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"Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "lysophospholipase", "type": "recommended" }, { "name": "3.1.1.5", "type": "synonym" }, { "name": "patatin-like phospholipase domain-containing protein 6 isoform X2", "type": "synonym" } ], "gene_names": [ { "name": "pnpla6", "type": "recommended" }, { "name": "pnpla6", "type": "synonym" } ], "record_id": "A0A8M2B6R2-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "A0A8M1Q6V5-1", "uniprot_ac": "A0A8M1Q6V5", "uniprot_id": "A0A8M1Q6V5_DANRE", "refseq_ac": "XP_001332388", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Alanine--tRNA ligase", "type": "recommended" }, { "name": "6.1.1.7", "type": "synonym" }, { "name": 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"chac", "type": "synonym" }, { "name": "vps13a", "type": "synonym" }, { "name": "wu:fc10c04", "type": "synonym" } ], "record_id": "A0A8M2BET3-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "A0A8M9P9K9-1", "uniprot_ac": "A0A8M9P9K9", "uniprot_id": "A0A8M9P9K9_DANRE", "refseq_ac": "XP_021327607", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Intermembrane lipid transfer protein VPS13C isoform X1", "type": "synonym" }, { "name": "intermembrane lipid transfer protein VPS13C isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "vps13c", "type": "recommended" }, { "name": "vps13c", "type": "synonym" } ], "record_id": "A0A8M9P9K9-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "P97445-1", "uniprot_ac": "P97445", "uniprot_id": "CAC1A_MOUSE", "refseq_ac": "NP_031604", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Voltage-dependent P/Q-type calcium channel subunit alpha-1A", "type": "recommended" }, { "name": "BI", "type": "synonym" }, { "name": "Brain calcium channel I", "type": "synonym" }, { "name": "Calcium channel, L type, alpha-1 polypeptide isoform 4", "type": "synonym" }, { "name": "Voltage-gated calcium channel subunit alpha Cav2.1", "type": "synonym" }, { "name": "brain calcium channel I", "type": "synonym" }, { "name": "calcium channel, L type, alpha-1 polypeptide", "type": "synonym" }, { "name": "leaner", "type": "synonym" }, { "name": "rocker", "type": "synonym" }, { "name": "tottering", "type": "synonym" }, { "name": "voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 1", "type": "synonym" }, { "name": "voltage-dependent P/Q-type calcium channel subunit alpha-1A", "type": "synonym" }, { "name": "voltage-gated calcium channel subunit alpha Cav2.1", "type": "synonym" } ], "gene_names": [ { "name": "Cacna1a", "type": "recommended" }, { "name": "APCA", "type": "synonym" }, { "name": "BI", "type": "synonym" }, { "name": "Caca1a", "type": "synonym" }, { "name": "Cach4", "type": "synonym" }, { "name": "Cacn3", "type": "synonym" }, { "name": "Cacna1a", "type": "synonym" }, { "name": "Cacnl1a4", "type": "synonym" }, { "name": "Cav2.1", "type": "synonym" }, { "name": "Ccha1a", "type": "synonym" }, { "name": "EA2", "type": "synonym" }, { "name": "FHM", "type": "synonym" }, { "name": "HPCA", "type": "synonym" }, { "name": "MHP1", "type": "synonym" }, { "name": "MHP", "type": "synonym" }, { "name": "SCA6", "type": "synonym" }, { "name": "alpha1A", "type": "synonym" }, { "name": "la", "type": "synonym" }, { "name": "nmf352", "type": "synonym" }, { "name": "rkr", "type": "synonym" }, { "name": "smrl", "type": "synonym" }, { "name": "tg", "type": "synonym" } ], "record_id": "P97445-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "Q8BHE3-1", "uniprot_ac": "Q8BHE3", "uniprot_id": "ATCAY_MOUSE", "refseq_ac": "NP_848777", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Caytaxin", "type": "recommended" }, { "name": "ataxia, cerebellar, Cayman type homolog", "type": "synonym" }, { "name": "caytaxin", "type": "synonym" }, { "name": "hesitant", "type": "synonym" }, { "name": "jittery", "type": "synonym" } ], "gene_names": [ { "name": "Atcay", "type": "recommended" }, { "name": "3322401A10Rik", "type": "synonym" }, { "name": "Atcay", "type": "synonym" }, { "name": "BNIP-H", "type": "synonym" }, { "name": "CLAC", "type": "synonym" }, { "name": "hes", "type": "synonym" }, { "name": "ji", "type": "synonym" } ], "record_id": "Q8BHE3-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "Q91YP0-1", "uniprot_ac": "Q91YP0", "uniprot_id": "L2HDH_MOUSE", "refseq_ac": "NP_663418", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "L-2-hydroxyglutarate dehydrogenase, mitochondrial", "type": "recommended" }, { "name": "1.1.99.2", "type": "synonym" }, { "name": "Duranin", "type": "synonym" }, { "name": "L-2-hydroxyglutarate dehydrogenase, mitochondrial precursor", "type": "synonym" }, { "name": "L-2-hydroxyglutarate dehydrogenase, mitochondrial", "type": "synonym" 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"name": "Synaptic nuclear envelope protein 1", "type": "synonym" }, { "name": "Syne-1", "type": "synonym" }, { "name": "enaptin165", "type": "synonym" }, { "name": "enaptin", "type": "synonym" }, { "name": "myocyte nuclear envelope protein 1", "type": "synonym" }, { "name": "nesprin 1", "type": "synonym" }, { "name": "nesprin-1 isoform 3", "type": "synonym" }, { "name": "nuclear envelope spectrin repeat protein 1", "type": "synonym" }, { "name": "synaptic nuclear envelope 1", "type": "synonym" }, { "name": "synaptic nuclear envelope protein 1", "type": "synonym" } ], "gene_names": [ { "name": "Syne1", "type": "recommended" }, { "name": "8B", "type": "synonym" }, { "name": "A330049M09Rik", "type": "synonym" }, { "name": "C130039F11Rik", "type": "synonym" }, { "name": "CPG2", "type": "synonym" }, { "name": "KASH1", "type": "synonym" }, { "name": "Myne1", "type": "synonym" }, { "name": "Syne1", "type": "synonym" }, { "name": "mKIAA1756", "type": "synonym" }, { "name": "myne-1", "type": "synonym" } ], "record_id": "Q6ZWR6-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "Q8CG73-1", "uniprot_ac": "Q8CG73", "uniprot_id": "FTM_MOUSE", "refseq_ac": "NP_775607", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Protein fantom", "type": "recommended" }, { "name": "Nephrocystin-8", "type": "synonym" }, { "name": "RPGR-interacting protein 1-like protein", "type": "synonym" }, { "name": "RPGRIP1-like protein", "type": "synonym" }, { "name": "fantom", "type": "synonym" }, { "name": "nephrocystin-8", "type": "synonym" }, { "name": "protein fantom", "type": "synonym" } ], "gene_names": [ { "name": "Rpgrip1l", "type": "recommended" }, { "name": "1700047E16Rik", "type": "synonym" }, { "name": "4931437C01", "type": "synonym" }, { 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"type": "synonym" }, { "name": "PolgA", "type": "synonym" } ], "gene_names": [ { "name": "Polg", "type": "recommended" }, { "name": "Polg1", "type": "synonym" } ], "record_id": "P54099-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "Q3TRM4-1", "uniprot_ac": "Q3TRM4", "uniprot_id": "PLPL6_MOUSE", "refseq_ac": "NP_001116290", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Patatin-like phospholipase domain-containing protein 6", "type": "recommended" }, { "name": "3.1.1.5", "type": "synonym" }, { "name": "Neuropathy target esterase", "type": "synonym" }, { "name": "Swiss-cheese", "type": "synonym" }, { "name": "neuropathy target esterase", "type": "synonym" }, { "name": "patatin-like phospholipase domain-containing protein 6 isoform 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esterase", "type": "synonym" }, { "name": "Neuropathy target esterase-related esterase", "type": "synonym" }, { "name": "neuropathy target esterase-related esterase", "type": "synonym" }, { "name": "patatin-like phospholipase domain-containing protein 7", "type": "synonym" } ], "gene_names": [ { "name": "Pnpla7", "type": "recommended" }, { "name": "E430013P11Rik", "type": "synonym" }, { "name": "Nre", "type": "synonym" }, { "name": "Pnpla7", "type": "synonym" } ], "record_id": "A2AJ88-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "Q5H8C4-1", "uniprot_ac": "Q5H8C4", "uniprot_id": "VP13A_MOUSE", "refseq_ac": "NP_766616", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Intermembrane lipid transfer protein VPS13A", "type": "recommended" }, { "name": "Chorea-acanthocytosis protein homolog", "type": "synonym" }, { "name": "Chorein", "type": "synonym" }, { "name": "Vacuolar protein sorting-associated protein 13A", "type": "synonym" }, { "name": "chorea-acanthocytosis protein homolog", "type": "synonym" }, { "name": "intermembrane lipid transfer protein VPS13A", "type": "synonym" }, { "name": "vacuolar protein sorting-associated protein 13A", "type": "synonym" } ], "gene_names": [ { "name": "Vps13a", "type": "recommended" }, { "name": "4930425F11", "type": "synonym" }, { "name": "4930516E05Rik", "type": "synonym" }, { "name": "4930543C13Rik", "type": "synonym" }, { "name": "9930023P20", "type": "synonym" }, { "name": "Chac", "type": "synonym" }, { "name": "Chorein", "type": "synonym" }, { "name": "D330038K10Rik", "type": "synonym" }, { "name": "Kiaa0986", "type": "synonym" }, { "name": "Vps13a", "type": "synonym" }, { "name": "mKIAA0986", "type": "synonym" } ], "record_id": "Q5H8C4-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "Q8BGQ7-1", "uniprot_ac": "Q8BGQ7", "uniprot_id": "SYAC_MOUSE", "refseq_ac": "NP_666329", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Alanine--tRNA ligase, cytoplasmic", "type": "recommended" }, { "name": "6.-.-.-", "type": "synonym" }, { "name": "6.1.1.7", "type": "synonym" }, { "name": "AlaRS", "type": "synonym" }, { "name": "Alanyl-tRNA synthetase", "type": "synonym" }, { "name": "Protein lactyltransferase AARS1", "type": "synonym" }, { "name": "Protein sticky", "type": "synonym" }, { "name": "Sti", "type": "synonym" }, { "name": "alaRS", "type": "synonym" }, { "name": "alanine--tRNA ligase, cytoplasmic", "type": "synonym" }, { "name": "alanyl-tRNA synthetase, cytoplasmic", "type": "synonym" }, { 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"name": "vacuolar protein sorting-associated protein 13C", "type": "synonym" } ], "gene_names": [ { "name": "Vps13c", "type": "recommended" }, { "name": "C230055H22Rik", "type": "synonym" }, { "name": "Kiaa3021", "type": "synonym" }, { "name": "Vps13c", "type": "synonym" }, { "name": "chorein", "type": "synonym" } ], "record_id": "Q8BX70-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "Q14CH7-1", "uniprot_ac": "Q14CH7", "uniprot_id": "SYAM_MOUSE", "refseq_ac": "NP_941010", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Alanine--tRNA ligase, mitochondrial", "type": "recommended" }, { "name": "6.-.-.-", "type": "synonym" }, { "name": "6.1.1.7", "type": "synonym" }, { "name": "AlaRS", "type": "synonym" }, { "name": "Alanyl-tRNA synthetase", "type": "synonym" }, { "name": "Protein lactyltransferase AARS2", "type": "synonym" }, { "name": "alanine--tRNA ligase, mitochondrial isoform 1 precursor", "type": "synonym" }, { "name": "alanine--tRNA ligase, mitochondrial", "type": "synonym" }, { "name": "alanyl-tRNA synthetase, mitochondrial", "type": "synonym" }, { "name": "protein lactyltransferase AARS2", "type": "synonym" } ], "gene_names": [ { "name": "Aars2", "type": "recommended" }, { "name": "Aars2", "type": "synonym" }, { "name": "Aarsl", "type": "synonym" }, { "name": "AlaRS", "type": "synonym" }, { "name": "Gm89", "type": "synonym" }, { "name": "Kiaa1270", "type": "synonym" } ], "record_id": "Q14CH7-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "Q8BX17-1", "uniprot_ac": "Q8BX17", "uniprot_id": "GEMI5_MOUSE", "refseq_ac": "NP_001160141", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Gem-associated protein 5", "type": "recommended" }, { "name": "Gemin5", "type": "synonym" }, { "name": "gem-associated protein 5 isoform 1", "type": "synonym" }, { "name": "gem-associated protein 5", "type": "synonym" } ], "gene_names": [ { "name": "Gemin5", "type": "recommended" }, { "name": "C330013N08", "type": "synonym" }, { "name": "Gemin5", "type": "synonym" } ], "record_id": "Q8BX17-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "P40825-1", "uniprot_ac": "P40825", "uniprot_id": "SYA_YEAST", "refseq_ac": "NP_014980", "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": "Alanine--tRNA ligase, mitochondrial", "type": "recommended" }, { "name": "6.1.1.7", "type": "synonym" }, { "name": "AlaRS", "type": "synonym" }, { "name": "Alanyl-tRNA synthetase", "type": "synonym" }, { "name": "alanine--tRNA ligase", "type": "synonym" } ], "gene_names": [ { "name": "ALA1", "type": "recommended" }, { "name": "ALA1", "type": "synonym" }, { "name": "CDC64", "type": "synonym" } ], "record_id": "P40825-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "Q07878-1", "uniprot_ac": "Q07878", "uniprot_id": "VPS13_YEAST", "refseq_ac": "NP_013060", "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": "Intermembrane lipid transfer protein VPS13", "type": "recommended" }, { "name": "Suppression of the onset of impotence protein 1", "type": "synonym" }, { "name": "Vacuolar protein sorting-associated protein 13", "type": "synonym" }, { "name": "Vacuolar protein-targeting protein 2", "type": "synonym" }, { "name": "membrane morphogenesis protein VPS13", "type": "synonym" } ], "gene_names": [ { "name": "VPS13", "type": "recommended" }, { "name": "SOI1", "type": "synonym" }, { "name": "VPS13", "type": "synonym" }, { "name": "VPT2", "type": "synonym" }, { "name": "YME3", "type": "synonym" } ], "record_id": "Q07878-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "P15801-1", "uniprot_ac": "P15801", "uniprot_id": "DPOG_YEAST", "refseq_ac": "NP_014975", "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": "DNA polymerase gamma", "type": "recommended" }, { "name": "2.7.7.7", "type": "synonym" }, { "name": "DNA-directed DNA polymerase gamma MIP1", "type": "synonym" }, { "name": "Mitochondrial DNA polymerase catalytic subunit", "type": "synonym" } ], "gene_names": [ { "name": "MIP1", "type": "recommended" }, { "name": "MIP1", "type": "synonym" } ], "record_id": "P15801-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "Q04958-1", "uniprot_ac": "Q04958", "uniprot_id": "NTE1_YEAST", "refseq_ac": "NP_013652", "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": "Lysophospholipase NTE1", "type": "recommended" }, { "name": "3.1.1.5", "type": "synonym" }, { "name": "Intracellular phospholipase B", "type": "synonym" }, { "name": "Neuropathy target esterase homolog", "type": "synonym" }, { "name": "lysophospholipase", "type": "synonym" } ], "gene_names": [ { "name": "NTE1", "type": "recommended" }, { "name": "NTE1", "type": "synonym" }, { "name": "YM9958.03C", "type": "synonym" } ], "record_id": "Q04958-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "Q1M168-1", "uniprot_ac": "Q1M168", "uniprot_id": "ATCAY_RAT", "refseq_ac": "NP_001035280", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Caytaxin", "type": "recommended" }, { "name": "ATCAY, caytaxin", "type": "synonym" }, { "name": "ataxia, cerebellar, Cayman type", "type": "synonym" }, { "name": "caytaxin", "type": "synonym" } ], "gene_names": [ { "name": "Atcay", "type": "recommended" }, { "name": "Atcay", "type": "synonym" } ], "record_id": "Q1M168-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "D3ZVS2-1", "uniprot_ac": "D3ZVS2", "uniprot_id": "D3ZVS2_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": "L-2-hydroxyglutarate dehydrogenase, mitochondrial", "type": "recommended" }, { "name": "1.1.99.2", "type": "synonym" } ], "gene_names": [ { "name": "L2hgdh", "type": "recommended" } ], "record_id": "D3ZVS2-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "A0ABK0LEP2-1", "uniprot_ac": "A0ABK0LEP2", "uniprot_id": "A0ABK0LEP2_RAT", "refseq_ac": "NP_001406778", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Nesprin-1", "type": "recommended" }, { "name": "Enaptin", "type": "synonym" }, { "name": "KASH domain-containing protein 1", "type": "synonym" }, { "name": "Myocyte nuclear envelope protein 1", "type": "synonym" }, { "name": "Nuclear envelope spectrin repeat protein 1", "type": "synonym" }, { "name": "Synaptic nuclear envelope protein 1", "type": "synonym" }, { "name": "nesprin-1-like", "type": "synonym" }, { "name": "nesprin-1", "type": "synonym" }, { "name": "spectrin repeat containing, nuclear envelope 1", "type": "synonym" } ], "gene_names": [ { "name": "Syne1", "type": "recommended" }, { "name": "CPG2", "type": "synonym" }, { "name": "Myne-1", "type": "synonym" }, { "name": "Syne1", "type": "synonym" } ], "record_id": "A0ABK0LEP2-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "A0ABK0L5P7-1", "uniprot_ac": "A0ABK0L5P7", "uniprot_id": "A0ABK0L5P7_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": "Protein fantom", "type": "recommended" }, { "name": "Nephrocystin-8", "type": "synonym" }, { "name": "RPGR-interacting protein 1-like protein", "type": "synonym" } ], "gene_names": [ { "name": "Rpgrip1l", "type": "recommended" } ], "record_id": "A0ABK0L5P7-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "Q9QYV8-1", "uniprot_ac": "Q9QYV8", "uniprot_id": "DPOG1_RAT", "refseq_ac": "NP_445980", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "DNA polymerase subunit gamma-1", "type": "recommended" }, { "name": "2.7.7.7", "type": "synonym" }, { "name": "3'-5' exodeoxyribonuclease", "type": "synonym" }, { "name": "3.1.11.-", "type": "synonym" }, { "name": "4.2.99.-", "type": "synonym" }, { "name": "5'-deoxyribose-phosphate lyase", "type": "synonym" }, { "name": "DNA polymerase subunit gamma-1", "type": "synonym" }, { "name": "DNA-directed DNA polymerase gamma", "type": "synonym" }, { "name": "Mitochondrial DNA polymerase catalytic subunit", "type": "synonym" }, { "name": "PolG-alpha", "type": "synonym" }, { "name": "mitochondrial DNA polymerase catalytic subunit", "type": "synonym" }, { "name": "polG-alpha", "type": "synonym" }, { "name": "polymerase (DNA directed), gamma", "type": "synonym" }, { "name": "polymerase (DNA) gamma, catalytic subunit", "type": "synonym" } ], "gene_names": [ { "name": "Polg", "type": "recommended" }, { "name": "Mip1", "type": "synonym" }, { "name": "Polg1", "type": "synonym" }, { "name": "Polg", "type": "synonym" } ], "record_id": "Q9QYV8-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "Q5BK26-1", "uniprot_ac": "Q5BK26", "uniprot_id": "PLPL7_RAT", "refseq_ac": "NP_653339", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Patatin-like phospholipase domain-containing protein 7", "type": "recommended" }, { "name": "3.1.1.-", "type": "synonym" }, { "name": "3.1.1.5", "type": "synonym" }, { "name": "Liver NTE-related protein 1", "type": "synonym" }, { "name": "NTE-related esterase", "type": "synonym" }, { "name": "liver NTE-related protein 1", "type": "synonym" }, { "name": "neuropathy target esterase like 1", "type": "synonym" }, { "name": "patatin-like phospholipase domain containing 7", "type": "synonym" }, { "name": "patatin-like phospholipase domain-containing protein 7-like", "type": "synonym" }, { "name": "patatin-like phospholipase domain-containing protein 7", "type": "synonym" } ], "gene_names": [ { "name": "Pnpla7", "type": "recommended" }, { "name": "Nre", "type": "synonym" }, { "name": "Nte-related", "type": "synonym" }, { "name": "Ntel1", "type": "synonym" }, { "name": "Ntel", "type": "synonym" }, { "name": "Pnpla7", "type": "synonym" } ], "record_id": "Q5BK26-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "M0R715-1", "uniprot_ac": "M0R715", "uniprot_id": "M0R715_RAT", "refseq_ac": "XP_008767229", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "lysophospholipase", "type": "recommended" }, { "name": "3.1.1.5", "type": "synonym" }, { "name": "patatin-like phospholipase domain-containing protein 6 isoform X6", "type": "synonym" } ], "gene_names": [ { "name": "Pnpla6", "type": "recommended" }, { "name": "Pnpla6", "type": "synonym" }, { "name": "RGD1564611", "type": "synonym" } ], "record_id": "M0R715-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "D3ZX08-1", "uniprot_ac": "D3ZX08", "uniprot_id": "SYAM_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": "Alanine--tRNA ligase, mitochondrial", "type": "recommended" }, { "name": "6.-.-.-", "type": "synonym" }, { 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"type": "synonym" }, { "name": "Protein lactyltransferase AARS1", "type": "synonym" }, { "name": "alaRS", "type": "synonym" }, { "name": "alanine--tRNA ligase, cytoplasmic", "type": "synonym" }, { "name": "alanyl-tRNA synthetase, cytoplasmic", "type": "synonym" }, { "name": "protein lactyltransferase AARS1", "type": "synonym" } ], "gene_names": [ { "name": "Aars1", "type": "recommended" }, { "name": "Aars1", "type": "synonym" }, { "name": "Aars", "type": "synonym" } ], "record_id": "P50475-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "A0A8I5ZMR7-1", "uniprot_ac": "A0A8I5ZMR7", "uniprot_id": "A0A8I5ZMR7_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": "Vacuolar protein sorting 13 homolog C", "type": "synonym" } ], "gene_names": [ { "name": "Vps13c", "type": "recommended" } ], "record_id": "A0A8I5ZMR7-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "A0A8I6A4A2-1", "uniprot_ac": "A0A8I6A4A2", "uniprot_id": "A0A8I6A4A2_RAT", "refseq_ac": "NP_001094445", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Vacuolar protein sorting 13 homolog A", "type": "synonym" }, { "name": "chorein", "type": "synonym" }, { "name": "intermembrane lipid transfer protein VPS13A", "type": "synonym" }, { "name": "vacuolar protein sorting 13A", "type": "synonym" }, { "name": "vacuolar protein sorting-associated protein 13A", "type": "synonym" } ], "gene_names": [ { "name": "Vps13a", "type": "recommended" }, { "name": "RGD1311340", "type": "synonym" }, { "name": "Vps13a", "type": "synonym" } ], "record_id": "A0A8I6A4A2-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "P54282-1", "uniprot_ac": "P54282", "uniprot_id": "CAC1A_RAT", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Voltage-dependent P/Q-type calcium channel subunit alpha-1A", "type": "recommended" }, { "name": "BI", "type": "synonym" }, { "name": "Brain calcium channel I", "type": "synonym" }, { "name": "Calcium channel, L type, alpha-1 polypeptide, isoform 4", "type": "synonym" }, { "name": "RBA-I", "type": "synonym" }, { "name": "Rat brain class A", "type": "synonym" }, { "name": "Voltage-gated calcium channel subunit alpha Cav2.1", "type": "synonym" } ], "gene_names": [ { "name": "Cacna1a", "type": "recommended" }, { "name": "Cach4", "type": "synonym" }, { "name": "Cacn3", "type": "synonym" }, { "name": "Cacnl1a4", "type": "synonym" } ], "record_id": "P54282-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "Q9VZJ4-1", "uniprot_ac": "Q9VZJ4", "uniprot_id": "Q9VZJ4_DROME", "refseq_ac": "NP_001261392", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CRAL-TRIO domain-containing protein", "type": "recommended" }, { "name": "CG11593-PC", "type": "synonym" }, { "name": "uncharacterized protein, isoform C", "type": "synonym" } ], "gene_names": [ { "name": "anon-EST:Posey64", "type": "recommended" }, { "name": "CG11593", "type": "synonym" }, { "name": "Dmel\\CG11593", "type": "synonym" }, { "name": "Dmel_CG11593", "type": "synonym" }, { "name": "anon-EST:Posey64", "type": "synonym" } ], "record_id": "Q9VZJ4-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "Q9VJ28-1", "uniprot_ac": "Q9VJ28", "uniprot_id": "Q9VJ28_DROME", "refseq_ac": "NP_001286076", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "L-2-hydroxyglutarate dehydrogenase, mitochondrial", "type": "recommended" }, { "name": "1.1.99.2", "type": "synonym" }, { "name": "CG10639-PB", "type": "synonym" }, { "name": "L-2-hydroxyglutarate dehydrogenase, isoform B", "type": "synonym" }, { "name": "L2HGDH-PB", "type": "synonym" } ], "gene_names": [ { "name": "L2HGDH", "type": "recommended" }, { "name": "CG10639", "type": "synonym" }, { "name": "Dmel\\CG10639", "type": "synonym" }, { "name": "Dmel_CG10639", "type": "synonym" }, { "name": "L-2-HGDH", "type": "synonym" }, { "name": "L2HGDH", "type": "synonym" }, { "name": "dL2HGDH", "type": "synonym" } ], "record_id": "Q9VJ28-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "M9MRD1-1", "uniprot_ac": "M9MRD1", "uniprot_id": "MS300_DROME", "refseq_ac": "NP_001188694", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Muscle-specific protein 300 kDa", "type": "recommended" }, { "name": "Box B-binding factor 1", "type": "synonym" }, { "name": "CG42768-PD", "type": "synonym" }, { "name": "Msp-300", "type": "synonym" }, { "name": "Msp300-PD", "type": "synonym" }, { "name": "Muscle-specific protein 300 kDa, isoform D", "type": "synonym" }, { "name": "Muscle-specific protein 300", "type": "synonym" }, { "name": "Muscle-specific protein, 300 kDa", "type": "synonym" }, { "name": "Muscle-specific protein-300", "type": "synonym" }, { "name": "Nesprin-like protein Msp300", "type": "synonym" }, { "name": "Nesprin1", "type": "synonym" }, { "name": "lethal(2)25Ch", "type": "synonym" }, { "name": "nesprin", "type": "synonym" }, { "name": "repetitive ORF", "type": "synonym" } ], "gene_names": [ { "name": "Msp300", "type": "recommended" }, { "name": "BBF-1", "type": "synonym" }, { "name": "Bbbf1", "type": "synonym" }, { "name": "BcDNA:AT10293", "type": "synonym" }, { "name": "BcDNA:GH02446", "type": "synonym" }, { "name": "BcDNA:GH18470", "type": "synonym" }, { "name": "BcDNA:LP10936", "type": "synonym" }, { "name": "CG14035", "type": "synonym" }, { "name": "CG18251", "type": "synonym" }, { "name": "CG18252", "type": "synonym" }, { "name": "CG31649", "type": "synonym" }, { "name": "CG31916", "type": "synonym" }, { "name": "CG33549", "type": "synonym" }, { "name": "CG33715", "type": "synonym" }, { "name": "CG42768", "type": "synonym" }, { "name": "Dmel\\CG42768", "type": "synonym" }, { "name": "Dmel_CG42768", "type": "synonym" }, { "name": "MSP-300", "type": "synonym" }, { "name": "MSP300", "type": "synonym" }, { "name": "Msp-300", "type": "synonym" }, { "name": "Msp300", "type": "synonym" }, { "name": "Spec25CD", "type": "synonym" }, { "name": "dNesp1", "type": "synonym" }, { "name": "jf22", "type": "synonym" }, { "name": "l(2)25Ch", "type": "synonym" }, { "name": "l(2)jf22", "type": "synonym" }, { "name": "msp-300", "type": "synonym" }, { "name": "msp300", "type": "synonym" } ], "record_id": "M9MRD1-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "Q27607-1", "uniprot_ac": "Q27607", "uniprot_id": "DPOG1_DROME", "refseq_ac": "NP_476821", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "DNA polymerase subunit gamma-1, mitochondrial", "type": "recommended" }, { "name": "2.7.7.7", "type": "synonym" }, { "name": "3'-5' exodeoxyribonuclease", "type": "synonym" }, { "name": "3.1.11.-", "type": "synonym" }, { "name": "CG8987-PA", "type": "synonym" }, { "name": "DNA polymerase gamma 125kD", "type": "synonym" }, { "name": "DNA polymerase gamma subunit 1", "type": "synonym" }, { "name": "DNA polymerase gamma", "type": "synonym" }, { "name": "Mitochondrial DNA polymerase catalytic subunit", "type": "synonym" }, { "name": "PolG1-PA", "type": "synonym" }, { "name": "Protein tamas", "type": "synonym" }, { "name": "alpha subunit", "type": "synonym" }, { "name": "catalytic subunit of the mitochondrial DNA polymerase", "type": "synonym" }, { "name": "catalytic(alpha)subunit", "type": "synonym" }, { "name": "lethal 14 in the black-reduced region", "type": "synonym" }, { "name": "lethal 5 in the black-reduced region", "type": "synonym" }, { "name": "lethal(2)34Dc", "type": "synonym" }, { "name": "mitochondrial gamma polymerase", "type": "synonym" }, { "name": "mtDNA pol-gamma", "type": "synonym" }, { "name": "mtDNA polymerase alpha", "type": "synonym" }, { "name": "tamas", "type": "synonym" } ], "gene_names": [ { "name": "PolG1", "type": "recommended" }, { "name": "34Dc", "type": "synonym" }, { "name": "AAC47658", "type": "synonym" }, { "name": "BG:DS00941.6", "type": "synonym" }, { "name": "CG8987", "type": "synonym" }, { "name": "D-pol gamma-alpha", "type": "synonym" }, { "name": "DNApol-gamma125", "type": "synonym" }, { "name": "DNApol-gamma", "type": "synonym" }, { "name": "DNApolG1", "type": "synonym" }, { "name": "DmPOLgammaA", "type": "synonym" }, { "name": "DmPolgammaA", "type": "synonym" }, { "name": "Dmel\\CG8987", "type": "synonym" }, { "name": "MtPolA", "type": "synonym" }, { "name": "POLGalpha", "type": "synonym" }, { "name": "POLG", "type": "synonym" }, { "name": "Pol gamma", "type": "synonym" }, { "name": "PolG1", "type": "synonym" }, { "name": "PolG", "type": "synonym" }, { "name": "PolgA", "type": "synonym" }, { "name": "Polgamma-alpha", "type": "synonym" }, { "name": "Polgamma", "type": "synonym" }, { "name": "Polg", "type": "synonym" }, { "name": "Tam", "type": "synonym" }, { "name": "anon-34Dc", "type": "synonym" }, { "name": "br5", "type": "synonym" }, { "name": "cDNA 2", "type": "synonym" }, { "name": "l(2)34Dc", "type": "synonym" }, { "name": "l(2)br14", "type": "synonym" }, { "name": "l(2)br5", "type": "synonym" }, { "name": "l(2)brS", "type": "synonym" }, { "name": "mtDNA pol", "type": "synonym" }, { "name": "mtPolA", "type": "synonym" }, { "name": "pol gamma-alpha", "type": "synonym" }, { "name": "pol gamma", "type": "synonym" }, { "name": "polgamma-alpha", "type": "synonym" }, { "name": "polgamma", "type": "synonym" }, { "name": "tam", "type": "synonym" } ], "record_id": "Q27607-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "A1Z713-1", "uniprot_ac": "A1Z713", "uniprot_id": "VPS13_DROME", "refseq_ac": "NP_001260781", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Intermembrane lipid transfer protein Vps13", "type": "recommended" }, { "name": "CG2093-PB", "type": "synonym" }, { "name": "Vacuolar protein sorting-associated protein 13", "type": "synonym" }, { "name": "Vps13-PB", "type": "synonym" }, { "name": "vacuolar protein sorting 13, isoform B", "type": "synonym" } ], "gene_names": [ { "name": "Vps13", "type": "recommended" }, { "name": "BEST:LD02743", "type": "synonym" }, { "name": "CG2093", "type": "synonym" }, { "name": "Dmel\\CG2093", "type": "synonym" }, { "name": "Vps13", "type": "synonym" } ], "record_id": "A1Z713-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "Q9VRJ1-1", "uniprot_ac": "Q9VRJ1", "uniprot_id": "SYAM_DROME", "refseq_ac": "NP_523932", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Alanine--tRNA ligase, mitochondrial", "type": "recommended" }, { "name": "6.1.1.7", "type": "synonym" }, { "name": "AlaRS-m-PA", "type": "synonym" }, { "name": "AlaRS", "type": "synonym" }, { "name": "Alanyl-tRNA synthetase, mitochondrial", "type": "synonym" }, { "name": "Alanyl-tRNA synthetase", "type": "synonym" }, { "name": "CG4633-PA", "type": "synonym" }, { "name": "mitochondrial alanyl-tRNA synthetase", "type": "synonym" } ], "gene_names": [ { "name": "AlaRS-m", "type": "recommended" }, { "name": "Aats-ala-m", "type": "synonym" }, { "name": "AlaRS-m", "type": "synonym" }, { "name": "AlaS", "type": "synonym" }, { "name": "CG4633", "type": "synonym" }, { "name": "Dm mt AlaRS", "type": "synonym" }, { "name": "Dmel\\CG4633", "type": "synonym" }, { "name": "alaS", "type": "synonym" } ], "record_id": "Q9VRJ1-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "Q9VLM8-1", "uniprot_ac": "Q9VLM8", "uniprot_id": "SYAC_DROME", "refseq_ac": "NP_523511", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Alanine--tRNA ligase, cytoplasmic", "type": "recommended" }, { "name": "6.1.1.7", "type": "synonym" }, { "name": "AlaRS-PA", "type": "synonym" }, { "name": "AlaRS", "type": "synonym" }, { "name": "Alanyl-tRNA synthetase, isoform A", "type": "synonym" }, { "name": "Alanyl-tRNA synthetase", "type": "synonym" }, { "name": "CG13391-PA", "type": "synonym" } ], "gene_names": [ { "name": "AlaRS", "type": "recommended" }, { "name": "AARS", "type": "synonym" }, { "name": "ARS", "type": "synonym" }, { "name": "Aats-ala", "type": "synonym" }, { "name": "AlaRS", "type": "synonym" }, { "name": "CG13391", "type": "synonym" }, { "name": "Dmel\\CG13391", "type": "synonym" }, { "name": "alaS", "type": "synonym" }, { "name": "dAARS", "type": "synonym" } ], "record_id": "Q9VLM8-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "P91645-1", "uniprot_ac": "P91645", "uniprot_id": "CAC1A_DROME", "refseq_ac": "NP_001245639", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Voltage-dependent calcium channel type A subunit alpha-1", "type": "recommended" }, { "name": "CG43368-PO", "type": "synonym" }, { "name": "Dmca1A", "type": "synonym" }, { "name": "Protein cacophony", "type": "synonym" }, { "name": "Protein nightblind A", "type": "synonym" }, { "name": "Protein no-on-transient B", "type": "synonym" }, { "name": "cac-PO", "type": "synonym" }, { "name": "cacaphony", "type": "synonym" }, { "name": "cacophany", "type": "synonym" }, { "name": "cacophony, isoform O", "type": "synonym" }, { "name": "cacophony", "type": "synonym" }, { "name": "cactus", "type": "synonym" }, { "name": "calcium channel alpha1 subunit, type A", "type": "synonym" }, { "name": "lamina-degeneration", "type": "synonym" }, { "name": "lethal(1)11Aa", "type": "synonym" }, { "name": "night blind A", "type": "synonym" }, { "name": "nightblind A", "type": "synonym" }, { "name": "no-on-transient B", "type": "synonym" } ], "gene_names": [ { "name": "cac", "type": "recommended" }, { "name": "13", "type": "synonym" }, { "name": "CAC", "type": "synonym" }, { "name": "CG1522", "type": "synonym" }, { "name": "CG15928", "type": "synonym" }, { "name": "CG43368", "type": "synonym" }, { "name": "Ca-alpha1A", "type": "synonym" }, { "name": "Ca[[V]]2.1", "type": "synonym" }, { "name": "Cac1", "type": "synonym" }, { "name": "Cactus", "type": "synonym" }, { "name": "Cac", "type": "synonym" }, { "name": "DMCA1A", "type": "synonym" }, { "name": "Dmca1A", "type": "synonym" }, { "name": "Dmcalpha1A", "type": "synonym" }, { "name": "Dmel\\CG43368", "type": "synonym" }, { "name": "Dmel_CG43368", "type": "synonym" }, { "name": "EE171", "type": "synonym" }, { "name": "H18", "type": "synonym" }, { "name": "H47", "type": "synonym" }, { "name": "L13", "type": "synonym" }, { "name": "P18", "type": "synonym" }, { "name": "alpha1A", "type": "synonym" }, { "name": "cac1", "type": "synonym" }, { "name": "cactus", "type": "synonym" }, { "name": "cact", "type": "synonym" }, { "name": "cac", "type": "synonym" }, { "name": "can", "type": "synonym" }, { "name": "dCac1", "type": "synonym" }, { "name": "dmca1A", "type": "synonym" }, { "name": "l(1)11Aa", "type": "synonym" }, { "name": "l(1)13", "type": "synonym" }, { "name": "l(1)L13", "type": "synonym" }, { "name": "ldg", "type": "synonym" }, { "name": "nbA", "type": "synonym" }, { "name": "nonB", "type": "synonym" }, { "name": "opm18", "type": "synonym" }, { "name": "opm47", "type": "synonym" } ], "record_id": "P91645-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "Q9U969-1", "uniprot_ac": "Q9U969", "uniprot_id": "SWS_DROME", "refseq_ac": "NP_511075", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Neuropathy target esterase sws", "type": "recommended" }, { "name": "3.1.1.5", "type": "synonym" }, { "name": "CG2212-PA", "type": "synonym" }, { "name": "DSWS", "type": "synonym" }, { "name": "Swiss cheese", "type": "synonym" }, { "name": "olfactory E", "type": "synonym" }, { "name": "olfactory-E", "type": "synonym" }, { "name": "swiss cheese, isoform A", "type": "synonym" }, { "name": "swiss cheese", "type": "synonym" }, { "name": "swiss-cheese", "type": "synonym" }, { "name": "swisscheese", "type": "synonym" }, { "name": "sws-PA", "type": "synonym" } ], "gene_names": [ { "name": "sws", "type": "recommended" }, { "name": "CG2212", "type": "synonym" }, { "name": "Dmel\\CG2212", "type": "synonym" }, { "name": "Dmel_CG2212", "type": "synonym" }, { "name": "PNPLA6", "type": "synonym" }, { "name": "SWS", "type": "synonym" }, { "name": "Sws", "type": "synonym" }, { "name": "olfE", "type": "synonym" }, { "name": "sws", "type": "synonym" } ], "record_id": "Q9U969-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "Q99807-1", "uniprot_ac": "Q99807", "uniprot_id": "COQ7_HUMAN", "refseq_ac": "NP_001177912", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "NADPH-dependent 3-demethoxyubiquinone 3-hydroxylase, mitochondrial", "type": "recommended" }, { "name": "1.14.13.253", "type": "synonym" }, { "name": "3-demethoxyubiquinone 3-hydroxylase (NADH)", "type": "synonym" }, { "name": "5-demethoxyubiquinone hydroxylase, mitochondrial", "type": "synonym" }, { "name": "COQ7 coenzyme Q, 7 homolog ubiquinone", "type": "synonym" }, { "name": "DMQ hydroxylase", "type": "synonym" }, { "name": "NADPH-dependent 3-demethoxyubiquinone 3-hydroxylase, mitochondrial isoform 2", "type": "synonym" }, { "name": "NADPH-dependent 3-demethoxyubiquinone 3-hydroxylase, mitochondrial", "type": "synonym" }, { "name": "Timing protein clk-1 homolog", "type": "synonym" }, { "name": "Ubiquinone biosynthesis monooxygenase COQ7", "type": "synonym" }, { "name": "coenzyme Q biosynthesis protein 7 homolog", "type": "synonym" }, { "name": "coenzyme Q7 homolog, ubiquinone", "type": "synonym" }, { "name": "placental protein KG-20", "type": "synonym" }, { "name": "timing protein clk-1 homolog", "type": "synonym" }, { "name": "ubiquinone biosynthesis monooxygenase COQ7", "type": "synonym" }, { "name": "ubiquinone biosynthesis protein COQ7 homolog", "type": "synonym" } ], "gene_names": [ { "name": "COQ7", "type": "recommended" }, { "name": "CAT5", "type": "synonym" }, { "name": "COQ10D8", "type": "synonym" }, { "name": "COQ7", "type": "synonym" }, { "name": "HMNR9", "type": "synonym" } ], "record_id": "Q99807-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "Q8IY17-4", "uniprot_ac": "Q8IY17", "uniprot_id": "PLPL6_HUMAN", "refseq_ac": "NP_001159583", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Patatin-like phospholipase domain-containing protein 6", "type": "recommended" }, { "name": "3.1.1.5", "type": "synonym" }, { "name": "Neuropathy target esterase", "type": "synonym" }, { "name": "neuropathy target esterase", "type": "synonym" }, { "name": "patatin like phospholipase domain containing 6", "type": "synonym" }, { "name": "patatin-like phospholipase domain-containing protein 6 isoform a", "type": "synonym" }, { "name": "patatin-like phospholipase domain-containing protein 6", "type": "synonym" } ], "gene_names": [ { "name": "PNPLA6", "type": "recommended" }, { "name": "BNHS", "type": "synonym" }, { "name": "LNMS", "type": "synonym" }, { "name": "NTEMND", "type": "synonym" }, { "name": "NTE", "type": "synonym" }, { "name": "OMCS", "type": "synonym" }, { "name": "PNPLA6", "type": "synonym" }, { "name": "SPG39", "type": "synonym" }, { "name": "iPLA2delta", "type": "synonym" }, { "name": "sws", "type": "synonym" } ], "record_id": "Q8IY17-4", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "Q6ZV29-1", "uniprot_ac": "Q6ZV29", "uniprot_id": "PLPL7_HUMAN", "refseq_ac": "NP_001092007", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Patatin-like phospholipase domain-containing protein 7", "type": "recommended" }, { "name": "3.1.1.-", "type": "synonym" }, { "name": "3.1.1.5", "type": "synonym" }, { "name": "patatin like phospholipase domain containing 7", "type": "synonym" }, { "name": "patatin-like phospholipase domain-containing protein 7 isoform a", "type": "synonym" }, { "name": "patatin-like phospholipase domain-containing protein 7", "type": "synonym" } ], "gene_names": [ { "name": "PNPLA7", "type": "recommended" }, { "name": "C9orf111", "type": "synonym" }, { "name": "NTE-R1", "type": "synonym" }, { "name": "NTEL1", "type": "synonym" }, { "name": "PNPLA7", "type": "synonym" } ], "record_id": "Q6ZV29-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "Q709C8-1", "uniprot_ac": "Q709C8", "uniprot_id": "VP13C_HUMAN", "refseq_ac": "NP_001018098", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Intermembrane lipid transfer protein VPS13C", "type": "recommended" }, { "name": "Vacuolar protein sorting-associated protein 13C", "type": "synonym" }, { "name": "bridge-like lipid transfer protein family member 5C", "type": "synonym" }, { "name": "intermembrane lipid transfer protein VPS13C isoform 2B", "type": "synonym" }, { "name": "intermembrane lipid transfer protein VPS13C", "type": "synonym" }, { "name": "vacuolar protein sorting-associated protein 13C", "type": "synonym" } ], "gene_names": [ { "name": "VPS13C", "type": "recommended" }, { "name": "BLTP5C", "type": "synonym" }, { "name": "KIAA1421", "type": "synonym" }, { "name": "PARK23", "type": "synonym" }, { "name": "VPS13C", "type": "synonym" } ], "record_id": "Q709C8-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "Q96RL7-1", "uniprot_ac": "Q96RL7", "uniprot_id": "VP13A_HUMAN", "refseq_ac": "NP_001018047", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Intermembrane lipid transfer protein VPS13A", "type": "recommended" }, { "name": "Chorea-acanthocytosis protein", "type": "synonym" }, { "name": "Chorein", "type": "synonym" }, { "name": "Vacuolar protein sorting-associated protein 13A", "type": "synonym" }, { "name": "bridge-like lipid transfer protein family member 5A", "type": "synonym" }, { "name": "chorea-acanthocytosis protein", "type": "synonym" }, { "name": "intermembrane lipid transfer protein VPS13A isoform C", "type": "synonym" }, { "name": "intermembrane lipid transfer protein VPS13A", "type": "synonym" }, { "name": "vacuolar protein sorting 13A", "type": "synonym" }, { "name": "vacuolar protein sorting-associated protein 13A", "type": "synonym" } ], "gene_names": [ { "name": "VPS13A", "type": "recommended" }, { "name": "BLTP5A", "type": "synonym" }, { "name": "CHAC", "type": "synonym" }, { "name": "CHOREIN", "type": "synonym" }, { "name": "KIAA0986", "type": "synonym" }, { "name": "VPS13A", "type": "synonym" } ], "record_id": "Q96RL7-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "P49588-1", "uniprot_ac": "P49588", "uniprot_id": "SYAC_HUMAN", "refseq_ac": "NP_001596", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Alanine--tRNA ligase, cytoplasmic", "type": "recommended" }, { "name": "6.-.-.-", "type": "synonym" }, { "name": "6.1.1.7", "type": "synonym" }, { "name": "AlaRS", "type": "synonym" }, { "name": "Alanyl-tRNA synthetase", "type": "synonym" }, { "name": "Protein lactyltransferase AARS1", "type": "synonym" }, { "name": "Renal carcinoma antigen NY-REN-42", "type": "synonym" }, { "name": "alaRS", "type": "synonym" }, { "name": "alanine tRNA ligase 1, cytoplasmic", "type": "synonym" }, { "name": "alanine--tRNA ligase, cytoplasmic", "type": "synonym" }, { "name": "alanyl-tRNA synthetase, cytoplasmic", "type": "synonym" }, { "name": "protein lactyltransferase AARS1", "type": "synonym" }, { "name": "renal carcinoma antigen NY-REN-42", "type": "synonym" } ], "gene_names": [ { "name": "AARS1", "type": "recommended" }, { "name": "AARS1", "type": "synonym" }, { "name": "AARS", "type": "synonym" }, { "name": "CMT2N", "type": "synonym" }, { "name": "DEE29", "type": "synonym" }, { "name": "EIEE29", "type": "synonym" }, { "name": "HDLS2", "type": "synonym" }, { "name": "TTD8", "type": "synonym" } ], "record_id": "P49588-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "Q5JTZ9-1", "uniprot_ac": "Q5JTZ9", "uniprot_id": "SYAM_HUMAN", "refseq_ac": "NP_065796", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Alanine--tRNA ligase, mitochondrial", "type": "recommended" }, { "name": "6.-.-.-", "type": "synonym" }, { "name": "6.1.1.7", "type": "synonym" }, { "name": "AlaRS", "type": "synonym" }, { "name": "Alanyl-tRNA synthetase", "type": "synonym" }, { "name": "Protein lactyltransferase AARS2", "type": "synonym" }, { "name": "alanine tRNA ligase 2, mitochondrial (putative)", "type": "synonym" }, { "name": "alanine--tRNA ligase, mitochondrial", "type": "synonym" }, { "name": "alanyl-tRNA synthetase 2, mitochondrial (putative)", "type": "synonym" }, { "name": "alanyl-tRNA synthetase like", "type": "synonym" }, { "name": "probable alanyl-tRNA synthetase, mitochondrial", "type": "synonym" }, { "name": "protein lactyltransferase AARS2", "type": "synonym" } ], "gene_names": [ { "name": "AARS2", "type": "recommended" }, { "name": "AARS2", "type": 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"name": "GEMIN5", "type": "synonym" }, { "name": "NEDCAM", "type": "synonym" } ], "record_id": "Q8TEQ6-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "O00555-8", "uniprot_ac": "O00555", "uniprot_id": "CAC1A_HUMAN", "refseq_ac": "NP_000059", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Voltage-dependent P/Q-type calcium channel subunit alpha-1A", "type": "recommended" }, { "name": "BI", "type": "synonym" }, { "name": "Brain calcium channel I", "type": "synonym" }, { "name": "Calcium channel, L type, alpha-1 polypeptide isoform 4", "type": "synonym" }, { "name": "Voltage-gated calcium channel subunit alpha Cav2.1", "type": "synonym" }, { "name": "brain calcium channel 1", "type": "synonym" }, { "name": "brain calcium channel I", 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"synonym" }, { "name": "EIEE42", "type": "synonym" }, { "name": "FHM", "type": "synonym" }, { "name": "HPCA", "type": "synonym" }, { "name": "MHP1", "type": "synonym" }, { "name": "MHP", "type": "synonym" }, { "name": "SCA6", "type": "synonym" } ], "record_id": "O00555-8", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "P54098-1", "uniprot_ac": "P54098", "uniprot_id": "DPOG1_HUMAN", "refseq_ac": "NP_001119603", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "DNA polymerase subunit gamma-1", "type": "recommended" }, { "name": "2.7.7.7", "type": "synonym" }, { "name": "3'-5' exodeoxyribonuclease", "type": "synonym" }, { "name": "3.1.11.-", "type": "synonym" }, { "name": "4.2.99.-", "type": "synonym" }, { "name": "5'-deoxyribose-phosphate lyase", "type": "synonym" }, { "name": "DNA polymerase subunit gamma-1", "type": "synonym" }, { "name": "Mitochondrial DNA polymerase catalytic subunit", "type": "synonym" }, { "name": "PolG-alpha", "type": "synonym" }, { "name": "mitochondrial DNA polymerase catalytic subunit", "type": "synonym" }, { "name": "mitochondrial polymerase gamma catalytic subunit", "type": "synonym" }, { "name": "polymerase (DNA directed), gamma", "type": "synonym" }, { "name": "polymerase (DNA) gamma, catalytic subunit", "type": "synonym" } ], "gene_names": [ { "name": "POLG", "type": "recommended" }, { "name": "MDP1", "type": "synonym" }, { "name": "MIRAS", "type": "synonym" }, { "name": "MTDPS4A", "type": "synonym" }, { "name": "MTDPS4B", "type": "synonym" }, { "name": "PEO", "type": "synonym" }, { "name": "POLG1", "type": "synonym" }, { "name": "POLGA", "type": "synonym" }, { "name": "POLG", "type": "synonym" }, { "name": "PolG-alpha", "type": "synonym" }, { "name": "SANDO", "type": "synonym" }, { "name": "SCAE", "type": "synonym" } ], "record_id": "P54098-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "Q68CZ1-1", "uniprot_ac": "Q68CZ1", "uniprot_id": "FTM_HUMAN", "refseq_ac": "NP_001121369", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Protein fantom", "type": "recommended" }, { "name": "Nephrocystin-8", "type": "synonym" }, { "name": "RPGR-interacting protein 1-like protein", "type": "synonym" }, { "name": "RPGRIP1-like protein", "type": "synonym" }, { "name": "fantom homolog", "type": "synonym" }, { "name": "nephrocystin-8", "type": "synonym" }, { "name": "protein fantom isoform b", "type": "synonym" }, { "name": "protein fantom", "type": "synonym" }, { "name": "protein phosphatase 1, regulatory subunit 134", "type": "synonym" } ], "gene_names": [ { "name": "RPGRIP1L", "type": "recommended" }, { "name": "COACH3", "type": "synonym" }, { "name": "CORS3", "type": "synonym" }, { "name": "FTM", "type": "synonym" }, { "name": "JBTS7", "type": "synonym" }, { "name": "KIAA1005", "type": "synonym" }, { "name": "MKS5", "type": "synonym" }, { "name": "NPHP8", "type": "synonym" }, { "name": "PPP1R134", "type": "synonym" }, { "name": "RPGRIP1L", "type": "synonym" } ], "record_id": "Q68CZ1-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "Q8NF91-1", "uniprot_ac": "Q8NF91", "uniprot_id": "SYNE1_HUMAN", "refseq_ac": "NP_892006", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Nesprin-1", "type": "recommended" }, { "name": "CPG2 full length", "type": "synonym" }, { "name": "Enaptin", "type": "synonym" }, { "name": "KASH domain-containing protein 1", "type": "synonym" }, { "name": "KASH1", "type": "synonym" }, { "name": "Myne-1", "type": "synonym" }, { "name": "Myocyte nuclear envelope protein 1", "type": "synonym" }, { "name": "Nuclear envelope spectrin repeat protein 1", "type": "synonym" }, { "name": "Synaptic nuclear envelope protein 1", "type": "synonym" }, { "name": "Syne-1", "type": "synonym" }, { "name": "enaptin", "type": "synonym" }, { "name": "myocyte nuclear envelope protein 1", "type": "synonym" }, { "name": "nesprin 1", "type": "synonym" }, { "name": "nesprin-1 isoform 1 (nesprin-1 giant or enaptin)", "type": "synonym" }, { "name": "spectrin repeat containing, nuclear envelope 1", "type": "synonym" }, { "name": "synaptic nuclear envelope protein 1", "type": "synonym" }, { "name": "synaptic nuclei expressed gene 1", "type": "synonym" } ], "gene_names": [ { "name": "SYNE1", "type": "recommended" }, { "name": "8B", "type": "synonym" }, { "name": "AMC3", "type": "synonym" }, { "name": "AMCM", "type": "synonym" }, { "name": "ARCA1", "type": "synonym" }, { "name": "C6orf98", "type": "synonym" }, { "name": "CPG2", "type": "synonym" }, { "name": "EDMD4", "type": "synonym" }, { "name": "KASH1", "type": "synonym" }, { "name": "KIAA0796", "type": "synonym" }, { "name": "KIAA1262", "type": "synonym" }, { "name": "KIAA1756", "type": "synonym" }, { "name": "MYNE1", "type": "synonym" }, { "name": "Nesp1", "type": "synonym" }, { "name": "SCAR8", "type": "synonym" }, { "name": "SYNE1", "type": "synonym" }, { "name": "dJ45H2.2", "type": "synonym" } ], "record_id": "Q8NF91-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "Q9H9P8-1", "uniprot_ac": "Q9H9P8", "uniprot_id": "L2HDH_HUMAN", "refseq_ac": "NP_079160", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "L-2-hydroxyglutarate dehydrogenase, mitochondrial", "type": "recommended" }, { "name": "1.1.99.2", "type": "synonym" }, { "name": "2-hydroxyglutarate dehydrogenase", "type": "synonym" }, { "name": "Duranin", "type": "synonym" }, { "name": "L-2-hydroxyglutarate dehydrogenase, mitochondrial isoform 1 precursor", "type": "synonym" }, { "name": "L-2-hydroxyglutarate dehydrogenase, mitochondrial", "type": "synonym" }, { "name": "L-alpha-hydroxyglutarate dehydrogenase", "type": "synonym" }, { "name": "alpha-hydroxyglutarate oxidoreductase", "type": "synonym" }, { "name": "alpha-ketoglutarate reductase", "type": "synonym" }, { "name": "duranin", "type": "synonym" } ], "gene_names": [ { "name": "L2HGDH", "type": "recommended" }, { "name": "C14orf160", "type": "synonym" }, { "name": "L2HGA", "type": "synonym" }, { "name": "L2HGDH", "type": "synonym" } ], "record_id": "Q9H9P8-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] }, { "uniprot_canonical_ac": "Q86WG3-1", "uniprot_ac": "Q86WG3", "uniprot_id": "ATCAY_HUMAN", "refseq_ac": "NP_149053", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Caytaxin", "type": "recommended" }, { "name": "ATCAY, caytaxin", "type": "synonym" }, { "name": "Ataxia cayman type protein", "type": "synonym" }, { "name": "BNIP-2-homolgy", "type": "synonym" }, { "name": "BNIP-2-homology", "type": "synonym" }, { "name": "BNIP-H", "type": "synonym" }, { "name": "Cayman ataxia", "type": "synonym" }, { "name": "ataxia cayman type protein", "type": "synonym" }, { "name": "ataxia cerebellar Cayman type", "type": "synonym" }, { "name": "caytaxin", "type": "synonym" } ], "gene_names": [ { "name": "ATCAY", "type": "recommended" }, { "name": "ATCAY", "type": "synonym" }, { "name": "BNIP-H", "type": "synonym" }, { "name": "CLAC", "type": "synonym" }, { "name": "KIAA1872", "type": "synonym" } ], "record_id": "Q86WG3-1", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0050753" }