{ "disease_id": "DOID:0060475", "recommended_name": { "id": "DOID:0060475", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060475", "name": "myoclonic-atonic epilepsy", "description": "An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has_material_basis_in heterozygous mutation in the SLC6A1 gene on chromosome 3p25." }, "synonyms": [ { "id": "DOID:0060475", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060475", "name": "EEOC", "description": "" }, { "id": "DOID:0060475", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060475", "name": "childhood onset epileptic encephalopathy", "description": "" }, { "id": "MONDO:0014633", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014633", "name": "epilepsy with myoclonic atonic seizures", "description": "An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has material basis in heterozygous mutation in the SLC6A1 gene on chromosome 3p25." }, { "id": "MONDO:0014633", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014633", "name": "Doose syndrome", "description": "" }, { "id": "MONDO:0014633", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014633", "name": "EMAS", "description": "" }, { "id": "MONDO:0014633", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014633", "name": "EMAtS", "description": "" }, { "id": "MONDO:0014633", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014633", "name": "MAE", "description": "" }, { "id": "MONDO:0014633", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014633", "name": "Myoclonic Atonic Epilepsy", "description": "" }, { "id": "MONDO:0014633", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014633", "name": "epilepsy with myoclonic atonic seizures", "description": "" }, { "id": "MONDO:0014633", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014633", "name": "epilepsy with myoclonic-astatic seizures", "description": "" }, { "id": "MONDO:0014633", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014633", "name": "epilepsy with myoclonic-atonic seizures", "description": "" }, { "id": "MONDO:0014633", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014633", "name": "myoclonic atonic epilepsy", "description": "" }, { "id": "MONDO:0014633", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014633", "name": "myoclonic-astatic epilepsy in early childhood", "description": "" }, { "id": "MONDO:0014633", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014633", "name": "myoclonic-atonic epilepsy", "description": "" }, { "id": "MONDO:0014633", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014633", "name": "epilepsy with myoclono-astatic crisis", "description": "" }, { "id": "MONDO:0014633", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014633", "name": "myoclonic astatic epilepsy", "description": "" }, { "id": "MIM:616421", "resource": "MIM", "url": "https://www.omim.org/entry/616421", "name": "Myoclonic-atonic epilepsy", "description": "Myoclonic-atonic epilepsy" } ], "children": [], "id_list": [ "DOID:0060475" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0060475", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060475", "categories": [] }, { "id": "MONDO:0014633", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014633", "categories": [] }, { "id": "MIM:616421", "database": "MIM", "url": "https://www.omim.org/entry/616421", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "A0A8M9PQC3-1", "uniprot_ac": "A0A8M9PQC3", "uniprot_id": "A0A8M9PQC3_DANRE", "refseq_ac": "XP_021323365", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Chromodomain-helicase-DNA-binding protein 2 isoform X1", "type": "synonym" }, { "name": "chromodomain-helicase-DNA-binding protein 2 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "chd2", "type": "recommended" }, { "name": "chd2", "type": "synonym" }, { "name": "si:ch211-196l7.5", "type": "synonym" } ], "record_id": "A0A8M9PQC3-1", "evidence": [ { "id": "0060475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060475" } ] }, { "uniprot_canonical_ac": "F1QUY7-1", "uniprot_ac": "F1QUY7", "uniprot_id": "F1QUY7_DANRE", "refseq_ac": "NP_001038752", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Transporter", "type": "recommended" }, { "name": "sodium- and chloride-dependent GABA transporter 1a", "type": "synonym" }, { "name": "solute carrier family 6 (neurotransmitter transporter), member 1a", "type": "synonym" }, { "name": "solute carrier family 6 (neurotransmitter transporter, GABA), member 1a", "type": "synonym" } ], "gene_names": [ { "name": "slc6a1a", "type": "recommended" }, { "name": "fj43h03", "type": "synonym" }, { "name": "slc6a1a", "type": "synonym" }, { "name": "wu:fj43h03", "type": "synonym" }, { "name": "zgc:136569", "type": "synonym" } ], "record_id": "F1QUY7-1", "evidence": [ { "id": "0060475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060475" } ] }, { "uniprot_canonical_ac": "A0A8M1RN56-1", "uniprot_ac": "A0A8M1RN56", "uniprot_id": "A0A8M1RN56_DANRE", "refseq_ac": "XP_003201409", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "TBC1 domain family member 24", "type": "recommended" }, { "name": "TBC1 domain family member 24 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "tbc1d24", "type": "recommended" }, { "name": "tbc1d24", "type": "synonym" } ], "record_id": "A0A8M1RN56-1", "evidence": [ { "id": "0060475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060475" } ] }, { "uniprot_canonical_ac": "A0A8M2BJU1-1", "uniprot_ac": "A0A8M2BJU1", "uniprot_id": "A0A8M2BJU1_DANRE", "refseq_ac": "XP_005172693", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Roundabout homolog 3 isoform X1", "type": "synonym" }, { "name": "roundabout homolog 3 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "robo3", "type": "recommended" }, { "name": "cb503", "type": "synonym" }, { "name": "robo3", "type": "synonym" } ], "record_id": "A0A8M2BJU1-1", "evidence": [ { "id": "0060475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060475" } ] }, { "uniprot_canonical_ac": "A0AB32T813-1", "uniprot_ac": "A0AB32T813", "uniprot_id": "A0AB32T813_DANRE", "refseq_ac": "XP_068069559", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Roundabout homolog 1 isoform X1", "type": "synonym" }, { "name": "roundabout homolog 1 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "robo1", "type": "recommended" }, { "name": "SAG4A", "type": "synonym" }, { "name": "robo1", "type": "synonym" }, { "name": "t2gtl4a", "type": "synonym" } ], "record_id": "A0AB32T813-1", "evidence": [ { "id": "0060475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060475" } ] }, { "uniprot_canonical_ac": "Q3UUG6-1", "uniprot_ac": "Q3UUG6", "uniprot_id": "TBC24_MOUSE", "refseq_ac": "NP_001157319", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "TBC1 domain family member 24", "type": "recommended" }, { "name": "TBC1 domain family member 24 isoform a", "type": "synonym" } ], "gene_names": [ { "name": "Tbc1d24", "type": "recommended" }, { "name": "9630033P11", "type": "synonym" }, { "name": "C530046L02Rik", "type": "synonym" }, { "name": "Kiaa1171", "type": "synonym" }, { "name": "Tbc1d24", "type": "synonym" }, { "name": "mKIAA1171", "type": "synonym" } ], "record_id": "Q3UUG6-1", "evidence": [ { "id": "0060475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060475" } ] }, { "uniprot_canonical_ac": "P31648-1", "uniprot_ac": "P31648", "uniprot_id": "SC6A1_MOUSE", "refseq_ac": "NP_848818", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Sodium- and chloride-dependent GABA transporter 1", "type": "recommended" }, { "name": "GAT-1", "type": "synonym" }, { "name": "Solute carrier family 6 member 1", "type": "synonym" }, { "name": "gamma-aminobutyric acid (GABA-A) transporter 1", "type": "synonym" }, { "name": "sodium- and chloride-dependent GABA transporter 1", "type": "synonym" }, { "name": "solute carrier family 6 member 1", "type": "synonym" } ], "gene_names": [ { "name": "Slc6a1", "type": "recommended" }, { "name": "A730043E01", "type": "synonym" }, { "name": "GABATHG", "type": "synonym" }, { "name": "GABATR", "type": "synonym" }, { "name": "GAT-1", "type": "synonym" }, { "name": "Gabt1", "type": "synonym" }, { "name": "Gabt", "type": "synonym" }, { "name": "Gat-1", "type": "synonym" }, { "name": "Gat1", "type": "synonym" }, { "name": "Slc6a1", "type": "synonym" }, { "name": "XT-1", "type": "synonym" }, { "name": "Xtrp1", "type": "synonym" } ], "record_id": "P31648-1", "evidence": [ { "id": "0060475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060475" } ] }, { "uniprot_canonical_ac": "O89026-1", "uniprot_ac": "O89026", "uniprot_id": "ROBO1_MOUSE", "refseq_ac": "NP_062286", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Roundabout homolog 1", "type": "recommended" }, { "name": "roundabout homolog 1 isoform 2 precursor", "type": "synonym" }, { "name": "roundabout homolog 1", "type": "synonym" } ], "gene_names": [ { "name": "Robo1", "type": "recommended" }, { "name": "DUTT1", "type": "synonym" }, { "name": "Dutt1", "type": "synonym" }, { "name": "Gm310", "type": "synonym" }, { "name": "Robo1", "type": "synonym" } ], "record_id": "O89026-1", "evidence": [ { "id": "0060475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060475" } ] }, { "uniprot_canonical_ac": "Q7TPD3-1", "uniprot_ac": "Q7TPD3", "uniprot_id": "ROBO2_MOUSE", "refseq_ac": "NP_001401968", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Roundabout homolog 2", "type": "recommended" }, { "name": "roundabout homolog 2 isoform 8 precursor", "type": "synonym" }, { "name": "roundabout homolog 2", "type": "synonym" } ], "gene_names": [ { "name": "Robo2", "type": "recommended" }, { "name": "2600013A04Rik", "type": "synonym" }, { "name": "9430089E08Rik", "type": "synonym" }, { "name": "D230004I22Rik", "type": "synonym" }, { "name": "Kiaa1568", "type": "synonym" }, { "name": "Robo2", "type": "synonym" }, { "name": "mKIAA1568", "type": "synonym" } ], "record_id": "Q7TPD3-1", "evidence": [ { "id": "0060475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060475" } ] }, { "uniprot_canonical_ac": "Q9Z2I4-3", "uniprot_ac": "Q9Z2I4", "uniprot_id": "ROBO3_MOUSE", "refseq_ac": "NP_001158239", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Roundabout homolog 3", "type": "recommended" }, { "name": "Retinoblastoma-inhibiting gene 1 protein", "type": "synonym" }, { "name": "Rig-1", "type": "synonym" }, { "name": "Roundabout guidance receptor 3", "type": "synonym" }, { "name": "retinoblastoma inhibiting gene 1", "type": "synonym" }, { "name": "retinoblastoma-inhibiting gene 1 protein", "type": 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"evidence": [ { "id": "0060475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060475" } ] }, { "uniprot_canonical_ac": "E9PZM4-1", "uniprot_ac": "E9PZM4", "uniprot_id": "CHD2_MOUSE", "refseq_ac": "NP_001074814", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "ATP-dependent chromatin remodeler CHD2", "type": "recommended" }, { "name": "3.6.4.-", "type": "synonym" }, { "name": "ATP-dependent chromatin remodeler CHD2", "type": "synonym" }, { "name": "ATP-dependent helicase CHD2", "type": "synonym" }, { "name": "CHD-2", "type": "synonym" }, { "name": "Chromo domain-containing protein 2", "type": "synonym" }, { "name": "chromo domain-containing protein 2", "type": "synonym" } ], "gene_names": [ { "name": "Chd2", "type": "recommended" }, { "name": "2810013C04Rik", "type": "synonym" }, { "name": "2810040A01Rik", 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yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "Mitochondrial dicarboxylate transporter", "type": "recommended" }, { "name": "DTP", "type": "synonym" }, { "name": "Dic1p", "type": "synonym" }, { "name": "Dicarboxylate carrier 1", "type": "synonym" } ], "gene_names": [ { "name": "DIC1", "type": "recommended" }, { "name": "DIC1", "type": "synonym" } ], "record_id": "Q06143-1", "evidence": [ { "id": "0060475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060475" } ] }, { "uniprot_canonical_ac": "P32613-1", "uniprot_ac": "P32613", "uniprot_id": "TCA17_YEAST", "refseq_ac": "NP_010866", "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": "TRAPP-associated protein TCA17", "type": 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carrier family 6 member 1", "type": "synonym" }, { "name": "sodium- and chloride-dependent GABA transporter 1", "type": "synonym" }, { "name": "solute carrier family 6 (neurotransmitter transporter), member 1", "type": "synonym" }, { "name": "solute carrier family 6 (neurotransmitter transporter, GABA), member 1", "type": "synonym" } ], "gene_names": [ { "name": "Slc6a1", "type": "recommended" }, { "name": "Gabt1", "type": "synonym" }, { "name": "Gat-1", "type": "synonym" }, { "name": "Gat1", "type": "synonym" }, { "name": "Slc6a1", "type": "synonym" } ], "record_id": "P23978-1", "evidence": [ { "id": "0060475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060475" } ] }, { "uniprot_canonical_ac": "A0A0G2K5B0-1", "uniprot_ac": "A0A0G2K5B0", "uniprot_id": "TBC24_RAT", "refseq_ac": "XP_038941277", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "TBC1 domain family member 24", "type": "recommended" }, { "name": "TBC1 domain family member 24 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "Tbc1d24", "type": "recommended" }, { "name": "RGD1306143", "type": "synonym" }, { "name": "Tbc1d24", "type": "synonym" } ], "record_id": "A0A0G2K5B0-1", "evidence": [ { "id": "0060475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060475" } ] }, { "uniprot_canonical_ac": "A0ABK0LCL0-1", "uniprot_ac": "A0ABK0LCL0", "uniprot_id": "A0ABK0LCL0_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": "Roundabout guidance receptor 2", "type": "synonym" } ], "gene_names": [ { "name": "Robo2", "type": "recommended" } ], "record_id": "A0ABK0LCL0-1", "evidence": [ { "id": "0060475", "database": 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} ], "protein_names": [ { "name": "Roundabout homolog 3", "type": "recommended" }, { "name": "roundabout homolog 3", "type": "synonym" }, { "name": "roundabout, axon guidance receptor, homolog 3", "type": "synonym" } ], "gene_names": [ { "name": "Robo3", "type": "recommended" }, { "name": "Robo3", "type": "synonym" } ], "record_id": "A0A8I6AJI9-1", "evidence": [ { "id": "0060475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060475" } ] }, { "uniprot_canonical_ac": "Q6MG21-1", "uniprot_ac": "Q6MG21", "uniprot_id": "SYVM_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": "Valine--tRNA ligase, mitochondrial", "type": "recommended" }, { "name": "6.1.1.9", "type": "synonym" }, { "name": "ValRS", "type": "synonym" }, { "name": "Valyl-tRNA synthetase", "type": "synonym" } ], 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"url": "https://www.alliancegenome.org/disease/DOID:0060475" } ] }, { "uniprot_canonical_ac": "O35162-1", "uniprot_ac": "O35162", "uniprot_id": "HSP13_RAT", "refseq_ac": "NP_062144", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Heat shock 70 kDa protein 13", "type": "recommended" }, { "name": "Microsomal stress-70 protein ATPase core", "type": "synonym" }, { "name": "Stress-70 protein chaperone microsome-associated 60 kDa protein", "type": "synonym" }, { "name": "heat shock 70 kDa protein 13 precursor", "type": "synonym" }, { "name": "heat shock 70 kDa protein 13", "type": "synonym" }, { "name": "heat shock protein 13", "type": "synonym" }, { "name": "heat shock protein 70 family, member 13", "type": "synonym" }, { "name": "heat shock protein 70kDa family, member 13", "type": "synonym" }, { "name": "microsomal stress-70 protein ATPase core", "type": "synonym" }, { "name": "stress 70 protein chaperone, microsome-associated, 60kD human homolog", "type": "synonym" }, { "name": "stress 70 protein chaperone, microsome-associated, human homolog", "type": "synonym" }, { "name": "stress-70 protein chaperone microsome-associated 60 kDa protein", "type": "synonym" } ], "gene_names": [ { "name": "Hspa13", "type": "recommended" }, { "name": "Hspa13", "type": "synonym" }, { "name": "Stch", "type": "synonym" } ], "record_id": "O35162-1", "evidence": [ { "id": "0060475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060475" } ] }, { "uniprot_canonical_ac": "Q9VIH7-1", "uniprot_ac": "Q9VIH7", "uniprot_id": "SKY_DROME", "refseq_ac": "NP_001163026", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": 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7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Transporter", "type": "recommended" }, { "name": "CG1732-PA", "type": "synonym" }, { "name": "GABA transporter, isoform A", "type": "synonym" }, { "name": "Gat-PA", "type": "synonym" } ], "gene_names": [ { "name": "Gat", "type": "recommended" }, { "name": "CG1732a", "type": "synonym" }, { "name": "CG1732", "type": "synonym" }, { "name": "DmGAT", "type": "synonym" }, { "name": "Dmel\\CG1732", "type": "synonym" }, { "name": "Dmel_CG1732", "type": "synonym" }, { "name": "GAT", "type": "synonym" }, { "name": "Gat", "type": "synonym" }, { "name": "anon-WO0149848.11", "type": "synonym" }, { "name": "dGAT", "type": "synonym" }, { "name": "gat", "type": "synonym" } ], "record_id": "Q9V4E7-1", "evidence": [ { "id": "0060475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060475" } ] }, { "uniprot_canonical_ac": "Q9VVS1-1", "uniprot_ac": "Q9VVS1", "uniprot_id": "Q9VVS1_DROME", "refseq_ac": "NP_001262021", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG18363-PC", "type": "synonym" }, { "name": "Dic4-PC", "type": "synonym" }, { "name": "Dicarboxylate carrier 4, isoform A", "type": "synonym" }, { "name": "Dicarboxylate carrier 4, isoform C", "type": "synonym" }, { "name": "dicarboxylate carrier 4, isoform C", "type": "synonym" } ], "gene_names": [ { "name": "Dic4", "type": "recommended" }, { "name": "CG18363", "type": "synonym" }, { "name": "Dic4", "type": "synonym" }, { "name": "DmDic4p", "type": "synonym" }, { "name": "Dmel\\CG18363", "type": "synonym" }, { "name": "Dmel_CG18363", "type": "synonym" } ], "record_id": "Q9VVS1-1", "evidence": [ { "id": "0060475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060475" } ] }, { "uniprot_canonical_ac": "A0A0B4KF06-1", "uniprot_ac": "A0A0B4KF06", "uniprot_id": "A0A0B4KF06_DROME", "refseq_ac": "NP_001260946", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Valine--tRNA ligase", "type": "recommended" }, { "name": "6.1.1.9", "type": "synonym" }, { "name": "CG4062-PC", "type": "synonym" }, { "name": "ValRS-PC", "type": "synonym" }, { "name": "Valyl-tRNA synthetase, isoform C", "type": "synonym" }, { "name": "Valyl-tRNA synthetase", "type": "synonym" } ], "gene_names": [ { "name": "ValRS", "type": "recommended" }, { "name": "Aats-val", "type": "synonym" }, { "name": "BEST:LD45671", "type": "synonym" }, { "name": "CG4062", "type": "synonym" }, { "name": "Dmel\\CG4062", "type": "synonym" }, { "name": "Dmel_CG4062", "type": "synonym" }, { "name": "VARS", "type": "synonym" }, { "name": "VRS", "type": "synonym" }, { "name": "ValRS", "type": "synonym" }, { "name": "aaRS(Val)", "type": "synonym" }, { "name": "aats-val", "type": "synonym" }, { "name": "dVARS", "type": "synonym" }, { "name": "l(2)03531", "type": "synonym" }, { "name": "l(2)rI255", "type": "synonym" }, { "name": "ld45671", "type": "synonym" } ], "record_id": "A0A0B4KF06-1", "evidence": [ { "id": "0060475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060475" } ] }, { "uniprot_canonical_ac": "A1Z787-1", "uniprot_ac": "A1Z787", "uniprot_id": "A1Z787_DROME", "refseq_ac": "NP_610344", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG11196-PA", "type": "synonym" }, { "name": "Dic3-PA", "type": "synonym" }, { "name": "Dicarboxylate carrier 3, isoform A", "type": "synonym" }, { "name": "dicarboxylate carrier 3, isoform A", "type": "synonym" } ], "gene_names": [ { "name": "Dic3", "type": "recommended" }, { "name": "CG11196", "type": "synonym" }, { "name": "Dic3p", "type": "synonym" }, { "name": "Dic3", "type": "synonym" }, { "name": "Dmel\\CG11196", "type": "synonym" }, { "name": "Dmel_CG11196", "type": "synonym" } ], "record_id": "A1Z787-1", "evidence": [ { "id": "0060475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060475" } ] }, { "uniprot_canonical_ac": "Q9Y166-1", "uniprot_ac": "Q9Y166", "uniprot_id": "Q9Y166_DROME", "refseq_ac": "NP_001287313", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG8790-PC", "type": "synonym" }, { "name": "Dic1-PC", "type": "synonym" }, { "name": "Dicarboxylate carrier 1, isoform A", "type": "synonym" }, { "name": "Dicarboxylate carrier 1, isoform B", "type": "synonym" }, { "name": "Dicarboxylate carrier 1, isoform C", "type": "synonym" }, { "name": "dicarboxylate carrier 1, isoform C", "type": "synonym" } ], "gene_names": [ { "name": "Dic1", "type": "recommended" }, { "name": "BcDNA:GH02431", "type": "synonym" }, { "name": "CG8790", "type": "synonym" }, { "name": "Dic1", "type": "synonym" }, { "name": "DmDic1p", "type": "synonym" }, { "name": "Dmel\\CG8790", "type": "synonym" }, { "name": "Dmel_CG8790", "type": "synonym" } ], "record_id": "Q9Y166-1", "evidence": [ { "id": "0060475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060475" } ] }, { "uniprot_canonical_ac": "Q9VSR7-1", "uniprot_ac": "Q9VSR7", "uniprot_id": "Q9VSR7_DROME", "refseq_ac": "NP_001286988", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "valine--tRNA ligase", "type": "recommended" }, { "name": "6.1.1.9", "type": "synonym" }, { "name": "CG5660-PB", "type": "synonym" }, { "name": "ValRS-m-PB", "type": "synonym" }, { "name": "Valyl-tRNA synthetase, mitochondrial, isoform B", "type": "synonym" }, { "name": "Valyl-tRNA synthetase", "type": "synonym" }, { "name": "mitochondrial valyl-tRNA synthetase", "type": "synonym" } ], "gene_names": [ { "name": "ValRS-m", "type": "recommended" }, { "name": "CG5660", "type": "synonym" }, { "name": "Dmel\\CG5660", "type": "synonym" }, { "name": "Dmel_CG5660", "type": "synonym" }, { "name": "ValRS-m", "type": "synonym" } ], "record_id": "Q9VSR7-1", "evidence": [ { "id": "0060475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060475" } ] }, { "uniprot_canonical_ac": "A0A6M3Q724-1", "uniprot_ac": "A0A6M3Q724", "uniprot_id": "A0A6M3Q724_DROME", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Mitochondrial dicarboxylate carrier", "type": "recommended" } ], "gene_names": [ { "name": "Dmel\\CG6893", "type": "recommended" }, { "name": "CG6893", "type": "synonym" }, { "name": "Dmel_CG6893", "type": "synonym" } ], "record_id": "A0A6M3Q724-1", "evidence": [ { "id": "0060475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060475" } ] }, { "uniprot_canonical_ac": "Q9VDM3-1", "uniprot_ac": "Q9VDM3", "uniprot_id": "Q9VDM3_DROME", "refseq_ac": "NP_732513", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG4323-PC", "type": "synonym" }, { "name": "Dic2-PC", "type": "synonym" }, { "name": "Dicarboxylate carrier 2", "type": "synonym" }, { "name": "dicarboxylate carrier 2", "type": "synonym" } ], "gene_names": [ { "name": "Dic2", "type": "recommended" }, { "name": "CG4323", "type": "synonym" }, { "name": "Dic2", "type": "synonym" }, { "name": "DmDic2p", "type": "synonym" }, { "name": "Dmel\\CG4323", "type": "synonym" }, { "name": "Dmel_CG4323", "type": "synonym" } ], "record_id": "Q9VDM3-1", "evidence": [ { "id": "0060475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060475" } ] }, { "uniprot_canonical_ac": "Q7KU24-1", "uniprot_ac": "Q7KU24", "uniprot_id": "CHD1_DROME", "refseq_ac": "NP_477197", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "ATP-dependent chromatin remodeler Chd1", "type": "recommended" }, { "name": "3.6.4.-", "type": "synonym" }, { "name": "CG3733-PA", "type": "synonym" }, { "name": "Chd-1", "type": "synonym" }, { "name": "Chd1-PA", "type": "synonym" }, { "name": "Chromo domain-containing protein 1", "type": "synonym" }, { "name": "Chromodomain-helicase-DNA-binding protein 1, isoform A", "type": "synonym" }, { "name": "Chromodomain-helicase-DNA-binding protein", "type": "synonym" }, { "name": "chromo-ATPase/helicase-DNA-binding domain", "type": "synonym" }, { "name": "chromo-ATPase/helicase-DNA-binding protein 1", "type": "synonym" }, { "name": "lethal (2) 23Cd", "type": "synonym" } ], "gene_names": [ { "name": "Chd1", "type": "recommended" }, { "name": "2", "type": "synonym" }, { "name": "CG3733", "type": "synonym" }, { "name": "CHD-1", "type": "synonym" }, { "name": "CHD1", "type": "synonym" }, { "name": "Chd1", "type": "synonym" }, { "name": "DmCHD1", "type": "synonym" }, { "name": "Dmel\\CG3733", "type": "synonym" }, { "name": "Dmel_CG3733", "type": "synonym" }, { "name": "chd1", "type": "synonym" }, { "name": "dCHD1", "type": "synonym" }, { "name": "dChd1", "type": "synonym" }, { "name": "l(2)23Cd", "type": "synonym" } ], "record_id": "Q7KU24-1", "evidence": [ { "id": "0060475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060475" } ] }, { "uniprot_canonical_ac": "Q9NFU0-1", "uniprot_ac": "Q9NFU0", "uniprot_id": "FMR1_DROME", "refseq_ac": "NP_001303443", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Fragile X messenger ribonucleoprotein 1 homolog", "type": "recommended" }, { "name": "CG6203-PJ", "type": "synonym" }, { "name": "FMRP", "type": "synonym" }, { "name": "Fmr1-PJ", "type": "synonym" }, { "name": "Fragile-X mental retardation 1", "type": "synonym" }, { "name": "Fragile-X mental retardation protein", "type": "synonym" }, { "name": "Fragile-X-related", "type": "synonym" }, { "name": "cg 6203 gene product from transcript cg6203-rc", "type": "synonym" }, { "name": "dFMR1", "type": "synonym" }, { "name": "dFMR", "type": "synonym" }, { "name": "dFmr1", "type": "synonym" }, { "name": "drosophila fragile X mental retardation protein", "type": "synonym" }, { "name": "fragile X mental retardation 1", "type": "synonym" }, { "name": "fragile X mental retardation gene", "type": "synonym" }, { "name": "fragile X mental retardation protein 1", "type": "synonym" }, { "name": "fragile X mental retardation protein", "type": "synonym" }, { "name": "fragile X mental retardation related 1", "type": "synonym" }, { "name": "fragile X messenger ribonucleoprotein 1, isoform J", "type": "synonym" }, { "name": "fragile X protein", "type": "synonym" }, { "name": "fragile X related protein", "type": "synonym" }, { "name": "fragile X retardation 1 protein", "type": "synonym" }, { "name": "fragile X-related", "type": "synonym" }, { "name": "fragile x related", "type": "synonym" }, { "name": "fragile-X", "type": "synonym" } ], "gene_names": [ { "name": "Fmr1", "type": "recommended" }, { "name": "AT24755", "type": "synonym" }, { "name": "BcDNA:GM08679", "type": "synonym" }, { "name": "CG6203", "type": "synonym" }, { "name": "DFMRP", "type": "synonym" }, { "name": "DFmr1", "type": "synonym" }, { "name": "Dfmr", "type": "synonym" }, { "name": "Dmel\\CG6203", "type": "synonym" }, { "name": "Dmel_CG6203", "type": "synonym" }, { "name": "EP(3)3517", "type": "synonym" }, { "name": "FMR1", "type": "synonym" }, { "name": "FMRP", "type": "synonym" }, { "name": "FMRp", "type": "synonym" }, { "name": "FMR", "type": "synonym" }, { "name": "FXR", "type": "synonym" }, { "name": "Fmr1", "type": "synonym" }, { "name": "Fmrp", "type": "synonym" }, { "name": "cg6203", "type": "synonym" }, { "name": "dFMR1", "type": "synonym" }, { "name": "dFMRP", "type": "synonym" }, { "name": "dFMR", "type": "synonym" }, { "name": "dFXR1", "type": "synonym" }, { "name": "dFXRP", "type": "synonym" }, { "name": "dFXR", "type": "synonym" }, { "name": "dFmr1", "type": "synonym" }, { "name": "dFmrp", "type": "synonym" }, { "name": "dfmr1", "type": "synonym" }, { "name": "dfmr", "type": "synonym" }, { "name": "dfxr1", "type": "synonym" }, { "name": "dfxr", "type": "synonym" }, { "name": "dmfr1", "type": "synonym" }, { "name": "fmr1", "type": "synonym" }, { "name": "fmr", "type": "synonym" } ], "record_id": "Q9NFU0-1", "evidence": [ { "id": "0060475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060475" } ] }, { "uniprot_canonical_ac": "Q9W213-1", "uniprot_ac": "Q9W213", "uniprot_id": "Q9W213_DROME", "refseq_ac": "NP_476899", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG13521-PA", "type": "synonym" }, { "name": "Roundabout 1, isoform A", "type": "synonym" }, { "name": "Roundabout 1, isoform C", "type": "synonym" }, { "name": "robo1-PA", "type": "synonym" }, { "name": "roundabout 1, isoform A", "type": "synonym" }, { "name": "roundabout 1", "type": "synonym" }, { "name": "roundabout", "type": "synonym" } ], "gene_names": [ { "name": "robo1", "type": "recommended" }, { "name": "BEST:GM07780", "type": "synonym" }, { "name": "CG13521", "type": "synonym" }, { "name": "CT32892", "type": "synonym" }, { "name": "D-Robo1", "type": "synonym" }, { "name": "Dmel\\CG13521", "type": "synonym" }, { "name": "Dmel_CG13521", "type": "synonym" }, { "name": "ROBO", "type": "synonym" }, { "name": "Robo-1", "type": "synonym" }, { "name": "Robo1", "type": "synonym" }, { "name": "Robo", "type": "synonym" }, { "name": "dRobo1", "type": "synonym" }, { "name": "dRobo", "type": "synonym" }, { "name": "robo-1", "type": "synonym" }, { "name": "robo1S", "type": "synonym" }, { "name": "robo1", "type": "synonym" }, { "name": "robo", "type": "synonym" }, { "name": "roundabout", "type": "synonym" } ], "record_id": "Q9W213-1", "evidence": [ { "id": "0060475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060475" } ] }, { "uniprot_canonical_ac": "P11712-1", "uniprot_ac": "P11712", "uniprot_id": "CP2C9_HUMAN", "refseq_ac": "NP_000762", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Cytochrome P450 2C9", "type": "recommended" }, { "name": "(R)-limonene 6-monooxygenase", "type": "synonym" }, { "name": "(S)-limonene 6-monooxygenase", "type": "synonym" }, { "name": "(S)-limonene 7-monooxygenase", "type": "synonym" }, { "name": "1.14.14.1", "type": "synonym" }, { "name": "1.14.14.51", "type": "synonym" }, { "name": "1.14.14.52", "type": "synonym" }, { "name": "1.14.14.53", "type": "synonym" }, { "name": "CYPIIC9", "type": "synonym" }, { "name": "Cholesterol 25-hydroxylase", "type": 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"type": "synonym" }, { "name": "roundabout-like protein 3", "type": "synonym" } ], "gene_names": [ { "name": "ROBO3", "type": "recommended" }, { "name": "HGPPS1", "type": "synonym" }, { "name": "HGPPS", "type": "synonym" }, { "name": "HGPS", "type": "synonym" }, { "name": "RBIG1", "type": "synonym" }, { "name": "RIG1", "type": "synonym" }, { "name": "ROBO3", "type": "synonym" } ], "record_id": "Q96MS0-1", "evidence": [ { "id": "0060475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060475" } ] }, { "uniprot_canonical_ac": "Q9Y6N7-1", "uniprot_ac": "Q9Y6N7", "uniprot_id": "ROBO1_HUMAN", "refseq_ac": "NP_001139317", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Roundabout homolog 1", "type": "recommended" }, { "name": "Deleted in U twenty twenty", "type": "synonym" }, { "name": "H-Robo-1", "type": "synonym" 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