{ "disease_id": "DOID:0060536", "recommended_name": { "id": "DOID:0060536", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060536", "name": "mitochondrial complex I deficiency", "description": "A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded." }, "synonyms": [ { "id": "DOID:0060536", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060536", "name": "isolated mitochondrial respiratory chain complex I deficiency", "description": "" }, { "id": "DOID:0060536", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060536", "name": "isolated NADH-CoQ reductase deficiency", "description": "" }, { "id": "DOID:0060536", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060536", "name": "isolated NADH-coenzyme Q reductase deficiency", "description": "" }, { "id": "DOID:0060536", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060536", "name": "isolated NADH-ubiquinone reductase deficiency", "description": "" } ], "children": [ { "id": "DOID:0112065", "label": "nuclear type mitochondrial complex I deficiency", "link_status": true, "children": [ { "id": "DOID:0112066", "label": "nuclear type mitochondrial complex I deficiency 6", "link_status": true, "children": [] }, { "id": "DOID:0112067", "label": "nuclear type mitochondrial complex I deficiency 25", "link_status": true, "children": [] }, { "id": "DOID:0112068", "label": "nuclear type mitochondrial complex I deficiency 5", "link_status": true, "children": [] }, { "id": "DOID:0112069", "label": "nuclear type mitochondrial complex I deficiency 22", "link_status": true, "children": [] }, { "id": "DOID:0112070", "label": "nuclear type mitochondrial complex I deficiency 18", "link_status": true, "children": [] }, { "id": "DOID:0112071", "label": "nuclear type mitochondrial complex I deficiency 31", "link_status": true, "children": [] }, { "id": "DOID:0112072", "label": "nuclear type mitochondrial complex I deficiency 20", "link_status": true, "children": [] }, { "id": "DOID:0112073", "label": "nuclear type mitochondrial complex I deficiency 9", "link_status": true, "children": [] }, { "id": "DOID:0112074", "label": "nuclear type mitochondrial complex I deficiency 1", "link_status": true, "children": [] }, { "id": "DOID:0112075", "label": "nuclear type mitochondrial complex I deficiency 10", "link_status": true, "children": [] }, { "id": "DOID:0112076", "label": "nuclear type mitochondrial complex I deficiency 13", "link_status": true, "children": [] }, { "id": "DOID:0112077", "label": "nuclear type mitochondrial complex I deficiency 15", "link_status": true, "children": [] }, { "id": "DOID:0112078", "label": "nuclear type mitochondrial complex I deficiency 17", "link_status": true, "children": [] }, { "id": "DOID:0112079", "label": "nuclear type mitochondrial complex I deficiency 24", "link_status": true, "children": [] }, { "id": "DOID:0112080", "label": "nuclear type mitochondrial complex I deficiency 32", "link_status": true, "children": [] }, { "id": "DOID:0112081", "label": "nuclear type mitochondrial complex I deficiency 8", "link_status": true, "children": [] }, { "id": "DOID:0112082", "label": "nuclear type mitochondrial complex I deficiency 4", "link_status": true, "children": [] }, { "id": "DOID:0112083", "label": "nuclear type mitochondrial complex I deficiency 2", "link_status": true, "children": [] }, { "id": "DOID:0112084", "label": "nuclear type mitochondrial complex I deficiency 29", "link_status": true, "children": [] }, { "id": "DOID:0112085", "label": "nuclear type mitochondrial complex I deficiency 19", "link_status": true, "children": [] }, { "id": "DOID:0112086", "label": "nuclear type mitochondrial complex I deficiency 26", "link_status": true, "children": [] }, { "id": "DOID:0112087", "label": "nuclear type mitochondrial complex I deficiency 23", "link_status": true, "children": [] }, { "id": "DOID:0112088", "label": "nuclear type mitochondrial complex I deficiency 21", "link_status": true, "children": [] }, { "id": "DOID:0112089", "label": "nuclear type mitochondrial complex I deficiency 11", "link_status": true, "children": [] }, { "id": "DOID:0112090", "label": "nuclear type mitochondrial complex I deficiency 27", "link_status": true, "children": [] }, { "id": "DOID:0112091", "label": "nuclear type mitochondrial complex I deficiency 34", "link_status": true, "children": [] }, { "id": "DOID:0112092", "label": "nuclear type mitochondrial complex I deficiency 7", "link_status": true, "children": [] }, { "id": "DOID:0112093", "label": "nuclear type mitochondrial complex I deficiency 3", "link_status": true, "children": [] }, { "id": "DOID:0112094", "label": "nuclear type mitochondrial complex I deficiency 14", "link_status": true, "children": [] }, { "id": "DOID:0112095", "label": "nuclear type mitochondrial complex I deficiency 28", "link_status": true, "children": [] }, { "id": "DOID:0112096", "label": "nuclear type mitochondrial complex I deficiency 16", "link_status": true, "children": [] }, { "id": "DOID:0112097", "label": "nuclear type mitochondrial complex I deficiency 33", "link_status": true, "children": [] }, { "id": "DOID:0112098", "label": "nuclear type mitochondrial complex I deficiency 30", "link_status": true, "children": [] }, { "id": "DOID:0112099", "label": "nuclear type mitochondrial complex I deficiency 12", "link_status": true, "children": [] } ] }, { "id": "DOID:0112100", "label": "mitochondrial type mitochondrial complex I deficiency", "link_status": false, "children": [ { "id": "DOID:0112101", "label": "mitochondrial type mitochondrial complex I deficiency 1", "link_status": true, "children": [] } ] }, { "id": "DOID:0112139", "label": "nuclear type mitochondrial complex I deficiency 35", "link_status": true, "children": [] } ], "id_list": [ "DOID:0112077", "DOID:0112088", "DOID:0112098", "DOID:0112089", "DOID:0112092", "DOID:0112083", "DOID:0112076", "DOID:0112066", "DOID:0112081", "DOID:0112101", "DOID:0112065", "DOID:0112082", "DOID:0112086", "DOID:0112090", "DOID:0112071", "DOID:0112075", "DOID:0112087", "DOID:0112097", "DOID:0112096", "DOID:0112079", "DOID:0112073", "DOID:0112072", "DOID:0112078", "DOID:0112085", "DOID:0112100", "DOID:0112091", "DOID:0112067", "DOID:0112094", "DOID:0060536", "DOID:0112068", "DOID:0112070", "DOID:0112093", "DOID:0112099", "DOID:0112139", "DOID:0112074", "DOID:0112069", "DOID:0112080", "DOID:0112095", "DOID:0112084" ], "unlinked_id_list": [ "DOID:0112100" ], "crossref": [ { "id": "DOID:0060536", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060536", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "Q502E4-1", "uniprot_ac": "Q502E4", "uniprot_id": "Q502E4_DANRE", "refseq_ac": "NP_001018512", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial", "type": "recommended" }, { "name": "NADH dehydrogenase (ubiquinone) Fe-S protein 4, (NADH-coenzyme Q reductase)", "type": "synonym" }, { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial", "type": "synonym" } ], "gene_names": [ { "name": "ndufs4", "type": "recommended" }, { "name": "ndufs4", "type": "synonym" }, { "name": "zgc:112289", "type": "synonym" } ], "record_id": "Q502E4-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "B8A5G9-1", "uniprot_ac": "B8A5G9", "uniprot_id": "TRM5_DANRE", "refseq_ac": "NP_001139055", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "tRNA (guanine(37)-N(1))-methyltransferase", "type": "recommended" }, { "name": "2.1.1.228", "type": "synonym" }, { "name": "M1G-methyltransferase", "type": "synonym" }, { "name": "TRM5 tRNA methyltransferase 5 homolog", "type": "synonym" }, { "name": "tRNA (guanine(37)-N(1))-methyltransferase", "type": "synonym" }, { "name": "tRNA (guanine-N(1)-)-methyltransferase", "type": "synonym" }, { "name": "tRNA [GM37] methyltransferase", "type": "synonym" }, { "name": "tRNA methyltransferase 5 homolog", "type": "synonym" } ], "gene_names": [ { "name": "trmt5", "type": "recommended" }, { "name": "si:ch211-202m24.6", "type": "synonym" }, { "name": "trm5", "type": "synonym" }, { "name": "trmt5", "type": "synonym" }, { "name": "wu:fi28b08", "type": "synonym" } ], "record_id": "B8A5G9-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "F1QQ42-1", "uniprot_ac": "F1QQ42", "uniprot_id": "F1QQ42_DANRE", "refseq_ac": "NP_001002153", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1", "type": "recommended" }, { "name": "Complex I-MWFE", "type": "synonym" }, { "name": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1", "type": "synonym" }, { "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1 precursor", "type": "synonym" }, { "name": "NADH-ubiquinone oxidoreductase MWFE subunit", "type": "synonym" } ], "gene_names": [ { "name": "ndufa1", "type": "recommended" }, { "name": "ndufa1", "type": "synonym" }, { "name": "zgc:86674", "type": "synonym" } ], "record_id": "F1QQ42-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "P52503-1", "uniprot_ac": "P52503", "uniprot_id": "NDUS6_MOUSE", "refseq_ac": "NP_035018", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial", "type": "recommended" }, { "name": "CI-13kD-A", "type": "synonym" }, { "name": "Complex I-13kD-A", "type": "synonym" }, { "name": "NADH dehydrogenase (ubiquinone) Fe-S protein 6", "type": "synonym" }, { "name": "NADH dehydrogenase Fe-S protein 6", "type": "synonym" }, { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial isoform 1 precursor", "type": "synonym" }, { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial", "type": "synonym" }, { "name": "NADH-ubiquinone oxidoreductase 13 kDa-A subunit", "type": "synonym" }, { "name": "complex I-13kD-A", "type": "synonym" } ], "gene_names": [ { "name": "Ndufs6", "type": "recommended" }, { "name": "IP13", "type": "synonym" }, { "name": "Ip13", "type": "synonym" }, { "name": "Ndufs6", "type": "synonym" } ], "record_id": "P52503-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "Q9CXZ1-1", "uniprot_ac": "Q9CXZ1", "uniprot_id": "NDUS4_MOUSE", "refseq_ac": "NP_035017", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial", "type": "recommended" }, { "name": "CI-18 kDa", "type": "synonym" }, { "name": "CI-AQDQ", "type": "synonym" }, { "name": "Complex I-18 kDa", "type": "synonym" }, { "name": "Complex I-AQDQ", "type": "synonym" }, { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial", "type": "synonym" }, { "name": "NADH-ubiquinone oxidoreductase 18 kDa subunit", "type": "synonym" }, { "name": "complex I-18 kDa", "type": "synonym" }, { "name": "complex I-AQDQ", "type": "synonym" } ], "gene_names": [ { "name": "Ndufs4", "type": "recommended" }, { "name": "6720411N02Rik", "type": "synonym" }, { "name": "C1-18k", "type": "synonym" }, { "name": "Ndufs4", "type": "synonym" } ], "record_id": "Q9CXZ1-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "Q9Z0X1-1", "uniprot_ac": "Q9Z0X1", "uniprot_id": "AIFM1_MOUSE", "refseq_ac": "NP_001277293", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Apoptosis-inducing factor 1, mitochondrial", "type": "recommended" }, { "name": "1.6.99.-", "type": "synonym" }, { "name": "Programmed cell death protein 8", "type": "synonym" }, { "name": "apoptosis-inducing factor 1, mitochondrial isoform 2", "type": "synonym" }, { "name": "apoptosis-inducing factor 1, mitochondrial", "type": "synonym" }, { "name": "harlequin", "type": "synonym" }, { "name": "programmed cell death protein 8", "type": "synonym" } ], "gene_names": [ { "name": "Aifm1", "type": "recommended" }, { "name": "AIFsh2", "type": "synonym" }, { "name": "AIF", "type": "synonym" }, { "name": "Aifm1", "type": "synonym" }, { "name": "Aif", "type": "synonym" }, { "name": "Hq", "type": "synonym" }, { "name": "Pdcd8", "type": "synonym" } ], "record_id": "Q9Z0X1-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "O35683-1", "uniprot_ac": "O35683", "uniprot_id": "NDUA1_MOUSE", "refseq_ac": "NP_062316", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1", "type": "recommended" }, { "name": "CI-MWFE", "type": "synonym" }, { "name": "Complex I-MWFE", "type": "synonym" }, { "name": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)", "type": "synonym" }, { "name": "NADH dehydrogenase 1 alpha subcomplex, 1", "type": "synonym" }, { "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1", "type": "synonym" }, { "name": "NADH ubiquinone oxidoreductase subunit MWFE", "type": "synonym" }, { "name": "NADH-ubiquinone oxidoreductase MWFE subunit", "type": "synonym" }, { "name": "complex I-MWFE", "type": "synonym" } ], "gene_names": [ { "name": "Ndufa1", "type": "recommended" }, { "name": "1810049F12Rik", "type": "synonym" }, { "name": "MWFE", "type": "synonym" }, { "name": "Ndufa1", "type": "synonym" } ], "record_id": "O35683-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "Q91VD9-1", "uniprot_ac": "Q91VD9", "uniprot_id": "NDUS1_MOUSE", "refseq_ac": "NP_001153510", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial", "type": "recommended" }, { "name": "7.1.1.2", "type": "synonym" }, { "name": "CI-75kD", "type": "synonym" }, { "name": "Complex I-75kD", "type": "synonym" }, { "name": "NADH dehydrogenase (ubiquinone) Fe-S protein 1", "type": "synonym" }, { "name": "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial precursor", "type": "synonym" }, { "name": "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial", "type": "synonym" }, { "name": "complex I-75kD", "type": "synonym" } ], "gene_names": [ { "name": "Ndufs1", "type": "recommended" }, { "name": "5830412M15Rik", "type": "synonym" }, { "name": "9930026A05Rik", "type": "synonym" }, { "name": "Ndufs1", "type": "synonym" } ], "record_id": "Q91VD9-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "Q91YT0-1", "uniprot_ac": "Q91YT0", "uniprot_id": "NDUV1_MOUSE", "refseq_ac": "NP_598427", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial", "type": "recommended" }, { "name": "24 kDa (FP)", "type": "synonym" }, { "name": "7.1.1.2", "type": "synonym" }, { "name": "CI-51kD", "type": "synonym" }, { "name": "Complex I-51kD", "type": "synonym" }, { "name": "NADH dehydrogenase (ubiquinone) flavoprotein 1", "type": "synonym" }, { "name": "NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial precursor", "type": "synonym" }, { "name": "NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial", "type": "synonym" }, { "name": "NADH dehydrogenase flavoprotein 1", "type": "synonym" }, { "name": "NADH-ubiquinone oxidoreductase 51 kDa subunit", "type": "synonym" }, { "name": "NDUFV1", "type": "synonym" }, { "name": "complex I-51kD", "type": "synonym" } ], "gene_names": [ { "name": "Ndufv1", "type": "recommended" }, { "name": "CI-51kD", "type": "synonym" }, { "name": "Ndufv1", "type": "synonym" } ], "record_id": "Q91YT0-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "Q9DC70-1", "uniprot_ac": "Q9DC70", "uniprot_id": "NDUS7_MOUSE", "refseq_ac": "NP_083548", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial", "type": "recommended" }, { "name": "7.1.1.2", "type": "synonym" }, { "name": "CI-20kD", "type": "synonym" }, { "name": "Complex I-20kD", "type": "synonym" }, { "name": "NADH dehydrogenase (ubiquinone) Fe-S protein 7", "type": "synonym" }, { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial isoform 1 precursor", "type": "synonym" }, { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial", "type": "synonym" }, { "name": "NADH-ubiquinone oxidoreductase 20 kDa subunit", "type": "synonym" }, { "name": "complex I-20kD", "type": "synonym" } ], "gene_names": [ { "name": "Ndufs7", "type": "recommended" }, { "name": "1010001M04Rik", "type": "synonym" }, { "name": "CI-20kD", "type": "synonym" }, { "name": "Ndufs7", "type": "synonym" } ], "record_id": "Q9DC70-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "Q91WD5-1", "uniprot_ac": "Q91WD5", "uniprot_id": "NDUS2_MOUSE", "refseq_ac": "NP_694704", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial", "type": "recommended" }, { "name": "7.1.1.2", "type": "synonym" }, { "name": "CI-49kD", "type": "synonym" }, { "name": "Complex I-49kD", "type": "synonym" }, { "name": "NADH dehydrogenase (ubiquinone) Fe-S protein 2", "type": "synonym" }, { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial isoform 1", "type": "synonym" }, { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial", "type": "synonym" }, { "name": "NADH-coenzyme Q reductase", "type": "synonym" }, { "name": "NADH-ubiquinone oxidoreductase 49 kDa subunit", "type": "synonym" }, { "name": "complex I-49kD", "type": "synonym" } ], "gene_names": [ { "name": "Ndufs2", "type": "recommended" }, { "name": "CI-49kD", "type": "synonym" }, { "name": "Ndufs2", "type": "synonym" } ], "record_id": "Q91WD5-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "Q9D0C4-1", "uniprot_ac": "Q9D0C4", "uniprot_id": "TRM5_MOUSE", "refseq_ac": "NP_083856", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "tRNA (guanine(37)-N(1))-methyltransferase", "type": "recommended" }, { "name": "2.1.1.228", "type": "synonym" }, { "name": "M1G-methyltransferase", "type": "synonym" }, { "name": "TRM5 tRNA methyltransferase 5 homolog", "type": "synonym" }, { "name": "tRNA (guanine(37)-N(1))-methyltransferase isoform 1", "type": "synonym" }, { "name": "tRNA (guanine(37)-N(1))-methyltransferase", "type": "synonym" }, { "name": "tRNA (guanine(37)-N1)-methyltransferase", "type": "synonym" }, { "name": "tRNA (guanine-N(1)-)-methyltransferase", "type": "synonym" }, { "name": "tRNA [GM37] methyltransferase", "type": "synonym" }, { "name": "tRNA methyltransferase 5 homolog", "type": "synonym" } ], "gene_names": [ { "name": "Trmt5", "type": "recommended" }, { "name": "2610027O18Rik", "type": "synonym" }, { "name": "Kiaa1393", "type": "synonym" }, { "name": "Trm5", "type": "synonym" }, { "name": "Trmt5", "type": "synonym" }, { "name": "mKIAA1393", "type": "synonym" } ], "record_id": "Q9D0C4-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "Q80Y81-1", "uniprot_ac": "Q80Y81", "uniprot_id": "RNZ2_MOUSE", "refseq_ac": "NP_075968", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Zinc phosphodiesterase ELAC 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"synonym" } ], "record_id": "Q80Y81-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "Q9QZD8-1", "uniprot_ac": "Q9QZD8", "uniprot_id": "DIC_MOUSE", "refseq_ac": "NP_038798", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Mitochondrial dicarboxylate carrier", "type": "recommended" }, { "name": "DIC", "type": "synonym" }, { "name": "Solute carrier family 25 member 10", "type": "synonym" }, { "name": "adenine nucleotide translocator), member 10", "type": "synonym" }, { "name": "dicarboxylate ion carrier", "type": "synonym" }, { "name": "mitochondrial dicarboxylate carrier", "type": "synonym" }, { "name": "solute carrier family 25 (mitochondrial carrier", "type": "synonym" }, { "name": "solute carrier family 25 member 10", "type": 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endonuclease", "type": "synonym" }, { "name": "tRNase Z", "type": "synonym" } ], "gene_names": [ { "name": "TRZ1", "type": "recommended" }, { "name": "TRZ1", "type": "synonym" } ], "record_id": "P36159-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "P36046-1", "uniprot_ac": "P36046", "uniprot_id": "MIA40_YEAST", "refseq_ac": "NP_012726", "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": "Mitochondrial intermembrane space import and assembly protein 40", "type": "recommended" }, { "name": "Mia40p", "type": "synonym" }, { "name": "Mitochondrial import inner membrane translocase TIM40", "type": "synonym" } ], "gene_names": [ { "name": "MIA40", "type": "recommended" }, { "name": "FMP15", "type": "synonym" }, { "name": "MIA40", "type": "synonym" }, { "name": "TIM40", "type": "synonym" } ], "record_id": "P36046-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "Q06143-1", "uniprot_ac": "Q06143", "uniprot_id": "DIC1_YEAST", "refseq_ac": "NP_013452", "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": "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": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "P25345-1", "uniprot_ac": "P25345", "uniprot_id": "SYNM_YEAST", "refseq_ac": "NP_009953", "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": "Asparagine--tRNA ligase, mitochondrial", "type": "recommended" }, { "name": "6.1.1.22", "type": "synonym" }, { "name": "AsnRS", "type": "synonym" }, { "name": "Asparaginyl-tRNA synthetase", "type": "synonym" }, { "name": "asparagine--tRNA ligase SLM5", "type": "synonym" } ], "gene_names": [ { "name": "SLM5", "type": "recommended" }, { "name": "SLM5", "type": "synonym" }, { "name": "YCR242", "type": "synonym" }, { "name": "YCR24C", "type": "synonym" } ], "record_id": "P25345-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "P38793-1", "uniprot_ac": "P38793", "uniprot_id": "TRM5_YEAST", "refseq_ac": "NP_011937", "glycoprotein": "yes", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "tRNA (guanine(37)-N(1))-methyltransferase", "type": "recommended" }, { "name": "2.1.1.228", "type": "synonym" }, { "name": "M1G-methyltransferase", "type": "synonym" }, { "name": "tRNA (guanine) methyltransferase", "type": "synonym" }, { "name": "tRNA [GM37] methyltransferase", "type": "synonym" }, { "name": "tRNA methyltransferase 5", "type": "synonym" } ], "gene_names": [ { "name": "TRM5", "type": "recommended" }, { "name": "TRM5", "type": "synonym" } ], "record_id": "P38793-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "Q66HF1-1", "uniprot_ac": "Q66HF1", "uniprot_id": "NDUS1_RAT", "refseq_ac": "NP_001005550", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial", "type": "recommended" }, { "name": "7.1.1.2", "type": "synonym" }, { "name": "NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa", "type": "synonym" }, { "name": "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial precursor", "type": "synonym" }, { "name": "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial", "type": "synonym" } ], "gene_names": [ { "name": "Ndufs1", "type": "recommended" }, { "name": "Ndufs1", "type": "synonym" } ], "record_id": "Q66HF1-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "Q5XIF3-1", "uniprot_ac": "Q5XIF3", "uniprot_id": "NDUS4_RAT", "refseq_ac": "NP_001020317", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial", "type": "recommended" }, { "name": "CI-18 kDa", "type": "synonym" }, { "name": "Complex I-18 kDa", "type": "synonym" }, { "name": "NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)", "type": "synonym" }, { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial precursor", "type": "synonym" }, { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial", "type": "synonym" }, { "name": "NADH-ubiquinone oxidoreductase 18 kDa subunit", "type": "synonym" }, { "name": "complex I-18 kDa", "type": "synonym" } ], "gene_names": [ { "name": "Ndufs4", "type": "recommended" }, { "name": "Aqdq", "type": "synonym" }, { "name": "Ndufs4", "type": "synonym" } ], "record_id": "Q5XIF3-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "Q5XIH3-1", "uniprot_ac": "Q5XIH3", "uniprot_id": "Q5XIH3_RAT", "refseq_ac": "NP_001006973", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial", "type": "recommended" }, { "name": "7.1.1.2", "type": "synonym" }, { "name": "NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa", "type": "synonym" }, { "name": "NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial", "type": "synonym" } ], "gene_names": 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"https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "Q641Y2-1", "uniprot_ac": "Q641Y2", "uniprot_id": "NDUS2_RAT", "refseq_ac": "NP_001011907", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial", "type": "recommended" }, { "name": "7.1.1.2", "type": "synonym" }, { "name": "CI-49kD", "type": "synonym" }, { "name": "Complex I-49kD", "type": "synonym" }, { "name": "NADH dehydrogenase (ubiquinone) Fe-S protein 2", "type": "synonym" }, { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial precursor", "type": "synonym" }, { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial-like", "type": "synonym" }, { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, 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"synonym" }, { "name": "tRNA [GM37] methyltransferase", "type": "synonym" }, { "name": "tRNA methyltransferase 5 homolog", "type": "synonym" } ], "gene_names": [ { "name": "Trmt5", "type": "recommended" }, { "name": "RGD1306567", "type": "synonym" }, { "name": "TRM5", "type": "synonym" }, { "name": "TRMT5", "type": "synonym" }, { "name": "Trmt5", "type": "synonym" } ], "record_id": "A0A0G2JU45-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "O89035-1", "uniprot_ac": "O89035", "uniprot_id": "DIC_RAT", "refseq_ac": "NP_596909", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Mitochondrial dicarboxylate carrier", "type": "recommended" }, { "name": "DIC", "type": "synonym" }, { "name": "Solute carrier family 25 member 10", "type": 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} ], "protein_names": [ { "name": "Asparaginyl-tRNA synthetase", "type": "recommended" }, { "name": "6.1.1.22", "type": "synonym" }, { "name": "Asparagine--tRNA ligase, mitochondrial", "type": "synonym" }, { "name": "Nars2, similar to CG6796-PA", "type": "synonym" }, { "name": "asparaginyl-tRNA synthetase 2 (mitochondrial)(putative)", "type": "synonym" }, { "name": "asparaginyl-tRNA synthetase isoform 1", "type": "synonym" }, { "name": "probable asparagine--tRNA ligase, mitochondrial", "type": "synonym" }, { "name": "probable asparaginyl-tRNA synthetase, mitochondrial", "type": "synonym" } ], "gene_names": [ { "name": "Nars2", "type": "recommended" }, { "name": "Nars2", "type": "synonym" }, { "name": "RGD1305145", "type": "synonym" } ], "record_id": "A0A8I6A5J1-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "Q9JM53-1", "uniprot_ac": "Q9JM53", "uniprot_id": "AIFM1_RAT", "refseq_ac": 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"Aif", "type": "synonym" }, { "name": "Pdcd8", "type": "synonym" } ], "record_id": "Q9JM53-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "P52504-1", "uniprot_ac": "P52504", "uniprot_id": "NDUS6_RAT", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial", "type": "recommended" }, { "name": "CI-13kD-A", "type": "synonym" }, { "name": "Complex I-13kD-A", "type": "synonym" }, { "name": "NADH-ubiquinone oxidoreductase 13 kDa-A subunit", "type": "synonym" } ], "gene_names": [ { "name": "Ndufs6-ps1", "type": "recommended" }, { "name": "Ndufs6", "type": "recommended" }, { "name": "Ip13", "type": "synonym" } ], "record_id": "P52504-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "D3ZCZ9-1", "uniprot_ac": "D3ZCZ9", "uniprot_id": "D3ZCZ9_RAT", "refseq_ac": "NP_001410618", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial", "type": "recommended" }, { "name": "NADH dehydrogenase (ubiquinone) Fe-S protein 6", "type": "synonym" }, { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial-like", "type": "synonym" }, { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial", "type": "synonym" }, { "name": "NADH:ubiquinone oxidoreductase subunit S6-like 1", "type": "synonym" } ], "gene_names": [ { "name": "Ndufs6", "type": "recommended" }, { "name": "LOC679739", "type": "synonym" }, { "name": "Ndufs6l1", "type": "synonym" }, { "name": "Ndufs6", "type": "synonym" } ], "record_id": "D3ZCZ9-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "Q94511-1", "uniprot_ac": "Q94511", "uniprot_id": "NDUS1_DROME", "refseq_ac": "NP_511083", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial", "type": "recommended" }, { "name": "7.1.1.2", "type": "synonym" }, { "name": "CG2286-PA", "type": "synonym" }, { "name": "CI-75kD", "type": "synonym" }, { "name": "Complex I-75kD", "type": "synonym" }, { "name": "FBpp0071128", "type": "synonym" }, { "name": "NADH dehydrogenase (ubiquinone) 75 kDa subunit, isoform A", "type": "synonym" }, { "name": "NADH ubiquinone oxidoreductase 75 kDa", "type": "synonym" }, { "name": "NADH-ubiquinone oxidoreductase 75 kDa subunit", "type": "synonym" }, { "name": "NADH:ubiquinone oxidoreductase 75 kDa subunit", "type": "synonym" }, { "name": "NADH:ubiquinone reductase 75 kDa subunit", "type": "synonym" }, { "name": "NADH:ubiquinone reductase 75-kD subunit precursor", "type": "synonym" }, { "name": "NADH:ubiquinone reductase 75kD subunit precursor", "type": "synonym" }, { "name": "ND-75-PA", "type": "synonym" } ], "gene_names": [ { "name": "ND-75", "type": "recommended" }, { "name": "CG2286", "type": "synonym" }, { "name": "Dmel\\CG2286", "type": "synonym" }, { "name": "Dmel_CG2286", "type": "synonym" }, { "name": "ND-75", "type": "synonym" }, { "name": "ND75", "type": "synonym" }, { "name": "NDUFS1", "type": "synonym" }, { "name": "NDUS1", "type": "synonym" }, { "name": "NUAM", "type": "synonym" }, { "name": "dNDUFS1", "type": "synonym" } ], "record_id": "Q94511-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "A1Z9Z7-1", "uniprot_ac": "A1Z9Z7", "uniprot_id": "A1Z9Z7_DROME", "refseq_ac": "NP_725449", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG8102-PA", "type": "synonym" }, { "name": "NADH dehydrogenase (Ubiquinone) 51 kDa subunit-like 2, isoform A", "type": "synonym" }, { "name": "NADH dehydrogenase (ubiquinone) 51 kDa subunit-like 2, isoform A", "type": "synonym" }, { "name": "NADH-UBIQUINONE OXIDOREDUCTASE 51 KDA SUBUNIT", "type": "synonym" }, { "name": "NADH:ubiquinone oxidoreductase 51 kDa subunit", "type": "synonym" }, { "name": "ND-51L2-PA", "type": "synonym" } ], "gene_names": [ { "name": "ND-51L2", "type": "recommended" }, { "name": "CG8102", "type": "synonym" }, { "name": "Dmel\\CG8102", "type": "synonym" }, { "name": "Dmel_CG8102", "type": "synonym" }, { "name": "ND-51L2", "type": "synonym" }, { "name": "NUBM", "type": "synonym" }, { "name": "dNDUFV1C", "type": "synonym" } ], "record_id": "A1Z9Z7-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "Q9VBR4-1", "uniprot_ac": "Q9VBR4", "uniprot_id": "Q9VBR4_DROME", "refseq_ac": "NP_651392", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Complex I-49kD", "type": "recommended" }, { "name": "CG11913-PB", "type": "synonym" }, { "name": "NADH dehydrogenase (ubiquinone) 49 kDa subunit-like", "type": "synonym" }, { "name": "NADH-ubiquinone oxidoreductase 49 kDa subunit", "type": "synonym" }, { "name": "NADH:ubiquinone oxidoreductase 49 kDa subunit", "type": "synonym" }, { "name": "ND-49L-PB", "type": "synonym" } ], "gene_names": [ { "name": "ND-49L", "type": "recommended" }, { "name": "CG111913", "type": "synonym" }, { "name": "CG11913", "type": "synonym" }, { "name": "Dmel\\CG11913", "type": "synonym" }, { "name": "Dmel_CG11913", "type": "synonym" }, { "name": "ND-49L", "type": "synonym" }, { "name": "NUCM", "type": "synonym" }, { "name": "Q9VBR4_DROME", "type": "synonym" }, { "name": "dNDUFS2B", "type": "synonym" } ], "record_id": "Q9VBR4-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "A1ZAW7-1", "uniprot_ac": "A1ZAW7", "uniprot_id": "A1ZAW7_DROME", "refseq_ac": "NP_611238", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial", "type": "recommended" }, { "name": "CG11423-PA", "type": "synonym" }, { "name": "Complex I-51kD", "type": "synonym" }, { "name": "NADH dehydrogenase (ubiquinone) 51 kDa subunit-like 1", "type": "synonym" }, { "name": "NADH-UBIQUINONE OXIDOREDUCTASE 51 KDA SUBUNIT", "type": "synonym" }, { "name": "NADH-ubiquinone oxidoreductase 51 kDa subunit", "type": "synonym" }, { "name": "NADH:ubiquinone oxidoreductase 51 kDa subunit", "type": "synonym" }, { "name": "ND-51L1-PA", "type": "synonym" } ], "gene_names": [ { "name": "ND-51L1", "type": "recommended" }, { "name": "CG11423", "type": "synonym" }, { "name": "Dmel\\CG11423", "type": "synonym" }, { "name": "Dmel_CG11423", "type": "synonym" }, { "name": "ND-51L1", "type": "synonym" }, { "name": "ND51L1", "type": "synonym" }, { "name": "NUBM", "type": "synonym" }, { "name": "dNDUFV1B", "type": "synonym" } ], "record_id": "A1ZAW7-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "Q9VMI3-1", "uniprot_ac": "Q9VMI3", "uniprot_id": "Q9VMI3_DROME", "refseq_ac": "NP_001285657", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial", "type": "recommended" }, { "name": "(ubiquinone) 51 kDa subunit", "type": "synonym" }, { "name": "7.1.1.2", "type": "synonym" }, { "name": "CG9140-PB", "type": "synonym" }, { "name": "FBpp0078847", "type": "synonym" }, { "name": "NADH dehydrogenase (ubiquinone) 51 kDa subunit, isoform B", "type": "synonym" }, { "name": "NADH dehydrogenase", "type": "synonym" }, { "name": "NADH ubiquinone oxidoreductase 51 kDa", "type": "synonym" }, { "name": "NADH-UBIQUINONE OXIDOREDUCTASE 51 KDA SUBUNIT", "type": "synonym" }, { "name": "NADH:ubiquinone oxidoreductase 51 kDa subunit", "type": "synonym" }, { "name": "NADH:ubiquinone oxidoreductase, 51kDa subunit", "type": "synonym" }, { "name": "ND-51-PB", "type": "synonym" } ], "gene_names": [ { "name": "ND-51", "type": "recommended" }, { "name": "CG9140", "type": "synonym" }, { "name": "Dmel\\CG9140", "type": "synonym" }, { "name": "Dmel_CG9140", "type": "synonym" }, { "name": "ND-51", "type": "synonym" }, { "name": "ND51", "type": "synonym" }, { "name": "NDUFV1", "type": "synonym" }, { "name": "NUBM", "type": "synonym" }, { "name": "dNDUFV1A", "type": "synonym" }, { "name": "dNDUFV1", "type": "synonym" } ], "record_id": "Q9VMI3-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "Q9V4E0-1", "uniprot_ac": "Q9V4E0", "uniprot_id": "Q9V4E0_DROME", "refseq_ac": "NP_001259064", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Complex I-49kD", "type": "recommended" }, { "name": "CG1970-PB", "type": "synonym" }, { "name": "FBpp0088174", "type": "synonym" }, { "name": "NADH dehydrogenase (ubiquinone) 49 kDa subunit, isoform B", "type": "synonym" }, { "name": "NADH ubiquinone oxidoreductase 49 kDa", "type": "synonym" }, { "name": "NADH-ubiquinone oxidoreductase 49 kDa subunit", "type": "synonym" }, { "name": "NADH:ubiquinone oxidoreductase 49 kDa subunit", "type": "synonym" }, { "name": "ND-49-PB", "type": "synonym" } ], "gene_names": [ { "name": "ND-49", "type": "recommended" }, { "name": "CG 1970", "type": "synonym" }, { "name": "CG1970", "type": "synonym" }, { "name": "Dmel\\CG1970", "type": "synonym" }, { "name": "Dmel_CG1970", "type": "synonym" }, { "name": "ND-49", "type": "synonym" }, { "name": "NDUFS2", "type": "synonym" }, { "name": "NUCM", "type": "synonym" }, { "name": "Ndufs2", "type": "synonym" }, { "name": "dNDUFS2A", "type": "synonym" }, { "name": "dNDUFS2", "type": "synonym" } ], "record_id": "Q9V4E0-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "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": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "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": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "Q8MKW7-1", "uniprot_ac": "Q8MKW7", "uniprot_id": "RNZ_DROME", "refseq_ac": "NP_724916", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Ribonuclease Z, mitochondrial", "type": "recommended" }, { "name": "3.1.26.11", "type": "synonym" }, { "name": "CG3298-PB", "type": "synonym" }, { "name": "DmeZ", "type": "synonym" }, { "name": "Juvenile hormone-inducible protein 1", "type": "synonym" }, { "name": "RNase Z", "type": "synonym" }, { "name": "RNaseZ-PB", "type": "synonym" }, { "name": "dRNAse Z", "type": "synonym" }, { "name": "juvenile hormone-inducible protein 1", "type": "synonym" }, { "name": "ribonuclease Z", "type": "synonym" }, { "name": "tRNA 3 endonuclease", "type": "synonym" }, { "name": "tRNA 3'-processing endonuclease", "type": "synonym" }, { "name": "tRNase Z", "type": "synonym" } ], "gene_names": [ { "name": "RNaseZ", "type": "recommended" }, { "name": "CG3298", "type": "synonym" }, { "name": "Dmel\\CG3298", "type": "synonym" }, { "name": "JHI-1", "type": "synonym" }, { "name": "JhI-1", "type": "synonym" }, { "name": "RNZ", "type": "synonym" }, { "name": "RNaseZ", "type": "synonym" }, { "name": "dRNase Z", "type": "synonym" }, { "name": "dRNaseZ", "type": "synonym" }, { "name": "dtRNaseZ", "type": "synonym" }, { "name": "jhI-1", "type": "synonym" }, { "name": "tRNAse Z", "type": "synonym" }, { "name": "tRNAseZ", "type": "synonym" }, { "name": "tRNase Z[L]", "type": "synonym" }, { "name": "tRNase Z", "type": "synonym" } ], "record_id": "Q8MKW7-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "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": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "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": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "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": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "Q8IRE4-1", "uniprot_ac": "Q8IRE4", "uniprot_id": "TRM5_DROME", "refseq_ac": "NP_728821", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "tRNA (guanine(37)-N(1))-methyltransferase", "type": "recommended" }, { "name": "2.1.1.228", "type": "synonym" }, { "name": "CG32281-PA", "type": "synonym" }, { "name": "M1G-methyltransferase", "type": "synonym" }, { "name": "tRNA [GM37] methyltransferase", "type": "synonym" }, { "name": "tRNA methyltransferase 5 homolog", "type": "synonym" }, { "name": "uncharacterized protein", "type": "synonym" } ], "gene_names": [ { "name": "CG12032", "type": "synonym" }, { "name": "CG32281", "type": "synonym" }, { "name": "Dmel\\CG32281", "type": "synonym" } ], "record_id": "Q8IRE4-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "A8DYC4-1", "uniprot_ac": "A8DYC4", "uniprot_id": "A8DYC4_DROME", "refseq_ac": "NP_001097297", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1", "type": "recommended" }, { "name": "CG34439-PB", "type": "synonym" }, { "name": "Complex I-MWFE", "type": "synonym" }, { "name": "NADH dehydrogenase (ubiquinone) MWFE subunit, isoform B", "type": "synonym" }, { "name": "NADH ubiquinone oxidoreductase MWFE", "type": "synonym" }, { "name": "NADH-ubiquinone oxidoreductase MWFE subunit", "type": "synonym" }, { "name": "ND-MWFE-PB", "type": "synonym" }, { "name": "lethal (2) c00093", "type": "synonym" } ], "gene_names": [ { "name": "ND-MWFE", "type": "recommended" }, { "name": "BcDNA:RH49308", "type": "synonym" }, { "name": "CG13328", "type": "synonym" }, { "name": "CG17054", "type": "synonym" }, { "name": "CG30057", "type": "synonym" }, { "name": "CG34439", "type": "synonym" }, { "name": "Dmel\\CG34439", "type": "synonym" }, { "name": "Dmel_CG34439", "type": "synonym" }, { "name": "ND-MWFE", "type": "synonym" }, { "name": "NDUFA1", "type": "synonym" }, { "name": "dNDUFA1", "type": "synonym" }, { "name": "l(2)c00093", "type": "synonym" } ], "record_id": "A8DYC4-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "Q9VWI0-1", "uniprot_ac": "Q9VWI0", "uniprot_id": "NDUS4_DROME", "refseq_ac": "NP_573385", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial", "type": "recommended" }, { "name": "CG12203-PA", "type": "synonym" }, { "name": "FBpp0074481", "type": "synonym" }, { "name": "NADH dehydrogenase (ubiquinone) 18 kDa subunit", "type": "synonym" }, { "name": "NADH ubiquinone oxidoreductase 18 kDa", "type": "synonym" }, { "name": "NADH-ubiquinone oxidoreductase 18 kDa subunit", "type": "synonym" }, { "name": "NADH:ubiquinone oxidoreductase 18 kDa subunit", "type": "synonym" }, { "name": "ND-18-PA", "type": "synonym" } ], "gene_names": [ { "name": "ND-18", "type": "recommended" }, { "name": "CG12203", "type": "synonym" }, { "name": "Dmel\\CG12203", "type": "synonym" }, { "name": "IP11020p", "type": "synonym" }, { "name": "ND-18", "type": "synonym" }, { "name": "NDUFS4", "type": "synonym" }, { "name": "NUYM", "type": "synonym" }, { "name": "Q9VWI0", "type": "synonym" }, { "name": "dNDUFS4", "type": "synonym" } ], "record_id": "Q9VWI0-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "Q9VQ79-2", "uniprot_ac": "Q9VQ79", "uniprot_id": "AIFM1_DROME", "refseq_ac": "NP_608649", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Putative apoptosis-inducing factor 1, mitochondrial", "type": "recommended" }, { "name": "1.6.99.-", "type": "synonym" }, { "name": "AIF-PA", "type": "synonym" }, { "name": "CG7263-PA", "type": "synonym" }, { "name": "DmAIF", "type": "synonym" }, { "name": "apoptosis inducing factor, isoform A", "type": "synonym" }, { "name": "apoptosis inducing factor", "type": "synonym" } ], "gene_names": [ { "name": "AIF", "type": "recommended" }, { "name": "AIF", "type": "synonym" }, { "name": "CG7263", "type": "synonym" }, { "name": "DmAIF", "type": "synonym" }, { "name": "Dmel\\CG7263", "type": "synonym" }, { "name": "SD03428p", "type": "synonym" }, { "name": "aif", "type": "synonym" }, { "name": "dAIF", "type": "synonym" } ], "record_id": "Q9VQ79-2", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "Q9VMU0-1", "uniprot_ac": "Q9VMU0", "uniprot_id": "Q9VMU0_DROME", "refseq_ac": "NP_001285613", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial", "type": "recommended" }, { "name": "CG8680-PB", "type": "synonym" }, { "name": "NADH dehydrogenase (ubiquinone) 13 kDa A subunit, isoform B", "type": "synonym" }, { "name": "NADH ubiquinone oxidoreductase 13 kDa A", "type": "synonym" }, { "name": "NADH-ubiquinone oxidoreductase 13 kDa-A subunit", "type": "synonym" }, { "name": "NADH:ubiquinone oxidoreductase 13 kDa A subunit", "type": "synonym" }, { "name": "ND-13A-PB", "type": "synonym" } ], "gene_names": [ { "name": "ND-13A", "type": "recommended" }, { "name": "CG8680", "type": "synonym" }, { "name": "Dmel\\CG8680", "type": "synonym" }, { "name": "Dmel_CG8680", "type": "synonym" }, { "name": "ND-13A", "type": "synonym" }, { "name": "NDUFS6", "type": "synonym" }, { "name": "NUMM", "type": "synonym" }, { "name": "dNDUFS6", "type": "synonym" } ], "record_id": "Q9VMU0-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "Q9VXK7-1", "uniprot_ac": "Q9VXK7", "uniprot_id": "Q9VXK7_DROME", "refseq_ac": "NP_001285313", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Probable NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial", "type": "recommended" }, { "name": "CG9172-PC", "type": "synonym" }, { "name": "FBpp0073949", "type": "synonym" }, { "name": "NADH dehydrogenase (ubiquinone) 20 kDa subunit, isoform C", "type": "synonym" }, { "name": "NADH ubiquinone oxidoreductase 20 kDa", "type": "synonym" }, { "name": "NADH-UBIQUINONE OXIDOREDUCTASE 20 KDA SUBUNIT", "type": "synonym" }, { "name": "NADH:ubiquinone oxidoreductase 20 kDa subunit", "type": "synonym" }, { "name": "ND-20-PC", "type": "synonym" } ], "gene_names": [ { "name": "ND-20", "type": "recommended" }, { "name": "20 kDa", "type": "synonym" }, { "name": "CG9172", "type": "synonym" }, { "name": "Dmel\\CG9172", "type": "synonym" }, { "name": "Dmel_CG9172", "type": "synonym" }, { "name": "ND-20", "type": "synonym" }, { "name": "ND20", "type": "synonym" }, { "name": "NDUFS7", "type": "synonym" }, { "name": "NUKM", "type": "synonym" }, { "name": "PSST", "type": "synonym" }, { "name": "dNDUFS7A", "type": "synonym" }, { "name": "dNDUFS7", "type": "synonym" } ], "record_id": "Q9VXK7-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "O75251-1", "uniprot_ac": "O75251", "uniprot_id": "NDUS7_HUMAN", "refseq_ac": "NP_077718", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial", "type": "recommended" }, { "name": "7.1.1.2", "type": "synonym" }, { "name": "CI-20kD", "type": "synonym" }, { "name": "Complex I-20kD", "type": "synonym" }, { "name": "NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)", "type": "synonym" }, { "name": 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"O75251-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "O43181-1", "uniprot_ac": "O43181", "uniprot_id": "NDUS4_HUMAN", "refseq_ac": "NP_002486", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial", "type": "recommended" }, { "name": "CI-18 kDa", "type": "synonym" }, { "name": "CI-AQDQ", "type": "synonym" }, { "name": "Complex I-18 kDa", "type": "synonym" }, { "name": "Complex I-AQDQ", "type": "synonym" }, { "name": "NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)", "type": "synonym" }, { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial isoform 1 precursor", "type": "synonym" }, { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial", "type": "synonym" }, { "name": "NADH-ubiquinone oxidoreductase 18 kDa subunit", "type": "synonym" }, { "name": "complex I 18kDa subunit", "type": "synonym" }, { "name": "complex I-AQDQ", "type": "synonym" }, { "name": "mitochondrial respiratory chain complex I (18-KD subunit)", "type": "synonym" } ], "gene_names": [ { "name": "NDUFS4", "type": "recommended" }, { "name": "AQDQ", "type": "synonym" }, { "name": "CI-18 kDa", "type": "synonym" }, { "name": "CI-18", "type": "synonym" }, { "name": "CI-AQDQ", "type": "synonym" }, { "name": "MC1DN1", "type": "synonym" }, { "name": "NDUFS4", "type": "synonym" } ], "record_id": "O43181-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "P49821-1", "uniprot_ac": "P49821", "uniprot_id": "NDUV1_HUMAN", "refseq_ac": "NP_001159574", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial", "type": "recommended" }, { "name": "7.1.1.2", "type": "synonym" }, { "name": "CI-51kD", "type": "synonym" }, { "name": "Complex I-51kD", "type": "synonym" }, { "name": "NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa", "type": "synonym" }, { "name": "NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial isoform 2 precursor", "type": "synonym" }, { "name": "NADH dehydrogenase flavoprotein 1", "type": "synonym" }, { "name": "NADH-ubiquinone oxidoreductase 51 kDa subunit", "type": "synonym" }, { "name": "NDUFV1", "type": "synonym" }, { "name": "complex I 51 kda subunit", "type": "synonym" }, { "name": "complex I 51kDa subunit", "type": "synonym" }, { "name": "complex I, mitochondrial respiratory chain", "type": "synonym" }, { "name": "mitochondrial NADH dehydrogenase ubiquinone flavoprotein 1", "type": "synonym" }, { "name": "mitochondrial NADH:ubiquinone oxidoreductase 51 kda subunit", "type": "synonym" } ], "gene_names": [ { "name": "NDUFV1", "type": "recommended" }, { "name": "CI-51K", "type": "synonym" }, { "name": "CI51KD", "type": "synonym" }, { "name": "MC1DN4", "type": "synonym" }, { "name": "NDUFV1", "type": "synonym" }, { "name": "UQOR1", "type": "synonym" } ], "record_id": "P49821-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "O75306-1", "uniprot_ac": "O75306", "uniprot_id": "NDUS2_HUMAN", "refseq_ac": "NP_001159631", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial", "type": "recommended" }, { "name": "7.1.1.2", "type": "synonym" }, { "name": "CI-49kD", "type": "synonym" }, { "name": "Complex I-49kD", "type": "synonym" }, { "name": "NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)", "type": "synonym" }, { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial isoform 2 precursor", "type": "synonym" }, { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial", "type": "synonym" }, { "name": "NADH-ubiquinone oxidoreductase 49 kDa subunit", "type": "synonym" }, { "name": "NADH-ubiquinone oxidoreductase NDUFS2 subunit", "type": "synonym" }, { "name": "complex 1, mitochondrial respiratory chain, 49-KD subunit", "type": "synonym" }, { "name": "complex I 49kDa subunit", "type": "synonym" } ], "gene_names": [ { "name": "NDUFS2", "type": "recommended" }, { "name": "CI-49", "type": "synonym" }, { "name": "LHONAR2", "type": "synonym" }, { "name": "MC1DN6", "type": "synonym" }, { "name": "NDUFS2", "type": "synonym" } ], "record_id": "O75306-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "Q9UBX3-1", "uniprot_ac": "Q9UBX3", "uniprot_id": "DIC_HUMAN", "refseq_ac": "NP_001257817", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Mitochondrial dicarboxylate carrier", "type": "recommended" }, { "name": "DIC", "type": "synonym" }, { "name": "Solute carrier family 25 member 10", "type": "synonym" }, { "name": "dicarboxylate ion carrier", "type": "synonym" }, { "name": "dicarboxylate transporter), member 10", "type": "synonym" }, { "name": "mitochondrial dicarboxylate carrier isoform 1", "type": "synonym" }, { "name": "mitochondrial dicarboxylate carrier", "type": "synonym" }, { "name": "solute carrier family 25 (mitochondrial carrier", "type": "synonym" } ], "gene_names": [ { "name": "SLC25A10", "type": "recommended" }, { "name": "DIC", "type": "synonym" }, { "name": "MTDPS19", "type": "synonym" }, { "name": "SLC25A10", "type": "synonym" } ], "record_id": "Q9UBX3-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "Q9BQ52-1", "uniprot_ac": "Q9BQ52", "uniprot_id": "RNZ2_HUMAN", "refseq_ac": "NP_001159434", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Zinc phosphodiesterase ELAC protein 2", "type": "recommended" }, { "name": "3.1.26.11", "type": "synonym" }, { "name": "ElaC homolog protein 2", "type": "synonym" }, { "name": "Heredity prostate cancer protein 2", "type": "synonym" }, { "name": "RNase Z 2", "type": "synonym" }, { "name": "Ribonuclease Z 2", "type": "synonym" }, { "name": "elaC homolog 2", "type": "synonym" }, { "name": "elaC homolog protein 2", "type": "synonym" }, { "name": "elaC-like protein 2", "type": "synonym" }, { "name": "heredity prostate cancer protein 2", "type": "synonym" }, { "name": "putative prostate cancer susceptibility protein HPC2/ELAC2", "type": "synonym" }, { "name": "ribonuclease Z 2", "type": "synonym" }, { "name": "tRNA 3 endonuclease 2", "type": "synonym" }, { "name": "tRNase Z (long form)", "type": "synonym" }, { "name": "tRNase Z 2", "type": "synonym" }, { "name": "zinc phosphodiesterase ELAC protein 2 isoform 3", "type": "synonym" }, { "name": "zinc phosphodiesterase ELAC protein 2", "type": "synonym" } ], "gene_names": [ { "name": "ELAC2", "type": "recommended" }, { "name": "COXPD17", "type": "synonym" }, { "name": "ELAC2", "type": "synonym" }, { "name": "ELC2", "type": "synonym" }, { "name": "HPC2", "type": "synonym" } ], "record_id": "Q9BQ52-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "Q96I59-1", "uniprot_ac": "Q96I59", "uniprot_id": "SYNM_HUMAN", "refseq_ac": "NP_001230180", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Asparaginyl-tRNA synthetase", "type": "recommended" }, { "name": "6.1.1.22", "type": "synonym" }, { "name": "AsnRS", "type": "synonym" }, { "name": "Asparagine--tRNA ligase, mitochondrial", "type": "synonym" }, { "name": "NARS2", "type": "synonym" }, { "name": "asparagine tRNA ligase 2, mitochondrial (putative)", "type": "synonym" }, { "name": "asparagine--tRNA ligase, mitochondrial", "type": "synonym" }, { "name": "asparaginyl-tRNA synthetase 2, mitochondrial (putative)", "type": "synonym" }, { "name": "asparaginyl-tRNA synthetase isoform 2", "type": "synonym" }, { "name": "deafness, autosomal recessive 94", 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"M1G-methyltransferase", "type": "synonym" }, { "name": "TRM5 tRNA methyltransferase 5 homolog", "type": "synonym" }, { "name": "tRNA (guanine(37)-N(1))-methyltransferase isoform 3", "type": "synonym" }, { "name": "tRNA (guanine(37)-N(1))-methyltransferase", "type": "synonym" }, { "name": "tRNA (guanine(37)-N1)-methyltransferase", "type": "synonym" }, { "name": "tRNA (guanine-N(1)-)-methyltransferase", "type": "synonym" }, { "name": "tRNA [GM37] methyltransferase", "type": "synonym" }, { "name": "tRNA methyltransferase 5 homolog", "type": "synonym" }, { "name": "tRNA-N1G37 methyltransferase", "type": "synonym" } ], "gene_names": [ { "name": "TRMT5", "type": "recommended" }, { "name": "COXPD26", "type": "synonym" }, { "name": "KIAA1393", "type": "synonym" }, { "name": "PNSED", "type": "synonym" }, { "name": "TRM5", "type": "synonym" }, { "name": "TRMT5", "type": "synonym" } ], "record_id": "Q32P41-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "O15239-1", "uniprot_ac": "O15239", "uniprot_id": "NDUA1_HUMAN", "refseq_ac": "NP_004532", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1", "type": "recommended" }, { "name": "CI-MWFE", "type": "synonym" }, { "name": "Complex I-MWFE", "type": "synonym" }, { "name": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa", "type": "synonym" }, { "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1", "type": "synonym" }, { "name": "NADH-ubiquinone oxidoreductase MWFE subunit", "type": "synonym" }, { "name": "NADH:ubiquinone oxidoreductase (complex 1)", "type": "synonym" }, { "name": "complex I MWFE subunit", "type": "synonym" }, { "name": "type I dehydrogenase", "type": "synonym" } ], "gene_names": [ { "name": "NDUFA1", "type": "recommended" }, { "name": "CI-MWFE", "type": "synonym" }, { "name": "MC1DN12", "type": "synonym" }, { "name": "MWFE", "type": "synonym" }, { "name": "NDUFA1", "type": "synonym" }, { "name": "ZNF183", "type": "synonym" } ], "record_id": "O15239-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "O95831-1", "uniprot_ac": "O95831", "uniprot_id": "AIFM1_HUMAN", "refseq_ac": "NP_001124318", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Apoptosis-inducing factor 1, mitochondrial", "type": "recommended" }, { "name": "1.6.99.-", "type": "synonym" }, { "name": "Programmed cell death protein 8", "type": "synonym" }, { "name": "apoptosis-inducing factor 1, mitochondrial isoform 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"name": "SEMDHL", "type": "synonym" } ], "record_id": "O95831-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "O75380-1", "uniprot_ac": "O75380", "uniprot_id": "NDUS6_HUMAN", "refseq_ac": "NP_004544", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial", "type": "recommended" }, { "name": "CI-13kD-A", "type": "synonym" }, { "name": "Complex I-13kD-A", "type": "synonym" }, { "name": "NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)", "type": "synonym" }, { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial precursor", "type": "synonym" }, { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial", "type": "synonym" }, { "name": "NADH-ubiquinone oxidoreductase 13 kDa-A subunit", "type": "synonym" }, { "name": "NADH:ubiquinone oxidoreductase NDUFS6 subunit", "type": "synonym" }, { "name": "complex I 13kDa subunit A", "type": "synonym" }, { "name": "complex I, mitochondrial respiratory chain, 13-kD subunit", "type": "synonym" } ], "gene_names": [ { "name": "NDUFS6", "type": "recommended" }, { "name": "CI-13kA", "type": "synonym" }, { "name": "CI-13kD-A", "type": "synonym" }, { "name": "CI13KDA", "type": "synonym" }, { "name": "MC1DN9", "type": "synonym" }, { "name": "NDUFS6", "type": "synonym" } ], "record_id": "O75380-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] }, { "uniprot_canonical_ac": "P28331-1", "uniprot_ac": "P28331", "uniprot_id": "NDUS1_HUMAN", "refseq_ac": "NP_001186910", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial", "type": "recommended" }, { "name": "7.1.1.2", "type": "synonym" }, { "name": "CI-75kD", "type": "synonym" }, { "name": "Complex I-75kD", "type": "synonym" }, { "name": "NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)", "type": "synonym" }, { "name": "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform 2 precursor", "type": "synonym" }, { "name": "complex I 75kDa subunit", "type": "synonym" }, { "name": "complex I, mitochondrial respiratory chain, 75-kD subunit", "type": "synonym" }, { "name": "mitochondrial NADH-ubiquinone oxidoreductase 75 kDa subunit", "type": "synonym" } ], "gene_names": [ { "name": "NDUFS1", "type": "recommended" }, { "name": "CI-75Kd", "type": "synonym" }, { "name": "CI-75k", "type": "synonym" }, { "name": "MC1DN5", "type": "synonym" }, { "name": "NDUFS1", "type": "synonym" }, { "name": "PRO1304", "type": "synonym" } ], "record_id": "P28331-1", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0060536" }