{ "disease_id": "DOID:1040", "recommended_name": { "id": "DOID:1040", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1040", "name": "chronic lymphocytic leukemia", "description": "A lymphocytic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood." }, "synonyms": [ { "id": "DOID:1040", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1040", "name": "B-cell chronic lymphocytic leukaemia", "description": "" }, { "id": "DOID:1040", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1040", "name": "B-cell chronic lymphocytic leukemia", "description": "" }, { "id": "DOID:1040", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1040", "name": "CLL", "description": "" }, { "id": "DOID:1040", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1040", "name": "chronic lymphatic leukaemia", "description": "" }, { "id": "DOID:1040", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1040", "name": "chronic lymphatic leukemia", "description": "" }, { "id": "DOID:1040", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1040", "name": "chronic lymphocytic leukaemia", "description": "" }, { "id": "DOID:1040", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1040", "name": "lymphoplasmacytic leukaemia", "description": "" }, { "id": "DOID:1040", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1040", "name": "lymphoplasmacytic leukemia", "description": "" }, { "id": "MONDO:0007190", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007190", "name": "leukemia, chronic lymphocytic, susceptibility to, 2", "description": "" }, { "id": "MONDO:0007190", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007190", "name": "leukemia, chronic lymphocytic, susceptibility to, 2", "description": "" }, { "id": "MONDO:0007190", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007190", "name": "leukemia, chronic lymphocytic, susceptibility to, type 2", "description": "" }, { "id": "MONDO:0007190", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007190", "name": "B-cell malignancy, low-grade", "description": "" }, { "id": "MONDO:0007190", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007190", "name": "Clls2", "description": "" }, { "id": "MONDO:0007190", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007190", "name": "disrupted in B-cell malignancy", "description": "" }, { "id": "MONDO:0007190", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007190", "name": "leukemia, chronic lymphocytic, B-cell", "description": "" }, { "id": "MONDO:0004948", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004948", "name": "B-cell chronic lymphocytic leukemia", "description": "B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma, and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia. The clinical course is extremely heterogeneous with survival ranging from a few months to several decades." }, { "id": "MONDO:0004948", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004948", "name": "B cell CLL", "description": "" }, { "id": "MONDO:0004948", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004948", "name": "B cell chronic lymphocytic leukaemia", "description": "" }, { "id": "MONDO:0004948", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004948", "name": "B cell chronic lymphocytic leukemia", "description": "" }, { "id": "MONDO:0004948", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004948", "name": "B cell lymphocytic leukaemia", "description": "" }, { "id": "MONDO:0004948", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004948", "name": "B cell lymphocytic leukemia", "description": "" }, { "id": "MONDO:0004948", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004948", "name": "B-CLL", "description": "" }, { "id": "MONDO:0004948", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004948", "name": "B-cell CLL", "description": "" }, { "id": "MONDO:0004948", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004948", "name": "B-cell chronic lymphocytic leukemia", "description": "" }, { "id": "MONDO:0004948", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004948", "name": "B-cell chronic lymphogenous leukaemia", "description": "" }, { "id": "MONDO:0004948", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004948", "name": "B-cell chronic lymphogenous leukemia", "description": "" }, { "id": "MONDO:0004948", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004948", "name": "B-cell chronic lymphoid leukaemia", "description": "" }, { "id": "MONDO:0004948", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004948", "name": "B-cell chronic lymphoid leukemia", "description": "" }, { "id": "MONDO:0004948", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004948", "name": "B-cell lymphocytic leukaemia", "description": "" }, { "id": "MONDO:0004948", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004948", "name": "B-cell lymphocytic leukemia", "description": "" }, { "id": "MONDO:0004948", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004948", "name": "BCLL", "description": "" }, { "id": "MONDO:0004948", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004948", "name": "CLL", "description": "" }, { "id": "MONDO:0004948", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004948", "name": "Chronic Lymphocytic Leukemia", "description": "" }, { "id": "MONDO:0004948", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004948", "name": "chronic B-cell lymphocytic leukaemia", "description": "" }, { "id": "MONDO:0004948", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004948", "name": "chronic B-cell lymphocytic leukemia", "description": "" }, { "id": "MONDO:0004948", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004948", "name": "chronic lymphatic leukaemia", "description": "" }, { "id": "MONDO:0004948", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004948", "name": "chronic lymphatic leukemia", "description": "" }, { "id": "MONDO:0004948", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004948", "name": "chronic lymphocytic leukaemia", "description": "" }, { "id": "MONDO:0004948", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004948", "name": "chronic lymphocytic leukaemia (CLL)", "description": "" }, { "id": "MONDO:0004948", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004948", "name": "chronic lymphocytic leukemia", "description": "" }, { "id": "MONDO:0004948", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004948", "name": "chronic lymphocytic leukemia (CLL)", "description": "" }, { "id": "MONDO:0004948", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004948", "name": "chronic lymphogenous leukaemia", "description": "" }, { "id": "MONDO:0004948", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004948", "name": "chronic lymphogenous leukemia", "description": "" }, { "id": "MONDO:0004948", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004948", "name": "hematopoeitic - chronic lymphocytic leukaemia (CLL)", "description": "" }, { "id": "MONDO:0004948", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004948", "name": "hematopoeitic 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"https://monarchinitiative.org/disease/MONDO:0004948", "name": "small lymphocytic lymphoma", "description": "" }, { "id": "MONDO:0012936", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012936", "name": "leukemia, chronic lymphocytic, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012936", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012936", "name": "leukemia, chronic lymphocytic susceptibility to, 5", "description": "" }, { "id": "MONDO:0012936", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012936", "name": "leukemia, chronic lymphocytic, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012936", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012936", "name": "leukemia, chronic lymphocytic, susceptibility to, type 5", "description": "" }, { "id": "MONDO:0012936", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012936", "name": "Clls5", "description": "" }, { "id": "MONDO:0012935", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012935", "name": "leukemia, chronic lymphocytic, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012935", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012935", "name": "leukemia, chronic lymphocytic susceptibility to, 4", "description": "" }, { "id": "MONDO:0012935", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012935", "name": "leukemia, chronic lymphocytic, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012935", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012935", "name": "leukemia, chronic lymphocytic, susceptibility to, type 4", "description": "" }, { "id": "MONDO:0012935", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012935", "name": "Clls4", "description": "" }, { "id": "MONDO:0012934", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012934", "name": "leukemia, chronic lymphocytic, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012934", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012934", "name": "leukemia, chronic lymphocytic, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012934", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012934", "name": "leukemia, chronic lymphocytic, susceptibility to, type 3", "description": "" }, { "id": "MONDO:0012934", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012934", "name": "Clls3", "description": "" }, { "id": "MONDO:0012318", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012318", "name": "leukemia, chronic lymphocytic, susceptibility to, 1", "description": "" }, { "id": "MONDO:0012318", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012318", "name": "leukemia, chronic lymphocytic, susceptibility to, 1", "description": "" }, { "id": "MONDO:0012318", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012318", "name": "leukemia, chronic lymphocytic, susceptibility to, type 1", "description": "" }, { "id": "MONDO:0012318", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012318", "name": "Clls1", "description": "" }, { "id": "MIM:151400", "resource": "MIM", "url": "https://www.omim.org/entry/151400", "name": "Leukemia, chronic lymphocytic", "description": "Leukemia, chronic lymphocytic" } ], "children": [ { "id": "DOID:285", "label": "hairy cell leukemia", "link_status": true, "children": [] }, { "id": "DOID:1039", "label": "prolymphocytic leukemia", "link_status": false, "children": [ { "id": "DOID:0081042", "label": "T-cell prolymphocytic leukemia", "link_status": true, "children": [] } ] } ], "id_list": [ "DOID:0081042", "DOID:285", "DOID:1039", "DOID:1040" ], "unlinked_id_list": [ "DOID:1039" ], "crossref": [ { "id": "DOID:1040", "database": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1040", "categories": [] }, { "id": "MONDO:0007190", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007190", "categories": [] }, { "id": "MONDO:0004948", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004948", "categories": [] }, { "id": "MONDO:0012936", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012936", "categories": [] }, { "id": "MONDO:0012935", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012935", "categories": [] }, { "id": "MONDO:0012934", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012934", "categories": [] }, { "id": "MONDO:0012318", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012318", "categories": [] }, { "id": "MIM:151400", "database": "MIM", "url": "https://www.omim.org/entry/151400", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "Q7JZW2-1", "uniprot_ac": "Q7JZW2", "uniprot_id": "Q7JZW2_DROME", "refseq_ac": "NP_611136", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Small ribosomal subunit protein uS19", "resource": "UniProtKB", "type": "recommended" }, { "name": "40S ribosomal protein S15", "resource": "UniProtKB", "type": "synonym" }, { "name": "CG8332-PA; RpS15-PA", "resource": "RefSeq", "type": "synonym" }, { "name": "ribosomal protein S15, isoform A", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "RpS15", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG8332", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel\\CG8332", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel_CG8332", "resource": "UniProtKB", "type": "synonym" }, { "name": "RpS15-RB", "resource": "UniProtKB", "type": "synonym" }, { "name": "RpS15", "resource": "RefSeq", "type": "synonym" }, { "name": "S15", "resource": "UniProtKB", "type": "synonym" }, { "name": "anon-EST:Posey137; anon-EST:Posey185; CG8332; Dmel\\CG8332; s15; S15; S19", "resource": "RefSeq", "type": "synonym" }, { "name": "anon-EST:Posey137", "resource": "UniProtKB", "type": "synonym" }, { "name": "anon-EST:Posey185", "resource": "UniProtKB", "type": "synonym" }, { "name": "s15", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "1040", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1040" } ] }, { "uniprot_canonical_ac": "Q9VP47-1", "uniprot_ac": "Q9VP47", "uniprot_id": "TSR1_DROME", "refseq_ac": "NP_649304", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Pre-rRNA-processing protein TSR1 homolog", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG7338-PA; Tsr1-PA; ribosome assembly factor Tsr1", "resource": "RefSeq", "type": "synonym" }, { "name": "Tsr1 ribosome assembly factor", "resource": "RefSeq", "type": "synonym" }, { "name": "Tsr1 ribosome assembly factor", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "Tsr1", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG7338; Dmel\\CG7338; tsr1", "resource": "RefSeq", "type": "synonym" }, { "name": "CG7338", "resource": "UniProtKB", "type": "synonym" }, { "name": "Tsr1", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "1040", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1040" } ] }, { "uniprot_canonical_ac": "Q9VGU6-1", "uniprot_ac": "Q9VGU6", "uniprot_id": "KAD3_DROME", 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"UniProtKB", "type": "synonym" }, { "name": "Ak3", "resource": "RefSeq", "type": "synonym" }, { "name": "CG6612", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dak3", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "1040", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1040" } ] }, { "uniprot_canonical_ac": "Q9W4S7-1", "uniprot_ac": "Q9W4S7", "uniprot_id": "MYC_DROME", "refseq_ac": "NP_001259204", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Myc proto-oncogene protein", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG10798-PB; Myc-PB; lethal (1) G0359; diminuitive; lethal (1) G0354; diminutive", "resource": "RefSeq", "type": "synonym" }, { "name": "Myc, isoform B", "resource": "RefSeq", "type": "synonym" }, { "name": "Protein diminutive", "resource": "UniProtKB", "type": "synonym" }, { "name": "dMyc", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "Myc", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG10798", "resource": "UniProtKB", "type": "synonym" }, { "name": "D-Myc", "resource": "UniProtKB", "type": "synonym" }, { "name": "DMYc", "resource": "UniProtKB", "type": "synonym" }, { "name": "DM", "resource": "UniProtKB", "type": "synonym" }, { "name": "Diminutive", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel\\CG10798", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel_CG10798", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmyc", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dm", "resource": "UniProtKB", "type": "synonym" }, { "name": "EG:BACN5I9.1", "resource": "UniProtKB", "type": "synonym" }, { "name": "MYC", "resource": "UniProtKB", "type": "synonym" }, { "name": "Myc", "resource": "RefSeq", 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], "evidence": [ { "id": "1040", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1040" } ] }, { "uniprot_canonical_ac": "Q01855-1", "uniprot_ac": "Q01855", "uniprot_id": "RS15_YEAST", "refseq_ac": "NP_014602", "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": "Small ribosomal subunit protein uS19", "resource": "UniProtKB", "type": "recommended" }, { "name": "40S ribosomal protein S15", "resource": "UniProtKB", "type": "synonym" }, { "name": "RIG protein", "resource": "UniProtKB", "type": "synonym" }, { "name": "RP52", "resource": "UniProtKB", "type": "synonym" }, { "name": "S21", "resource": "UniProtKB", "type": "synonym" }, { "name": "YS21", "resource": "UniProtKB", "type": "synonym" }, { "name": "ribosomal 40S subunit protein S15", 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"Lymphoid phosphatase", "resource": "UniProtKB", "type": "synonym" }, { "name": "PEP", "resource": "UniProtKB", "type": "synonym" }, { "name": "PEST-domain phosphatase", "resource": "UniProtKB", "type": "synonym" }, { "name": "lymphoid-specific protein tyrosine phosphatase; PEST-domain phosphatase; protein tyrosine phosphatase, non-receptor type 8; hematopoietic cell protein-tyrosine phosphatase 70Z-PEP; protein tyrosine phosphatase, non-receptor type 22 (lymphoid)", "resource": "RefSeq", "type": "synonym" }, { "name": "tyrosine-protein phosphatase non-receptor type 22 isoform 3", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "PTPN22", "resource": "UniProtKB", "type": "recommended" }, { "name": "LYP; LYP1; LYP2; PEP; PTPN22.5; PTPN22.6; PTPN8", "resource": "RefSeq", "type": "synonym" }, { "name": "PTPN22", "resource": "RefSeq", "type": "synonym" }, { "name": "PTPN8", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "1040", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1040" } ] }, { "uniprot_canonical_ac": "P05113-1", "uniprot_ac": "P05113", "uniprot_id": "IL5_HUMAN", "refseq_ac": "NP_000870", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Interleukin-5", "resource": "UniProtKB", "type": "recommended" }, { "name": "B-cell differentiation factor I", "resource": "UniProtKB", "type": "synonym" }, { "name": "Eosinophil differentiation factor", "resource": "UniProtKB", "type": "synonym" }, { "name": "IL-5", "resource": "UniProtKB", "type": "synonym" }, { "name": "T-cell replacing factor", "resource": "UniProtKB", "type": "synonym" }, { "name": "TRF", "resource": "UniProtKB", "type": "synonym" }, { "name": "eosinophil differentiation factor; T-cell replacing factor; B-cell differentiation factor I; colony-stimulating 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"id": "1040", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1040" } ] }, { "uniprot_canonical_ac": "Q9UIJ7-1", "uniprot_ac": "Q9UIJ7", "uniprot_id": "KAD3_HUMAN", "refseq_ac": "NP_001186781", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "GTP:AMP phosphotransferase AK3, mitochondrial", "resource": "UniProtKB", "type": "recommended" }, { "name": "2.7.4.10", "resource": "UniProtKB", "type": "synonym" }, { "name": "Adenylate kinase 3 alpha-like 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Adenylate kinase 3", "resource": "UniProtKB", "type": "synonym" }, { "name": "Adenylate kinase isozyme 3", "resource": "UniProtKB", "type": "synonym" }, { "name": "GTP:AMP phosphotransferase AK3, mitochondrial isoform b", "resource": "RefSeq", "type": "synonym" }, { "name": "adenylate 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gp39; hCD40L; HIGM1; IGM; IMD3; T-BAM; TNFSF5; TRAP", "resource": "RefSeq", "type": "synonym" }, { "name": "CD40LG", "resource": "RefSeq", "type": "synonym" }, { "name": "CD40L", "resource": "UniProtKB", "type": "synonym" }, { "name": "TNFSF5", "resource": "UniProtKB", "type": "synonym" }, { "name": "TRAP", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "1040", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1040" } ] }, { "uniprot_canonical_ac": "P42081-1", "uniprot_ac": "P42081", "uniprot_id": "CD86_HUMAN", "refseq_ac": "NP_001193853", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "T-lymphocyte activation antigen CD86", "resource": "UniProtKB", "type": "recommended" }, { "name": "Activation B7-2 antigen", "resource": "UniProtKB", "type": "synonym" }, { "name": "B70", "resource": "UniProtKB", "type": "synonym" }, { "name": "BU63", "resource": "UniProtKB", "type": "synonym" }, { "name": "CD86 antigen (CD28 antigen ligand 2, B7-2 antigen); B-lymphocyte activation antigen B7-2; CTLA-4 counter-receptor B7.2; T-lymphocyte activation antigen CD86; BU63; FUN-1; CD86 v6", "resource": "RefSeq", "type": "synonym" }, { "name": "CTLA-4 counter-receptor B7.2", "resource": "UniProtKB", "type": "synonym" }, { "name": "FUN-1", "resource": "UniProtKB", "type": "synonym" }, { "name": "T-lymphocyte activation antigen CD86 isoform 4 precursor", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "CD86", "resource": "UniProtKB", "type": "recommended" }, { "name": "B7-2; B7.2; B70; CD28LG2; LAB72", "resource": "RefSeq", "type": "synonym" }, { "name": "CD28LG2", "resource": "UniProtKB", "type": "synonym" }, { "name": "CD86", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "1040", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1040" } ] }, { "uniprot_canonical_ac": "Q2NL82-1", "uniprot_ac": "Q2NL82", "uniprot_id": "TSR1_HUMAN", "refseq_ac": "NP_060598", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Pre-rRNA-processing protein TSR1 homolog", "resource": "UniProtKB", "type": "recommended" }, { "name": "pre-rRNA-processing protein TSR1 homolog", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "TSR1", "resource": "UniProtKB", "type": "recommended" }, { "name": "KIAA1401", "resource": "UniProtKB", "type": "synonym" }, { "name": "TSR1", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "1040", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1040" } ] }, { "uniprot_canonical_ac": "P62841-1", "uniprot_ac": "P62841", 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