{ "disease_id": "DOID:0060537", "recommended_name": { "id": "DOID:0060537", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060537", "name": "mitochondrial complex II deficiency", "description": "A mitochondrial metabolism disease characterized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23." }, "synonyms": [ { "id": "DOID:0060537", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060537", "name": "isolated succinate-CoQ reductase deficiency", "description": "" }, { "id": "DOID:0060537", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060537", "name": "isolated succinate-coenzyme Q reductase deficiency", "description": "" }, { "id": "DOID:0060537", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060537", "name": "isolated succinate-ubiquinone reductase deficiency", "description": "" }, { "id": "DOID:0060537", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060537", "name": "isolated mitochondrial respiratory chain complex II deficiency", "description": "" }, { "id": "MONDO:0100294", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100294", "name": "mitochondrial complex II deficiency, nuclear type 1", "description": "Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Complex II deficiency can be caused by mutations in the SDHA, SDHB, SDHD, or SDHAF1 genes. In many cases the underlying gene mutations cannot be identified. Complex II deficiency is inherited in an autosomal recessive fashion. Complex II deficiency gene mutation carriers may be at an increased risk for certain cancers." }, { "id": "MONDO:0100294", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100294", "name": "isolated mitochondrial respiratory chain complex II deficiency", "description": "" }, { "id": "MONDO:0100294", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100294", "name": "isolated succinate-CoQ reductase deficiency", "description": "" }, { "id": "MONDO:0100294", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100294", "name": "isolated succinate-coenzyme Q reductase deficiency", "description": "" }, { "id": "MONDO:0100294", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100294", "name": "isolated succinate-ubiquinone reductase deficiency", "description": "" }, { "id": "MONDO:0100294", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100294", "name": "mitochondrial complex II deficiency, nuclear type 1", "description": "" }, { "id": "MONDO:0100294", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100294", "name": "complex 2 mitochondrial respiratory chain deficiency", "description": "" }, { "id": "MONDO:0100294", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100294", "name": "mitochondrial respiratory chain complex II deficiency", "description": "" }, { "id": "MONDO:0100294", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100294", "name": "succinate dehydrogenase deficiency", "description": "" }, { "id": "MIM:252011", "resource": "MIM", "url": "https://www.omim.org/entry/252011", "name": "Mitochondrial complex II deficiency, nuclear type 1", "description": "Mitochondrial complex II deficiency, nuclear type 1" } ], "children": [], "id_list": [ "DOID:0060537" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0060537", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060537", "categories": [] }, { "id": "MONDO:0100294", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100294", "categories": [] }, { "id": "MIM:252011", "database": "MIM", "url": "https://www.omim.org/entry/252011", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "A5PL98-1", "uniprot_ac": "A5PL98", "uniprot_id": "SDHB_DANRE", "refseq_ac": "NP_001092210", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial", "type": "recommended" }, { "name": "1.1.5.-", "type": "synonym" }, { "name": "1.3.5.1", "type": "synonym" }, { "name": "Ip", "type": "synonym" }, { "name": "Iron-sulfur subunit of complex II", "type": "synonym" }, { "name": "Malate dehydrogenase [quinone] iron-sulfur subunit", "type": "synonym" }, { "name": "Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial", "type": "synonym" }, { "name": "malate dehydrogenase [quinone] iron-sulfur subunit", "type": "synonym" }, { "name": "succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial precursor", "type": "synonym" } ], "gene_names": [ { "name": "sdhb", "type": "recommended" }, { "name": "Ip", "type": "synonym" }, { "name": "fj46d06", "type": "synonym" }, { "name": "sdhb", "type": "synonym" }, { "name": "wu:fj46d06", "type": "synonym" } ], "record_id": "A5PL98-1", "evidence": [ { "id": "0060537", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060537" } ] }, { "uniprot_canonical_ac": "Q7ZVF3-1", "uniprot_ac": "Q7ZVF3", "uniprot_id": "SDHA_DANRE", "refseq_ac": "NP_957204", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial", "type": "recommended" }, { "name": "1.1.5.-", "type": "synonym" }, { "name": "1.3.5.1", "type": "synonym" }, { "name": "Flavoprotein subunit of complex II", "type": "synonym" }, { "name": "Fp", "type": "synonym" }, { "name": "Malate dehydrogenase [quinone] flavoprotein subunit", "type": "synonym" }, { "name": "flavoprotein subunit of complex II", "type": "synonym" }, { "name": "fp", "type": "synonym" }, { "name": "malate dehydrogenase [quinone] flavoprotein subunit", "type": "synonym" }, { "name": "succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial precursor", "type": "synonym" }, { "name": "succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial", "type": "synonym" } ], "gene_names": [ { "name": "sdha", "type": "recommended" }, { "name": "im:7141001", "type": "synonym" }, { "name": "sdha", "type": "synonym" }, { "name": "si:dkeyp-84f11.2", "type": "synonym" }, { "name": "zgc:56051", "type": "synonym" } ], "record_id": "Q7ZVF3-1", "evidence": [ { "id": "0060537", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060537" } ] }, { "uniprot_canonical_ac": "Q68FN7-1", "uniprot_ac": "Q68FN7", "uniprot_id": "DHSDB_DANRE", "refseq_ac": "NP_001004004", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Succinate dehydrogenase [ubiquinone] cytochrome b small subunit B, mitochondrial", "type": "recommended" }, { "name": "CybS-B", "type": "synonym" }, { "name": "Malate dehydrogenase [quinone] cytochrome b small subunit", "type": "synonym" }, { "name": "SDHD1", "type": "synonym" }, { "name": "Succinate dehydrogenase complex subunit D-B", "type": "synonym" }, { "name": "Succinate-ubiquinone oxidoreductase cytochrome b small subunit B", "type": "synonym" }, { "name": "Succinate-ubiquinone reductase membrane anchor subunit B", "type": "synonym" }, { "name": "malate dehydrogenase [quinone] cytochrome b small subunit", "type": "synonym" }, { "name": "succinate dehydrogenase [ubiquinone] cytochrome b small subunit B, mitochondrial", "type": "synonym" }, { "name": "succinate dehydrogenase complex subunit D-B", "type": "synonym" }, { "name": "succinate dehydrogenase complex, subunit D, integral membrane protein a", "type": "synonym" }, { "name": "succinate-ubiquinone oxidoreductase cytochrome b small subunit B", "type": "synonym" }, { "name": "succinate-ubiquinone reductase membrane anchor subunit B", "type": "synonym" } ], "gene_names": [ { "name": "sdhdb", "type": "recommended" }, { "name": "cybS-B", "type": "synonym" }, { "name": "sdhda", "type": "synonym" }, { "name": "sdhdb", "type": "synonym" }, { "name": "sdhd", "type": "synonym" }, { "name": "zgc:100986", "type": "synonym" } ], "record_id": "Q68FN7-1", "evidence": [ { "id": "0060537", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060537" } ] }, { "uniprot_canonical_ac": "Q6DGM2-1", "uniprot_ac": "Q6DGM2", "uniprot_id": "DHSDA_DANRE", "refseq_ac": "NP_001002489", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Succinate dehydrogenase [ubiquinone] cytochrome b small subunit A, mitochondrial", "type": "recommended" }, { "name": "CybS-A", "type": "synonym" }, { "name": "Malate dehydrogenase [quinone] cytochrome b small subunit", "type": "synonym" }, { "name": "SDHD2", "type": "synonym" }, { "name": "Succinate dehydrogenase complex subunit D-A", "type": "synonym" }, { "name": "Succinate-ubiquinone oxidoreductase cytochrome b small subunit A", "type": "synonym" }, { "name": "Succinate-ubiquinone reductase membrane anchor subunit A", "type": "synonym" }, { "name": "malate dehydrogenase [quinone] cytochrome b small subunit", "type": "synonym" }, { "name": "succinate dehydrogenase [ubiquinone] cytochrome b small subunit A, mitochondrial", "type": "synonym" }, { "name": "succinate dehydrogenase complex subunit D-A", "type": "synonym" }, { "name": "succinate dehydrogenase complex, subunit D, integral membrane protein b", "type": "synonym" }, { "name": "succinate-ubiquinone oxidoreductase cytochrome b small subunit A", "type": "synonym" }, { "name": "succinate-ubiquinone reductase membrane anchor subunit A", "type": "synonym" } ], "gene_names": [ { "name": "sdhda", "type": "recommended" }, { "name": "cybS-A", "type": "synonym" }, { "name": "sdhda", "type": "synonym" }, { "name": "sdhdb", "type": "synonym" }, { "name": "zgc:92857", "type": "synonym" } ], "record_id": "Q6DGM2-1", "evidence": [ { "id": "0060537", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060537" } ] }, { "uniprot_canonical_ac": "A0ACD6B605-1", "uniprot_ac": "A0ACD6B605", "uniprot_id": "A0ACD6B605_DANRE", "refseq_ac": "XP_002665987", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Succinate dehydrogenase assembly factor 1, mitochondrial", "type": "synonym" }, { "name": "succinate dehydrogenase assembly factor 1, mitochondrial", "type": "synonym" } ], "gene_names": [ { "name": "sdhaf1", "type": "recommended" }, { "name": "sdhaf1", "type": "synonym" } ], "record_id": "A0ACD6B605-1", "evidence": [ { "id": "0060537", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060537" } ] }, { "uniprot_canonical_ac": "Q5XIY4-1", "uniprot_ac": "Q5XIY4", "uniprot_id": "SDHF3_DANRE", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Succinate dehydrogenase assembly factor 3, mitochondrial", "type": "recommended" }, { "name": "SDH assembly factor 3", "type": "synonym" }, { "name": "SDHAF3", "type": "synonym" } ], "gene_names": [ { "name": "sdhaf3", "type": "recommended" }, { "name": "acn9", "type": "synonym" }, { "name": "zgc:92826", "type": "synonym" } ], "record_id": "Q5XIY4-1", "evidence": [ { "id": "0060537", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060537" } ] }, { "uniprot_canonical_ac": "Q9CQA3-1", "uniprot_ac": "Q9CQA3", "uniprot_id": "SDHB_MOUSE", "refseq_ac": "NP_075863", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial", "type": "recommended" }, { "name": "1.1.5.-", "type": "synonym" }, { "name": "1.3.5.1", "type": "synonym" }, { "name": "Ip", "type": "synonym" }, { "name": "Iron-sulfur subunit of complex II", "type": "synonym" }, { "name": "Malate dehydrogenase [quinone] iron-sulfur subunit", "type": "synonym" }, { "name": "ip", "type": "synonym" }, { "name": "iron-sulfur subunit of complex II", "type": "synonym" }, { "name": "malate dehydrogenase [quinone] iron-sulfur subunit", "type": "synonym" }, { "name": "succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial isoform 1 precursor", "type": "synonym" }, { "name": "succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial", "type": "synonym" }, { "name": "succinate dehydrogenase complex subunit B", "type": "synonym" } ], "gene_names": [ { "name": "Sdhb", "type": "recommended" }, { "name": "0710008N11Rik", "type": "synonym" }, { "name": "Sdhb", "type": "synonym" } ], "record_id": "Q9CQA3-1", "evidence": [ { "id": "0060537", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060537" } ] }, { "uniprot_canonical_ac": "Q9CXV1-1", "uniprot_ac": "Q9CXV1", "uniprot_id": "DHSD_MOUSE", "refseq_ac": "NP_080124", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial", "type": "recommended" }, { "name": "CII-4", "type": "synonym" }, { "name": "CybS", "type": "synonym" }, { "name": "Malate dehydrogenase [quinone] cytochrome b small subunit", "type": "synonym" }, { "name": "QPs3", "type": "synonym" }, { "name": "Succinate dehydrogenase complex subunit D", "type": "synonym" }, { "name": "Succinate-ubiquinone oxidoreductase cytochrome b small subunit", "type": "synonym" }, { "name": "Succinate-ubiquinone reductase membrane anchor subunit", "type": "synonym" }, { "name": "malate dehydrogenase [quinone] cytochrome b small subunit", "type": "synonym" }, { "name": "succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial", "type": "synonym" }, { "name": "succinate dehydrogenase complex subunit D", "type": "synonym" }, { "name": "succinate-ubiquinone oxidoreductase cytochrome b small subunit", "type": "synonym" }, { "name": "succinate-ubiquinone reductase membrane anchor subunit", "type": "synonym" } ], "gene_names": [ { "name": "Sdhd", "type": "recommended" }, { "name": "3110001M13Rik", "type": "synonym" }, { "name": "AVLL5809", "type": "synonym" }, { "name": "CII-4", "type": "synonym" }, { "name": "PRO19626", "type": "synonym" }, { "name": "QPs3", "type": "synonym" }, { "name": "Sdhd", "type": "synonym" }, { "name": "cybS", "type": "synonym" } ], "record_id": "Q9CXV1-1", "evidence": [ { "id": "0060537", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060537" } ] }, { "uniprot_canonical_ac": "Q8K2B3-1", "uniprot_ac": "Q8K2B3", "uniprot_id": "SDHA_MOUSE", "refseq_ac": "NP_075770", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial", "type": "recommended" }, { "name": "1.1.5.-", "type": "synonym" }, { "name": "1.3.5.1", "type": "synonym" }, { "name": "E3-10 Sdha", "type": "synonym" }, { "name": "Flavoprotein subunit of complex II", "type": "synonym" }, { "name": "Fp", "type": "synonym" }, { "name": "Malate dehydrogenase [quinone] flavoprotein subunit", "type": "synonym" }, { "name": "flavoprotein subunit of complex II", "type": "synonym" }, { "name": "malate dehydrogenase [quinone] flavoprotein subunit", "type": "synonym" }, { "name": "succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial precursor", "type": "synonym" }, { "name": "succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial", "type": "synonym" } ], "gene_names": [ { "name": "Sdha", "type": "recommended" }, { "name": "1500032O14Rik", "type": "synonym" }, { "name": "2310034D06Rik", "type": "synonym" }, { "name": "4921513A11", "type": "synonym" }, { "name": "FP", "type": "synonym" }, { "name": "SDH2", "type": "synonym" }, { "name": "SDHF", "type": "synonym" }, { "name": "Sdha", "type": "synonym" } ], "record_id": "Q8K2B3-1", "evidence": [ { "id": "0060537", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060537" } ] }, { "uniprot_canonical_ac": "Q3U276-1", "uniprot_ac": "Q3U276", "uniprot_id": "SDHF1_MOUSE", "refseq_ac": "NP_001028312", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Succinate dehydrogenase assembly factor 1, mitochondrial", "type": "recommended" }, { "name": "LYR motif-containing protein 8", "type": "synonym" }, { "name": "SDH assembly factor 1", "type": "synonym" }, { "name": "SDHAF1", "type": "synonym" }, { "name": "succinate dehydrogenase assembly factor 1, mitochondrial", "type": "synonym" } ], "gene_names": [ { "name": "Sdhaf1", "type": "recommended" }, { "name": "0610010E21Rik", "type": "synonym" }, { "name": "Lyrm8", "type": "synonym" }, { "name": "Sdhaf1", "type": "synonym" } ], "record_id": "Q3U276-1", "evidence": [ { "id": "0060537", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060537" } ] }, { "uniprot_canonical_ac": "Q8BQU3-1", "uniprot_ac": "Q8BQU3", "uniprot_id": "SDHF3_MOUSE", "refseq_ac": "NP_001071181", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Succinate dehydrogenase assembly factor 3, mitochondrial", "type": "recommended" }, { "name": "SDH assembly factor 3", "type": "synonym" }, { "name": "SDHAF3", "type": "synonym" }, { "name": "protein ACN9 homolog, mitochondrial", "type": "synonym" }, { "name": "succinate dehydrogenase assembly factor 3, mitochondrial isoform b precursor", "type": "synonym" }, { "name": "succinate dehydrogenase assembly factor 3, mitochondrial", "type": "synonym" } ], "gene_names": [ { "name": "Sdhaf3", "type": "recommended" }, { "name": "0610005M07Rik", "type": "synonym" }, { "name": "4933430A16Rik", "type": "synonym" }, { "name": "Acn9", "type": "synonym" }, { "name": "Sdhaf3", "type": "synonym" } ], "record_id": "Q8BQU3-1", "evidence": [ { "id": "0060537", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060537" } ] }, { "uniprot_canonical_ac": "P31040-1", "uniprot_ac": "P31040", "uniprot_id": "SDHA_HUMAN", "refseq_ac": "NP_001281261", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial", "type": "recommended" }, { "name": "1.1.5.-", "type": "synonym" }, { "name": "1.3.5.1", "type": "synonym" }, { "name": "Flavoprotein subunit of complex II", "type": "synonym" }, { "name": "Fp", "type": "synonym" }, { "name": "Malate dehydrogenase [quinone] flavoprotein subunit", "type": "synonym" }, { "name": "flavoprotein subunit of complex II", "type": "synonym" }, { "name": "malate dehydrogenase [quinone] flavoprotein subunit", "type": "synonym" }, { "name": "succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial isoform 2", "type": "synonym" }, { "name": "succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial", "type": "synonym" }, { "name": "succinate dehydrogenase complex, subunit A, flavoprotein (Fp)", "type": "synonym" } ], "gene_names": [ { "name": "SDHA", "type": "recommended" }, { "name": "CMD1GG", "type": "synonym" }, { "name": "FP", "type": "synonym" }, { "name": "MC2DN1", "type": "synonym" }, { "name": "NDAXOA", "type": "synonym" }, { "name": "PGL5", "type": "synonym" }, { "name": "PPGL5", "type": "synonym" }, { "name": "SDH1", "type": "synonym" }, { "name": "SDH2", "type": "synonym" }, { "name": "SDHA", "type": "synonym" }, { "name": "SDHF", "type": "synonym" } ], "record_id": "P31040-1", "evidence": [ { "id": "252011", "database": "MIM", "url": "https://www.omim.org/entry/252011" }, { "id": "0060537", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060537" } ] }, { "uniprot_canonical_ac": "Q04401-1", "uniprot_ac": "Q04401", "uniprot_id": "SDHF3_YEAST", "refseq_ac": "NP_010799", "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": "Succinate dehydrogenase assembly factor 3, mitochondrial", "type": "recommended" }, { "name": "Acetate non-utilizing protein 9", "type": "synonym" }, { "name": "SDH assembly factor 3", "type": "synonym" }, { "name": "SDHAF3", "type": "synonym" }, { "name": "Sdh7p", "type": "synonym" } ], "gene_names": [ { "name": "SDH7", "type": "recommended" }, { "name": "ACN9", "type": "synonym" }, { "name": "D9719.16", "type": "synonym" }, { "name": "SDH7", "type": "synonym" } ], "record_id": "Q04401-1", "evidence": [ { "id": "0060537", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060537" } ] }, { "uniprot_canonical_ac": "Q3E785-1", "uniprot_ac": "Q3E785", "uniprot_id": "SDHF1_YEAST", "refseq_ac": "NP_076888", "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": "Succinate dehydrogenase assembly factor 1, mitochondrial", "type": "recommended" }, { "name": "SDH assembly factor 1", "type": "synonym" }, { 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"P47052-1", "evidence": [ { "id": "0060537", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060537" } ] }, { "uniprot_canonical_ac": "Q06236-1", "uniprot_ac": "Q06236", "uniprot_id": "SHH4_YEAST", "refseq_ac": "NP_013265", "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 inner membrane protein SHH4", "type": "recommended" }, { "name": "SDH4 homolog", "type": "synonym" }, { "name": "protein SHH4", "type": "synonym" } ], "gene_names": [ { "name": "SHH4", "type": "recommended" }, { "name": "SHH4", "type": "synonym" } ], "record_id": "Q06236-1", "evidence": [ { "id": "0060537", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060537" } ] }, { "uniprot_canonical_ac": "P21913-1", "uniprot_ac": "P21913", "uniprot_id": "SDHB_RAT", 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mitochondrial", "type": "synonym" }, { "name": "succinate dehydrogenase complex, subunit B, iron sulfur (Ip)", "type": "synonym" } ], "gene_names": [ { "name": "Sdhb", "type": "recommended" }, { "name": "Sdh1", "type": "synonym" }, { "name": "Sdhb", "type": "synonym" } ], "record_id": "P21913-1", "evidence": [ { "id": "0060537", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060537" } ] }, { "uniprot_canonical_ac": "Q920L2-1", "uniprot_ac": "Q920L2", "uniprot_id": "SDHA_RAT", "refseq_ac": "NP_569112", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial", "type": "recommended" }, { "name": "1.1.5.-", "type": "synonym" }, { "name": "1.3.5.1", "type": "synonym" }, { "name": "Flavoprotein subunit of complex II", "type": "synonym" }, { "name": "Fp", "type": "synonym" }, { "name": "Malate dehydrogenase [quinone] flavoprotein subunit", "type": "synonym" }, { "name": "flavoprotein subunit of complex II", "type": "synonym" }, { "name": "fp", "type": "synonym" }, { "name": "malate dehydrogenase [quinone] flavoprotein subunit", "type": "synonym" }, { "name": "succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial precursor", "type": "synonym" }, { "name": "succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial", "type": "synonym" }, { "name": "succinate dehydrogenase complex, subunit A, flavoprotein (Fp)", "type": "synonym" } ], "gene_names": [ { "name": "Sdha", "type": "recommended" }, { "name": "Sdha", "type": "synonym" } ], "record_id": "Q920L2-1", "evidence": [ { "id": "0060537", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060537" } ] }, { "uniprot_canonical_ac": "Q6PCT8-1", "uniprot_ac": "Q6PCT8", "uniprot_id": "DHSD_RAT", "refseq_ac": "NP_942083", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial", "type": "recommended" }, { "name": "CII-4", "type": "synonym" }, { "name": "CybS", "type": "synonym" }, { "name": "Malate dehydrogenase [quinone] cytochrome b small subunit", "type": "synonym" }, { "name": "QPs3", "type": "synonym" }, { "name": "Succinate dehydrogenase complex subunit D", "type": "synonym" }, { "name": "Succinate-ubiquinone oxidoreductase cytochrome b small subunit", "type": "synonym" }, { "name": "Succinate-ubiquinone reductase membrane anchor subunit", "type": "synonym" }, { "name": "malate dehydrogenase [quinone] cytochrome b small subunit", "type": "synonym" }, { "name": "succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial", "type": "synonym" }, { 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dehydrogenase assembly factor 1, mitochondrial", "type": "recommended" }, { "name": "LYR motif-containing protein 8", "type": "synonym" }, { "name": "SDH assembly factor 1", "type": "synonym" }, { "name": "SDHAF1", "type": "synonym" }, { "name": "succinate dehydrogenase assembly factor 1, mitochondrial", "type": "synonym" } ], "gene_names": [ { "name": "Sdhaf1", "type": "recommended" }, { "name": "Lyrm8", "type": "synonym" }, { "name": "RGD1562079", "type": "synonym" }, { "name": "Sdhaf1", "type": "synonym" } ], "record_id": "B0K036-1", "evidence": [ { "id": "0060537", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060537" } ] }, { "uniprot_canonical_ac": "Q6TUF2-1", "uniprot_ac": "Q6TUF2", "uniprot_id": "SDHF3_RAT", "refseq_ac": "NP_001399494", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Succinate dehydrogenase assembly factor 3, mitochondrial", "type": "recommended" }, { "name": "Liver regeneration-related protein LRRGT00092", "type": "synonym" }, { "name": "SDH assembly factor 3", "type": "synonym" }, { "name": "SDHAF3", "type": "synonym" }, { "name": "liver regeneration-related protein LRRGT00092", "type": "synonym" }, { "name": "protein ACN9 homolog, mitochondrial", "type": "synonym" }, { "name": "succinate dehydrogenase assembly factor 3, mitochondrial precursor", "type": "synonym" }, { "name": "succinate dehydrogenase assembly factor 3, mitochondrial", "type": "synonym" } ], "gene_names": [ { "name": "Sdhaf3", "type": "recommended" }, { "name": "Acn9", "type": "synonym" }, { "name": "LRRGT00092", "type": "synonym" }, { "name": "Sdhaf3", "type": "synonym" } ], "record_id": "Q6TUF2-1", "evidence": [ { "id": "0060537", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060537" } ] }, { "uniprot_canonical_ac": "Q94523-1", "uniprot_ac": "Q94523", 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"type": "synonym" }, { "name": "sdh", "type": "synonym" } ], "record_id": "Q94523-1", "evidence": [ { "id": "0060537", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060537" } ] }, { "uniprot_canonical_ac": "Q9VCI5-1", "uniprot_ac": "Q9VCI5", "uniprot_id": "DHSD_DROME", "refseq_ac": "NP_651181", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial", "type": "recommended" }, { "name": "CG10219-PA", "type": "synonym" }, { "name": "CybS", "type": "synonym" }, { "name": "SUCCINATE DEHYDROGENASE (UBIQUINONE) CYTOCHROME B SMALL SUBUNIT", "type": "synonym" }, { "name": "SdhD-PA", "type": "synonym" }, { "name": "Succinate dehydrogenase complex subunit D", "type": "synonym" }, { "name": "Succinate-ubiquinone reductase membrane anchor subunit", "type": "synonym" }, { "name": "succinate dehydrogenase [ubiquinone] cytochrome B small subunit", "type": "synonym" }, { "name": "succinate dehydrogenase cytochrome b small subunit", "type": "synonym" }, { "name": "succinate dehydrogenase, subunit D", "type": "synonym" } ], "gene_names": [ { "name": "SdhD", "type": "recommended" }, { "name": "BEST:GH27735", "type": "synonym" }, { "name": "CG10219", "type": "synonym" }, { "name": "DHSD", "type": "synonym" }, { "name": "Dmel\\CG10219", "type": "synonym" }, { "name": "SdhD", "type": "synonym" }, { "name": "Sdhd", "type": "synonym" } ], "record_id": "Q9VCI5-1", "evidence": [ { "id": "0060537", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060537" } ] }, { "uniprot_canonical_ac": "Q9VWN3-1", "uniprot_ac": "Q9VWN3", "uniprot_id": "Q9VWN3_DROME", "refseq_ac": "NP_001285420", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial", "type": "recommended" }, { "name": "1.3.5.1", "type": "synonym" }, { "name": "CG7349-PC", "type": "synonym" }, { "name": "SdhBL-PC", "type": "synonym" }, { "name": "ferredoxin", "type": "synonym" }, { "name": "succinate dehydrogenase Iron-sulfur protein", "type": "synonym" }, { "name": "succinate dehydrogenase [ubiquinone] iron-sulfur protein", "type": "synonym" }, { "name": "succinate dehydrogenase, subunit B (iron-sulfur)-like, isoform C", "type": "synonym" } ], "gene_names": [ { "name": "SdhBL", "type": "recommended" }, { "name": "CG7349", "type": "synonym" }, { "name": "DHSB", "type": "synonym" }, { "name": "Dmel\\CG7349", "type": "synonym" }, { "name": "Dmel_CG7349", "type": "synonym" }, { "name": "SdhBL", "type": "synonym" } ], "record_id": "Q9VWN3-1", "evidence": [ { "id": "0060537", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060537" } ] }, { "uniprot_canonical_ac": "P21914-1", "uniprot_ac": "P21914", "uniprot_id": "SDHB_DROME", "refseq_ac": "NP_477101", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial", "type": "recommended" }, { "name": "1.3.5.1", "type": "synonym" }, { "name": "CG3283-PA", "type": "synonym" }, { "name": "COMPLEX II: iron-sulfur subunit", "type": "synonym" }, { "name": "Ip", "type": "synonym" }, { "name": "Iron-sulfur subunit of complex II", "type": "synonym" }, { "name": "SdhB-PA", "type": "synonym" }, { "name": "iron-sulfur protein subunit of succinate dehydrogenase", "type": "synonym" }, { "name": "succinate dehydrogenase B", "type": "synonym" }, { "name": "succinate dehydrogenase Iron-sulfur protein", "type": "synonym" }, { "name": "succinate dehydrogenase [ubiquinone] iron-sulfur protein", "type": "synonym" }, { "name": "succinate dehydrogenase complex subunit B", "type": "synonym" }, { "name": "succinate dehydrogenase iron protein", "type": "synonym" }, { "name": "succinate dehydrogenase subunit b", "type": "synonym" }, { "name": "succinate dehydrogenase, subunit B (iron-sulfur)", "type": "synonym" } ], "gene_names": [ { "name": "SdhB", "type": "recommended" }, { "name": "CG3283", "type": "synonym" }, { "name": "CII-SDHB", "type": "synonym" }, { "name": "DHSB", "type": "synonym" }, { "name": "Dmel\\CG3283", "type": "synonym" }, { "name": "Ip", "type": "synonym" }, { "name": "SDH-B", "type": "synonym" }, { "name": "SDH-IP", "type": "synonym" }, { "name": "SDH-Ip", "type": "synonym" }, { "name": "SDHb", "type": "synonym" }, { "name": "SDH", "type": "synonym" }, { "name": "SdhB", "type": "synonym" }, { "name": "Sdhb", "type": "synonym" }, { "name": "sdhB", "type": "synonym" } ], "record_id": "P21914-1", "evidence": [ { "id": "0060537", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060537" } ] }, { "uniprot_canonical_ac": "Q8SZ16-1", "uniprot_ac": "Q8SZ16", "uniprot_id": "SDHF3_DROME", "refseq_ac": "NP_650552", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Succinate dehydrogenase assembly factor 3, mitochondrial", "type": "recommended" }, { "name": "CG14898-PA", "type": "synonym" }, { "name": "SDH assembly factor 3", "type": "synonym" }, { "name": "SDHAF3", "type": "synonym" }, { "name": "Sdhaf3-PA", "type": "synonym" }, { "name": "succinate dehydrogenase assembly factor 3", "type": "synonym" } ], "gene_names": [ { "name": "Sdhaf3", "type": "recommended" }, { "name": "BcDNA:RE23580", "type": "synonym" }, { "name": "CG14898", "type": "synonym" }, { "name": "Dmel\\CG14898", "type": "synonym" }, { "name": "Sdh7", "type": "synonym" }, { "name": "Sdhaf3", "type": "synonym" }, { "name": "dSdhaf3", "type": "synonym" }, { "name": "sdh7", "type": "synonym" } ], "record_id": "Q8SZ16-1", "evidence": [ { "id": "0060537", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060537" } ] }, { "uniprot_canonical_ac": "P21912-1", "uniprot_ac": "P21912", "uniprot_id": "SDHB_HUMAN", "refseq_ac": "NP_002991", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial", "type": "recommended" }, { "name": "1.1.5.-", "type": "synonym" }, { "name": "1.3.5.1", "type": "synonym" }, { "name": "Ip", "type": "synonym" }, { "name": "Iron-sulfur subunit of complex II", "type": "synonym" }, { "name": "Malate dehydrogenase [quinone] iron-sulfur subunit", "type": "synonym" }, { "name": "iron-sulfur subunit of complex II", "type": "synonym" }, { "name": "malate dehydrogenase [quinone] iron-sulfur subunit", "type": "synonym" }, { "name": "succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial isoform 1 precursor", "type": "synonym" }, { "name": "succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial", "type": "synonym" }, { "name": "succinate dehydrogenase complex, subunit B, iron sulfur (Ip)", "type": "synonym" } ], "gene_names": [ { "name": "SDHB", "type": "recommended" }, { "name": "CWS2", "type": "synonym" }, { "name": "IP", "type": "synonym" }, { "name": "MC2DN4", "type": "synonym" }, { "name": "PGL4", "type": "synonym" }, { "name": "PPGL4", "type": "synonym" }, { "name": "SDH1", "type": "synonym" }, { "name": "SDH2", "type": "synonym" }, { "name": "SDHB", "type": "synonym" }, { "name": "SDHIP", "type": "synonym" }, { "name": "SDH", "type": "synonym" } ], "record_id": "P21912-1", "evidence": [ { "id": "0060537", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060537" } ] }, { "uniprot_canonical_ac": "Q9NRP4-1", "uniprot_ac": "Q9NRP4", "uniprot_id": "SDHF3_HUMAN", "refseq_ac": "NP_064571", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Succinate dehydrogenase assembly factor 3, mitochondrial", "type": "recommended" }, { "name": "SDH assembly factor 3", "type": "synonym" }, { "name": "SDHAF3", "type": "synonym" }, { "name": "protein ACN9 homolog, mitochondrial", "type": "synonym" }, { "name": "succinate dehydrogenase assembly factor 3, mitochondrial precursor", "type": "synonym" }, { "name": "succinate dehydrogenase assembly factor 3, mitochondrial", "type": "synonym" } ], "gene_names": [ { "name": "SDHAF3", "type": "recommended" }, { "name": "ACN9", "type": "synonym" }, { "name": "DC11", "type": "synonym" }, { "name": "LYRM10", "type": "synonym" }, { "name": "SDHAF3", "type": "synonym" }, { "name": "Sdh7", "type": "synonym" } ], "record_id": "Q9NRP4-1", "evidence": [ { "id": "0060537", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060537" } ] }, { "uniprot_canonical_ac": "A6NFY7-1", "uniprot_ac": "A6NFY7", "uniprot_id": "SDHF1_HUMAN", "refseq_ac": "NP_001036096", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Succinate dehydrogenase assembly factor 1, mitochondrial", "type": "recommended" }, { "name": "LYR motif containing 8", "type": "synonym" }, { "name": "LYR motif-containing protein 8", "type": "synonym" }, { "name": "SDH assembly factor 1", "type": "synonym" }, { "name": "SDHAF1", "type": "synonym" }, { "name": "succinate dehydrogenase assembly factor 1, mitochondrial", "type": "synonym" } ], "gene_names": [ { "name": "SDHAF1", "type": "recommended" }, { "name": "LYRM8", "type": "synonym" }, { "name": "MC2DN2", "type": "synonym" }, { "name": "SDHAF1", "type": "synonym" } ], "record_id": "A6NFY7-1", "evidence": [ { "id": "0060537", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060537" } ] }, { "uniprot_canonical_ac": "O14521-1", "uniprot_ac": "O14521", "uniprot_id": "DHSD_HUMAN", "refseq_ac": "NP_001263432", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial", "type": "recommended" }, { "name": "CII-4", "type": "synonym" }, { "name": "CybS", "type": "synonym" }, { "name": "Malate dehydrogenase [quinone] cytochrome b small subunit", "type": "synonym" }, { "name": "QPs3", "type": "synonym" }, { "name": "Succinate dehydrogenase complex subunit D", "type": "synonym" }, { "name": "Succinate-ubiquinone oxidoreductase cytochrome b small subunit", "type": "synonym" }, { "name": "Succinate-ubiquinone reductase membrane anchor subunit", "type": "synonym" }, { "name": "malate dehydrogenase [quinone] cytochrome b small subunit", "type": "synonym" }, { "name": "succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial isoform b precursor", "type": "synonym" }, { "name": "succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial", "type": "synonym" }, { "name": "succinate dehydrogenase complex subunit D integral membrane protein", "type": "synonym" }, { "name": "succinate-ubiquinone oxidoreductase cytochrome b small subunit", "type": "synonym" }, { "name": "succinate-ubiquinone reductase membrane anchor subunit", "type": "synonym" } ], "gene_names": [ { "name": "SDHD", "type": "recommended" }, { "name": "CBT1", "type": "synonym" }, { "name": "CII-4", "type": "synonym" }, { "name": "CWS3", "type": "synonym" }, { "name": "MC2DN3", "type": "synonym" }, { "name": "PGL1", "type": "synonym" }, { "name": "PGL", "type": "synonym" }, { "name": "PPGL1", "type": "synonym" }, { "name": "QPs3", "type": "synonym" }, { "name": "SDH4", "type": "synonym" }, { "name": "SDHD", "type": "synonym" }, { "name": "cybS", "type": "synonym" } ], "record_id": "O14521-1", "evidence": [ { "id": "0060537", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060537" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0060537" }