "synonym" }, { "name": "Apg7l", "type": "synonym" }, { "name": "Atg7l", "type": "synonym" }, { "name": "Atg7", "type": "synonym" }, { "name": "Gm21553", "type": "synonym" } ], "record_id": "Q9D906-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q69Z37-1", "uniprot_ac": "Q69Z37", "uniprot_id": "SAM9L_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": "Sterile alpha motif domain-containing protein 9-like", "type": "recommended" }, { "name": "SAM domain-containing protein 9-like", "type": "synonym" } ], "gene_names": [ { "name": "Samd9l", "type": "recommended" }, { "name": "Kiaa2005", "type": "synonym" } ], "record_id": "Q69Z37-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q9QZQ8-2", "uniprot_ac": "Q9QZQ8", "uniprot_id": "H2AY_MOUSE", "refseq_ac": "NP_001152985", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Core histone macro-H2A.1", "type": "recommended" }, { "name": "H2A histone family, member Y", "type": "synonym" }, { "name": "H2A.y", "type": "synonym" }, { "name": "H2A/y", "type": "synonym" }, { "name": "Histone macroH2A1", "type": "synonym" }, { "name": "MACROH2A1.2", "type": "synonym" }, { "name": "core histone macro-H2A.1 isoform 2", "type": "synonym" }, { "name": "core histone macro-H2A.1", "type": "synonym" }, { "name": "histone macroH2A1", "type": "synonym" }, { "name": "mH2A1", "type": "synonym" } ], "gene_names": [ { "name": "Macroh2a1", "type": "recommended" }, { "name": "H2AF12M", "type": "synonym" }, { "name": "H2afy", "type": "synonym" }, { "name": "Macroh2a1", "type": "synonym" }, { "name": "mH2a1", "type": "synonym" } ], "record_id": "Q9QZQ8-2", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "P45481-1", "uniprot_ac": "P45481", "uniprot_id": "CBP_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": "Histone lysine acetyltransferase CREBBP", "type": "recommended" }, { "name": "2.3.1.-", "type": "synonym" }, { "name": "2.3.1.48", "type": "synonym" }, { "name": "Protein lactyltransferas CREBBP", "type": "synonym" }, { "name": "Protein-lysine acetyltransferase CREBBP", "type": "synonym" } ], "gene_names": [ { "name": "Crebbp", "type": "recommended" }, { "name": "Cbp", "type": "synonym" } ], "record_id": "P45481-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "P59598-1", "uniprot_ac": "P59598", "uniprot_id": "ASXL1_MOUSE", "refseq_ac": "NP_001035028", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Polycomb group protein ASXL1", "type": "recommended" }, { "name": "Additional sex combs-like protein 1", "type": "synonym" }, { "name": "additional sex combs like 1", "type": "synonym" }, { "name": "additional sex combs-like protein 1", "type": "synonym" }, { "name": "polycomb group protein ASXL1", "type": "synonym" }, { "name": "putative Polycomb group protein ASXL1", "type": "synonym" } ], "gene_names": [ { "name": "Asxl1", "type": "recommended" }, { "name": "Asxl1", "type": "synonym" }, { "name": "Kiaa0978", "type": "synonym" } ], "record_id": "P59598-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "P08046-1", "uniprot_ac": "P08046", "uniprot_id": "EGR1_MOUSE", "refseq_ac": "NP_031939", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Early growth response protein 1", "type": "recommended" }, { "name": "EGR-1", "type": "synonym" }, { "name": "Krox-24 nuclear protein", "type": "synonym" }, { "name": "NGFI-A", "type": "synonym" }, { "name": "Nerve growth factor-induced protein A", "type": "synonym" }, { "name": "Transcription factor Zif268", "type": "synonym" }, { "name": "Zinc finger protein Krox-24", "type": "synonym" }, { "name": "early growth response protein 1", "type": "synonym" }, { "name": "nerve growth factor-induced protein A", "type": "synonym" }, { "name": "transcription factor Zif268", "type": "synonym" }, { "name": "zinc finger protein Krox-24", "type": "synonym" } ], "gene_names": [ { "name": "Egr1", "type": "recommended" }, { "name": "A530045N19Rik", "type": "synonym" }, { "name": "ETR103", "type": "synonym" }, { "name": "Egr-1", "type": "synonym" }, { "name": "Egr1", "type": "synonym" }, { "name": "Krox-1", "type": "synonym" }, { "name": "Krox-24", "type": "synonym" }, { "name": "Krox24", "type": "synonym" }, { "name": "NGF1-A", "type": "synonym" }, { "name": "NGFI-A", "type": "synonym" }, { "name": "NGFIA", "type": "synonym" }, { "name": "TIS8", "type": "synonym" }, { "name": "Zenk", "type": "synonym" }, { "name": "Zfp-6", "type": "synonym" }, { "name": "Zif268", "type": "synonym" }, { "name": "egr", "type": "synonym" } ], "record_id": "P08046-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "P54099-1", "uniprot_ac": "P54099", "uniprot_id": "DPOG1_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": "DNA polymerase subunit gamma-1", "type": "recommended" }, { "name": "2.7.7.7", "type": "synonym" }, { "name": "3'-5' exodeoxyribonuclease", "type": "synonym" }, { "name": "3.1.11.-", "type": "synonym" }, { "name": "4.2.99.-", "type": "synonym" }, { "name": "5'-deoxyribose-phosphate lyase", "type": "synonym" }, { "name": "Mitochondrial DNA polymerase catalytic subunit", "type": "synonym" }, { "name": "PolG-alpha", "type": "synonym" }, { "name": "PolgA", "type": "synonym" } ], "gene_names": [ { "name": "Polg", "type": "recommended" }, { "name": "Polg1", "type": "synonym" } ], "record_id": "P54099-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "P17679-1", "uniprot_ac": "P17679", "uniprot_id": "GATA1_MOUSE", "refseq_ac": "NP_032115", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Erythroid transcription factor", "type": "recommended" }, { "name": "Eryf1", "type": "synonym" }, { "name": "GATA-1", "type": "synonym" }, { "name": "GATA-binding factor 1", "type": "synonym" }, { "name": "GF-1", "type": "synonym" }, { "name": "NF-E1 DNA-binding protein", "type": "synonym" }, { "name": "erythroid transcription factor", "type": "synonym" } ], "gene_names": [ { "name": "Gata1", "type": "recommended" }, { "name": "Gata-1", "type": "synonym" }, { "name": "Gata1", "type": "synonym" }, { "name": "Gf-1", "type": "synonym" }, { "name": "eryf1", "type": "synonym" } ], "record_id": "P17679-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q99PU7-1", "uniprot_ac": "Q99PU7", "uniprot_id": "BAP1_MOUSE", "refseq_ac": "NP_081364", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Ubiquitin carboxyl-terminal hydrolase BAP1", "type": "recommended" }, { "name": "3.4.19.12", "type": "synonym" }, { "name": "BRCA1-associated protein 1", "type": "synonym" }, { "name": "UCH-X4", "type": "synonym" }, { 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"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 N-methyltransferase EZH2 isoform 1", "type": "synonym" }, { "name": "histone-lysine N-methyltransferase EZH2", "type": "synonym" } ], "gene_names": [ { "name": "Ezh2", "type": "recommended" }, { "name": "Enx-1", "type": "synonym" }, { "name": "Enx1h", "type": "synonym" }, { "name": "Ezh2", "type": "synonym" }, { "name": "KMT6", "type": "synonym" }, { "name": "mKIAA4065", "type": "synonym" } ], "record_id": "Q61188-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "O88508-1", "uniprot_ac": "O88508", 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S-transferase pmGT2", "type": "synonym" }, { "name": "glutathione S-transferase Mu 2", "type": "synonym" }, { "name": "glutathione S-transferase pmGT2", "type": "synonym" } ], "gene_names": [ { "name": "Gstm2", "type": "recommended" }, { "name": "Gstb-2", "type": "synonym" }, { "name": "Gstb2", "type": "synonym" }, { "name": "Gstm2", "type": "synonym" } ], "record_id": "P15626-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q8C1A3-1", "uniprot_ac": "Q8C1A3", "uniprot_id": "MTRR_MOUSE", "refseq_ac": "NP_001295404", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Methionine synthase reductase", "type": "recommended" }, { "name": "1.16.1.8", "type": "synonym" }, { "name": "AqCbl reductase", "type": "synonym" }, { "name": "Aquacobalamin reductase", "type": "synonym" }, { "name": "MSR", "type": "synonym" }, { "name": "aqCbl reductase", "type": "synonym" }, { "name": "aquacobalamin reductase", "type": "synonym" }, { "name": "methionine synthase reductase", "type": "synonym" } ], "gene_names": [ { "name": "Mtrr", "type": "recommended" }, { "name": "4732420G08", "type": "synonym" }, { "name": "MSR", "type": "synonym" }, { "name": "Mtrr", "type": "synonym" } ], "record_id": "Q8C1A3-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "P08556-1", "uniprot_ac": "P08556", "uniprot_id": "RASN_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": "GTPase NRas", "type": "recommended" }, { "name": "3.6.5.2", "type": "synonym" }, { "name": "Transforming protein N-Ras", "type": "synonym" } ], "gene_names": [ { "name": "Nras", "type": "recommended" } ], "record_id": "P08556-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q4JK59-1", "uniprot_ac": "Q4JK59", "uniprot_id": "TET2_MOUSE", "refseq_ac": "NP_001035490", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Methylcytosine dioxygenase TET2", "type": "recommended" }, { "name": "1.14.11.80", "type": "synonym" }, { "name": "Protein Ayu17-449", "type": "synonym" }, { "name": "methylcytosine dioxygenase TET2 isoform 1", "type": "synonym" }, { "name": "probable methylcytosine dioxygenase TET2", "type": "synonym" }, { "name": "tet oncogene 2", "type": "synonym" }, { "name": "tet oncogene family member 2", "type": "synonym" } ], "gene_names": [ { "name": "Tet2", "type": "recommended" }, { "name": "Ayu17-449", "type": "synonym" }, { "name": "E130014J05Rik", "type": "synonym" }, { "name": "Kiaa1546", "type": "synonym" }, { "name": "Tet2", "type": "synonym" }, { "name": "mKIAA1546", "type": "synonym" } ], "record_id": "Q4JK59-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "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 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"Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2", "type": "recommended" }, { "name": "CCCH type zinc finger, RNA-binding motif and serine/arginine rich protein 2", "type": "synonym" }, { "name": "U2(RNU2) small nuclear RNA auxiliary factor 1-like 2", "type": "synonym" }, { "name": "U2AF35-related protein", "type": "synonym" }, { "name": "URP", "type": "synonym" } ], "gene_names": [ { "name": "Zrsr2", "type": "recommended" }, { "name": "U2af1-rs2", "type": "synonym" }, { "name": "U2af1l2", "type": "synonym" }, { "name": "U2af1rs2", "type": "synonym" } ], "record_id": "Q62377-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q8CCH7-1", "uniprot_ac": "Q8CCH7", "uniprot_id": "FOG2_MOUSE", "refseq_ac": "NP_035896", "glycoprotein": "no", 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"synonym" }, { "name": "Zfpm2", "type": "synonym" } ], "record_id": "Q8CCH7-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q64707-1", "uniprot_ac": "Q64707", "uniprot_id": "U2AFL_MOUSE", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2-like", "type": "recommended" }, { "name": "CCCH type zinc finger, RNA-binding motif and serine/arginine rich protein 1", "type": "synonym" }, { "name": "SP2", "type": "synonym" }, { "name": "U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 1", "type": "synonym" }, { "name": "U2(RNU2) small nuclear RNA auxiliary factor 1-like 1", "type": "synonym" } ], "gene_names": [ { "name": "Zrsr2-ps1", "type": "recommended" }, { "name": "Sp2-7", "type": "synonym" }, { "name": "Sp2", "type": "synonym" }, { "name": "U2af1-rs1", "type": "synonym" }, { "name": "U2af1l1", "type": "synonym" }, { "name": "Zrsr1", "type": "synonym" } ], "record_id": "Q64707-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q99PV0-1", "uniprot_ac": "Q99PV0", "uniprot_id": "PRP8_MOUSE", "refseq_ac": "NP_619600", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Pre-mRNA-processing-splicing factor 8", "type": "recommended" }, { "name": "Splicing factor Prp8", "type": "synonym" }, { "name": "pre-mRNA-processing-splicing factor 8", "type": "synonym" }, { "name": "splicing factor Prp8", "type": "synonym" } ], "gene_names": [ { "name": "Prpf8", "type": "recommended" }, { "name": "D11Bwg0410e", "type": "synonym" }, { "name": "DBF3/PRP8", "type": "synonym" }, { "name": "Prp8", "type": "synonym" }, { "name": "Prpf8", "type": "synonym" }, { "name": "Sfprp8l", "type": "synonym" } ], "record_id": "Q99PV0-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q9WV32-1", "uniprot_ac": "Q9WV32", "uniprot_id": "ARC1B_MOUSE", "refseq_ac": "NP_075631", "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 2/3 complex subunit 1B", "type": "recommended" }, { "name": "Arp2/3 complex 41 kDa subunit", "type": "synonym" }, { "name": "actin-related protein 2/3 complex subunit 1B", "type": "synonym" }, { "name": "arp2/3 complex 41 kDa subunit", "type": "synonym" }, { "name": "p41-ARC", "type": "synonym" } ], "gene_names": [ { "name": "Arpc1b", "type": "recommended" }, { "name": "41kDa", "type": "synonym" }, { "name": "Arpc1b", "type": "synonym" }, { "name": "L72", "type": "synonym" }, { "name": "SOP2Hs", "type": "synonym" }, { "name": "p41-ARC", "type": "synonym" } ], "record_id": "Q9WV32-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q9Z1B3-1", "uniprot_ac": "Q9Z1B3", "uniprot_id": "PLCB1_MOUSE", "refseq_ac": "NP_001139302", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1", "type": "recommended" }, { "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 isoform 1", "type": "synonym" }, { "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1", "type": "synonym" }, { "name": "3.1.4.11", "type": "synonym" }, { "name": "PLC-154", "type": "synonym" }, { "name": "PLC-beta-1", "type": "synonym" }, { "name": "Phosphoinositide phospholipase C-beta-1", "type": "synonym" }, { "name": "Phospholipase C-beta-1", "type": "synonym" }, { "name": "phosphoinositide phospholipase C-beta-1", "type": "synonym" }, { "name": "phosphoinositide phospholipase C", "type": "synonym" }, { "name": "phospholipase C-beta-1a", "type": "synonym" } ], "gene_names": [ { "name": "Plcb1", "type": "recommended" }, { "name": "3110043I21Rik", "type": "synonym" }, { "name": "Plcb1", "type": "synonym" }, { "name": "Plcb", "type": "synonym" }, { "name": "mKIAA0581", "type": "synonym" } ], "record_id": "Q9Z1B3-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q64364-1", "uniprot_ac": "Q64364", 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"Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Rap1 GTPase-activating protein 1", "type": "recommended" }, { "name": "ARPP-90", "type": "synonym" }, { "name": "Rap1GAP1", "type": "synonym" }, { "name": "Rap1GAP", "type": "synonym" }, { "name": "rap1 GTPase-activating protein 1 isoform 1", "type": "synonym" }, { "name": "rap1 GTPase-activating protein 1", "type": "synonym" } ], "gene_names": [ { "name": "Rap1gap", "type": "recommended" }, { "name": "1300019I11Rik", "type": "synonym" }, { "name": "2310004O14Rik", "type": "synonym" }, { "name": "ARPP-90", "type": "synonym" }, { "name": "Gap", "type": "synonym" }, { "name": "Kiaa0474", "type": "synonym" }, { "name": "Rap1GAP1", "type": "synonym" }, { "name": "Rap1ga1", "type": "synonym" }, { "name": "Rap1gap", "type": "synonym" } ], "record_id": "A2ALS5-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, 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factor ligand 1f", "type": "synonym" }, { "name": "tumor necrosis factor ligand superfamily member 2", "type": "synonym" }, { "name": "tumor necrosis factor-alpha", "type": "synonym" } ], "gene_names": [ { "name": "Tnf", "type": "recommended" }, { "name": "DIF", "type": "synonym" }, { "name": "TNF-alpha", "type": "synonym" }, { "name": "TNF-a", "type": "synonym" }, { "name": "TNFSF2", "type": "synonym" }, { "name": "TNFalpha", "type": "synonym" }, { "name": "Tnfa", "type": "synonym" }, { "name": "Tnfsf1a", "type": "synonym" }, { "name": "Tnfsf2", "type": "synonym" }, { "name": "Tnf", "type": "synonym" }, { "name": "Tnlg1f", "type": "synonym" } ], "record_id": "P06804-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "O70372-1", "uniprot_ac": "O70372", "uniprot_id": "TERT_MOUSE", "refseq_ac": "NP_033380", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Telomerase reverse transcriptase", "type": "recommended" }, { "name": "2.7.7.49", "type": "synonym" }, { "name": "Telomerase catalytic subunit", "type": "synonym" }, { "name": "telomerase catalytic subunit", "type": "synonym" }, { "name": "telomerase reverse transcriptase beta", "type": "synonym" }, { "name": "telomerase reverse transcriptase isoform 1", "type": "synonym" } ], "gene_names": [ { "name": "Tert", "type": "recommended" }, { "name": "EST2", "type": "synonym" }, { "name": "TCS1", "type": "synonym" }, { "name": "TP2", "type": "synonym" }, { "name": "TRT", "type": "synonym" }, { "name": "TR", "type": "synonym" }, { "name": "Tert", "type": "synonym" } ], "record_id": "O70372-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q9Z0E8-1", "uniprot_ac": "Q9Z0E8", "uniprot_id": "S22A5_MOUSE", "refseq_ac": "NP_035526", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Organic cation/carnitine transporter 2", "type": "recommended" }, { "name": "High-affinity sodium-dependent carnitine cotransporter", "type": "synonym" }, { "name": "Solute carrier family 22 member 5", "type": "synonym" }, { "name": "high-affinity sodium-dependent carnitine cotransporter", "type": "synonym" }, { "name": "juvenile visceral steatosis", "type": "synonym" }, { "name": "organic cation/carnitine transporter 2 isoform 1", "type": "synonym" }, { "name": "organic cation/carnitine transporter 2", "type": "synonym" }, { "name": "solute carrier family 22 member 5", "type": "synonym" } ], "gene_names": [ { "name": "Slc22a5", "type": "recommended" }, { "name": "Lstpl", "type": "synonym" }, { "name": "Octn2", "type": 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auxillary factor 1", "type": "synonym" }, { "name": "U2 small nuclear ribonucleoprotein auxillary factor, 35-KD subunit", "type": "synonym" }, { "name": "U2 snRNP auxiliary factor small subunit", "type": "synonym" }, { "name": "U2(RNU2) small nuclear RNA auxiliary factor binding protein", "type": "synonym" }, { "name": "splicing factor U2AF 35 kDa subunit isoform b", "type": "synonym" }, { "name": "splicing factor U2AF 35kDa subunit", "type": "synonym" } ], "gene_names": [ { "name": "U2AF1", "type": "recommended" }, { "name": "FP793", "type": "synonym" }, { "name": "RNU2AF1", "type": "synonym" }, { "name": "RN", "type": "synonym" }, { "name": "U2AF1", "type": "synonym" }, { "name": "U2AF35", "type": "synonym" }, { "name": "U2AFBP", "type": "synonym" } ], "record_id": "Q01081-1", "evidence": [ { "id": "614286", "database": "MIM", "url": "https://www.omim.org/entry/614286" } ] }, { "uniprot_canonical_ac": "Q8IXJ9-1", "uniprot_ac": "Q8IXJ9", "uniprot_id": "ASXL1_HUMAN", "refseq_ac": "NP_056153", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Polycomb group protein ASXL1", "type": "recommended" }, { "name": "Additional sex combs-like protein 1", "type": "synonym" }, { "name": "additional sex combs like 1, transcriptional regulator", "type": "synonym" }, { "name": "additional sex combs like transcriptional regulator 1", "type": "synonym" }, { "name": "polycomb group protein ASXL1 isoform 1", "type": "synonym" }, { "name": "putative Polycomb group protein ASXL1", "type": "synonym" } ], "gene_names": [ { "name": "ASXL1", "type": "recommended" }, { "name": "ASXL1", "type": "synonym" }, { "name": "BOPS", "type": "synonym" }, { "name": "KIAA0978", "type": "synonym" }, { "name": "MDS", "type": "synonym" } ], "record_id": "Q8IXJ9-1", "evidence": [ { "id": "614286", "database": "MIM", "url": "https://www.omim.org/entry/614286" }, { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q9Y6X0-1", "uniprot_ac": "Q9Y6X0", "uniprot_id": "SETBP_HUMAN", "refseq_ac": "NP_001123582", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "SET-binding protein", "type": "recommended" }, { "name": "SEB", "type": "synonym" }, { "name": "SET-binding protein isoform b", "type": "synonym" }, { "name": "SET-binding protein", "type": "synonym" } ], "gene_names": [ { "name": "SETBP1", "type": "recommended" }, { "name": "KIAA0437", "type": "synonym" }, { "name": "MRD29", "type": "synonym" }, { "name": "SEB", "type": "synonym" }, { "name": "SETBP1", "type": "synonym" } ], "record_id": "Q9Y6X0-1", "evidence": [ { "id": "614286", "database": "MIM", "url": "https://www.omim.org/entry/614286" } ] }, { "uniprot_canonical_ac": "P23769-1", "uniprot_ac": "P23769", "uniprot_id": "GATA2_HUMAN", "refseq_ac": "NP_001139133", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Endothelial transcription factor GATA-2", "type": "recommended" }, { "name": "GATA-binding protein 2", "type": "synonym" }, { "name": "endothelial transcription factor GATA-2 isoform 1", "type": "synonym" }, { "name": "endothelial transcription factor GATA-2", "type": "synonym" } ], "gene_names": [ { "name": "GATA2", "type": "recommended" }, { "name": "DCML", "type": "synonym" }, { "name": "GATA2", "type": "synonym" }, { "name": "IMD21", "type": "synonym" }, { "name": "MONOMAC", "type": "synonym" }, { "name": "NFE1B", "type": "synonym" } ], "record_id": "P23769-1", "evidence": [ { "id": "614286", "database": "MIM", "url": "https://www.omim.org/entry/614286" }, { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "P33334-1", "uniprot_ac": "P33334", "uniprot_id": "PRP8_YEAST", "refseq_ac": "NP_012035", "glycoprotein": "yes", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "Pre-mRNA-splicing factor 8", "type": "recommended" }, { "name": "U4/U6-U5 snRNP complex subunit PRP8", "type": "synonym" } ], "gene_names": [ { "name": "PRP8", "type": "recommended" }, { "name": "DBF3", "type": "synonym" }, { "name": "DNA39", "type": "synonym" }, { "name": "PRP8", "type": "synonym" }, { "name": "RNA8", "type": "synonym" }, { "name": "SLT21", "type": "synonym" }, { "name": "USA2", "type": "synonym" } ], "record_id": "P33334-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "P49955-1", "uniprot_ac": "P49955", "uniprot_id": "SF3B1_YEAST", "refseq_ac": "NP_014015", "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": "U2 snRNP component HSH155", "type": "recommended" }, { "name": "U2 snRNP complex subunit HSH155", "type": "synonym" } ], "gene_names": [ { "name": "HSH155", "type": "recommended" }, { "name": "HSH155", "type": "synonym" }, { "name": "YM8021.14", "type": "synonym" } ], "record_id": "P49955-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "P06839-1", "uniprot_ac": "P06839", "uniprot_id": "RAD3_YEAST", "refseq_ac": "NP_011098", "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": "General transcription and DNA repair factor IIH helicase subunit XPD/RAD3", "type": "recommended" }, { "name": "5.6.2.3", "type": "synonym" }, { "name": "DNA 5'-3' helicase RAD3", "type": "synonym" }, { "name": "DNA repair helicase RAD3", "type": "synonym" }, { "name": "RNA polymerase II transcription factor B subunit RAD3", "type": "synonym" }, { "name": "TFB subunit RAD3", "type": "synonym" }, { "name": "TFIIH subunit XPD", "type": "synonym" }, { "name": "TFIIH/NER complex ATP-dependent 5'-3' DNA helicase subunit RAD3", "type": "synonym" } ], "gene_names": [ { "name": "RAD3", "type": "recommended" }, { "name": "RAD3", "type": "synonym" }, { "name": "REM1", "type": "synonym" } ], "record_id": "P06839-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "P41939-1", "uniprot_ac": "P41939", "uniprot_id": "IDHC_YEAST", "refseq_ac": "NP_013275", "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": "Isocitrate dehydrogenase [NADP] cytoplasmic", "type": "recommended" }, { "name": "1.1.1.42", "type": "synonym" }, { "name": "IDH", "type": "synonym" }, { "name": "IDP", "type": "synonym" }, { "name": "NADP(+)-specific ICDH", "type": "synonym" }, { "name": "Oxalosuccinate decarboxylase", "type": "synonym" }, { "name": "isocitrate dehydrogenase (NADP(+)) IDP2", "type": "synonym" } ], "gene_names": [ { "name": "IDP2", "type": "recommended" }, { "name": "IDP2", "type": "synonym" }, { "name": "L9470.12", "type": "synonym" } ], "record_id": "P41939-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "P43574-1", "uniprot_ac": "P43574", "uniprot_id": "GAT1_YEAST", "refseq_ac": "NP_116632", "glycoprotein": "yes", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "Transcriptional regulatory protein GAT1", "type": "recommended" }, { "name": "Gat1p", "type": "synonym" } ], "gene_names": [ { "name": "GAT1", "type": "recommended" }, { "name": "GAT1", "type": "synonym" }, { "name": "MEP80", "type": "synonym" }, { "name": "NIL1", "type": "synonym" } ], "record_id": "P43574-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "P21954-1", "uniprot_ac": "P21954", "uniprot_id": "IDHP_YEAST", "refseq_ac": "NP_010217", "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": "Isocitrate dehydrogenase [NADP], mitochondrial", "type": "recommended" }, { "name": "1.1.1.42", "type": "synonym" }, { "name": "IDH", "type": "synonym" }, { "name": "IDP", "type": "synonym" }, { "name": "NADP(+)-specific ICDH", "type": "synonym" }, { "name": "Oxalosuccinate decarboxylase", "type": "synonym" }, { "name": "isocitrate dehydrogenase (NADP(+)) IDP1", "type": "synonym" } ], "gene_names": [ { "name": "IDP1", "type": "recommended" }, { "name": "IDP1", "type": "synonym" } ], "record_id": "P21954-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "P26343-1", "uniprot_ac": "P26343", "uniprot_id": "DAL80_YEAST", "refseq_ac": "NP_012959", "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": "Nitrogen regulatory protein DAL80", "type": "recommended" }, { "name": "Dal80p", "type": "synonym" }, { "name": "Regulatory protein UGA43", "type": "synonym" } ], "gene_names": [ { "name": "DAL80", "type": "recommended" }, { "name": "DAL80", "type": "synonym" }, { "name": "UGA43", "type": "synonym" } ], "record_id": "P26343-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "P42944-1", "uniprot_ac": "P42944", "uniprot_id": "GZF3_YEAST", "refseq_ac": "NP_012425", "glycoprotein": "yes", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", 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"recommended" }, { "name": "Gstm2", "type": "synonym" }, { "name": "Gstm5l", "type": "synonym" } ], "record_id": "A0ABK0KWA5-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q01579-1", "uniprot_ac": "Q01579", "uniprot_id": "GSTT1_RAT", "refseq_ac": "NP_445745", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Glutathione S-transferase theta-1", "type": "recommended" }, { "name": "2.5.1.18", "type": "synonym" }, { "name": "GSH transferase theta 1-1", "type": "synonym" }, { "name": "GST 5-5", "type": "synonym" }, { "name": "GST class-theta-1", "type": "synonym" }, { "name": "Glutathione S-transferase 1 (theta)", "type": "synonym" }, { "name": "Glutathione S-transferase 5", "type": "synonym" }, { "name": "glutathione S-transferase 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"marenostrin", "type": "synonym" }, { "name": "pyrin", "type": "synonym" } ], "gene_names": [ { "name": "Mefv", "type": "recommended" }, { "name": "Mefv", "type": "synonym" }, { "name": "pyrin", "type": "synonym" } ], "record_id": "Q9JJ25-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "P04905-1", "uniprot_ac": "P04905", "uniprot_id": "GSTM1_RAT", "refseq_ac": "NP_058710", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Glutathione S-transferase Mu 1", "type": "recommended" }, { "name": "2.5.1.18", "type": "synonym" }, { "name": "GST 3-3", "type": "synonym" }, { "name": "GST Yb1", "type": "synonym" }, { "name": "GSTM1-1", "type": "synonym" }, { "name": "Glutathione S-transferase Yb-1", "type": "synonym" }, { "name": "glutathione S-transferase M1", "type": "synonym" }, { "name": "glutathione S-transferase Mu 1", "type": "synonym" }, { "name": "glutathione S-transferase Yb-1 subunit", "type": "synonym" }, { "name": "glutathione-S-transferase, mu type 1 (Yb1)", "type": "synonym" } ], "gene_names": [ { "name": "Gstm1", "type": "recommended" }, { "name": "GSTA3", "type": "synonym" }, { "name": "Gstm1", "type": "synonym" } ], "record_id": "P04905-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "P54311-1", "uniprot_ac": "P54311", "uniprot_id": "GBB1_RAT", "refseq_ac": "NP_112249", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1", "type": "recommended" }, { "name": "Guanine nucleotide-binding protein beta 1", "type": "synonym" }, { "name": "Transducin beta chain 1", "type": "synonym" }, { "name": "guanine nucleotide binding protein (G protein), beta 1", "type": "synonym" }, { "name": "guanine nucleotide binding protein (G protein), beta polypeptide 1", "type": "synonym" }, { "name": "guanine nucleotide binding protein, beta 1", "type": "synonym" }, { "name": "guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1", "type": "synonym" }, { "name": "guanine nucleotide-binding protein, beta-1 subunit", "type": "synonym" }, { "name": "transducin beta chain 1", "type": "synonym" } ], "gene_names": [ { "name": "Gnb1", "type": "recommended" }, { "name": "Gnb1", "type": "synonym" } ], "record_id": "P54311-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q498R1-1", "uniprot_ac": "Q498R1", "uniprot_id": "MTRR_RAT", "refseq_ac": "NP_001034092", 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"uniprot_canonical_ac": "P10361-1", "uniprot_ac": "P10361", "uniprot_id": "P53_RAT", "refseq_ac": "NP_112251", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Cellular tumor antigen p53", "type": "recommended" }, { "name": "Tumor suppressor p53", "type": "synonym" }, { "name": "cellular tumor antigen p53 isoform a", "type": "synonym" }, { "name": "cellular tumor antigen p53", "type": "synonym" }, { "name": "transformation related protein 53", "type": "synonym" }, { "name": "tumor protein p53 (Li-Fraumeni syndrome)", "type": "synonym" }, { "name": "tumor suppressor p53", "type": "synonym" } ], "gene_names": [ { "name": "Tp53", "type": "recommended" }, { "name": "P53", "type": "synonym" }, { "name": "Tp53", "type": "synonym" }, { "name": "Trp53", "type": "synonym" }, { "name": "p53", "type": "synonym" } ], "record_id": "P10361-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q9ESZ0-1", "uniprot_ac": "Q9ESZ0", "uniprot_id": "XRCC1_RAT", "refseq_ac": "NP_445887", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "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" }, { "name": "x-ray repair cross-complementing group 1 protein", "type": "synonym" } ], "gene_names": [ { "name": "Xrcc1", "type": "recommended" }, { "name": "Xrcc-1", "type": "synonym" }, { "name": "Xrcc1", "type": "synonym" } ], "record_id": "Q9ESZ0-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "D4A0R1-1", "uniprot_ac": "D4A0R1", "uniprot_id": "D4A0R1_RAT", "refseq_ac": "NP_001123973", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Zinc finger protein ZFPM2", "type": "recommended" }, { "name": "Friend of GATA protein 2", "type": "synonym" }, { "name": "Zinc finger protein multitype 2", "type": "synonym" }, { "name": "zinc finger protein ZFPM2 isoform 1", "type": "synonym" }, { "name": "zinc finger protein ZFPM2", "type": "synonym" } ], "gene_names": [ { "name": "Zfpm2", "type": "recommended" }, { "name": "FOG-2", "type": "synonym" }, { "name": "Zfpm2", "type": "synonym" } ], "record_id": "D4A0R1-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "D3ZHQ8-1", "uniprot_ac": "D3ZHQ8", "uniprot_id": "D3ZHQ8_RAT", "refseq_ac": "NP_001414218", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2", "type": "synonym" }, { "name": "Zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2", "type": "synonym" } ], "gene_names": [ { "name": "Zrsr2", "type": "recommended" }, { "name": "RGD1559763", "type": "synonym" }, { "name": "Zrsr2", "type": "synonym" } ], "record_id": "D3ZHQ8-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "G3V6H2-1", "uniprot_ac": "G3V6H2", "uniprot_id": "G3V6H2_RAT", "refseq_ac": 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"https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q673L6-1", "uniprot_ac": "Q673L6", "uniprot_id": "TERT_RAT", "refseq_ac": "NP_445875", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Telomerase reverse transcriptase", "type": "recommended" }, { "name": "2.7.7.49", "type": "synonym" }, { "name": "Telomerase catalytic subunit", "type": "synonym" }, { "name": "telomerase catalytic subunit", "type": "synonym" }, { "name": "telomerase reverse transcriptase", "type": "synonym" } ], "gene_names": [ { "name": "Tert", "type": "recommended" }, { "name": "Tert", "type": "synonym" } ], "record_id": "Q673L6-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "P16599-1", "uniprot_ac": "P16599", "uniprot_id": "TNFA_RAT", "refseq_ac": "NP_036807", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Tumor necrosis factor", "type": "recommended" }, { "name": "Cachectin", "type": "synonym" }, { "name": "N-terminal fragment", "type": "synonym" }, { "name": "NTF", "type": "synonym" }, { "name": "TNF-alpha", "type": "synonym" }, { "name": "TNF-a", "type": "synonym" }, { "name": "Tumor necrosis factor ligand superfamily member 2", "type": "synonym" }, { "name": "cachectin", "type": "synonym" }, { "name": "tumor necrosis factor (TNF superfamily, member 2)", "type": "synonym" }, { "name": "tumor necrosis factor ligand superfamily member 2", "type": "synonym" }, { "name": "tumor necrosis factor", "type": "synonym" } ], "gene_names": [ { "name": "Tnf", "type": "recommended" }, { "name": "RATTNF", "type": "synonym" }, { "name": "TNF-alpha", "type": "synonym" }, { "name": "Tnfa", "type": "synonym" }, { "name": "Tnfsf2", "type": "synonym" }, { "name": "Tnf", "type": "synonym" } ], "record_id": "P16599-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "D3ZHS6-1", "uniprot_ac": "D3ZHS6", "uniprot_id": "BAP1_RAT", "refseq_ac": "NP_001100762", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Ubiquitin carboxyl-terminal hydrolase BAP1", "type": "recommended" }, { "name": "3.4.19.12", "type": "synonym" }, { "name": "BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)", "type": "synonym" }, { "name": "BRCA1-associated protein 1", "type": "synonym" }, { "name": "Brca1 associated protein 1", "type": "synonym" }, { "name": "ubiquitin carboxyl-terminal hydrolase BAP1 isoform 4", "type": "synonym" }, { "name": "ubiquitin carboxyl-terminal hydrolase BAP1", "type": "synonym" } ], "gene_names": [ { "name": "Bap1", "type": "recommended" }, { "name": "Bap1", "type": "synonym" } ], "record_id": "D3ZHS6-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "P08154-1", "uniprot_ac": "P08154", "uniprot_id": "EGR1_RAT", "refseq_ac": "NP_036683", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Early growth response protein 1", "type": "recommended" }, { "name": "EGR-1", "type": "synonym" }, { "name": "NGFI-A", "type": "synonym" }, { "name": "Nerve growth factor-induced protein A", "type": "synonym" }, { "name": "Transcription factor Zif268", "type": "synonym" }, { "name": "Zinc finger protein Krox-24", "type": "synonym" }, { "name": "early growth response protein 1", "type": "synonym" }, { "name": "nerve growth factor-induced protein A", "type": "synonym" }, { "name": "transcription factor Zif268", "type": "synonym" }, { "name": "zinc finger protein Krox-24", "type": "synonym" } ], "gene_names": [ { "name": "Egr1", "type": "recommended" }, { "name": "Egr1", "type": "synonym" }, { "name": "Krox-24", "type": "synonym" }, { "name": "NGFI-A", "type": "synonym" }, { "name": "Ngf1", "type": "synonym" }, { "name": "Ngfi", "type": "synonym" }, { "name": "zif-268", "type": "synonym" } ], "record_id": "P08154-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "A0ABK0LKK8-1", "uniprot_ac": "A0ABK0LKK8", "uniprot_id": "A0ABK0LKK8_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": "Myb-related protein B", "type": "recommended" }, { "name": "Myb-like protein 2", "type": "synonym" } ], "gene_names": [ { "name": "Mybl2", "type": "recommended" } ], "record_id": "A0ABK0LKK8-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q9QYV8-1", "uniprot_ac": "Q9QYV8", "uniprot_id": "DPOG1_RAT", "refseq_ac": "NP_445980", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "DNA polymerase subunit gamma-1", "type": "recommended" }, { "name": "2.7.7.7", "type": "synonym" }, { "name": "3'-5' exodeoxyribonuclease", "type": "synonym" }, { "name": "3.1.11.-", "type": "synonym" }, { "name": "4.2.99.-", "type": "synonym" }, { "name": "5'-deoxyribose-phosphate lyase", "type": "synonym" }, { "name": "DNA polymerase subunit gamma-1", "type": "synonym" }, { "name": "DNA-directed DNA polymerase gamma", "type": "synonym" }, { "name": "Mitochondrial DNA polymerase catalytic subunit", "type": "synonym" }, { "name": "PolG-alpha", "type": "synonym" }, { "name": "mitochondrial DNA polymerase catalytic subunit", "type": "synonym" }, { "name": "polG-alpha", "type": "synonym" }, { "name": "polymerase (DNA directed), gamma", "type": "synonym" }, { "name": "polymerase (DNA) gamma, catalytic subunit", "type": "synonym" } ], "gene_names": [ { "name": "Polg", "type": "recommended" }, { "name": "Mip1", "type": "synonym" }, { "name": "Polg1", "type": "synonym" }, { "name": "Polg", "type": "synonym" } ], "record_id": "Q9QYV8-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "P13084-1", "uniprot_ac": "P13084", "uniprot_id": "NPM_RAT", "refseq_ac": "NP_037124", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Nucleophosmin", "type": "recommended" }, { "name": "NPM", "type": "synonym" }, { "name": "Nucleolar phosphoprotein B23", "type": "synonym" }, { "name": "Nucleolar protein NO38", "type": "synonym" }, { "name": "Numatrin", "type": "synonym" }, { "name": "nucleolar phosphoprotein B23", "type": "synonym" }, { "name": "nucleolar protein B23.1", "type": "synonym" }, { "name": "nucleolar protein NO38", "type": "synonym" }, { "name": "nucleophosmin (nucleolar phosphoprotein B23, numatrin)", "type": "synonym" }, { "name": "nucleophosmin isoform 1", "type": "synonym" }, { "name": "numatrin", "type": "synonym" } ], "gene_names": [ { "name": "Npm1", "type": "recommended" }, { "name": "AABR07041089.1", "type": "synonym" }, { "name": "B23NP", "type": "synonym" }, { "name": "Npm1", "type": "synonym" } ], "record_id": "P13084-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "A0A0G2JVT8-1", "uniprot_ac": "A0A0G2JVT8", "uniprot_id": "A0A0G2JVT8_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": "Sterile alpha motif domain-containing protein 9-like", "type": "recommended" } ], "gene_names": [ { "name": "Samd9l", "type": "recommended" }, { "name": "Samd9l1", "type": "synonym" } ], "record_id": "A0A0G2JVT8-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q6JHU9-1", "uniprot_ac": "Q6JHU9", "uniprot_id": "CBP_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": "Histone lysine acetyltransferase CREBBP", "type": "recommended" }, { "name": "2.3.1.-", "type": "synonym" }, { "name": "2.3.1.48", "type": "synonym" }, { "name": "Protein lactyltransferas CREBBP", "type": "synonym" }, { "name": "Protein-lysine acetyltransferase CREBBP", "type": "synonym" } ], "gene_names": [ { "name": "Crebbp", "type": "recommended" }, { "name": "Cbp", "type": "synonym" } ], "record_id": "Q6JHU9-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q02874-2", "uniprot_ac": "Q02874", "uniprot_id": "H2AY_RAT", "refseq_ac": "NP_058878", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Core histone macro-H2A.1", "type": "recommended" }, { "name": "H2A histone family, member Y", "type": "synonym" }, { "name": "H2A.y", "type": "synonym" }, { "name": "H2A/y", "type": "synonym" }, { "name": "Histone macroH2A1", "type": "synonym" }, { "name": "core histone macro-H2A.1", "type": "synonym" }, { "name": "histone macroH2A1", "type": "synonym" }, { "name": "mH2A1", "type": "synonym" } ], "gene_names": [ { "name": "Macroh2a1", "type": "recommended" }, { "name": "H2A.y", "type": "synonym" }, { "name": "H2A/y", "type": "synonym" }, { "name": "H2afy", "type": "synonym" }, { "name": "Macroh2a1", "type": "synonym" }, { "name": "mH2A1", "type": "synonym" } ], "record_id": "Q02874-2", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q641Y5-1", "uniprot_ac": "Q641Y5", "uniprot_id": "ATG7_RAT", "refseq_ac": "NP_001012097", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Ubiquitin-like modifier-activating enzyme ATG7", "type": "recommended" }, { "name": "APG7-like", "type": "synonym" }, { "name": "ATG12-activating enzyme E1 ATG7", "type": "synonym" }, { "name": "ATG7 autophagy related 7 homolog", "type": "synonym" }, { "name": "Autophagy-related protein 7", "type": "synonym" }, { "name": "autophagy 7-like", "type": "synonym" }, { "name": "autophagy-related protein 7", "type": "synonym" }, { "name": "ubiquitin-activating enzyme E1-like protein", "type": "synonym" }, { "name": "ubiquitin-like modifier-activating enzyme ATG7", "type": "synonym" } ], "gene_names": [ { "name": "Atg7", "type": "recommended" }, { "name": "Apg7l", "type": "synonym" }, { "name": "Atg7", "type": "synonym" } ], "record_id": "Q641Y5-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "P35284-1", "uniprot_ac": "P35284", "uniprot_id": "RAB12_RAT", "refseq_ac": "NP_037149", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Ras-related protein Rab-12", "type": "recommended" }, { "name": "3.6.5.2", "type": "synonym" }, { "name": "ras-related protein Rab-12-like", "type": "synonym" }, { "name": "ras-related protein Rab-12", "type": "synonym" } ], "gene_names": [ { "name": "Rab12", "type": "recommended" }, { "name": "LOC100362985", "type": "synonym" }, { "name": "Rab12", "type": "synonym" } ], "record_id": "P35284-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "P15887-1", "uniprot_ac": "P15887", "uniprot_id": "ARRS_RAT", "refseq_ac": "NP_037155", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "S-arrestin", "type": "recommended" }, { "name": "48 kDa protein", "type": "synonym" }, { "name": "Retinal S-antigen", "type": "synonym" }, { "name": "Rod photoreceptor arrestin", "type": "synonym" }, { "name": "S-AG", "type": "synonym" }, { "name": "S-antigen", "type": "synonym" }, { "name": "S-arrestin", "type": "synonym" }, { "name": "retina and pineal gland (arrestin)", "type": "synonym" }, { "name": "retinal S-antigen", "type": "synonym" }, { "name": "rod photoreceptor arrestin", "type": "synonym" } ], "gene_names": [ { "name": "Sag", "type": "recommended" }, { "name": "SAGMR", "type": "synonym" }, { "name": "SANTI", "type": "synonym" }, { "name": "Sag", "type": "synonym" } ], "record_id": "P15887-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "P01179-1", "uniprot_ac": "P01179", "uniprot_id": "NEU1_RAT", "refseq_ac": "NP_037128", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Oxytocin-neurophysin 1", "type": "recommended" }, { "name": "OT-NPI", "type": "synonym" }, { "name": "Ocytocin", "type": "synonym" }, { "name": "oxcytocin", "type": "synonym" }, { "name": "oxytocin, prepropeptide", "type": "synonym" }, { "name": "oxytocin-neurophysin 1 preproprotein", "type": "synonym" }, { "name": "oxytocin-neurophysin 1", "type": "synonym" }, { "name": "oxytocin/neurophysin (Oxt) gene, complete gene, complete cds", "type": "synonym" }, { "name": "oxytocin/neurophysin 1 prepropeptide", "type": "synonym" }, { "name": "pro-OXT", "type": "synonym" }, { "name": "pro-oxytocin/neurophysin", "type": "synonym" } ], "gene_names": [ { "name": "Oxt", "type": "recommended" }, { "name": "Ot", "type": "synonym" }, { "name": "Oxt", "type": "synonym" } ], "record_id": "P01179-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q05941-1", "uniprot_ac": "Q05941", "uniprot_id": "ACHA7_RAT", "refseq_ac": "NP_036964", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Neuronal acetylcholine receptor subunit alpha-7", "type": "recommended" }, { "name": "C holinergic receptor, nicotinic, alpha polypeptide 7 (neuronal nicotinic acetycholine receptor alpha 7) (bungarotoxin alpha)", "type": "synonym" }, { "name": "Nicotinic acetylcholine receptor subunit alpha-7", "type": "synonym" }, { "name": "bungarotoxin alpha", "type": "synonym" }, { "name": "cholinergic receptor, nicotinic, alpha 7 (neuronal)", "type": "synonym" }, { "name": "cholinergic receptor, nicotinic, alpha polypeptide 7", "type": "synonym" }, { "name": "nAChR7", "type": "synonym" }, { "name": "neuronal acetylcholine receptor subunit alpha-7 precursor", "type": "synonym" }, { "name": "neuronal acetylcholine receptor subunit alpha-7", "type": "synonym" }, { "name": "neuronal nicotinic acetycholine receptor alpha 7", "type": "synonym" }, { "name": "nicotinic acetylcholine receptor subunit alpha-7", "type": "synonym" }, { "name": "nicotinic receptor alpha 7 subunit", "type": "synonym" } ], "gene_names": [ { "name": "Chrna7", "type": "recommended" }, { "name": "Acra7", "type": "synonym" }, { "name": "BTX", "type": "synonym" }, { "name": "Chrna7", "type": "synonym" }, { "name": "NARAD", "type": "synonym" }, { "name": "nAChR7", "type": "synonym" }, { "name": "nAChRa7", "type": "synonym" } ], "record_id": "Q05941-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "P15473-1", "uniprot_ac": "P15473", "uniprot_id": "IBP3_RAT", "refseq_ac": "NP_036720", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Insulin-like growth factor-binding protein 3", "type": "recommended" }, { "name": "IBP-3", "type": "synonym" }, { "name": "IGF-binding protein 3", "type": "synonym" }, { "name": "IGFBP-3", "type": "synonym" }, { "name": "insulin-like growth factor-binding protein (IGF-BP3)", "type": "synonym" }, { "name": "insulin-like growth factor-binding protein 3 precursor", "type": "synonym" } ], "gene_names": [ { "name": "Igfbp3", "type": "recommended" }, { "name": "IGF-BP3", "type": "synonym" }, { "name": "Igfbp-3", "type": "synonym" }, { "name": "Igfbp3", "type": "synonym" } ], "record_id": "P15473-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "P70597-1", "uniprot_ac": "P70597", "uniprot_id": "PE2R1_RAT", "refseq_ac": "NP_001265404", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Prostaglandin E2 receptor EP1 subtype", "type": "recommended" }, { "name": "EP1 prostanoid receptor", "type": "synonym" }, { "name": "PGE receptor EP1 subtype", "type": "synonym" }, { "name": "PGE receptor, EP1 subtype", "type": "synonym" }, { "name": "PGE2 receptor EP1 subtype", "type": "synonym" }, { "name": "Prostanoid EP1 receptor", "type": "synonym" }, { "name": "prostaglandin E receptor 1 (subtype EP1)", "type": "synonym" }, { "name": "prostaglandin E receptor EP1 subtype", "type": "synonym" }, { "name": "prostaglandin E2 receptor EP1 subtype", "type": "synonym" }, { "name": "prostanoid EP1 receptor", "type": "synonym" } ], "gene_names": [ { "name": "Ptger1", "type": "recommended" }, { "name": "EP1", "type": "synonym" }, { "name": "Ptger1", "type": "synonym" } ], "record_id": "P70597-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "O35778-1", "uniprot_ac": "O35778", "uniprot_id": "KLRD1_RAT", "refseq_ac": "NP_036877", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Natural killer cells antigen CD94", "type": "recommended" }, { "name": "CD94 antigen (located within the rat natural killer gene complex)", "type": "synonym" }, { "name": "Killer cell lectin-like receptor subfamily D member 1", "type": "synonym" }, { 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"0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q9VEV2-1", "uniprot_ac": "Q9VEV2", "uniprot_id": "Q9VEV2_DROME", "refseq_ac": "NP_001262637", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Methionine synthase reductase", "type": "recommended" }, { "name": "1.16.1.8", "type": "synonym" }, { "name": "CG14882-PB", "type": "synonym" }, { "name": "uncharacterized protein, isoform B", "type": "synonym" } ], "gene_names": [ { "name": "BcDNA:SD10961", "type": "recommended" }, { "name": "BcDNA:SD10961", "type": "synonym" }, { "name": "CG14882", "type": "synonym" }, { "name": "Dmel\\CG14882", "type": "synonym" }, { "name": "Dmel_CG14882", "type": "synonym" } ], "record_id": "Q9VEV2-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q9VPR5-1", "uniprot_ac": "Q9VPR5", "uniprot_id": "Q9VPR5_DROME", "refseq_ac": "NP_001259837", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Splicing factor 3B subunit 1", "type": "recommended" }, { "name": "CG2807-PB", "type": "synonym" }, { "name": "Pre-mRNA-splicing factor SF3b 155 kDa subunit", "type": "synonym" }, { "name": "Sf3b1-PB", "type": "synonym" }, { "name": "Spliceosome-associated protein 155", "type": "synonym" }, { "name": "splicing factor 3b subunit 1, isoform B", "type": "synonym" } ], "gene_names": [ { "name": "Sf3b1", "type": "recommended" }, { "name": "CG2807", "type": "synonym" }, { "name": "Dmel\\CG2807", "type": "synonym" }, { "name": "Dmel_CG2807", "type": "synonym" }, { "name": "SF3B1", "type": "synonym" }, { "name": "SF3B", "type": "synonym" }, { "name": "Sf3b1", "type": "synonym" }, { "name": "anon-21Cd", "type": "synonym" } ], "record_id": "Q9VPR5-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "P08646-1", "uniprot_ac": "P08646", "uniprot_id": "RAS1_DROME", "refseq_ac": "NP_476699", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Ras-like protein 1", "type": "recommended" }, { "name": "3.6.5.2", "type": "synonym" }, { "name": "CG9375-PA", "type": "synonym" }, { "name": "Dmras85D", "type": "synonym" }, { "name": "Dras1", "type": "synonym" }, { "name": "Ras GTPase", "type": "synonym" }, { "name": "Ras oncogene at 85B", "type": "synonym" }, { "name": "Ras oncogene at 85D", "type": "synonym" }, { "name": "Ras1", "type": "synonym" }, { "name": "Ras85D-PA", "type": "synonym" }, { "name": "enhancer of faf", "type": "synonym" } ], "gene_names": [ { "name": "Ras85D", "type": "recommended" }, { "name": "C-ras1", "type": "synonym" }, { "name": "CG9375", "type": "synonym" }, { "name": "D-Ras1", "type": "synonym" }, { "name": "D-Ras", "type": "synonym" }, { "name": "D-ras-1", "type": "synonym" }, { "name": "D-ras1", "type": "synonym" }, { "name": "DRAS1", "type": "synonym" }, { "name": "DRas85D/Ras", "type": "synonym" }, { "name": "DRas", "type": "synonym" }, { "name": "Dm Ras1", "type": "synonym" }, { "name": "Dmel\\CG9375", "type": "synonym" }, { "name": "Dmras85D", "type": "synonym" }, { "name": "Dras1", "type": "synonym" }, { "name": "Dras85D", "type": "synonym" }, { "name": "Dras", "type": "synonym" }, { "name": "E(faf)", "type": "synonym" }, { "name": "E(sev)3C", "type": "synonym" }, { "name": "EC3-3", "type": "synonym" }, { "name": "EK3-4", "type": 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} ], "protein_names": [ { "name": "Methylcytosine dioxygenase TET", "type": "recommended" }, { "name": "1.14.11.51", "type": "synonym" }, { "name": "1.14.11.80", "type": "synonym" }, { "name": "CG43444-PA", "type": "synonym" }, { "name": "DNA 6mA demethylase", "type": "synonym" }, { "name": "DNA N6-methyl adenine demethylase", "type": "synonym" }, { "name": "TET family protein", "type": "synonym" }, { "name": "Ten-Eleven translocation (TET) family protein, isoform A", "type": "synonym" }, { "name": "Tet-PA", "type": "synonym" } ], "gene_names": [ { "name": "Tet", "type": "recommended" }, { "name": "CG2083", "type": "synonym" }, { "name": "CG43444", "type": "synonym" }, { "name": "CG9973", "type": "synonym" }, { "name": "DMAD", "type": "synonym" }, { "name": "DNA 6mA", "type": "synonym" }, { "name": "Dmel\\CG43444", "type": "synonym" }, { "name": "Idax", "type": "synonym" }, { "name": "TET", "type": "synonym" }, { "name": "Tet", "type": "synonym" }, { "name": "dTET", "type": "synonym" 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"Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG4208-PA", "type": "synonym" }, { "name": "XRCC1-PA", "type": "synonym" }, { "name": "XRCC1", "type": "synonym" } ], "gene_names": [ { "name": "XRCC1", "type": "recommended" }, { "name": "4208", "type": "synonym" }, { "name": "CG4208", "type": "synonym" }, { "name": "Dmel\\CG4208", "type": "synonym" }, { "name": "Dmel_CG4208", "type": "synonym" }, { "name": "XRCC1", "type": "synonym" }, { "name": "Xrcc1", "type": "synonym" } ], "record_id": "Q9Y095-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q9VR26-1", "uniprot_ac": "Q9VR26", "uniprot_id": "Q9VR26_DROME", "refseq_ac": "NP_608857", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG3294-PA", "type": "synonym" }, { "name": "Uncharacterized protein", "type": "synonym" }, { "name": "uncharacterized protein, isoform A", "type": "synonym" } ], "gene_names": [ { "name": "Dmel\\CG3294", "type": "recommended" }, { "name": "CG3294", "type": "synonym" }, { "name": "Dmel\\CG3294", "type": "synonym" }, { "name": "Dmel_CG3294", "type": "synonym" }, { "name": "cg3294", "type": "synonym" } ], "record_id": "Q9VR26-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q9VPQ6-1", "uniprot_ac": "Q9VPQ6", "uniprot_id": "USH_DROME", "refseq_ac": "NP_476780", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Zinc finger protein ush", "type": "recommended" }, { "name": "CG2762-PA", "type": "synonym" }, { "name": "Protein U-shaped", "type": "synonym" }, { "name": "U-shaped", "type": "synonym" }, { "name": "drosophila friend of GATA", "type": "synonym" }, { "name": "u-shaped, isoform A", "type": "synonym" }, { "name": "ush-PA", "type": "synonym" }, { "name": "ushaped", "type": "synonym" } ], "gene_names": [ { "name": "ush", "type": "recommended" }, { "name": "CG2762", "type": "synonym" }, { "name": "Dmel\\CG2762", "type": "synonym" }, { "name": "Dmel_CG2762", "type": "synonym" }, { "name": "FOG", "type": "synonym" }, { "name": "USH", "type": "synonym" }, { "name": "Ush", "type": "synonym" }, { "name": "ZFPM2", "type": "synonym" }, { "name": "dFOG", "type": "synonym" }, { "name": "l(2)19", "type": "synonym" }, { "name": "u-sh", "type": "synonym" }, { "name": "ushaped", "type": "synonym" }, { "name": "ush", "type": "synonym" } ], "record_id": "Q9VPQ6-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "A1Z8U0-1", "uniprot_ac": "A1Z8U0", "uniprot_id": "A1Z8U0_DROME", "refseq_ac": "NP_610735", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Pre-mRNA-processing-splicing factor 8", "type": "recommended" }, { "name": "CG8877-PA", "type": "synonym" }, { "name": "Prp8-PA", "type": "synonym" }, { "name": "Splicing factor Prp8", "type": "synonym" }, { "name": "U5 small nuclear ribonucleoprotein-specific factor", "type": "synonym" }, { "name": "pre-mRNA processing factor 8", "type": "synonym" }, { "name": "prp8", "type": "synonym" } ], "gene_names": [ { "name": "Prp8", "type": "recommended" }, { "name": "A1Z8U0", "type": "synonym" }, { "name": "CG8877", "type": 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"type": "synonym" }, { "name": "profilin 2", "type": "synonym" }, { "name": "suppressor of profilin 2", "type": "synonym" }, { "name": "suppressor of", "type": "synonym" } ], "gene_names": [ { "name": "Arpc1", "type": "recommended" }, { "name": "34Dd", "type": "synonym" }, { "name": "ARC-P41", "type": "synonym" }, { "name": "ARPC1/p41", "type": "synonym" }, { "name": "ARPC1", "type": "synonym" }, { "name": "Arc41", "type": "synonym" }, { "name": "ArcP41", "type": "synonym" }, { "name": "ArpC1", "type": "synonym" }, { "name": "Arpc1", "type": "synonym" }, { "name": "BG:DS00941.7", "type": "synonym" }, { "name": "CG8978", "type": "synonym" }, { "name": "D-sop2", "type": "synonym" }, { "name": "DSop2", "type": "synonym" }, { "name": "Dmel\\CG8978", "type": "synonym" }, { "name": "Dmel_CG8978", "type": "synonym" }, { "name": "Dsop2", "type": "synonym" }, { "name": "Sop2", "type": "synonym" }, { "name": "Spo2", "type": "synonym" }, { "name": "arc41", "type": "synonym" }, { "name": "arpC1", 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"Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "ATP-dependent RNA helicase DDX42", "type": "recommended" }, { "name": "3.6.4.13", "type": "synonym" }, { "name": "CG6418-PB", "type": "synonym" }, { "name": "DEAD box protein 42", "type": "synonym" }, { "name": "uncharacterized protein", "type": "synonym" } ], "gene_names": [ { "name": "DmRH27", "type": "recommended" }, { "name": "CG6418", "type": "synonym" }, { "name": "DmRH27", "type": "synonym" }, { "name": "Dmel\\CG6418", "type": "synonym" }, { "name": "Dmel_CG6418", "type": "synonym" }, { "name": "cg6418", "type": "synonym" } ], "record_id": "Q9VTC1-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "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": 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"glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG44086-PH", "type": "synonym" }, { "name": "Rap GTPase activating protein 1, isoform H", "type": "synonym" }, { "name": "RapGAP1-PH", "type": "synonym" }, { "name": "Rapgap1", "type": "synonym" } ], "gene_names": [ { "name": "RapGAP1", "type": "recommended" }, { "name": "CG13789", "type": "synonym" }, { "name": "CG13790", "type": "synonym" }, { "name": "CG13791", "type": "synonym" }, { "name": "CG33529", "type": "synonym" }, { "name": "CG34374", "type": "synonym" }, { "name": "CG44086", "type": "synonym" }, { "name": "CG6682", "type": "synonym" }, { "name": "Dmel\\CG44086", "type": "synonym" }, { "name": "Dmel_CG44086", "type": "synonym" }, { "name": "FBpp0111515", "type": "synonym" }, { "name": "Q9VM02_DROME", "type": "synonym" }, { "name": "RapGAP1", "type": "synonym" }, { "name": "RapGAP", "type": "synonym" }, { "name": "RapGap1", "type": "synonym" }, { "name": 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"recommended" }, { "name": "13", "type": "synonym" }, { "name": "CG6331", "type": "synonym" }, { "name": "Dmel\\CG6331", "type": "synonym" }, { "name": "Dmel_CG6331", "type": "synonym" }, { "name": "Orct", "type": "synonym" }, { "name": "SLC22A5/13", "type": "synonym" }, { "name": "SLC22A5", "type": "synonym" }, { "name": "orct", "type": "synonym" } ], "record_id": "Q9VCA2-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "P04197-1", "uniprot_ac": "P04197", "uniprot_id": "MYB_DROME", "refseq_ac": "NP_511170", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Myb protein", "type": "recommended" }, { "name": "CG9045-PA", "type": "synonym" }, { "name": "Myb oncogene-like, isoform A", "type": "synonym" }, { 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "A0A0B4KGW2-1", "uniprot_ac": "A0A0B4KGW2", "uniprot_id": "A0A0B4KGW2_DROME", "refseq_ac": "NP_001262693", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG7847-PD", "type": "synonym" }, { "name": "STRIPE", "type": "synonym" }, { "name": "Stripe, isoform D", "type": "synonym" }, { "name": "StripeB", "type": "synonym" }, { "name": "sr-PD", "type": "synonym" }, { "name": "stripe, isoform D", "type": "synonym" }, { "name": "striped", "type": "synonym" } ], "gene_names": [ { "name": "sr", "type": "recommended" }, { "name": "CG7847", "type": "synonym" }, { "name": "Dmel\\CG7847", "type": "synonym" }, { "name": "Dmel_CG7847", "type": "synonym" }, { "name": "SrB", "type": "synonym" }, { "name": "Sr", "type": "synonym" }, { "name": "Stripe", "type": "synonym" }, { "name": "l(3)03999", "type": "synonym" }, { "name": "l(3)06948b", "type": "synonym" }, { "name": "l(3)06948", "type": "synonym" }, { "name": "sr", "type": "synonym" } ], "record_id": "A0A0B4KGW2-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q27607-1", "uniprot_ac": "Q27607", "uniprot_id": "DPOG1_DROME", "refseq_ac": "NP_476821", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "DNA polymerase subunit gamma-1, mitochondrial", "type": "recommended" }, { "name": "2.7.7.7", "type": "synonym" }, { "name": "3'-5' exodeoxyribonuclease", "type": "synonym" }, { "name": "3.1.11.-", "type": "synonym" }, { "name": "CG8987-PA", "type": "synonym" }, { "name": "DNA polymerase gamma 125kD", "type": "synonym" }, { "name": "DNA polymerase gamma subunit 1", "type": "synonym" }, { "name": "DNA polymerase gamma", "type": "synonym" }, { "name": "Mitochondrial DNA polymerase catalytic subunit", "type": "synonym" }, { "name": "PolG1-PA", "type": "synonym" }, { "name": "Protein tamas", "type": "synonym" }, { "name": "alpha subunit", "type": "synonym" }, { "name": "catalytic subunit of the mitochondrial DNA polymerase", "type": "synonym" }, { "name": "catalytic(alpha)subunit", "type": "synonym" }, { "name": "lethal 14 in the black-reduced region", "type": "synonym" }, { "name": "lethal 5 in the black-reduced region", "type": "synonym" }, { "name": "lethal(2)34Dc", "type": "synonym" }, { "name": "mitochondrial gamma polymerase", "type": "synonym" }, { "name": "mtDNA pol-gamma", "type": "synonym" }, { "name": "mtDNA polymerase alpha", "type": "synonym" }, { "name": "tamas", "type": "synonym" } ], "gene_names": [ { "name": "PolG1", "type": "recommended" }, { "name": "34Dc", "type": "synonym" }, { "name": "AAC47658", "type": "synonym" }, { "name": "BG:DS00941.6", "type": "synonym" }, { "name": "CG8987", "type": "synonym" }, { "name": "D-pol gamma-alpha", "type": "synonym" }, { "name": "DNApol-gamma125", "type": "synonym" }, { "name": "DNApol-gamma", "type": "synonym" }, { "name": "DNApolG1", "type": "synonym" }, { "name": "DmPOLgammaA", "type": "synonym" }, { "name": "DmPolgammaA", "type": "synonym" }, { "name": "Dmel\\CG8987", "type": "synonym" }, { "name": "MtPolA", "type": "synonym" }, { "name": "POLGalpha", "type": "synonym" }, { "name": "POLG", "type": "synonym" }, { "name": "Pol gamma", "type": "synonym" }, { "name": "PolG1", "type": "synonym" }, { "name": "PolG", "type": "synonym" }, { "name": "PolgA", "type": "synonym" }, { "name": "Polgamma-alpha", "type": "synonym" }, { "name": "Polgamma", "type": "synonym" }, { "name": "Polg", "type": "synonym" }, { "name": "Tam", "type": "synonym" }, { "name": "anon-34Dc", "type": "synonym" }, { "name": "br5", "type": "synonym" }, { "name": "cDNA 2", "type": "synonym" }, { "name": "l(2)34Dc", "type": "synonym" }, { "name": "l(2)br14", "type": "synonym" }, { "name": "l(2)br5", "type": "synonym" }, { "name": "l(2)brS", "type": "synonym" }, { "name": "mtDNA pol", "type": "synonym" }, { "name": "mtPolA", "type": "synonym" }, { "name": "pol gamma-alpha", "type": "synonym" }, { "name": "pol gamma", "type": "synonym" }, { "name": "polgamma-alpha", "type": "synonym" }, { "name": "polgamma", "type": "synonym" }, { "name": "tam", "type": "synonym" } ], "record_id": "Q27607-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q7K5N4-1", "uniprot_ac": "Q7K5N4", "uniprot_id": "CALYP_DROME", "refseq_ac": "NP_611096", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Ubiquitin carboxyl-terminal hydrolase calypso", "type": "recommended" }, { "name": "3.4.19.12", "type": "synonym" }, { "name": "BAP1 homolog", "type": "synonym" }, { "name": "BRCA1-associated protein 1 homolog", "type": "synonym" }, { "name": "CG8445-PA", "type": "synonym" }, { "name": "Polycomb group protein calypso", "type": "synonym" }, { "name": "caly-PA", "type": "synonym" }, { "name": "calypso, isoform A", "type": "synonym" }, { "name": "calypso", "type": "synonym" }, { "name": "ubiquitin thiolesterase", "type": "synonym" } ], "gene_names": [ { "name": "caly", "type": "recommended" }, { "name": "BAP1", "type": "synonym" }, { "name": "CG8445", "type": "synonym" }, { "name": "Calypso", "type": "synonym" }, { "name": "Dmel\\CG8445", "type": "synonym" }, { "name": "Q7K5N4", "type": "synonym" }, { "name": "bap1", "type": "synonym" }, { "name": "caly", "type": "synonym" } ], "record_id": "Q7K5N4-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q9V727-1", "uniprot_ac": "Q9V727", "uniprot_id": "ASX_DROME", "refseq_ac": "NP_725398", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Polycomb group protein Asx", "type": "recommended" }, { "name": "Asx-PA", "type": "synonym" }, { "name": "CG8787-PA", "type": "synonym" }, { "name": "Protein additional sex combs", "type": "synonym" }, { "name": "additional Sex combs", "type": "synonym" }, { "name": "additional sex combs, isoform A", "type": "synonym" }, { "name": "additional sex comb", "type": "synonym" }, { "name": "additionnal sex comb", "type": "synonym" }, { "name": "xenicid", "type": "synonym" } ], "gene_names": [ { "name": "Asx", "type": "recommended" }, { "name": "ASX", "type": "synonym" }, { "name": "Asx", "type": "synonym" }, { "name": "CG8787", "type": "synonym" }, { "name": "Dmel\\CG8787", "type": "synonym" }, { "name": "Dmel_CG8787", "type": "synonym" }, { "name": "FBgn0261823", "type": "synonym" }, { "name": "xen", "type": "synonym" } ], "record_id": "Q9V727-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "M9MS40-1", "uniprot_ac": "M9MS40", "uniprot_id": "M9MS40_DROME", "refseq_ac": "NP_001188575", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "histone acetyltransferase", "type": "recommended" }, { "name": "2.3.1.48", "type": "synonym" }, { "name": "CBP histone acetyltransferase", "type": "synonym" }, { "name": "CBP/Nejire", "type": "synonym" }, { "name": "CG15319-PC", "type": "synonym" }, { "name": "CREB binding protein", "type": "synonym" }, { "name": "CREB-binding protein", "type": "synonym" }, { "name": "cyclic AMP response element binding protein", "type": "synonym" }, { "name": "drosophila CREB-binding protein", "type": "synonym" }, { "name": "lethal (1) G0112", "type": "synonym" }, { "name": "lethal (1) G0350", "type": "synonym" }, { "name": "lethal (1) G0470", "type": "synonym" }, { "name": "nej-PC", "type": "synonym" }, { "name": "nejire, isoform C", "type": "synonym" }, { "name": "nejire", "type": "synonym" } ], "gene_names": [ { "name": "nej", "type": "recommended" }, { "name": "CBP/p300", "type": "synonym" }, { "name": "CBP_", "type": "synonym" }, { "name": "CBP", "type": "synonym" }, { "name": "CG15319", "type": "synonym" }, { "name": "CG15321", "type": "synonym" }, { "name": "Cbp", "type": "synonym" }, { "name": "Crbp", "type": "synonym" }, { "name": "Dmel\\CG15319", "type": "synonym" }, { "name": "Dmel_CG15319", "type": "synonym" }, { "name": "Nejire", "type": "synonym" }, { "name": "Nej", "type": "synonym" }, { "name": "P300", "type": "synonym" }, { "name": "anon-WO0147981.11", "type": "synonym" }, { "name": "anon-WO03040301.89", "type": "synonym" }, { "name": "cbp", "type": "synonym" }, { "name": "dCBP", "type": "synonym" }, { "name": "dKAT3", "type": "synonym" }, { "name": "dmCBP", "type": "synonym" }, { "name": "l(1)G0112", "type": "synonym" }, { "name": "l(1)G0350", "type": "synonym" }, { "name": "l(1)G0470", "type": "synonym" }, { "name": "nej CBP", "type": "synonym" }, { "name": "nej", "type": "synonym" }, { "name": "p300/CBP", "type": "synonym" }, { "name": "p300", "type": "synonym" } ], "record_id": "M9MS40-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q27415-1", "uniprot_ac": "Q27415", "uniprot_id": "NLP_DROME", "refseq_ac": "NP_001263094", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Nucleoplasmin-like protein", "type": "recommended" }, { "name": "CG7917-PB", "type": "synonym" }, { "name": "Chromatin decondensation protein 1", "type": "synonym" }, { "name": "Nlp-PB", "type": "synonym" }, { "name": "Nucleoplasmin-like", "type": "synonym" }, { "name": "chromatin decondensation protein 1", "type": "synonym" }, { "name": "dNLP", "type": "synonym" }, { "name": "nucleoplasmin, isoform B", "type": "synonym" }, { "name": "nucleoplasmin-1", "type": "synonym" } ], "gene_names": [ { "name": "Nlp", "type": "recommended" }, { "name": "CG7917", "type": "synonym" }, { "name": "CRP1", "type": "synonym" }, { "name": "Crp1", "type": "synonym" }, { "name": "Dmel\\CG7917", "type": "synonym" }, { "name": "Dmel_CG7917", "type": "synonym" }, { "name": "NLP", "type": "synonym" }, { "name": "Nlp", "type": "synonym" }, { "name": "dCAF-4", "type": "synonym" }, { "name": "dNLP-S", "type": "synonym" }, { "name": "dNLP", "type": "synonym" }, { "name": "nlp", "type": "synonym" }, { "name": "p22", "type": "synonym" } ], "record_id": "Q27415-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q9VAC4-1", "uniprot_ac": "Q9VAC4", "uniprot_id": "Q9VAC4_DROME", "refseq_ac": "NP_001097975", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG7911-PB", "type": "synonym" }, { "name": "Nph-PB", "type": "synonym" }, { "name": "Nucleophosmin, isoform A", "type": "synonym" }, { "name": "Nucleophosmin, isoform B", "type": "synonym" }, { "name": "nucleophosmin, isoform B", "type": "synonym" }, { "name": "nucleophosmin", "type": "synonym" }, { "name": "nucleoplasmin", "type": "synonym" } ], "gene_names": [ { "name": "Nph", "type": "recommended" }, { "name": "CG7911", "type": "synonym" }, { "name": "Dmel\\CG7911", "type": "synonym" }, { "name": "Dmel_CG7911", "type": "synonym" }, { "name": "NPH", "type": "synonym" }, { "name": "Nph", "type": "synonym" } ], "record_id": "Q9VAC4-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "P61803-1", "uniprot_ac": "P61803", "uniprot_id": "DAD1_HUMAN", "refseq_ac": "NP_001335", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit DAD1", "type": "recommended" }, { "name": "DAD-1", "type": "synonym" }, { "name": "Defender against cell death 1", "type": "synonym" }, { "name": "Oligosaccharyl transferase subunit DAD1", "type": "synonym" }, { "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit DAD1", "type": "synonym" }, { "name": "oligosaccharyl transferase subunit DAD1", "type": "synonym" }, { "name": "oligosaccharyltransferase 2 homolog", "type": "synonym" }, { "name": "oligosaccharyltransferase subunit 2 (non-catalytic)", "type": "synonym" } ], "gene_names": [ { "name": "DAD1", "type": "recommended" }, { "name": "DAD1", "type": "synonym" }, { "name": "OST2", "type": "synonym" } ], "record_id": "P61803-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q01524-1", "uniprot_ac": "Q01524", "uniprot_id": "DEF6_HUMAN", "refseq_ac": "NP_001917", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "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": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "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": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q92466-1", "uniprot_ac": "Q92466", "uniprot_id": "DDB2_HUMAN", "refseq_ac": "NP_000098", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "DNA damage-binding protein 2", "type": "recommended" }, { "name": "DDB p48 subunit", "type": "synonym" }, { "name": "DDBb", "type": "synonym" }, { "name": "DNA damage-binding protein 2 isoform WT", "type": "synonym" }, { "name": "DNA damage-binding protein 2", "type": "synonym" }, { "name": "Damage-specific DNA-binding protein 2", "type": "synonym" }, { "name": "UV-DDB 2", "type": "synonym" }, { "name": "UV-damaged DNA-binding protein 2", "type": "synonym" }, { "name": "damage-specific DNA binding protein 2, 48kDa", "type": "synonym" }, { "name": "xeroderma pigmentosum group E protein", "type": "synonym" } ], 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"type": "synonym" }, { "name": "ZIF-268", "type": "synonym" }, { "name": "ZIF268", "type": "synonym" }, { "name": "ZNF225", "type": "synonym" } ], "record_id": "P18146-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q92560-1", "uniprot_ac": "Q92560", "uniprot_id": "BAP1_HUMAN", "refseq_ac": "NP_004647", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Ubiquitin carboxyl-terminal hydrolase BAP1", "type": "recommended" }, { "name": "3.4.19.12", "type": "synonym" }, { "name": "BRCA1 associated protein 1", "type": "synonym" }, { "name": "BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)", "type": "synonym" }, { "name": "BRCA1-associated protein 1", "type": "synonym" }, { "name": "Cerebral protein 6", "type": "synonym" }, { "name": "cerebral protein 6", "type": "synonym" }, { "name": "cerebral protein-13", "type": "synonym" }, { "name": "ubiquitin carboxy-terminal hydrolase L2", "type": "synonym" }, { "name": "ubiquitin carboxyl-terminal hydrolase BAP1 isoform 1", "type": "synonym" } ], "gene_names": [ { "name": "BAP1", "type": "recommended" }, { "name": "BAP1", "type": "synonym" }, { "name": "HUCEP-13", "type": "synonym" }, { "name": "KIAA0272", "type": "synonym" }, { "name": "KURIS", "type": "synonym" }, { "name": "TPDS1", "type": "synonym" }, { "name": "UBM2", "type": "synonym" }, { "name": "UCHL2", "type": "synonym" }, { "name": "UVM2", "type": "synonym" }, { "name": "hucep-6", "type": "synonym" } ], "record_id": "Q92560-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "P10244-1", "uniprot_ac": "P10244", "uniprot_id": "MYBB_HUMAN", "refseq_ac": "NP_001265539", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Myb-related protein B", "type": "recommended" }, { "name": "B-Myb", "type": "synonym" }, { "name": "MYB-related protein B", "type": "synonym" }, { "name": "Myb-like protein 2", "type": "synonym" }, { "name": "myb-like protein 2", "type": "synonym" }, { "name": "myb-related protein B isoform 2", "type": "synonym" }, { "name": "v-myb avian myeloblastosis viral oncogene homolog-like 2", "type": "synonym" }, { "name": "v-myb myeloblastosis viral oncogene homolog-like 2", "type": "synonym" } ], "gene_names": [ { "name": "MYBL2", "type": "recommended" }, { "name": "B-MYB", "type": "synonym" }, { "name": "BMYB", "type": "synonym" }, { "name": "MYBL2", "type": "synonym" } ], "record_id": "P10244-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { 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"polymerase (DNA directed), gamma", "type": "synonym" }, { "name": "polymerase (DNA) gamma, catalytic subunit", "type": "synonym" } ], "gene_names": [ { "name": "POLG", "type": "recommended" }, { "name": "MDP1", "type": "synonym" }, { "name": "MIRAS", "type": "synonym" }, { "name": "MTDPS4A", "type": "synonym" }, { "name": "MTDPS4B", "type": "synonym" }, { "name": "PEO", "type": "synonym" }, { "name": "POLG1", "type": "synonym" }, { "name": "POLGA", "type": "synonym" }, { "name": "POLG", "type": "synonym" }, { "name": "PolG-alpha", "type": "synonym" }, { "name": "SANDO", "type": "synonym" }, { "name": "SCAE", "type": "synonym" } ], "record_id": "P54098-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "P06748-1", "uniprot_ac": "P06748", "uniprot_id": "NPM_HUMAN", "refseq_ac": "NP_001032827", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Nucleophosmin", "type": "recommended" }, { "name": "NPM", "type": "synonym" }, { "name": "Nucleolar phosphoprotein B23", "type": "synonym" }, { "name": "Nucleolar protein NO38", "type": "synonym" }, { "name": "Numatrin", "type": "synonym" }, { "name": "nucleolar protein NO38", "type": "synonym" }, { "name": "nucleophosmin (nucleolar phosphoprotein B23, numatrin)", "type": "synonym" }, { "name": "nucleophosmin isoform 3", "type": "synonym" }, { "name": "nucleophosmin/nucleoplasmin family, member 1", "type": "synonym" }, { "name": "testicular tissue protein Li 128", "type": "synonym" } ], "gene_names": [ { "name": "NPM1", "type": "recommended" }, { "name": "B23", "type": "synonym" }, { "name": "NPM1", "type": "synonym" }, { "name": "NPM", "type": "synonym" } ], "record_id": "P06748-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": 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"name": "mH2A1", "type": "synonym" }, { "name": "medulloblastoma antigen MU-MB-50.205", "type": "synonym" } ], "gene_names": [ { "name": "MACROH2A1", "type": "recommended" }, { "name": "H2A.y", "type": "synonym" }, { "name": "H2A/y", "type": "synonym" }, { "name": "H2AF12M", "type": "synonym" }, { "name": "H2AFY", "type": "synonym" }, { "name": "MACROH2A1.1", "type": "synonym" }, { "name": "MACROH2A1", "type": "synonym" }, { "name": "mH2A1", "type": "synonym" }, { "name": "macroH2A1.2", "type": "synonym" } ], "record_id": "O75367-2", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q8IVG5-1", "uniprot_ac": "Q8IVG5", "uniprot_id": "SAM9L_HUMAN", "refseq_ac": "NP_001290425", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Sterile alpha 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"ATG7", "type": "recommended" }, { "name": "APG7-LIKE", "type": "synonym" }, { "name": "APG7L", "type": "synonym" }, { "name": "ATG7", "type": "synonym" }, { "name": "GSA7", "type": "synonym" }, { "name": "SCAR31", "type": "synonym" } ], "record_id": "O95352-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q01130-1", "uniprot_ac": "Q01130", "uniprot_id": "SRSF2_HUMAN", "refseq_ac": "NP_001182356", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Serine/arginine-rich splicing factor 2", "type": "recommended" }, { "name": "Protein PR264", "type": "synonym" }, { "name": "SC-35", "type": "synonym" }, { "name": "SR splicing factor 2", "type": "synonym" }, { "name": "Splicing component, 35 kDa", "type": "synonym" }, { "name": "Splicing factor SC35", "type": "synonym" }, { "name": "Splicing factor, arginine/serine-rich 2", "type": "synonym" }, { "name": "serine/arginine-rich splicing factor 2", "type": "synonym" }, { "name": "splicing component, 35 kDa", "type": "synonym" }, { "name": "splicing factor SC35", "type": "synonym" }, { "name": "splicing factor, arginine/serine-rich 2", "type": "synonym" } ], "gene_names": [ { "name": "SRSF2", "type": "recommended" }, { "name": "PR264", "type": "synonym" }, { "name": "SC-35", "type": "synonym" }, { "name": "SC35", "type": "synonym" }, { "name": "SFRS2A", "type": "synonym" }, { "name": "SFRS2", "type": "synonym" }, { "name": "SRSF2", "type": "synonym" }, { "name": "SRp30b", "type": "synonym" } ], "record_id": "Q01130-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q92793-1", "uniprot_ac": "Q92793", "uniprot_id": "CBP_HUMAN", "refseq_ac": "NP_001073315", "glycoprotein": 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"name": "Zinc finger protein multitype 2", "type": "synonym" }, { "name": "friend of GATA 2", "type": "synonym" }, { "name": "friend of GATA protein 2", "type": "synonym" }, { "name": "hFOG-2", "type": "synonym" }, { "name": "transcription factor GATA4, modulator of", "type": "synonym" }, { "name": "zinc finger protein 89B", "type": "synonym" }, { "name": "zinc finger protein ZFPM2 isoform 1", "type": "synonym" }, { "name": "zinc finger protein ZFPM2", "type": "synonym" }, { "name": "zinc finger protein, multitype 2", "type": "synonym" } ], "gene_names": [ { "name": "ZFPM2", "type": "recommended" }, { "name": "DIH3", "type": "synonym" }, { "name": "FOG2", "type": "synonym" }, { "name": "PRDM19", "type": "synonym" }, { "name": "SRXY9", "type": "synonym" }, { "name": "ZC2HC11B", "type": "synonym" }, { "name": "ZFPM2", "type": "synonym" }, { "name": "ZNF89B", "type": "synonym" }, { "name": "hFOG-2", "type": "synonym" } ], "record_id": "Q8WW38-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "P18887-1", "uniprot_ac": "P18887", "uniprot_id": "XRCC1_HUMAN", "refseq_ac": "NP_006288", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "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": "RCC", "type": "synonym" }, { "name": "SCAR26", "type": "synonym" }, { "name": "XRCC1", "type": "synonym" } ], "record_id": "P18887-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": 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"id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "P41212-1", "uniprot_ac": "P41212", "uniprot_id": "ETV6_HUMAN", "refseq_ac": "NP_001978", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Transcription factor ETV6", "type": "recommended" }, { "name": "ETS translocation variant 6", "type": "synonym" }, { "name": "ETS-related protein Tel1", "type": "synonym" }, { "name": "ETV6-RUNX1 fusion protein", "type": "synonym" }, { "name": "TEL1 oncogene", "type": "synonym" }, { "name": "Tel", "type": "synonym" }, { "name": "ets variant gene 6 (TEL oncogene)", "type": "synonym" }, { "name": "transcription factor ETV6 isoform 1", "type": "synonym" }, { "name": "transcription factor ETV6", "type": "synonym" } ], "gene_names": [ { "name": "ETV6", "type": "recommended" }, { "name": "ETV6", "type": "synonym" }, { "name": "TEL/ABL", "type": "synonym" }, { "name": "TEL1", "type": "synonym" }, { "name": "TEL", "type": "synonym" }, { "name": "THC5", "type": "synonym" } ], "record_id": "P41212-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "P18074-1", "uniprot_ac": "P18074", "uniprot_id": "ERCC2_HUMAN", "refseq_ac": "NP_000391", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "General transcription and DNA repair factor IIH helicase subunit XPD", "type": "recommended" }, { "name": "5.6.2.3", "type": "synonym" }, { "name": "BTF2 p80", "type": "synonym" }, { "name": "Basic transcription factor 2 80 kDa subunit", "type": "synonym" }, { "name": "CXPD", "type": "synonym" }, { "name": "DNA 5'-3' helicase XPD", "type": "synonym" }, { "name": "DNA excision repair protein ERCC-2", "type": "synonym" }, { "name": "DNA repair protein complementing XP-D cells", "type": "synonym" }, { "name": "TFIIH 80 kDa subunit", "type": "synonym" }, { "name": "TFIIH basal transcription factor complex 80 kDa subunit", "type": "synonym" }, { "name": "TFIIH basal transcription factor complex helicase XPD subunit", "type": "synonym" }, { "name": "TFIIH p80", "type": "synonym" }, { "name": "TFIIH subunit XPD", "type": "synonym" }, { "name": "Xeroderma pigmentosum group D-complementing protein", "type": "synonym" }, { "name": "basic transcription factor 2 80 kDa subunit", "type": "synonym" }, { "name": "excision repair cross-complementation group 2", "type": "synonym" }, { "name": "excision repair cross-complementing rodent repair deficiency, complementation group 2", "type": "synonym" }, { "name": "general transcription and DNA repair factor IIH helicase subunit XPD isoform 1", "type": "synonym" }, { "name": "general transcription and DNA repair factor IIH helicase subunit XPD", "type": "synonym" }, { "name": "xeroderma pigmentosum complementary group D", "type": "synonym" }, { "name": "xeroderma pigmentosum group D-complementing protein", "type": "synonym" } ], "gene_names": [ { "name": "ERCC2", "type": "recommended" }, { "name": "COFS2", "type": "synonym" }, { "name": "CXPD", "type": "synonym" }, { "name": "EM9", "type": "synonym" }, { "name": "ERCC2", "type": "synonym" }, { "name": "TFIIH", "type": "synonym" }, { "name": "TTD1", "type": "synonym" }, { "name": "TTD", "type": "synonym" }, { "name": "XPDC", "type": "synonym" }, { "name": "XPD", "type": "synonym" } ], "record_id": "P18074-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "uniprot_canonical_ac": "Q9Y6K1-1", "uniprot_ac": "Q9Y6K1", "uniprot_id": "DNM3A_HUMAN", "refseq_ac": "NP_001307821", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "DNA (cytosine-5)-methyltransferase 3A", "type": "recommended" }, { "name": "2.1.1.-", "type": "synonym" }, { "name": "2.1.1.37", "type": "synonym" }, { "name": "Cysteine methyltransferase DNMT3A", "type": "synonym" }, { "name": "DNA (cytosine-5)-methyltransferase 3A isoform c", "type": "synonym" }, { "name": "DNA (cytosine-5)-methyltransferase 3A", "type": "synonym" }, { "name": "DNA (cytosine-5-)-methyltransferase 3 alpha", "type": "synonym" }, { "name": "DNA MTase HsaIIIA", "type": "synonym" }, { "name": "DNA cytosine methyltransferase 3A2", "type": "synonym" }, { "name": "DNA methyltransferase HsaIIIA", "type": "synonym" }, { "name": "Dnmt3a", "type": "synonym" }, { "name": "M.HsaIIIA", "type": "synonym" }, { "name": "cysteine methyltransferase DNMT3A", "type": "synonym" } ], "gene_names": [ { "name": "DNMT3A", "type": "recommended" }, { "name": "DNMT3A2", "type": "synonym" }, { "name": "DNMT3A", "type": "synonym" }, { "name": "HESJAS", "type": "synonym" }, { "name": "M.HsaIIIA", "type": "synonym" }, { "name": "TBRS", "type": "synonym" } ], "record_id": "Q9Y6K1-1", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0050908" }