{ "disease_id": "DOID:0050671", "recommended_name": { "id": "DOID:0050671", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050671", "name": "female breast cancer", "description": "A breast cancer that develops from breast tissue in females." }, "synonyms": [], "children": [], "id_list": [ "DOID:0050671" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0050671", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050671", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "A0A8M2BC68-1", "uniprot_ac": "A0A8M2BC68", "uniprot_id": "A0A8M2BC68_DANRE", "refseq_ac": "XP_073806015", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Serine/threonine-protein kinase Chk2 isoform X1", "type": "synonym" }, { "name": "serine/threonine-protein kinase Chk2 isoform X1", 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{ "id": "0050671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050671" } ] }, { "uniprot_canonical_ac": "A0A8M3AXQ6-1", "uniprot_ac": "A0A8M3AXQ6", "uniprot_id": "A0A8M3AXQ6_DANRE", "refseq_ac": "XP_009297388", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "non-specific serine/threonine protein kinase", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "microtubule-associated serine/threonine-protein kinase 1", "type": "synonym" } ], "gene_names": [ { "name": "mast1b", "type": "recommended" }, { "name": "mast1b", "type": "synonym" } ], "record_id": "A0A8M3AXQ6-1", "evidence": [ { "id": "0050671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050671" } ] }, { "uniprot_canonical_ac": "A0A8M3AKH8-1", "uniprot_ac": "A0A8M3AKH8", "uniprot_id": "A0A8M3AKH8_DANRE", "refseq_ac": "XP_009292706", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "non-specific serine/threonine protein kinase", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "microtubule-associated serine/threonine-protein kinase 1 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "mast1a", "type": "recommended" }, { "name": "mast1a", "type": "synonym" } ], "record_id": "A0A8M3AKH8-1", "evidence": [ { "id": "0050671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050671" } ] }, { "uniprot_canonical_ac": "A0A8M9PUU2-1", "uniprot_ac": "A0A8M9PUU2", "uniprot_id": "A0A8M9PUU2_DANRE", "refseq_ac": "XP_021326126", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Fanconi anemia group I protein isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "fanci", "type": "recommended" }, { "name": "fanci", "type": "synonym" }, { "name": "fc21c10", "type": "synonym" }, { "name": "wu:fc21c10", "type": "synonym" }, { "name": "zgc:152941", "type": "synonym" } ], "record_id": "A0A8M9PUU2-1", "evidence": [ { "id": "0050671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050671" } ] }, { "uniprot_canonical_ac": "F1Q7Z9-1", "uniprot_ac": "F1Q7Z9", "uniprot_id": "F1Q7Z9_DANRE", "refseq_ac": "NP_001035337", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "DNA polymerase eta", "type": "recommended" }, { "name": "2.7.7.7", "type": "synonym" }, { "name": "DNA polymerase eta", "type": "synonym" }, { "name": "RAD30 homolog A", "type": "synonym" } ], "gene_names": [ { "name": "polh", "type": "recommended" }, { "name": "fc50a12", "type": "synonym" }, { "name": "polh", "type": "synonym" }, { "name": "wu:fc50a12", "type": "synonym" }, { "name": "zgc:136881", "type": "synonym" }, { "name": "zgc:152642", "type": "synonym" } ], "record_id": "F1Q7Z9-1", "evidence": [ { "id": "0050671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050671" } ] }, { "uniprot_canonical_ac": "P0C928-1", "uniprot_ac": "P0C928", "uniprot_id": "RTEL1_DANRE", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Regulator of telomere elongation helicase 1", "type": "recommended" }, { "name": "5.6.2.-", "type": "synonym" } ], "gene_names": [ { "name": "rtel1", "type": "recommended" }, { "name": "RTEL1", "type": "synonym" }, { "name": "zgc:113114", "type": "synonym" } ], "record_id": "P0C928-1", "evidence": [ { "id": "0050671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050671" } ] }, { "uniprot_canonical_ac": "A0A8M9P7S0-1", "uniprot_ac": "A0A8M9P7S0", "uniprot_id": "A0A8M9P7S0_DANRE", "refseq_ac": "XP_021326787", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Partner and localizer of BRCA2", "type": "synonym" }, { "name": "partner and localizer of BRCA2", "type": "synonym" } ], "gene_names": [ { "name": "palb2", "type": "recommended" }, { "name": "palb2", "type": "synonym" } ], "record_id": "A0A8M9P7S0-1", "evidence": [ { "id": "0050671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050671" } ] }, { "uniprot_canonical_ac": "Q9Z265-1", "uniprot_ac": "Q9Z265", "uniprot_id": "CHK2_MOUSE", "refseq_ac": "NP_057890", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Serine/threonine-protein kinase Chk2", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "CHK2 checkpoint homolog", "type": "synonym" }, { "name": "Cds1 homolog", "type": "synonym" }, { "name": "Checkpoint kinase 2", "type": "synonym" }, { "name": "Rad53 homolog", "type": "synonym" }, { "name": "serine/threonine-protein kinase Chk2 isoform 1", "type": "synonym" }, { "name": "serine/threonine-protein kinase Chk2", "type": "synonym" } ], "gene_names": [ { "name": "Chek2", "type": "recommended" }, { "name": "CHK2", "type": "synonym" }, { "name": "Cds1", "type": "synonym" }, { "name": "Chek2", "type": "synonym" }, { "name": "Chk2", "type": "synonym" }, { "name": "HUCDS1", "type": "synonym" }, { "name": "Rad53", "type": "synonym" } ], "record_id": "Q9Z265-1", "evidence": [ { "id": "0050671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050671" } ] }, { "uniprot_canonical_ac": "Q61164-1", "uniprot_ac": "Q61164", "uniprot_id": "CTCF_MOUSE", "refseq_ac": "NP_851839", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Transcriptional repressor CTCF", "type": "recommended" }, { "name": "11-zinc finger protein", "type": "synonym" }, { "name": "CCCTC-binding factor", "type": "synonym" }, { "name": "CTCFL paralog", "type": "synonym" }, { "name": "transcriptional repressor CTCF isoform 1", "type": "synonym" }, { "name": "transcriptional repressor CTCF", "type": "synonym" } ], "gene_names": [ { "name": "Ctcf", "type": "recommended" }, { "name": "Ctcf", "type": "synonym" } ], "record_id": "Q61164-1", "evidence": [ { "id": "0050671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050671" } ] }, { "uniprot_canonical_ac": "Q62388-1", "uniprot_ac": "Q62388", "uniprot_id": "ATM_MOUSE", "refseq_ac": "NP_031525", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Serine-protein kinase ATM", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "A-T mutated homolog", "type": "synonym" }, { "name": "Ataxia telangiectasia mutated homolog", "type": "synonym" }, { "name": "ataxia telangiectasia gene mutated in human beings", "type": "synonym" }, { "name": "ataxia telangiectasia mutated homolog", "type": "synonym" }, { "name": "serine-protein kinase ATM", "type": "synonym" } ], "gene_names": [ { "name": "Atm", "type": "recommended" }, { "name": "Atm", "type": "synonym" }, { "name": "C030026E19Rik", "type": "synonym" } ], "record_id": "Q62388-1", "evidence": [ { "id": "0050671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050671" } ] }, { "uniprot_canonical_ac": "Q9R1L5-1", "uniprot_ac": "Q9R1L5", "uniprot_id": "MAST1_MOUSE", "refseq_ac": "NP_064329", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Microtubule-associated serine/threonine-protein kinase 1", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "Syntrophin-associated serine/threonine-protein kinase", "type": "synonym" }, { "name": "microtubule-associated serine/threonine-protein kinase 1", "type": "synonym" }, { "name": "syntrophin associated serine/threonine kinase", "type": "synonym" }, { "name": "syntrophin-associated serine-threonine protein kinase", "type": "synonym" } ], "gene_names": [ { "name": "Mast1", "type": "recommended" }, { "name": "9430008B02Rik", "type": "synonym" }, { "name": "Kiaa0973", "type": "synonym" }, { "name": "Mast1", "type": "synonym" }, { "name": "SAST170", "type": "synonym" }, { "name": "SAST", "type": "synonym" }, { "name": "Sast", "type": "synonym" } ], "record_id": "Q9R1L5-1", "evidence": [ { "id": "0050671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050671" } ] }, { "uniprot_canonical_ac": "Q8K368-1", "uniprot_ac": "Q8K368", "uniprot_id": "FANCI_MOUSE", "refseq_ac": "NP_666058", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Fanconi anemia group I protein homolog", "type": "recommended" }, { "name": "Fanconi anemia group I protein homolog", "type": "synonym" }, { "name": "Protein FACI", "type": "synonym" } ], "gene_names": [ { "name": "Fanci", "type": "recommended" }, { "name": "Fanci", "type": "synonym" } ], "record_id": "Q8K368-1", "evidence": [ { "id": "0050671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050671" } ] }, { "uniprot_canonical_ac": "Q9JJN0-1", "uniprot_ac": "Q9JJN0", "uniprot_id": "POLH_MOUSE", "refseq_ac": "NP_109640", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "DNA polymerase eta", "type": "recommended" }, { "name": "2.7.7.7", "type": "synonym" }, { "name": "DNA polymerase eta isoform 1", "type": "synonym" }, { "name": "DNA-directed DNA polymerase eta", "type": "synonym" }, { "name": "RAD30 homolog A", "type": "synonym" }, { "name": "Xeroderma pigmentosum variant type protein homolog", "type": "synonym" }, { "name": "xeroderma pigmentosum variant type protein homolog", "type": "synonym" } ], "gene_names": [ { "name": "Polh", "type": "recommended" }, { "name": "Polh", "type": "synonym" 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"recommended" }, { "name": "Kiaa1088", "type": "synonym" }, { "name": "Rtel1", "type": "synonym" }, { "name": "Rtel", "type": "synonym" } ], "record_id": "Q0VGM9-1", "evidence": [ { "id": "0050671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050671" } ] }, { "uniprot_canonical_ac": "Q3U0P1-1", "uniprot_ac": "Q3U0P1", "uniprot_id": "PALB2_MOUSE", "refseq_ac": "NP_001074707", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Partner and localizer of BRCA2", "type": "recommended" }, { "name": "partner and localizer of BRCA2 isoform 1", "type": "synonym" } ], "gene_names": [ { "name": "Palb2", "type": "recommended" }, { "name": "Palb2", "type": "synonym" } ], "record_id": "Q3U0P1-1", "evidence": [ { "id": "0050671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050671" } ] }, { 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"species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "DNA polymerase eta", "type": "recommended" }, { "name": "2.7.7.7", "type": "synonym" }, { "name": "DNA-directed DNA polymerase eta", "type": "synonym" }, { "name": "Radiation-sensitive protein 30", "type": "synonym" } ], "gene_names": [ { "name": "RAD30", "type": "recommended" }, { "name": "DBH1", "type": "synonym" }, { "name": "RAD30", "type": "synonym" } ], "record_id": "Q04049-1", "evidence": [ { "id": "0050671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050671" } ] }, { "uniprot_canonical_ac": "Q9R1D1-1", "uniprot_ac": "Q9R1D1", "uniprot_id": "CTCF_RAT", "refseq_ac": "NP_114012", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Transcriptional repressor CTCF", "type": "recommended" }, { "name": "11-zinc finger protein", "type": "synonym" }, { "name": "CCCTC-binding factor (zinc finger protein)", "type": "synonym" }, { "name": "CCCTC-binding factor", "type": "synonym" }, { "name": "CTCFL paralog", "type": "synonym" }, { "name": "transcriptional repressor CTCF", "type": "synonym" } ], "gene_names": [ { "name": "Ctcf", "type": "recommended" }, { "name": "Ctcf", "type": "synonym" } ], "record_id": "Q9R1D1-1", "evidence": [ { "id": "0050671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050671" } ] }, { "uniprot_canonical_ac": "A0ABK0LQX5-1", "uniprot_ac": "A0ABK0LQX5", "uniprot_id": "A0ABK0LQX5_RAT", "refseq_ac": "XP_038936996", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Serine-protein kinase ATM", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "serine-protein kinase ATM isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "Atm", "type": "recommended" }, { "name": "Atm", "type": "synonym" } ], "record_id": "A0ABK0LQX5-1", "evidence": [ { "id": "0050671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050671" } ] }, { "uniprot_canonical_ac": "Q810W7-1", "uniprot_ac": "Q810W7", "uniprot_id": "MAST1_RAT", "refseq_ac": "NP_851603", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Microtubule-associated serine/threonine-protein kinase 1", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "Syntrophin-associated serine/threonine-protein kinase", "type": "synonym" }, { "name": "microtubule-associated serine/threonine-protein kinase 1", "type": "synonym" }, { "name": "syntrophin associated serine/threonine kinase", "type": "synonym" }, { "name": "syntrophin-associated serine/threonine-protein kinase", "type": "synonym" } ], "gene_names": [ { "name": "Mast1", "type": "recommended" }, { "name": "MAST1", "type": "synonym" }, { "name": "Mast1", "type": "synonym" }, { "name": "Sast", "type": "synonym" } ], "record_id": "Q810W7-1", "evidence": [ { "id": "0050671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050671" } ] }, { "uniprot_canonical_ac": "D3Z840-1", "uniprot_ac": "D3Z840", "uniprot_id": "D3Z840_RAT", "refseq_ac": "NP_001414599", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "FA complementation group I", "type": "synonym" }, { "name": "Fanconi anemia group I protein", "type": "synonym" }, { "name": "Fanconi anemia, complementation group I", "type": "synonym" } ], "gene_names": [ { "name": "Fanci", "type": "recommended" }, { "name": "Fanci", "type": "synonym" } ], "record_id": "D3Z840-1", "evidence": [ { "id": "0050671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050671" } ] }, { "uniprot_canonical_ac": "D4ADZ0-1", "uniprot_ac": "D4ADZ0", "uniprot_id": "D4ADZ0_RAT", "refseq_ac": "NP_001101674", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "DNA polymerase eta", "type": "recommended" }, { "name": "2.7.7.7", "type": "synonym" }, { "name": "DNA polymerase eta", "type": "synonym" }, { "name": "DNA-directed DNA polymerase eta", "type": "synonym" }, { "name": "RAD30 homolog A", "type": "synonym" }, { "name": "polymerase (DNA directed), eta (RAD 30 related)", "type": "synonym" }, { "name": "polymerase (DNA) eta", "type": "synonym" } ], "gene_names": [ { "name": "Polh", "type": "recommended" }, { "name": "Polh", "type": "synonym" } ], "record_id": "D4ADZ0-1", "evidence": [ { "id": "0050671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050671" } ] }, { "uniprot_canonical_ac": "Q5RJZ1-1", "uniprot_ac": "Q5RJZ1", "uniprot_id": "RTEL1_RAT", "refseq_ac": "NP_001178786", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Regulator of telomere elongation helicase 1", "type": "recommended" }, { "name": "5.6.2.-", "type": "synonym" }, { "name": "helicase-like protein NHL", "type": "synonym" }, { "name": "regulator of telomere elongation helicase 1 isoform 1", "type": "synonym" } ], "gene_names": [ { "name": "Rtel1", "type": "recommended" }, { "name": "RGD1306721", "type": "synonym" }, { "name": "RTEL1", "type": "synonym" }, { "name": "Rtel1", "type": "synonym" } ], "record_id": "Q5RJZ1-1", "evidence": [ { "id": "0050671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050671" } ] }, { "uniprot_canonical_ac": "D3ZM14-1", "uniprot_ac": "D3ZM14", "uniprot_id": "D3ZM14_RAT", "refseq_ac": "NP_001178532", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Partner and localizer of BRCA2", "type": "synonym" }, { "name": "partner and localizer of BRCA2", "type": "synonym" } ], "gene_names": [ { "name": "Palb2", "type": "recommended" }, { "name": "Palb2", "type": "synonym" }, { "name": "RGD1304759", "type": "synonym" } ], "record_id": "D3ZM14-1", "evidence": [ { "id": "0050671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050671" } ] }, { "uniprot_canonical_ac": "O61267-1", "uniprot_ac": "O61267", "uniprot_id": "LOK_DROME", "refseq_ac": "NP_477218", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Ovarian-specific serine/threonine-protein kinase Lok", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "CG10895-PB", "type": "synonym" }, { "name": "Protein loki", "type": "synonym" }, { "name": "checkpoint kinase 2", "type": "synonym" }, { "name": "dMNK", "type": "synonym" }, { "name": "drosophila maternal nuclear kinase", "type": "synonym" }, { "name": "localized ovarian kinase", "type": "synonym" }, { "name": "lok-PB", "type": "synonym" }, { "name": "loki, isoform B", "type": "synonym" } ], "gene_names": [ { "name": "lok", "type": "recommended" }, { "name": "10895", "type": "synonym" }, { "name": "38B.4", "type": "synonym" }, { "name": "CG10895", "type": "synonym" }, { "name": "CHK-2", "type": "synonym" }, { "name": "CHK2", "type": "synonym" }, { "name": "Chk2", "type": "synonym" }, { "name": "DChk2", "type": "synonym" }, { "name": "DmCHk2", "type": "synonym" }, { "name": "DmChk2", "type": "synonym" }, { "name": "Dmchk2", "type": "synonym" }, { "name": "Dmel\\CG10895", "type": "synonym" }, { "name": "Dmel_CG10895", "type": "synonym" }, { "name": "Dmnk-L", "type": "synonym" }, { "name": "Dmnk-S", "type": "synonym" }, { "name": "Dmnk/DChk2", "type": "synonym" }, { "name": "Dmnk", "type": "synonym" }, { "name": "LOKI/CHK2", "type": "synonym" }, { "name": "Loki", "type": "synonym" }, { "name": "Lok", "type": "synonym" }, { "name": "MNK", "type": "synonym" }, { "name": "Mnk", "type": "synonym" }, { "name": "chk-2", "type": "synonym" }, { "name": "chk2/lok", "type": "synonym" }, { "name": "chk2", "type": "synonym" }, { "name": "chk", "type": "synonym" }, { "name": "loki", "type": "synonym" }, { "name": "lok", "type": "synonym" }, { "name": "mnk", "type": "synonym" } ], "record_id": "O61267-1", "evidence": [ { "id": "0050671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050671" } ] }, { "uniprot_canonical_ac": "Q9VS55-1", "uniprot_ac": "Q9VS55", "uniprot_id": "Q9VS55_DROME", "refseq_ac": "NP_648109", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CCCTC-binding factor", "type": "synonym" }, { "name": "CG8591-PA", "type": "synonym" }, { "name": "CTCF-PA", "type": "synonym" }, { "name": "CTCF", "type": "synonym" } ], "gene_names": [ { "name": "CTCF", "type": "recommended" }, { "name": "CG8591", "type": "synonym" }, { "name": "CTCF", "type": "synonym" }, { "name": "Dmel\\CG8591", "type": "synonym" }, { "name": "Dmel_CG8591", "type": "synonym" }, { "name": "dCTCF", "type": "synonym" } ], "record_id": "Q9VS55-1", "evidence": [ { "id": "0050671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050671" } ] }, { "uniprot_canonical_ac": "Q5EAK6-1", "uniprot_ac": "Q5EAK6", "uniprot_id": "ATM_DROME", "refseq_ac": "NP_001036712", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Serine/threonine-protein kinase ATM", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "A-T mutated", "type": "synonym" }, { "name": "CG6535-PB", "type": "synonym" }, { "name": "Telomere fusion protein", "type": "synonym" }, { "name": "ataxia telangectasia mutated", "type": "synonym" }, { "name": "ataxia telangiectasia mutated", "type": "synonym" }, { "name": "ataxia telengiesctasia mutated", "type": "synonym" }, { "name": "ataxia-telangiectasia mutated", "type": "synonym" }, { "name": "drosophila ATM", "type": "synonym" }, { "name": "tefu-PB", "type": "synonym" }, { "name": "telomere fusion", "type": "synonym" } ], "gene_names": [ { "name": "tefu", "type": "recommended" }, { "name": "ATM", "type": "synonym" }, { "name": "Atm", "type": "synonym" }, { "name": "CG6535", "type": "synonym" }, { "name": "Dmel\\CG6535", "type": "synonym" }, { "name": "Tefu", "type": "synonym" }, { "name": "atm/tefu", "type": "synonym" }, { "name": "atm", "type": "synonym" }, { "name": "dATM", "type": "synonym" }, { "name": "tefu/atm", "type": "synonym" }, { "name": "tefu", "type": "synonym" }, { "name": "tef", "type": "synonym" } ], "record_id": "Q5EAK6-1", "evidence": [ { "id": "0050671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050671" } ] }, { "uniprot_canonical_ac": "Q9VUQ9-1", "uniprot_ac": "Q9VUQ9", "uniprot_id": "Q9VUQ9_DROME", "refseq_ac": "NP_001261884", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "non-specific serine/threonine protein kinase", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "CG6498-PB", "type": "synonym" }, { "name": "dop-PB", "type": "synonym" }, { "name": "drop out, isoform B", "type": "synonym" } ], "gene_names": [ { "name": "dop", "type": "recommended" }, { "name": "CG6498", "type": "synonym" }, { "name": "Dmel\\CG6498", "type": "synonym" }, { "name": "Dmel_CG6498", "type": "synonym" }, { "name": "MAST 205", "type": "synonym" }, { "name": "MAST205", "type": "synonym" }, { "name": "dop", "type": "synonym" } ], "record_id": "Q9VUQ9-1", "evidence": [ { "id": "0050671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050671" } ] }, { "uniprot_canonical_ac": "A1Z7L1-1", "uniprot_ac": "A1Z7L1", "uniprot_id": "FANCI_DROME", "refseq_ac": "NP_610429", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Fanconi anemia group I protein homolog", "type": "recommended" }, { "name": "CG13745-PA", "type": "synonym" }, { "name": "FANCI-PA", "type": "synonym" }, { "name": "Protein FACI", "type": "synonym" }, { "name": "fanconi anemia complementation group I homologue", "type": "synonym" }, { "name": "fanconi anemia complementation group I", "type": "synonym" } ], "gene_names": [ { "name": "Fanci", "type": "recommended" }, { "name": "CG13745", "type": "synonym" }, { "name": "Dmel\\CG13745", "type": "synonym" }, { "name": "FANCI", "type": "synonym" }, { "name": "fanci", "type": "synonym" } ], "record_id": "A1Z7L1-1", "evidence": [ { "id": "0050671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050671" } ] }, { "uniprot_canonical_ac": "Q9VNX1-1", "uniprot_ac": "Q9VNX1", "uniprot_id": "POLH_DROME", "refseq_ac": "NP_649371", "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 eta", "type": "recommended" }, { "name": "2.7.7.7", "type": "synonym" }, { "name": "CG7143-PA", "type": "synonym" }, { "name": "DNA polymerase eta", "type": "synonym" }, { "name": "DNApol-eta", "type": "synonym" }, { "name": "PolH-PA", "type": "synonym" }, { "name": "polymerase eta", "type": "synonym" } ], "gene_names": [ { "name": "PolH", "type": "recommended" }, { "name": "AAF51794", "type": "synonym" }, { "name": "CG7143", "type": "synonym" }, { "name": "DNA pol eta", "type": "synonym" }, { "name": "DNA pol-eta", "type": "synonym" }, { "name": "DNApol-eta", "type": "synonym" }, { "name": "DNApolH", "type": "synonym" }, { "name": "DNApoleta", "type": "synonym" }, { "name": "Dmel\\CG7143", "type": "synonym" }, { "name": "Dmpol eta", "type": "synonym" }, { "name": "POLH", "type": "synonym" }, { "name": "PolH", "type": "synonym" }, { "name": "dPoleta", "type": "synonym" }, { "name": "drad30A", "type": "synonym" }, { "name": "pol eta", "type": "synonym" }, { "name": "pol h", "type": "synonym" } ], "record_id": "Q9VNX1-1", "evidence": [ { "id": "0050671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050671" } ] }, { "uniprot_canonical_ac": "Q9W484-1", "uniprot_ac": "Q9W484", "uniprot_id": "RTEL1_DROME", "refseq_ac": "NP_001259262", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Regulator of telomere elongation helicase 1 homolog", "type": "recommended" }, { "name": "5.6.2.-", "type": "synonym" }, { "name": "CG4078-PB", "type": "synonym" }, { "name": "Rtel1-PB", "type": "synonym" }, { "name": "regulator of telomere elongation helicase 1, isoform B", "type": "synonym" }, { "name": "regulator of telomere elongation helicase 1", "type": "synonym" } ], "gene_names": [ { "name": "Rtel1", "type": "recommended" }, { "name": "CG4078", "type": "synonym" }, { "name": "Dmel\\CG4078", "type": "synonym" }, { "name": "Dmel_CG4078", "type": "synonym" }, { "name": "Rtel1", "type": "synonym" }, { "name": "dRTEL1", "type": "synonym" } ], "record_id": "Q9W484-1", "evidence": [ { "id": "0050671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050671" } ] }, { "uniprot_canonical_ac": "P49711-1", "uniprot_ac": "P49711", "uniprot_id": "CTCF_HUMAN", "refseq_ac": "NP_001177951", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Transcriptional repressor CTCF", "type": "recommended" }, { "name": "11 zinc finger transcriptional repressor", "type": "synonym" }, { "name": "11-zinc finger protein", "type": "synonym" }, { "name": "CCCTC-binding factor (zinc finger protein)", "type": "synonym" }, { "name": "CCCTC-binding factor", "type": "synonym" }, { "name": "CTCFL paralog", "type": "synonym" }, { "name": "transcriptional repressor CTCF isoform 2", "type": "synonym" }, { "name": "transcriptional repressor CTCF", "type": "synonym" } ], "gene_names": [ { "name": "CTCF", "type": "recommended" }, { "name": "CFAP108", "type": "synonym" }, { "name": "CTCF", "type": "synonym" }, { "name": "FAP108", "type": "synonym" }, { "name": "MRD21", "type": "synonym" } ], "record_id": "P49711-1", "evidence": [ { "id": "0050671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050671" } ] }, { "uniprot_canonical_ac": "Q86YC2-1", "uniprot_ac": "Q86YC2", "uniprot_id": "PALB2_HUMAN", "refseq_ac": "NP_078951", 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"glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Regulator of telomere elongation helicase 1", "type": "recommended" }, { "name": "5.6.2.-", "type": "synonym" }, { "name": "Novel helicase-like", "type": "synonym" }, { "name": "regulator of telomere elongation helicase 1 isoform 3", "type": "synonym" }, { "name": "regulator of telomere length", "type": "synonym" } ], "gene_names": [ { "name": "RTEL1", "type": "recommended" }, { "name": "C20orf41", "type": "synonym" }, { "name": "DKCA4", "type": "synonym" }, { "name": "DKCB5", "type": "synonym" }, { "name": "KIAA1088", "type": "synonym" }, { "name": "NHL", "type": "synonym" }, { "name": "PFBMFT3", "type": "synonym" }, { "name": "RTEL1", "type": "synonym" }, { "name": "RTEL", "type": "synonym" } ], "record_id": "Q9NZ71-1", "evidence": [ { "id": "0050671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050671" } ] }, { "uniprot_canonical_ac": "Q9Y253-1", 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telangiectasia mutated", "type": "synonym" }, { "name": "serine-protein kinase ATM isoform a", "type": "synonym" }, { "name": "serine-protein kinase ATM", "type": "synonym" }, { "name": "serine/threonine kinase ATM", "type": "synonym" } ], "gene_names": [ { "name": "ATM", "type": "recommended" }, { "name": "AT1", "type": "synonym" }, { "name": "ATA", "type": "synonym" }, { "name": "ATC", "type": "synonym" }, { "name": "ATDC", "type": "synonym" }, { "name": "ATD", "type": "synonym" }, { "name": "ATE", "type": "synonym" }, { "name": "ATM", "type": "synonym" }, { "name": "TEL1", "type": "synonym" }, { "name": "TELO1", "type": "synonym" } ], "record_id": "Q13315-1", "evidence": [ { "id": "0050671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050671" } ] }, { "uniprot_canonical_ac": "O96017-1", "uniprot_ac": "O96017", "uniprot_id": "CHK2_HUMAN", "refseq_ac": "NP_001005735", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, 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