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renal cell carcinoma and gastrointestinal stromal tumors (GIST)." }, { "id": "MONDO:0008192", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008192", "name": "SDHD paraganglioma", "description": "" }, { "id": "MONDO:0008192", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008192", "name": "SDHD-related tumor predisposition", "description": "" }, { "id": "MONDO:0008192", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008192", "name": "paraganglioma caused by mutation in SDHD", "description": "" }, { "id": "MONDO:0008192", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008192", "name": "paragangliomas 1", "description": "" }, { "id": "MONDO:0008192", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008192", "name": "paragangliomas 1, with or without deafness", "description": "" }, { "id": "MONDO:0008192", "resource": "MONDO", "url": 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"label": "pheochromocytoma/paraganglioma syndrome 1", "link_status": true, "children": [] }, { "id": "DOID:0061217", "label": "pheochromocytoma/paraganglioma syndrome 2", "link_status": true, "children": [] }, { "id": "DOID:0061218", "label": "pheochromocytoma/paraganglioma syndrome 3", "link_status": true, "children": [] }, { "id": "DOID:0061219", "label": "pheochromocytoma/paraganglioma syndrome 4", "link_status": true, "children": [] }, { "id": "DOID:0061220", "label": "pheochromocytoma/paraganglioma syndrome 5", "link_status": true, "children": [] }, { "id": "DOID:0061221", "label": "pheochromocytoma/paraganglioma syndrome 6", "link_status": true, "children": [] }, { "id": "DOID:0061222", "label": "pheochromocytoma/paraganglioma syndrome 7", "link_status": true, "children": [] } ], "id_list": [ "DOID:0061217", "DOID:0061218", "DOID:0061220", "DOID:0050773", "DOID:0061219", "DOID:0061222", "DOID:0061216", "DOID:0061221" ], "unlinked_id_list": [], "crossref": [ { "id": 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"name": "SDHCa", "type": "synonym" }, { "name": "succinate dehydrogenase cytochrome b560 subunit, mitochondrial", "type": "synonym" } ], "gene_names": [ { "name": "sdhc", "type": "recommended" }, { "name": "fa91d04", "type": "synonym" }, { "name": "sdhc", "type": "synonym" }, { "name": "wu:fa91d04", "type": "synonym" }, { "name": "zgc:100898", "type": "synonym" } ], "record_id": "B0S5Q2-1", "evidence": [ { "id": "0050773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050773" } ] }, { "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": 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"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": "0050773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050773" } ] }, { "uniprot_canonical_ac": "Q9CXV1-1", "uniprot_ac": "Q9CXV1", "uniprot_id": "DHSD_MOUSE", "refseq_ac": "NP_080124", "glycoprotein": "no", "species": [ { "name": "Mus musculus", 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"https://www.alliancegenome.org/disease/DOID:0050773" } ] }, { "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] 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dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial", "type": "recommended" }, { "name": "1.3.5.1", "type": "synonym" }, { "name": "FP", "type": "synonym" }, { "name": "Flavoprotein subunit of complex II", "type": "synonym" }, { "name": "succinate dehydrogenase flavoprotein subunit SDH1", "type": "synonym" } ], "gene_names": [ { "name": "SDH1", "type": "recommended" }, { "name": "SDH1", "type": "synonym" }, { "name": "SDHA", "type": "synonym" }, { "name": "YKL602", "type": "synonym" } ], "record_id": "Q00711-1", "evidence": [ { "id": "0050773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050773" } ] }, { "uniprot_canonical_ac": "P21801-1", "uniprot_ac": "P21801", "uniprot_id": "SDHB_YEAST", "refseq_ac": "NP_013059", "glycoprotein": "no", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], 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"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": "0050773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050773" } ] }, { "uniprot_canonical_ac": "Q08230-1", "uniprot_ac": "Q08230", "uniprot_id": "SDHF2_YEAST", "refseq_ac": "NP_014570", "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 2, mitochondrial", "type": "recommended" }, { "name": "SDH assembly factor 2", 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"TIM18", "type": "synonym" } ], "record_id": "Q08749-1", "evidence": [ { "id": "0050773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050773" } ] }, { "uniprot_canonical_ac": "Q04487-1", "uniprot_ac": "Q04487", "uniprot_id": "SHH3_YEAST", "refseq_ac": "NP_013836", "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 SHH3", "type": "recommended" }, { "name": "SDH3 homolog", "type": "synonym" }, { "name": "protein SHH3", "type": "synonym" } ], "gene_names": [ { "name": "SHH3", "type": "recommended" }, { "name": "SHH3", "type": "synonym" }, { "name": "YM9718.17C", "type": "synonym" } ], "record_id": "Q04487-1", "evidence": [ { "id": "0050773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050773" } ] }, { 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"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": "CII-4", "type": "synonym" }, { "name": "QPs3", "type": "synonym" }, { "name": "Sdhd", "type": "synonym" }, { "name": "cybS", "type": "synonym" } ], "record_id": "Q6PCT8-1", "evidence": [ { "id": "0050773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050773" } ] }, { "uniprot_canonical_ac": "P21913-1", "uniprot_ac": "P21913", "uniprot_id": "SDHB_RAT", "refseq_ac": "NP_001094009", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Succinate 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"synonym" } ], "record_id": "P21913-1", "evidence": [ { "id": "0050773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050773" } ] }, { "uniprot_canonical_ac": "Q641Z9-1", "uniprot_ac": "Q641Z9", "uniprot_id": "Q641Z9_RAT", "refseq_ac": "NP_001005534", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Succinate dehydrogenase cytochrome b560 subunit, mitochondrial", "type": "recommended" }, { "name": "Integral membrane protein CII-3", "type": "synonym" }, { "name": "Malate dehydrogenase [quinone] cytochrome b560 subunit", "type": "synonym" }, { "name": "QPs-1", "type": "synonym" }, { "name": "succinate dehydrogenase complex, subunit C, integral membrane protein", "type": "synonym" }, { "name": "succinate dehydrogenase cytochrome b560 subunit, mitochondrial", "type": "synonym" } ], "gene_names": [ { 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{ "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": "0050773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050773" } ] }, { "uniprot_canonical_ac": "O08769-1", "uniprot_ac": "O08769", "uniprot_id": "O08769_RAT", "refseq_ac": "NP_113950", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Cyclin-dependent kinase inhibitor 1B", "type": "recommended" }, { "name": "Cyclin-dependent kinase inhibitor 1B (p27, Kip1)", "type": "synonym" }, { "name": "Cyclin-dependent kinase inhibitor p27", "type": "synonym" }, { "name": "cyclin-dependent kinase inhibitor 1B", "type": "synonym" }, { "name": "cyclin-dependent kinase inhibitor p27/Kip1", "type": "synonym" }, { "name": "cyclin-dependent kinase inhibitor p27", "type": "synonym" }, { "name": "p27Kip1", "type": "synonym" } ], "gene_names": [ { "name": "Cdkn1b", "type": "recommended" }, { "name": "CDKN4", "type": "synonym" }, { "name": "Cdki1b", "type": "synonym" }, { "name": "Cdkn1b", "type": "synonym" }, { "name": "Kip1", "type": "synonym" }, { "name": "P27KIP1", "type": "synonym" }, { "name": "p27", "type": "synonym" } ], "record_id": "O08769-1", "evidence": [ { "id": "0050773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050773" } ] }, { "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": "0050773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050773" } ] }, { "uniprot_canonical_ac": "Q9VGS3-1", "uniprot_ac": "Q9VGS3", "uniprot_id": "Q9VGS3_DROME", "refseq_ac": "NP_001262472", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "1.3.-.-", "type": "synonym" }, { "name": "CG6666-PB", "type": "synonym" }, { "name": "SdhC-PB", "type": "synonym" }, { "name": "Succinate dehydrogenase, subunit C, isoform A", "type": "synonym" }, { "name": "Succinate dehydrogenase, subunit C, isoform B", "type": "synonym" }, { "name": "succinate dehydrogenase C", "type": "synonym" }, { "name": "succinate dehydrogenase cytochrome B560 subunit", "type": "synonym" }, { "name": "succinate dehydrogenase, subunit C, isoform B", "type": "synonym" } ], "gene_names": [ { "name": "SdhC", "type": "recommended" }, { "name": "BcDNA:RH04289", "type": "synonym" }, { "name": "C560", "type": "synonym" }, { "name": "CG6666", "type": "synonym" }, { "name": "Dmel\\CG6666", "type": "synonym" }, { "name": "Dmel_CG6666", "type": "synonym" }, { "name": "RH04289p", "type": "synonym" }, { "name": "SDH-C", "type": "synonym" }, { "name": "SDHC", "type": "synonym" }, { "name": "SDH", "type": "synonym" }, { "name": "SdhC", "type": "synonym" }, { "name": "Sdhc", "type": "synonym" }, { "name": "sdhC", "type": "synonym" } ], "record_id": "Q9VGS3-1", "evidence": [ { "id": "0050773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050773" } ] }, { "uniprot_canonical_ac": "Q9VGT9-1", "uniprot_ac": "Q9VGT9", "uniprot_id": "Q9VGT9_DROME", "refseq_ac": "NP_650041", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "1.3.-.-", "type": "synonym" }, { "name": "CG6629-PA", "type": "synonym" }, { "name": "SdhCL-PA", "type": "synonym" }, { "name": "Succinate dehydrogenase, subunit C-like", "type": "synonym" }, { "name": "succinate dehydrogenase, subunit C-like", "type": "synonym" } ], "gene_names": [ { "name": "SdhCL", "type": "recommended" }, { "name": "CG6629", "type": "synonym" }, { "name": "Dmel\\CG6629", "type": "synonym" }, { "name": "Dmel_CG6629", "type": "synonym" }, { "name": "SdhCL", "type": "synonym" } ], "record_id": "Q9VGT9-1", "evidence": [ { "id": "0050773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050773" } ] }, { "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": "0050773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050773" } ] }, { "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": "0050773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050773" } ] }, { "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": "0050773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050773" } ] }, { "uniprot_canonical_ac": "Q94523-1", "uniprot_ac": "Q94523", "uniprot_id": "SDHA_DROME", "refseq_ac": "NP_477210", "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] flavoprotein subunit, mitochondrial", "type": "recommended" }, { "name": "1.3.5.1", "type": "synonym" }, { "name": "CG17246-PA", "type": "synonym" }, { "name": "COMPLEX II: flavoprotein subunit", "type": "synonym" }, { "name": "FP", "type": "synonym" }, { "name": "Flavoprotein subunit of complex II", "type": "synonym" }, { "name": "SUCCINYL COENZIME A SYNTHETASE FLAVOPROTEIN SUBUNIT", "type": "synonym" }, { "name": "SdhA-PA", "type": "synonym" }, { "name": "Succinyl coenzyme A synthetase flavoprotein subunit", "type": "synonym" }, { "name": "succinate dehydrogenase A", "type": "synonym" }, { "name": "succinate dehydrogenase [ubiquinone] flavoprotein subunit", "type": "synonym" }, { "name": "succinate dehydrogenase flavoprotein subunit", "type": "synonym" }, { "name": "succinate dehydrogenase flavoprotein", "type": "synonym" }, { "name": "succinate dehydrogenase, subunit A (flavoprotein), isoform A", "type": "synonym" }, { "name": "succinyl CoA synthetase flavoprotein subunit of complex II", "type": "synonym" }, { "name": "succinyl coenzyme A synthetase flavoprotein subunit", "type": "synonym" } ], "gene_names": [ { "name": "SdhA", "type": "recommended" }, { "name": "2R1", "type": "synonym" }, { "name": "CG17246", "type": "synonym" }, { "name": "DHSA", "type": "synonym" }, { "name": "Dmel\\CG17246", "type": "synonym" }, { "name": "SDH", "type": "synonym" }, { "name": "Scs-fp", "type": "synonym" }, { "name": "Sdh A", "type": "synonym" }, { "name": "SdhA", "type": "synonym" }, { "name": "Sdha", "type": "synonym" }, { "name": "Sdh", "type": "synonym" }, { "name": "dSDHA", "type": "synonym" }, { "name": "scs-fp", "type": "synonym" }, { "name": "sdhA", "type": "synonym" }, { "name": "sdh", "type": "synonym" } ], "record_id": "Q94523-1", "evidence": [ { "id": "0050773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050773" } ] }, { "uniprot_canonical_ac": "P46527-1", "uniprot_ac": "P46527", "uniprot_id": "CDN1B_HUMAN", "refseq_ac": "NP_004055", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Cyclin-dependent kinase inhibitor 1B", "type": "recommended" }, { "name": "Cyclin-dependent kinase inhibitor p27", "type": "synonym" }, { "name": "cyclin-dependent kinase inhibitor 1B (p27, Kip1)", "type": "synonym" }, { "name": "cyclin-dependent kinase inhibitor 1B", "type": "synonym" }, { "name": "p27Kip1", "type": "synonym" } ], "gene_names": [ { "name": "CDKN1B", "type": "recommended" }, { "name": "CDKN1B", "type": "synonym" }, { "name": "CDKN4", "type": "synonym" }, { "name": "KIP1", "type": "synonym" }, { "name": "MEN1B", "type": "synonym" }, { "name": "MEN4", "type": "synonym" }, { "name": "P27KIP1", "type": "synonym" }, { "name": "p27", "type": "synonym" } ], "record_id": "P46527-1", "evidence": [ { "id": "0050773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050773" } ] }, { "uniprot_canonical_ac": "Q99643-1", "uniprot_ac": "Q99643", "uniprot_id": "C560_HUMAN", "refseq_ac": "NP_001030588", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Succinate dehydrogenase cytochrome b560 subunit, mitochondrial", "type": "recommended" }, { "name": "CYBL", "type": "synonym" }, { "name": "Integral membrane protein CII-3", "type": "synonym" }, { "name": "Malate dehydrogenase [quinone] cytochrome b560 subunit", "type": 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mitochondrial isoform 2 precursor", "type": "synonym" }, { "name": "succinate dehydrogenase cytochrome b560 subunit, mitochondrial", "type": "synonym" }, { "name": "succinate-ubiquinone oxidoreductase cytochrome B large subunit", "type": "synonym" } ], "gene_names": [ { "name": "SDHC", "type": "recommended" }, { "name": "CYB560", "type": "synonym" }, { "name": "CYBL", "type": "synonym" }, { "name": "PGL3", "type": "synonym" }, { "name": "PPGL3", "type": "synonym" }, { "name": "QPS1", "type": "synonym" }, { "name": "SDH3", "type": "synonym" }, { "name": "SDHC", "type": "synonym" } ], "record_id": "Q99643-1", "evidence": [ { "id": "0050773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050773" } ] }, { "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": "0050773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050773" } ] }, { "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": "0050773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050773" } ] }, { "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": "0050773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050773" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0050773" }