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"0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "A0A0R4IBL7-1", "uniprot_ac": "A0A0R4IBL7", "uniprot_id": "HTF4_DANRE", "refseq_ac": "NP_999981", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Transcription factor 12", "type": "recommended" }, { "name": "TCF-12", "type": "synonym" }, { "name": "TF12", "type": "synonym" }, { "name": "transcription factor 12", "type": "synonym" } ], "gene_names": [ { "name": "tcf12", "type": "recommended" }, { "name": "SO:0001217", "type": "synonym" }, { "name": "TCF-12", "type": "synonym" }, { "name": "tcf12", "type": "synonym" }, { "name": "wu:fb74g05", "type": "synonym" }, { "name": "wu:fc43e06", "type": "synonym" }, { "name": "zgc:110341", "type": "synonym" }, { "name": "zgc:85956", "type": "synonym" } ], "record_id": "A0A0R4IBL7-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "B0S6R1-1", "uniprot_ac": "B0S6R1", "uniprot_id": "NCKP1_DANRE", "refseq_ac": "XP_005167980", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Nck-associated protein 1", "type": "recommended" }, { "name": "NAP 1", "type": "synonym" }, { "name": "nck-associated protein 1 isoform X3", "type": "synonym" } ], "gene_names": [ { "name": "nckap1", "type": "recommended" }, { "name": "nckap1", "type": "synonym" }, { "name": "si:dkey-234n3.1", "type": "synonym" }, { "name": "wu:fd05c01", "type": "synonym" } ], "record_id": "B0S6R1-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": 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"Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Disabled homolog 2-interacting protein isoform X1", "type": "synonym" }, { "name": "disabled homolog 2-interacting protein isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "dab2ipa", "type": "recommended" }, { "name": "dab2ipa", "type": "synonym" } ], "record_id": "A0A8M6YZX5-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "A0A8M6YYR6-1", "uniprot_ac": "A0A8M6YYR6", "uniprot_id": "A0A8M6YYR6_DANRE", "refseq_ac": "XP_017211256", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Par-3 family cell polarity regulator beta a isoform X1", "type": "synonym" }, { "name": "par-3 family cell polarity regulator beta a isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "pard3ba", "type": "recommended" }, { "name": "im:7153558", "type": "synonym" }, { "name": "im:7153839", "type": "synonym" }, { "name": "pard3ba", "type": "synonym" }, { "name": "si:ch1073-345a8.1", "type": "synonym" } ], "record_id": "A0A8M6YYR6-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q5PYH5-1", "uniprot_ac": "Q5PYH5", "uniprot_id": "DLG1L_DANRE", "refseq_ac": "NP_001012388", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Discs large homolog 1-like protein", "type": "recommended" }, { "name": "SAP-97B", "type": "synonym" }, { "name": "SAP97B", "type": "synonym" }, { "name": "Synapse-associated protein 97B", "type": "synonym" }, { "name": "discs large homolog 1-like protein isoform 5", "type": "synonym" }, { "name": "discs large homolog 1-like protein", "type": "synonym" }, { "name": "discs, large homolog 1, like", "type": "synonym" }, { "name": "synapse-associated protein 97B", "type": "synonym" } ], "gene_names": [ { "name": "dlg1b", "type": "recommended" }, { "name": "dlg1l", "type": "recommended" }, { "name": "dlg1b", "type": "synonym" }, { "name": "dlg1l", "type": "synonym" } ], "record_id": "Q5PYH5-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q6R005-1", "uniprot_ac": "Q6R005", "uniprot_id": "DLG4_DANRE", "refseq_ac": "NP_999893", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Disks large homolog 4", "type": "recommended" }, { "name": "PSD-95", "type": "synonym" }, { "name": "PSD95/SAP90", "type": "synonym" }, { "name": "Postsynaptic density protein 95", "type": "synonym" }, { "name": "discs, large homolog 4", "type": "synonym" }, { "name": "disks large homolog 4", "type": "synonym" }, { "name": "postsynaptic density protein 95", "type": "synonym" } ], "gene_names": [ { "name": "dlg4", "type": "recommended" }, { "name": "dlg4b", "type": "synonym" }, { "name": "dlg4", "type": "synonym" } ], "record_id": "Q6R005-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "A0A8M3AVF1-1", "uniprot_ac": "A0A8M3AVF1", "uniprot_id": "A0A8M3AVF1_DANRE", "refseq_ac": "XP_009302476", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "E1A-binding protein p400 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "ep400", "type": "recommended" }, { "name": "ep400", "type": "synonym" } ], "record_id": "A0A8M3AVF1-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q5PYH7-1", "uniprot_ac": "Q5PYH7", "uniprot_id": "DLG2_DANRE", "refseq_ac": "NP_001012378", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Disks large homolog 2", "type": "recommended" }, { "name": "PSD-93", "type": "synonym" }, { "name": "Postsynaptic density protein 93", "type": "synonym" }, { "name": "disks large homolog 2 isoform 1", "type": "synonym" }, { "name": "disks large homolog 2", "type": "synonym" }, { "name": "postsynaptic density protein 93", "type": "synonym" } ], "gene_names": [ { "name": "dlg2", "type": "recommended" }, { "name": "PSD-93", "type": "synonym" }, { 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "A0A8M9Q2B5-1", "uniprot_ac": "A0A8M9Q2B5", "uniprot_id": "A0A8M9Q2B5_DANRE", "refseq_ac": "XP_017212499", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "GRB10-interacting GYF protein 1 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "gigyf1a", "type": "recommended" }, { "name": "gigyf1a", "type": "synonym" } ], "record_id": "A0A8M9Q2B5-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "A0A8M3B4P7-1", "uniprot_ac": "A0A8M3B4P7", "uniprot_id": "A0A8M3B4P7_DANRE", "refseq_ac": "XP_009302045", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", 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"type": "recommended" }, { "name": "gabrb3", "type": "synonym" } ], "record_id": "A0A8M2BDH7-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "A0A8M2BKD0-1", "uniprot_ac": "A0A8M2BKD0", "uniprot_id": "A0A8M2BKD0_DANRE", "refseq_ac": "XP_005173160", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Gamma-aminobutyric acid receptor subunit beta-2a isoform X1", "type": "synonym" }, { "name": "gamma-aminobutyric acid receptor subunit beta-2a isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "gabrb2a", "type": "recommended" }, { "name": "fj59e04", "type": "synonym" }, { "name": "gabaabeta2", "type": "synonym" }, { "name": "gabrb2a", "type": "synonym" }, { "name": "gabrb2", "type": "synonym" }, { "name": "si:ch211-215g18.1", 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"type": "synonym" }, { "name": "bHLHb21", "type": "synonym" } ], "record_id": "P15806-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "F6SEU4-1", "uniprot_ac": "F6SEU4", "uniprot_id": "SYGP1_MOUSE", "refseq_ac": "NP_001268420", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Ras/Rap GTPase-activating protein SynGAP", "type": "recommended" }, { "name": "Neuronal RasGAP", "type": "synonym" }, { "name": "Synaptic Ras GTPase-activating protein 1", "type": "synonym" }, { "name": "Synaptic Ras-GAP 1", "type": "synonym" }, { "name": "neuronal RasGAP", "type": "synonym" }, { "name": "ras GTPase-activating protein SynGAP", "type": "synonym" }, { "name": "ras/Rap GTPase-activating protein SynGAP isoform 1", "type": "synonym" }, { "name": 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{ "name": "HEBAlt", "type": "synonym" }, { "name": "HEB", "type": "synonym" }, { "name": "HTF-4", "type": "synonym" }, { "name": "HTF4", "type": "synonym" }, { "name": "ME1", "type": "synonym" }, { "name": "Meb", "type": "synonym" }, { "name": "REB", "type": "synonym" }, { "name": "Tcf12", "type": "synonym" }, { "name": "bHLHb20", "type": "synonym" } ], "record_id": "Q61286-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q3UHC7-1", "uniprot_ac": "Q3UHC7", "uniprot_id": "DAB2P_MOUSE", "refseq_ac": "NP_001001602", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Disabled homolog 2-interacting protein", "type": "recommended" }, { "name": "ASK-interacting protein 1", "type": "synonym" }, { "name": "ASK1-interacting protein 1", "type": 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"common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Histone-lysine N-methyltransferase ASH1L", "type": "recommended" }, { "name": "2.1.1.359", "type": "synonym" }, { "name": "2.1.1.367", "type": "synonym" }, { "name": "ASH1-like protein", "type": "synonym" }, { "name": "Absent small and homeotic disks protein 1 homolog", "type": "synonym" }, { "name": "absent small and homeotic disks protein 1 homolog", "type": "synonym" }, { "name": "absent, small, or homeotic discs 1", "type": "synonym" }, { "name": "ash1 (absent, small, or homeotic)-like", "type": "synonym" }, { "name": "chromatin remodeling factor", "type": "synonym" }, { "name": "histone-lysine N-methyltransferase ASH1L", "type": "synonym" }, { "name": "probable histone-lysine N-methyltransferase ASH1L", "type": "synonym" } ], "gene_names": [ { "name": "Ash1l", "type": "recommended" }, { "name": "8030453L17Rik", "type": "synonym" }, { "name": "Ash1l", 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], "record_id": "Q60722-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "P63137-1", "uniprot_ac": "P63137", "uniprot_id": "GBRB2_MOUSE", "refseq_ac": "NP_001334243", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Gamma-aminobutyric acid receptor subunit beta-2", "type": "recommended" }, { "name": "GABA(A) receptor subunit beta-2", "type": "synonym" }, { "name": "GABAAR subunit beta-2", "type": "synonym" }, { "name": "gamma-aminobutyric acid (GABA) A receptor, subunit beta 2", "type": "synonym" }, { "name": "gamma-aminobutyric acid A receptor, subunit beta 2", "type": "synonym" }, { "name": "gamma-aminobutyric acid receptor beta-2 subunit", "type": "synonym" }, { "name": "gamma-aminobutyric acid receptor subunit beta-2 isoform 1 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"plexin-B2 isoform 1 precursor", "type": "synonym" } ], "gene_names": [ { "name": "Plxnb2", "type": "recommended" }, { "name": "Debt", "type": "synonym" }, { "name": "Plxnb2", "type": "synonym" }, { "name": "plexin-B2", "type": "synonym" } ], "record_id": "B2RXS4-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q811D0-1", "uniprot_ac": "Q811D0", "uniprot_id": "DLG1_MOUSE", "refseq_ac": "NP_001239362", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Disks large homolog 1", "type": "recommended" }, { "name": "E-dlg/SAP97", "type": "synonym" }, { "name": "Embryo-dlg/synapse-associated protein 97", "type": "synonym" }, { "name": "SAP-97", "type": "synonym" }, { "name": "SAP97", "type": "synonym" }, { "name": "Synapse-associated protein 97", "type": "synonym" }, { "name": "discs, large homolog 1", "type": "synonym" }, { "name": "disks large homolog 1 isoform 2", "type": "synonym" }, { "name": "disks large homolog 1", "type": "synonym" }, { "name": "embryo-dlg/synapse-associated protein 97", "type": "synonym" } ], "gene_names": [ { "name": "Dlg1", "type": "recommended" }, { "name": "B130052P05Rik", "type": "synonym" }, { "name": "Dlg1", "type": "synonym" }, { "name": "Dlgh1", "type": "synonym" }, { "name": "E-dlg/SAP97", "type": "synonym" }, { "name": "SAP-97", "type": "synonym" }, { "name": "SAP97", "type": "synonym" }, { "name": "mKIAA4187", "type": "synonym" } ], "record_id": "Q811D0-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "P70175-1", "uniprot_ac": "P70175", "uniprot_id": "DLG3_MOUSE", "refseq_ac": "NP_001171249", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Disks large homolog 3", "type": "recommended" }, { "name": "SAP-102", "type": "synonym" }, { "name": "SAP102", "type": "synonym" }, { "name": "Synapse-associated protein 102", "type": "synonym" }, { "name": "discs, large homolog 3", "type": "synonym" }, { "name": "disks large homolog 3 isoform 2", "type": "synonym" }, { "name": "disks large homolog 3", "type": "synonym" }, { "name": "synapse-associated protein 102", "type": "synonym" } ], "gene_names": [ { "name": "Dlg3", "type": "recommended" }, { "name": "Dlg3", "type": "synonym" }, { "name": "Dlgh3", "type": "synonym" }, { "name": "SAP102", "type": "synonym" }, { "name": "mKIAA1232", "type": "synonym" } ], "record_id": "P70175-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q6Y7W8-1", "uniprot_ac": "Q6Y7W8", "uniprot_id": 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"reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Partitioning defective 3 homolog", "type": "recommended" }, { "name": "ASIP", "type": "synonym" }, { "name": "Atypical PKC isotype-specific-interacting protein", "type": "synonym" }, { "name": "Ephrin-interacting protein", "type": "synonym" }, { "name": "PAR-3", "type": "synonym" }, { "name": "PARD-3", "type": "synonym" }, { "name": "PHIP", "type": "synonym" }, { "name": "atypical PKC isotype-specific-interacting protein", "type": "synonym" }, { "name": "ephrin-interacting protein", "type": "synonym" }, { "name": "par-3 (partitioning defective 3) homolog", "type": "synonym" }, { "name": "partitioning defective 3 homolog isoform 2", "type": "synonym" }, { "name": "partitioning defective 3 homolog", "type": "synonym" } ], "gene_names": [ { "name": "Pard3", "type": "recommended" }, { "name": "Asip", "type": "synonym" }, { "name": "D8Ertd580e", "type": "synonym" }, { "name": "Par-3", "type": "synonym" }, { 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"https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q62108-1", "uniprot_ac": "Q62108", "uniprot_id": "DLG4_MOUSE", "refseq_ac": "NP_001103222", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Disks large homolog 4", "type": "recommended" }, { "name": "PSD-95 alpha 2b", "type": "synonym" }, { "name": "PSD-95 beta", "type": "synonym" }, { "name": "PSD-95", "type": "synonym" }, { "name": "Postsynaptic density protein 95", "type": "synonym" }, { "name": "SAP-90", "type": "synonym" }, { "name": "SAP90", "type": "synonym" }, { "name": "Synapse-associated protein 90", "type": "synonym" }, { "name": "discs large homolog 4", "type": "synonym" }, { "name": "discs, large homolog 4", "type": "synonym" }, { "name": "disks large homolog 4 isoform 2", "type": "synonym" }, { "name": "disks large homolog 4", 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"name": "plexin-B1 precursor", "type": "synonym" } ], "gene_names": [ { "name": "Plxnb1", "type": "recommended" }, { "name": "2900002G15Rik", "type": "synonym" }, { "name": "Kiaa0407", "type": "synonym" }, { "name": "Plxnb1", "type": "synonym" }, { "name": "mKIAA0407", "type": "synonym" } ], "record_id": "Q8CJH3-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q62141-4", "uniprot_ac": "Q62141", "uniprot_id": "SIN3B_MOUSE", "refseq_ac": "NP_001106719", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Paired amphipathic helix protein Sin3b", "type": "recommended" }, { "name": "Histone deacetylase complex subunit Sin3b", "type": "synonym" }, { "name": "SIN3 homolog B, transcription regulator", "type": "synonym" }, { "name": 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"glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Gamma-aminobutyric acid receptor subunit beta-1", "type": "recommended" }, { "name": "GABA(A) receptor subunit beta-1", "type": "synonym" }, { "name": "GABAAR subunit beta-1", "type": "synonym" }, { "name": "gamma-aminobutyric acid (GABA) A receptor, subunit beta 1", "type": "synonym" }, { "name": "gamma-aminobutyric acid receptor subunit beta-1 isoform 1 precursor", "type": "synonym" }, { "name": "gamma-aminobutyric acid receptor subunit beta-1", "type": "synonym" } ], "gene_names": [ { "name": "Gabrb1", "type": "recommended" }, { "name": "B230208N19Rik", "type": "synonym" }, { "name": "Gabrb-1", "type": "synonym" }, { "name": "Gabrb1", "type": "synonym" } ], "record_id": "P50571-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q9DBB4-1", "uniprot_ac": "Q9DBB4", "uniprot_id": 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acid receptor subunit theta", "type": "synonym" } ], "gene_names": [ { "name": "Gabrq", "type": "recommended" }, { "name": "Gabrq", "type": "synonym" } ], "record_id": "Q9JLF1-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q01098-1", "uniprot_ac": "Q01098", "uniprot_id": "NMDE3_MOUSE", "refseq_ac": "NP_034480", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Glutamate receptor ionotropic, NMDA 2C", "type": "recommended" }, { "name": "GluN2C", "type": "synonym" }, { "name": "GluRepsilon3", "type": "synonym" }, { "name": "Glutamate [NMDA] receptor subunit epsilon-3", "type": "synonym" }, { "name": "N-methyl D-aspartate receptor subtype 2C", "type": "synonym" }, { "name": "NMDAR2C", "type": "synonym" }, { "name": "NR2C", "type": 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"type": "recommended" }, { "name": "Histone deacetylase complex subunit Sin3a", "type": "synonym" }, { "name": "Transcriptional corepressor Sin3a", "type": "synonym" }, { "name": "histone deacetylase complex subunit Sin3a", "type": "synonym" }, { "name": "paired amphipathic helix protein Sin3a isoform 2", "type": "synonym" }, { "name": "paired amphipathic helix protein Sin3a", "type": "synonym" }, { "name": "transcriptional corepressor Sin3a", "type": "synonym" }, { "name": "transcriptional regulator, SIN3 yeast homolog A", "type": "synonym" }, { "name": "transcriptional regulator, SIN3A", "type": "synonym" } ], "gene_names": [ { "name": "Sin3a", "type": "recommended" }, { "name": "Kiaa4126", "type": "synonym" }, { "name": "Sin3a", "type": "synonym" }, { "name": "Sin3", "type": "synonym" }, { "name": "mKIAA4126", "type": "synonym" }, { "name": "mSin3A", "type": "synonym" } ], "record_id": "Q60520-2", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q91XM9-1", "uniprot_ac": "Q91XM9", "uniprot_id": "DLG2_MOUSE", "refseq_ac": "NP_001229976", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Disks large homolog 2", "type": "recommended" }, { "name": "Channel-associated protein of synapse-110", "type": "synonym" }, { "name": "Chapsyn-110", "type": "synonym" }, { "name": "Postsynaptic density protein PSD-93", "type": "synonym" }, { "name": "channel-associated protein of synapse-110", "type": "synonym" }, { "name": "chapsyn-110", "type": "synonym" }, { "name": "discs large MAGUK scaffold protein 2 eta", "type": "synonym" }, { "name": "discs large MAGUK scaffold protein 2 gamma", "type": "synonym" }, { "name": "discs, large homolog 2", "type": "synonym" }, { "name": "disks large homolog 2 isoform 3", "type": "synonym" }, { "name": "disks large homolog 2", "type": "synonym" }, { "name": "postsynaptic density protein PSD-93", "type": "synonym" } ], "gene_names": [ { "name": "Dlg2", "type": "recommended" }, { "name": "A330103J02Rik", "type": "synonym" }, { "name": "B230218P12Rik", "type": "synonym" }, { "name": "B330007M19Rik", "type": "synonym" }, { "name": "Dlg2", "type": "synonym" }, { "name": "Dlgh2", "type": "synonym" }, { "name": "Gm1197", "type": "synonym" }, { "name": "Gm21505", "type": "synonym" }, { "name": "PSD93", "type": "synonym" } ], "record_id": "Q91XM9-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q8CHI8-1", "uniprot_ac": "Q8CHI8", "uniprot_id": "EP400_MOUSE", "refseq_ac": "NP_083613", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "E1A-binding protein p400", "type": "recommended" }, { "name": "3.6.4.-", "type": "synonym" }, { "name": "Domino homolog", "type": "synonym" }, { "name": "E1A-binding protein p400 isoform 1", "type": "synonym" }, { "name": "domino homolog", "type": "synonym" }, { "name": "mDomino", "type": "synonym" }, { "name": "p400 kDa SWI2/SNF2-related protein", "type": "synonym" } ], "gene_names": [ { "name": "Ep400", "type": "recommended" }, { "name": "1700020J09Rik", "type": "synonym" }, { "name": "Ep400", "type": "synonym" }, { "name": "Kiaa1498", "type": "synonym" }, { "name": "mDomino", "type": "synonym" }, { "name": "mKIAA1498", "type": "synonym" }, { "name": "p400", "type": "synonym" } ], "record_id": "Q8CHI8-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q3UH93-1", "uniprot_ac": "Q3UH93", "uniprot_id": "PLXD1_MOUSE", "refseq_ac": "NP_080652", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Plexin-D1", "type": "recommended" }, { "name": "plexin-D1 precursor", "type": "synonym" } ], "gene_names": [ { "name": "Plxnd1", "type": "recommended" }, { "name": "6230425C21Rik", "type": "synonym" }, { "name": "Plxnd1", "type": "synonym" }, { "name": "b2b1863Clo", "type": "synonym" }, { "name": "b2b553Clo", "type": "synonym" } ], "record_id": "Q3UH93-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "P35436-1", "uniprot_ac": "P35436", "uniprot_id": "NMDE1_MOUSE", "refseq_ac": "NP_032196", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Glutamate receptor ionotropic, NMDA 2A", "type": "recommended" }, { "name": "GluN2A", "type": "synonym" }, { "name": "Glutamate [NMDA] receptor subunit epsilon-1", "type": "synonym" }, { "name": "N-methyl D-aspartate receptor subtype 2A", "type": "synonym" }, { "name": "NMDAR2A", "type": "synonym" }, { "name": "NR2A", "type": "synonym" }, { "name": "glutamate [NMDA] receptor subunit epsilon-1", "type": "synonym" }, { "name": "glutamate receptor ionotropic, NMDA 2A precursor", "type": "synonym" }, { "name": "glutamate receptor ionotropic, NMDA 2A", "type": "synonym" } ], "gene_names": [ { "name": "Grin2a", "type": "recommended" }, { "name": "GluN2A", "type": "synonym" }, { "name": "GluRepsilon1", "type": "synonym" }, { "name": "Grin2a", "type": "synonym" }, { "name": "NMDAR2A", "type": "synonym" }, { "name": "NR2A", "type": "synonym" } ], "record_id": "P35436-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "A0A087WQ44-1", "uniprot_ac": "A0A087WQ44", "uniprot_id": "A0A087WQ44_MOUSE", "refseq_ac": "NP_001291195", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Snf2-related CBP activator protein", "type": "synonym" }, { "name": "Snf2-related CREBBP activator protein", "type": "synonym" }, { "name": "helicase SRCAP", "type": "synonym" } ], "gene_names": [ { "name": "Srcap", "type": "recommended" }, { "name": "B930091H02Rik", "type": "synonym" }, { "name": "D030022P06Rik", "type": "synonym" }, { "name": "F630004O05Rik", "type": "synonym" }, { "name": "Srcap", "type": "synonym" } ], "record_id": "A0A087WQ44-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q9QY40-1", "uniprot_ac": "Q9QY40", "uniprot_id": "PLXB3_MOUSE", "refseq_ac": "NP_062533", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Plexin-B3", "type": "recommended" }, { "name": "Plexin-6", "type": "synonym" }, { "name": "plexin 6", "type": "synonym" }, { "name": "plexin-B3 precursor", "type": "synonym" } ], "gene_names": [ { "name": "Plxnb3", "type": "recommended" }, { "name": "Kiaa1206", "type": "synonym" }, { "name": "Plxn6", "type": "synonym" }, { "name": "Plxnb3", "type": "synonym" } ], "record_id": "Q9QY40-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q9CSB4-1", "uniprot_ac": "Q9CSB4", "uniprot_id": "PAR3L_MOUSE", "refseq_ac": "NP_001074519", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Partitioning defective 3 homolog B", "type": "recommended" }, { "name": "Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 19 protein homolog", "type": "synonym" }, { "name": "PAR3-L protein", "type": "synonym" }, { "name": "PAR3-beta", "type": "synonym" }, { "name": "Partitioning defective 3-like protein", "type": "synonym" }, { "name": "amyotrophic lateral sclerosis 2 chromosomal region candidate gene 19 protein homolog", "type": "synonym" }, { "name": "par-3 partitioning defective 3 homolog B", "type": "synonym" }, { "name": "partitioning defective 3 homolog B", "type": "synonym" }, { "name": "partitioning defective 3-like protein", "type": "synonym" } ], "gene_names": [ { "name": "Pard3b", "type": "recommended" }, { "name": "1810008K04Rik", "type": "synonym" }, { "name": "2010002N16Rik", "type": "synonym" }, { "name": "2810455B10Rik", "type": "synonym" }, { "name": "Als2cr19", "type": "synonym" }, { "name": "PAR3B", "type": "synonym" }, { "name": "PAR3L", "type": "synonym" }, { "name": "PAR3beta", "type": "synonym" }, { "name": "Par3l", "type": "synonym" }, { "name": "Pard3b", "type": "synonym" } ], "record_id": "Q9CSB4-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q80UM3-1", "uniprot_ac": "Q80UM3", "uniprot_id": "NAA15_MOUSE", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "N-alpha-acetyltransferase 15, NatA auxiliary subunit", "type": "recommended" }, { "name": "N-terminal acetyltransferase 1", "type": "synonym" }, { "name": "NMDA receptor-regulated protein 1", "type": "synonym" }, { "name": "Protein tubedown-1", "type": "synonym" } ], "gene_names": [ { "name": "Naa15", "type": "recommended" }, { "name": "Narg1", "type": "synonym" }, { "name": "Nat1", "type": "synonym" }, { "name": "Tbdn-1", "type": "synonym" }, { "name": "Tubedown", "type": "synonym" } ], "record_id": "Q80UM3-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q9CQJ4-1", "uniprot_ac": "Q9CQJ4", "uniprot_id": "RING2_MOUSE", "refseq_ac": "NP_035407", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "E3 ubiquitin-protein ligase RING2", "type": "recommended" }, { "name": "2.3.2.27", "type": "synonym" }, { "name": "E3 ubiquitin-protein ligase RING2", "type": "synonym" }, { "name": "RING finger protein 1B", "type": "synonym" }, { "name": "RING finger protein 2", "type": "synonym" }, { "name": "RING-type E3 ubiquitin transferase RING2", "type": "synonym" }, { "name": "RING1b", "type": "synonym" } ], "gene_names": [ { "name": "Rnf2", "type": "recommended" }, { "name": "DinG", "type": "synonym" }, { "name": "Ring1B", "type": "synonym" }, { "name": "Ring1b", "type": "synonym" }, { "name": "Rnf2", "type": "synonym" }, { "name": "dinG", "type": "synonym" } ], "record_id": "Q9CQJ4-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "O35730-1", "uniprot_ac": "O35730", "uniprot_id": "RING1_MOUSE", "refseq_ac": "NP_033092", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "E3 ubiquitin-protein ligase RING1", "type": "recommended" }, { "name": "2.3.2.27", "type": "synonym" }, { "name": "E3 ubiquitin-protein ligase RING1", "type": "synonym" }, { "name": "Polycomb complex protein RING1", "type": "synonym" }, { "name": "RING finger protein 1", "type": "synonym" }, { "name": "RING-type E3 ubiquitin transferase RING1", "type": "synonym" }, { "name": "Transcription repressor Ring1A", "type": "synonym" }, { "name": "polycomb complex protein RING1", "type": "synonym" }, { "name": "transcription repressor Ring1A", "type": "synonym" } ], "gene_names": [ { "name": "Ring1", "type": "recommended" }, { "name": "Ring1A", "type": "synonym" }, { "name": "Ring1", "type": "synonym" }, { "name": "Rnf1", "type": "synonym" } ], "record_id": "O35730-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q921I9-1", "uniprot_ac": "Q921I9", "uniprot_id": "EXOS4_MOUSE", "refseq_ac": "NP_780608", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Exosome complex component RRP41", "type": "recommended" }, { "name": "Exosome component 4", "type": "synonym" }, { "name": "Ribosomal RNA-processing protein 41", "type": "synonym" }, { "name": "exosome complex component RRP41", "type": "synonym" }, { "name": "exosome complex exonuclease RRP41", "type": "synonym" }, { "name": "ribosomal RNA-processing protein 41", "type": "synonym" } ], "gene_names": [ { "name": "Exosc4", "type": "recommended" }, { "name": "1110039I09Rik", "type": "synonym" }, { "name": "1500001N04Rik", "type": "synonym" }, { "name": "Exosc4", "type": "synonym" }, { "name": "Rrp41", "type": "synonym" } ], "record_id": "Q921I9-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "P46948-1", "uniprot_ac": "P46948", "uniprot_id": "RRP41_YEAST", "refseq_ac": "NP_011711", "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": "Exosome complex component SKI6", "type": "recommended" }, { "name": "Extracellular mutant protein 20", "type": "synonym" }, { "name": "Ribosomal RNA-processing protein 41", "type": "synonym" }, { "name": "Superkiller protein 6", "type": "synonym" }, { "name": "exosome non-catalytic core subunit SKI6", "type": "synonym" } ], "gene_names": [ { "name": "SKI6", "type": "recommended" }, { "name": "ECM20", "type": "synonym" }, { "name": "G7587", "type": "synonym" }, { "name": "RRP41", "type": "synonym" }, { "name": "SKI6", "type": "synonym" } ], "record_id": "P46948-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q05471-1", "uniprot_ac": "Q05471", "uniprot_id": "SWR1_YEAST", "refseq_ac": "NP_010621", "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": "Chromatin remodeling protein SWR1", "type": "recommended" }, { "name": "3.6.4.-", "type": "synonym" }, { "name": "Swi2/Snf2-related 1", "type": "synonym" }, { "name": "chromatin-remodeling protein SWR1", "type": "synonym" } ], "gene_names": [ { "name": "SWR1", "type": "recommended" }, { "name": "D9651.6", "type": "synonym" }, { "name": "SWR1", "type": "synonym" } ], "record_id": "Q05471-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "P32909-1", "uniprot_ac": "P32909", "uniprot_id": "SMY2_YEAST", "refseq_ac": "NP_009731", "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": "Protein SMY2", "type": "recommended" }, { "name": "Smy2p", "type": "synonym" }, { "name": "Suppressor of MYO2-66 protein", "type": "synonym" } ], "gene_names": [ { "name": "SMY2", "type": "recommended" }, { "name": "SMY2", "type": "synonym" }, { "name": "YBR1233", "type": "synonym" } ], "record_id": "P32909-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q02875-1", "uniprot_ac": "Q02875", "uniprot_id": "SYH1_YEAST", "refseq_ac": "NP_015220", "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": "SMY2 homolog 2", "type": "recommended" }, { "name": "Syh1p", "type": "synonym" } ], "gene_names": [ { "name": "SYH1", "type": "recommended" }, { "name": "MYR1", "type": "synonym" }, { "name": "SYH1", "type": "synonym" } ], "record_id": "Q02875-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "P12945-1", "uniprot_ac": "P12945", "uniprot_id": "NAT1_YEAST", "refseq_ac": "NP_010244", "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": "N-terminal acetyltransferase A complex subunit NAT1", "type": "recommended" }, { "name": "Amino-terminal, alpha-amino, acetyltransferase 1", "type": "synonym" }, { "name": "NatA complex subunit NAT1", "type": "synonym" }, { "name": "peptide alpha-N-acetyltransferase complex A subunit NAT1", "type": "synonym" } ], "gene_names": [ { "name": "NAT1", "type": "recommended" }, { "name": "AAA1", "type": "synonym" }, { "name": "D2720", "type": "synonym" }, { "name": "NAA15", "type": "synonym" }, { "name": "NAT1", "type": "synonym" } ], "record_id": "P12945-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "P22579-1", "uniprot_ac": "P22579", "uniprot_id": "SIN3_YEAST", "refseq_ac": "NP_014639", "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": "Transcriptional regulatory protein SIN3", "type": "recommended" }, { "name": "transcriptional regulator SIN3", "type": "synonym" } ], "gene_names": [ { "name": "SIN3", "type": "recommended" }, { "name": "CPE1", "type": "synonym" }, { "name": "GAM2", "type": "synonym" }, { "name": "RPD1", "type": "synonym" }, { "name": "SDI1", "type": "synonym" }, { "name": "SDS16", "type": "synonym" }, { "name": "SIN3", "type": "synonym" }, { "name": "UME4", "type": "synonym" } ], "record_id": "P22579-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "P25357-1", "uniprot_ac": "P25357", "uniprot_id": "SNT1_YEAST", "refseq_ac": "NP_009962", "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": "Probable DNA-binding protein SNT1", "type": "recommended" }, { "name": "SANT domain-containing protein 1", "type": "synonym" }, { "name": "Snt1p", "type": "synonym" } ], "gene_names": [ { "name": "SNT1", "type": "recommended" }, { "name": "SNT1", "type": "synonym" }, { "name": "YCR33W", "type": "synonym" }, { "name": "YCR592", "type": "synonym" } ], "record_id": "P25357-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "F7ELE5-1", "uniprot_ac": "F7ELE5", "uniprot_id": "F7ELE5_RAT", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial", "type": "recommended" }, { "name": "7.1.1.2", "type": "synonym" }, { "name": "Complex I-20kD", "type": "synonym" }, { "name": "NADH-ubiquinone oxidoreductase 20 kDa subunit", "type": "synonym" } ], "gene_names": [ { "name": "Ndufs7", "type": "recommended" } ], "record_id": "F7ELE5-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "P14600-1", 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"A0A0G2K7T0-1", "uniprot_ac": "A0A0G2K7T0", "uniprot_id": "A0A0G2K7T0_RAT", "refseq_ac": "NP_001398707", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Runt-related transcription factor", "type": "recommended" }, { "name": "Runt related transcription factor 3", "type": "synonym" }, { "name": "runt-related transcription factor 3 isoform 2", "type": "synonym" }, { "name": "runt-related transcription factor 3", "type": "synonym" } ], "gene_names": [ { "name": "Runx3", "type": "recommended" }, { "name": "Runx3", "type": "synonym" } ], "record_id": "A0A0G2K7T0-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q6P730-1", "uniprot_ac": "Q6P730", "uniprot_id": "DAB2P_RAT", "refseq_ac": "NP_619724", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Disabled homolog 2-interacting protein", "type": "recommended" }, { "name": "AIP-1", "type": "synonym" }, { "name": "ASK-interacting protein 1", "type": "synonym" }, { "name": "DAB2-interacting protein", "type": "synonym" }, { "name": "DIP1/2", "type": "synonym" }, { "name": "DOC-2/DAB2 interactive protein", "type": "synonym" }, { "name": "DOC2/DAB2 interactive protein", "type": "synonym" }, { "name": "disabled homolog 2-interacting protein", "type": "synonym" } ], "gene_names": [ { "name": "Dab2ip", "type": "recommended" }, { "name": "AIP-1", "type": "synonym" }, { "name": "DIP1/2", "type": "synonym" }, { "name": "Dab2ip", "type": "synonym" } ], "record_id": "Q6P730-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "D3ZWW3-1", "uniprot_ac": "D3ZWW3", "uniprot_id": "D3ZWW3_RAT", "refseq_ac": "NP_001128034", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "RAS protein activator like 3", "type": "synonym" }, { "name": "RAS protein activator like-3 isoform 2", "type": "synonym" } ], "gene_names": [ { "name": "Rasal3", "type": "recommended" }, { "name": "RGD1309019", "type": "synonym" }, { "name": "Rasal3", "type": "synonym" } ], "record_id": "D3ZWW3-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "A0ABK0L3V1-1", "uniprot_ac": "A0ABK0L3V1", "uniprot_id": "A0ABK0L3V1_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": "NCK associated protein 1 like", "type": "synonym" } ], "gene_names": [ { "name": "Nckap1l", "type": "recommended" } ], "record_id": "A0ABK0L3V1-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "A0A8I6ABU3-1", "uniprot_ac": "A0A8I6ABU3", "uniprot_id": "A0A8I6ABU3_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": "RAS protein activator like 2", "type": "synonym" } ], "gene_names": [ { "name": "Rasal2", "type": "recommended" } ], "record_id": "A0A8I6ABU3-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "P21677-1", "uniprot_ac": "P21677", "uniprot_id": "TFE2_RAT", "refseq_ac": "NP_001030314", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Transcription factor E2-alpha", "type": "recommended" }, { "name": "Immunoglobulin enhancer-binding factor E12/E47", "type": "synonym" }, { "name": "Pancreas specific transcription factor 1c", "type": "synonym" }, { "name": "TCF-3", "type": "synonym" }, { "name": "Transcription factor 3", "type": "synonym" }, { "name": "Transcription regulator Pan", "type": "synonym" }, { "name": "immunoglobulin enhancer-binding factor E12/E47", "type": "synonym" }, { "name": "pancreas specific transcription factor 1c", "type": "synonym" }, { "name": "transcription factor E2-alpha isoform b", "type": "synonym" }, { "name": "transcription factor E2-alpha", "type": "synonym" }, { "name": "transcription factor E2a-like", "type": "synonym" }, { "name": "transcription factor E2a", "type": "synonym" }, { "name": "transcription regulator Pan", "type": "synonym" } ], "gene_names": [ { "name": "Tcf3", "type": "recommended" }, { "name": "Pan2", "type": "synonym" }, { "name": "Pan", "type": "synonym" }, { "name": "Ptf1c", "type": "synonym" }, { "name": "Tcf3", "type": "synonym" }, { "name": "Tcfe2a", "type": "synonym" } ], "record_id": "P21677-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "P55161-1", "uniprot_ac": "P55161", "uniprot_id": "NCKP1_RAT", "refseq_ac": "NP_113806", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Nck-associated protein 1", "type": "recommended" }, { "name": "Membrane-associated protein HEM-2", "type": "synonym" }, { "name": "NAP 1", "type": "synonym" 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"name": "ASH1-like protein", "type": "synonym" }, { "name": "Absent small and homeotic disks protein 1 homolog", "type": "synonym" }, { "name": "histone-lysine N-methyltransferase ASH1L isoform X2", "type": "synonym" } ], "gene_names": [ { "name": "Ash1l", "type": "recommended" }, { "name": "Ash1l", "type": "synonym" } ], "record_id": "D3ZKH4-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q9QUH6-1", "uniprot_ac": "Q9QUH6", "uniprot_id": "SYGP1_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": "Ras/Rap GTPase-activating protein SynGAP", "type": "recommended" }, { "name": "Neuronal RasGAP", "type": "synonym" }, { "name": "Synaptic Ras GTPase-activating protein 1", "type": "synonym" }, { "name": "Synaptic Ras-GAP 1", "type": "synonym" }, { "name": "p135 SynGAP", "type": "synonym" } ], "gene_names": [ { "name": "Syngap1", "type": "recommended" } ], "record_id": "Q9QUH6-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "P51514-1", "uniprot_ac": "P51514", "uniprot_id": "HTF4_RAT", "refseq_ac": "NP_037308", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Transcription factor 12", "type": "recommended" }, { "name": "DNA-binding protein HTF4", "type": "synonym" }, { "name": "E-box-binding protein", "type": "synonym" }, { "name": "SCBP-alpha", "type": "synonym" }, { "name": "Salivary-specific cAMP response element-binding protein alpha", "type": "synonym" }, { "name": "TCF-12", "type": "synonym" }, { "name": "Transcription factor HTF-4", "type": "synonym" }, { "name": "salivary-specific cAMP response element-binding protein alpha", "type": "synonym" }, { "name": "transcription factor 12", "type": "synonym" }, { "name": "transcription factor HTF-4", "type": "synonym" } ], "gene_names": [ { "name": "Tcf12", "type": "recommended" }, { "name": "SCBP alpha", "type": "synonym" }, { "name": "SCBPA", "type": "synonym" }, { "name": "Tcf12", "type": "synonym" } ], "record_id": "P51514-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "A0A0G2K2Y9-1", "uniprot_ac": "A0A0G2K2Y9", "uniprot_id": "A0A0G2K2Y9_RAT", "refseq_ac": "NP_001101576", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Plexin-B2", "type": "recommended" }, { "name": "plexin-B2 precursor", "type": 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"https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "D3ZDX5-1", "uniprot_ac": "D3ZDX5", "uniprot_id": "D3ZDX5_RAT", "refseq_ac": "NP_001101658", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Plexin-B1", "type": "recommended" }, { "name": "plexin-B1 precursor", "type": "synonym" } ], "gene_names": [ { "name": "Plxnb1", "type": "recommended" }, { "name": "Plxnb1", "type": "synonym" } ], "record_id": "D3ZDX5-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q00960-1", "uniprot_ac": "Q00960", "uniprot_id": "NMDE2_RAT", "refseq_ac": "NP_036706", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Glutamate receptor ionotropic, NMDA 2B", "type": "recommended" }, { "name": "GluN2B", "type": "synonym" }, { "name": "Glutamate [NMDA] receptor subunit epsilon-2", "type": "synonym" }, { "name": "N-methyl D-aspartate receptor subtype 2B", "type": "synonym" }, { "name": "NMDAR2B", "type": "synonym" }, { "name": "NR2B", "type": "synonym" }, { "name": "glutamate [NMDA] receptor subunit epsilon-2", "type": "synonym" }, { "name": "glutamate receptor ionotropic, NMDA 2B precursor", "type": "synonym" }, { "name": "glutamate receptor ionotropic, NMDA 2B", "type": "synonym" }, { "name": "glutamate receptor, ionotropic, N-methyl D-aspartate 2B", "type": "synonym" }, { "name": "glutamate receptor, ionotropic, NMDA2B", "type": "synonym" } ], "gene_names": [ { "name": "Grin2b", "type": "recommended" }, { "name": "GluN2B", "type": "synonym" }, { "name": "Grin2b", "type": "synonym" } ], "record_id": "Q00960-1", "evidence": [ { "id": 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"type": "recommended" }, { "name": "Domino homolog", "type": "synonym" }, { "name": "E1A-binding protein p400 isoform X3", "type": "synonym" }, { "name": "p400 kDa SWI2/SNF2-related protein", "type": "synonym" } ], "gene_names": [ { "name": "Ep400", "type": "recommended" }, { "name": "Ep400", "type": "synonym" } ], "record_id": "A0A0G2JU09-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "P31016-1", "uniprot_ac": "P31016", "uniprot_id": "DLG4_RAT", "refseq_ac": "NP_062567", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Disks large homolog 4", "type": "recommended" }, { "name": "PSD-95", "type": "synonym" }, { "name": "Postsynaptic density protein 95", "type": "synonym" }, { "name": "SAP-90", "type": "synonym" }, { "name": "SAP90", "type": "synonym" }, { "name": "Synapse-associated protein 90", "type": "synonym" }, { "name": "discs, large homolog 4", "type": "synonym" }, { "name": "disks large homolog 4", "type": "synonym" }, { "name": "postsynaptic density protein 95", "type": "synonym" }, { "name": "synapse-associated protein 90", "type": "synonym" }, { "name": "synapse-associated protein SAP90", "type": "synonym" } ], "gene_names": [ { "name": "Dlg4", "type": "recommended" }, { "name": "Dlg4", "type": "synonym" }, { "name": "Dlgh4", "type": "synonym" }, { "name": "PSD95", "type": "synonym" }, { "name": "Psd95", "type": "synonym" }, { "name": "Sap90", "type": "synonym" } ], "record_id": "P31016-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "A0A096MKC0-1", "uniprot_ac": "A0A096MKC0", "uniprot_id": "A0A096MKC0_RAT", "refseq_ac": "NP_001414595", "glycoprotein": "no", "species": [ { "name": "Rattus 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"Postsynaptic density protein PSD-93", "type": "synonym" }, { "name": "channel-associated protein of synapse-110", "type": "synonym" }, { "name": "chapsyn-110", "type": "synonym" }, { "name": "discs, large homolog 2", "type": "synonym" }, { "name": "disks large 1 tumor suppressor protein-like", "type": "synonym" }, { "name": "disks large homolog 2 isoform 1", "type": "synonym" }, { "name": "disks large homolog 2", "type": "synonym" }, { "name": "postsynaptic density protein PSD-93", "type": "synonym" }, { "name": "synaptic density protein PSD-93", "type": "synonym" } ], "gene_names": [ { "name": "Dlg2", "type": "recommended" }, { "name": "Dlg2", "type": "synonym" }, { "name": "Dlgh2", "type": "synonym" } ], "record_id": "Q63622-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "M0RC73-1", "uniprot_ac": "M0RC73", "uniprot_id": "M0RC73_RAT", "refseq_ac": "NP_001386463", "glycoprotein": 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"Snf2-related CREBBP activator protein", "type": "synonym" }, { "name": "helicase SRCAP-like", "type": "synonym" }, { "name": "helicase SRCAP", "type": "synonym" } ], "gene_names": [ { "name": "Srcap", "type": "recommended" }, { "name": "RGD1565642", "type": "synonym" }, { "name": "Srcap", "type": "synonym" } ], "record_id": "A0A8I5ZYJ1-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "P63079-1", "uniprot_ac": "P63079", "uniprot_id": "GBRB3_RAT", "refseq_ac": "NP_058761", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Gamma-aminobutyric acid receptor subunit beta-3", "type": "recommended" }, { "name": "GABA(A) receptor subunit beta-3", "type": "synonym" }, { "name": "GABA-alpha receptor beta-3 subunit", "type": "synonym" }, { "name": "GABAAR subunit beta-3", "type": "synonym" }, { "name": "Gamma-aminobutyric acid receptor beta 3", "type": "synonym" }, { "name": "gamma-aminobutyric acid (GABA) A receptor, beta 3", "type": "synonym" }, { "name": "gamma-aminobutyric acid (GABA-A) receptor, subunit beta 3", "type": "synonym" }, { "name": "gamma-aminobutyric acid receptor subunit beta-3 precursor", "type": "synonym" }, { "name": "gamma-aminobutyric acid receptor subunit beta-3", "type": "synonym" }, { "name": "gamma-aminobutyric acid type A receptor beta 3 subunit", "type": "synonym" }, { "name": "testis gamma-aminobutyric acid receptor subunit beta 3", "type": "synonym" } ], "gene_names": [ { "name": "Gabrb3", "type": "recommended" }, { "name": "Gabrb-3", "type": "synonym" }, { "name": "Gabrb3", "type": "synonym" } ], "record_id": "P63079-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "A0A8I6AD74-1", 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"id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q00959-1", "uniprot_ac": "Q00959", "uniprot_id": "NMDE1_RAT", "refseq_ac": "NP_036705", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Glutamate receptor ionotropic, NMDA 2A", "type": "recommended" }, { "name": "GluN2A", "type": "synonym" }, { "name": "Glutamate [NMDA] receptor subunit epsilon-1", "type": "synonym" }, { "name": "N-methyl D-aspartate receptor subtype 2A", "type": "synonym" }, { "name": "N-methyl-D-aspartate receptor subunit 2A", "type": "synonym" }, { "name": "NMDAR2A", "type": "synonym" }, { "name": "NR2A", "type": "synonym" }, { "name": "glutamate [NMDA] receptor subunit epsilon-1", "type": "synonym" }, { "name": "glutamate receptor ionotropic, NMDA 2A precursor", "type": 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"common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "N(alpha)-acetyltransferase 15, NatA auxiliary subunit", "type": "synonym" }, { "name": "N-alpha-acetyltransferase 15, NatA auxiliary subunit", "type": "synonym" }, { "name": "NMDA receptor regulated 1", "type": "synonym" }, { "name": "NMDA receptor-regulated gene 1", "type": "synonym" } ], "gene_names": [ { "name": "Naa15", "type": "recommended" }, { "name": "Naa15", "type": "synonym" }, { "name": "Narg1", "type": "synonym" } ], "record_id": "D3ZD89-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q6MGB6-1", "uniprot_ac": "Q6MGB6", "uniprot_id": "RING1_RAT", "refseq_ac": "NP_997714", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], 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"IL-6RB", "type": "synonym" }, { "name": "Interleukin-6 signal transducer", "type": "synonym" }, { "name": "Membrane glycoprotein 130", "type": "synonym" }, { "name": "Oncostatin-M receptor subunit alpha", "type": "synonym" }, { "name": "gp130", "type": "synonym" } ], "gene_names": [ { "name": "Il6st", "type": "recommended" } ], "record_id": "P40190-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "P20607-1", "uniprot_ac": "P20607", "uniprot_id": "IL6_RAT", "refseq_ac": "NP_036721", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Interleukin-6", "type": "recommended" }, { "name": "IL-6", "type": "synonym" }, { "name": "Interleukin 6 (interferon, beta 2)", "type": "synonym" }, { "name": "interleukin-6 precursor", "type": 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"NADH-ubiquinone oxidoreductase 20 kDa subunit", "type": "synonym" }, { "name": "NADH: ubiquinone oxidoreductase-like, 20kDa subunit", "type": "synonym" }, { "name": "NADH:ubiquinone oxidoreductase 20 kDa subunit", "type": "synonym" }, { "name": "ND-20L-PB", "type": "synonym" } ], "gene_names": [ { "name": "ND-20L", "type": "recommended" }, { "name": "CG2014", "type": "synonym" }, { "name": "Dmel\\CG2014", "type": "synonym" }, { "name": "Dmel_CG2014", "type": "synonym" }, { "name": "ND-20L", "type": "synonym" }, { "name": "ND20-like", "type": "synonym" }, { "name": "NUKM", "type": "synonym" }, { "name": "dNDUFS7B", "type": "synonym" } ], "record_id": "Q9VAK5-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q9VXK7-1", "uniprot_ac": "Q9VXK7", "uniprot_id": "Q9VXK7_DROME", "refseq_ac": "NP_001285313", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Probable NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial", "type": "recommended" }, { "name": "CG9172-PC", "type": "synonym" }, { "name": "FBpp0073949", "type": "synonym" }, { "name": "NADH dehydrogenase (ubiquinone) 20 kDa subunit, isoform C", "type": "synonym" }, { "name": "NADH ubiquinone oxidoreductase 20 kDa", "type": "synonym" }, { "name": "NADH-UBIQUINONE OXIDOREDUCTASE 20 KDA SUBUNIT", "type": "synonym" }, { "name": "NADH:ubiquinone oxidoreductase 20 kDa subunit", "type": "synonym" }, { "name": "ND-20-PC", "type": "synonym" } ], "gene_names": [ { "name": "ND-20", "type": "recommended" }, { "name": "20 kDa", "type": "synonym" }, { "name": "CG9172", "type": "synonym" }, { "name": "Dmel\\CG9172", "type": "synonym" }, { "name": "Dmel_CG9172", "type": "synonym" }, { "name": "ND-20", "type": "synonym" }, { "name": "ND20", "type": "synonym" }, { "name": "NDUFS7", "type": "synonym" }, { "name": "NUKM", "type": "synonym" }, { "name": "PSST", "type": "synonym" }, { "name": "dNDUFS7A", "type": "synonym" }, { "name": "dNDUFS7", "type": "synonym" } ], "record_id": "Q9VXK7-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "P22814-1", "uniprot_ac": "P22814", "uniprot_id": "RUNT_DROME", "refseq_ac": "NP_001285501", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Segmentation protein Runt", "type": "recommended" }, { "name": "CG1849-PC", "type": "synonym" }, { "name": "legless", "type": "synonym" }, { "name": "run-PC", "type": "synonym" }, { "name": "runt, isoform C", "type": "synonym" }, { "name": "runt", "type": "synonym" }, { "name": "section 1", "type": "synonym" }, { "name": "section 2", "type": "synonym" } ], "gene_names": [ { "name": "run", "type": "recommended" }, { "name": "13.1", "type": "synonym" }, { "name": "1", "type": "synonym" }, { "name": "2", "type": "synonym" }, { "name": "AA33", "type": "synonym" }, { "name": "CG1849", "type": "synonym" }, { "name": "Dmel\\CG1849", "type": "synonym" }, { "name": "Dmel_CG1849", "type": "synonym" }, { "name": "LB5", "type": "synonym" }, { "name": "P235", "type": "synonym" }, { "name": "RUN", "type": "synonym" }, { "name": "Rnt", "type": "synonym" }, { "name": "Runt", "type": "synonym" }, { "name": "Run", "type": "synonym" }, { "name": "l(1)19Ea", "type": "synonym" }, { "name": "l(1)AA33", "type": "synonym" }, { "name": "l(1)B2/13.1", "type": "synonym" }, { "name": "l(1)LB9", "type": "synonym" }, { "name": "lLB5", "type": "synonym" }, { "name": "leg", "type": "synonym" }, { "name": "runt", "type": "synonym" }, { "name": "run", "type": "synonym" } ], 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"name": "dtkr", "type": "synonym" }, { "name": "l(3)s2222", "type": "synonym" } ], "record_id": "P30975-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q9VRA9-1", "uniprot_ac": "Q9VRA9", "uniprot_id": "Q9VRA9_DROME", "refseq_ac": "NP_001259745", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG42267-PC", "type": "synonym" }, { "name": "Runt related B", "type": "synonym" }, { "name": "RunxB-PC", "type": "synonym" }, { "name": "runt related B", "type": "synonym" } ], "gene_names": [ { "name": "RunxB", "type": "recommended" }, { "name": "CG15454", "type": "synonym" }, { "name": "CG15455", "type": "synonym" }, { "name": "CG42267", "type": "synonym" }, { "name": "Dmel\\CG42267", "type": "synonym" }, { 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comb extra", "type": "synonym" }, { "name": "Sex combs extra", "type": "synonym" }, { "name": "dRING protein", "type": "synonym" }, { "name": "dRING1", "type": "synonym" }, { "name": "ring", "type": "synonym" } ], "gene_names": [ { "name": "Sce", "type": "recommended" }, { "name": "CG5595", "type": "synonym" }, { "name": "DRING", "type": "synonym" }, { "name": "Ding", "type": "synonym" }, { "name": "Dmel\\CG5595", "type": "synonym" }, { "name": "Dring", "type": "synonym" }, { "name": "RING/Sce", "type": "synonym" }, { "name": "RING1", "type": "synonym" }, { "name": "RING", "type": "synonym" }, { "name": "Ring/Sce", "type": "synonym" }, { "name": "Ring", "type": "synonym" }, { "name": "Rnf2", "type": "synonym" }, { "name": "SCE", "type": "synonym" }, { "name": "Sce/dRing", "type": "synonym" }, { "name": "Sce", "type": "synonym" }, { "name": "See/dRing", "type": "synonym" }, { "name": "dRING1", "type": "synonym" }, { "name": "dRING", "type": "synonym" }, { "name": "dRNIG", "type": "synonym" }, { "name": "dRing1", "type": "synonym" }, { "name": "dRing", "type": "synonym" }, { "name": "dring", "type": "synonym" }, { "name": "sce", "type": "synonym" } ], "record_id": "Q9VB08-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q9VK19-1", "uniprot_ac": "Q9VK19", "uniprot_id": "Q9VK19_DROME", "refseq_ac": "NP_001260437", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG15481-PB", "type": "synonym" }, { "name": "Ski6, isoform A", "type": "synonym" }, { "name": "Ski6, isoform B", "type": "synonym" }, { "name": "Ski6-PB", "type": "synonym" } ], "gene_names": [ { "name": "Ski6", "type": "recommended" }, { "name": "CG15481", "type": "synonym" }, { "name": "Dmel\\CG15481", "type": "synonym" }, { "name": "Dmel_CG15481", "type": "synonym" }, { "name": "Rrp41", "type": "synonym" }, { "name": "Ski6", "type": "synonym" }, { "name": "dRrp41", "type": "synonym" }, { "name": "dSki6", "type": "synonym" } ], "record_id": "Q9VK19-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "A0A0B4K765-1", "uniprot_ac": "A0A0B4K765", "uniprot_id": "A0A0B4K765_DROME", "refseq_ac": "NP_001246282", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Paired amphipathic helix protein Sin3a", "type": "recommended" }, { "name": "CG8815-PG", "type": "synonym" }, { "name": "Histone deacetylase complex subunit Sin3a", "type": "synonym" }, { "name": "Sin3A, isoform G", "type": "synonym" }, { "name": "Sin3A-PG", "type": "synonym" }, { "name": "Transcriptional corepressor Sin3a", "type": "synonym" }, { "name": "enhancer of GMR-sina 2-3", "type": "synonym" } ], "gene_names": [ { "name": "Sin3A", "type": "recommended" }, { "name": "159A11T", "type": "synonym" }, { "name": "15", "type": "synonym" }, { "name": "27/3", "type": "synonym" }, { "name": "3", "type": "synonym" }, { "name": "97/15", "type": "synonym" }, { "name": "CG8815", "type": "synonym" }, { "name": "Dmel\\CG8815", "type": "synonym" }, { "name": "Dmel_CG8815", "type": "synonym" }, { "name": "ES2-3", "type": "synonym" }, { "name": "ESTS:159A11T", "type": "synonym" }, { "name": "EY2-9", "type": "synonym" }, { "name": "SIN3A", "type": "synonym" }, { "name": "SIN3", "type": "synonym" }, { "name": "Sin 3A", "type": "synonym" }, { "name": "Sin3A", "type": "synonym" }, { "name": "Sin3a", "type": "synonym" }, { "name": "Sin3", "type": "synonym" }, { "name": "dSin3A", "type": "synonym" }, { "name": "dSin3", "type": "synonym" }, { "name": "l(2)08269", "type": "synonym" }, { "name": "l(2)k02703", "type": "synonym" }, { "name": "l(2)k05415", "type": "synonym" }, { "name": "l(2)k09715", "type": "synonym" }, { "name": "ld", "type": "synonym" }, { "name": "sin3A", "type": "synonym" }, { "name": "sin3a", "type": "synonym" }, { "name": "sin3", "type": "synonym" }, { "name": "sni3", "type": "synonym" } ], "record_id": "A0A0B4K765-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "P31007-2", "uniprot_ac": "P31007", "uniprot_id": "DLG1_DROME", "refseq_ac": "NP_001096955", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Disks large 1 tumor suppressor protein", "type": "recommended" }, { "name": "CG1725-PK", "type": "synonym" }, { "name": "Disc-Large", "type": "synonym" }, { "name": "Discs-large 1", "type": "synonym" }, { "name": "Discs-large", "type": "synonym" }, { "name": "Dlg", "type": "synonym" }, { "name": "disc large", "type": "synonym" }, { "name": "disclarge", "type": "synonym" }, { "name": "discs large 1, isoform K", "type": "synonym" }, { "name": "discs large 1", "type": "synonym" }, { "name": "discslarge", "type": "synonym" }, { "name": "disk large", "type": "synonym" }, { "name": "dlg1-PK", "type": "synonym" }, { "name": "lethal(1)benign wing imaginal disc neoplasm", "type": "synonym" }, { "name": "lethal(1)discs large", "type": "synonym" }, { "name": "lethal(1)discs-large", "type": "synonym" }, { "name": "lethal(2)discs large", "type": "synonym" } ], "gene_names": [ { "name": "dlg1", "type": "recommended" }, { "name": "11", "type": "synonym" }, { "name": "CG1725", "type": "synonym" }, { "name": "CG1730", "type": "synonym" }, { "name": "CPD", "type": "synonym" }, { "name": "DLG-A", "type": "synonym" }, { "name": "DLG1", "type": "synonym" }, { "name": "DLG", "type": "synonym" }, { "name": "Discs Large", "type": "synonym" }, { "name": "Discs-large", "type": "synonym" }, { "name": "Dlg-A", "type": "synonym" }, { "name": "Dlg1", "type": "synonym" }, { "name": "DlgA", "type": "synonym" }, { "name": "DlgS97", "type": "synonym" }, { "name": "Dlg", "type": "synonym" }, { "name": "Dmel\\CG1725", "type": "synonym" }, { "name": "Drodlg", "type": "synonym" }, { "name": "PSD-95", "type": "synonym" }, { "name": "PSD95", "type": "synonym" }, { "name": "SAP97", "type": "synonym" }, { "name": "anon-EST:Posey93", "type": "synonym" }, { "name": "anon-WO03040301.258", "type": "synonym" }, { "name": "anon-WO03040301.260", "type": "synonym" }, { "name": "anon-WO03040301.268", "type": "synonym" }, { "name": "d. lg.-1", "type": "synonym" }, { "name": "dlg-1", "type": "synonym" }, { "name": "dlg-A", "type": "synonym" }, { "name": "dlg1", "type": "synonym" }, { "name": "dlgA", "type": "synonym" }, { "name": "dlgS97", "type": "synonym" }, { "name": "dlg", "type": "synonym" }, { "name": "l(1)10Bf", "type": "synonym" }, { "name": "l(1)G0276", "type": "synonym" }, { "name": "l(1)G0342", "type": "synonym" }, { "name": "l(1)G0456", "type": "synonym" }, { "name": "l(1)G19", "type": "synonym" }, { "name": "l(1)L11", "type": "synonym" }, { "name": "l(1)bwn", "type": "synonym" }, { "name": "l(1)d.lg-1", "type": "synonym" }, { "name": "l(1)d.lg.-1", "type": "synonym" }, { "name": "l(1)discs large", "type": "synonym" }, { "name": "l(1)dlg-1", "type": "synonym" }, { "name": "l(1)dlg1", "type": "synonym" }, { "name": "l(1)dlg", "type": "synonym" }, { "name": "l(1)l.pr.-2", "type": "synonym" }, { "name": "l(1)lpr-2", "type": "synonym" }, { "name": "misb", "type": "synonym" } ], "record_id": "P31007-2", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q08832-1", "uniprot_ac": "Q08832", "uniprot_id": "GBRB3_DROME", "refseq_ac": "NP_996469", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Gamma-aminobutyric acid receptor subunit beta-like", "type": "recommended" }, { "name": "CG17336-PC", "type": "synonym" }, { "name": "GABA receptor beta subunit", "type": "synonym" }, { "name": "GABA(A) receptor", "type": "synonym" }, { "name": "Lcch3-PC", "type": "synonym" }, { "name": "Ligand-gated chloride channel homolog 3", "type": "synonym" }, { "name": "ligand-gated chloride channel homologue 3", "type": "synonym" }, { "name": "ligand-gated chloride channel", "type": "synonym" } ], "gene_names": [ { "name": "Lcch3", "type": "recommended" }, { "name": "CG17336", "type": "synonym" }, { "name": "CT38330", "type": "synonym" }, { "name": "DmGABAbeta", "type": "synonym" }, { "name": "DmGA_b", "type": "synonym" }, { "name": "Dmel\\CG17336", "type": "synonym" }, { "name": "LCCH3", "type": "synonym" }, { "name": "Lcch3", "type": "synonym" } ], "record_id": "Q08832-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q7KQM6-1", "uniprot_ac": "Q7KQM6", "uniprot_id": "GGYF1_DROME", "refseq_ac": "NP_001162827", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "GIGYF family protein Gyf", "type": "recommended" }, { "name": "CG11148-PG", "type": "synonym" }, { "name": "Gigyf", "type": "synonym" }, { "name": "Gyf-PG", "type": "synonym" }, { "name": "gigyf, isoform G", "type": "synonym" } ], "gene_names": [ { "name": "Gyf", "type": "recommended" }, { "name": "CG11148", "type": "synonym" }, { "name": "Dmel\\CG11148", "type": "synonym" }, { "name": "GIGYF2", "type": "synonym" }, { "name": "Gyf", "type": "synonym" } ], "record_id": "Q7KQM6-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q9NDJ2-1", "uniprot_ac": "Q9NDJ2", "uniprot_id": "DOM_DROME", "refseq_ac": "NP_524833", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Chromatin remodeling protein domino", "type": "recommended" }, { "name": "3.6.4.-", "type": "synonym" }, { "name": "CG9696-PA", "type": "synonym" }, { "name": "Domino-A", "type": "synonym" }, { "name": "dom-PA", "type": "synonym" }, { "name": "domino DNA dependent ATPase", "type": "synonym" }, { "name": "domino, isoform A", "type": "synonym" }, { "name": "domino", "type": "synonym" } ], "gene_names": [ { "name": "dom", "type": "recommended" }, { "name": "27/4", "type": "synonym" }, { "name": "4", "type": "synonym" }, { "name": "8", "type": "synonym" }, { "name": "CG9696", "type": "synonym" }, { "name": "DOM-A", "type": "synonym" }, { "name": "DOM", "type": "synonym" }, { "name": "Dmel\\CG9696", "type": "synonym" }, { "name": "Dmel_CG9696", "type": "synonym" }, { "name": "DomA", "type": "synonym" }, { "name": "Domino", "type": "synonym" }, { "name": "Dom", "type": "synonym" }, { "name": "anon-WO0172774.190", "type": "synonym" }, { "name": "dDom", "type": "synonym" }, { "name": "dEP400", "type": "synonym" }, { "name": "dom", "type": "synonym" }, { "name": "l(2)81/8", "type": "synonym" }, { "name": "l(2)k02704", "type": "synonym" }, { "name": "l(2)k08108", "type": "synonym" }, { "name": "p400", "type": "synonym" } ], "record_id": "Q9NDJ2-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q9V4A7-1", "uniprot_ac": "Q9V4A7", "uniprot_id": "PLXB_DROME", "refseq_ac": "NP_001245400", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Plexin-B", "type": "recommended" }, { "name": "CG17245-PB", "type": "synonym" }, { "name": "PlexB-PB", "type": "synonym" }, { "name": "Plexin-B", "type": "synonym" }, { "name": "PlexinB", "type": "synonym" }, { "name": "plexin B, isoform B", "type": "synonym" }, { "name": "plexin B", "type": "synonym" }, { "name": "plexin and met-hepatocyte growth factor receptor-like", "type": "synonym" } ], "gene_names": [ { "name": "PlexB", "type": "recommended" }, { "name": "CG17245", "type": "synonym" }, { "name": "Dmel\\CG17245", "type": "synonym" }, { "name": "Dmel_CG17245", "type": "synonym" }, { "name": "PLEXB", "type": "synonym" }, { "name": "Plex B", "type": "synonym" }, { "name": "PlexB", "type": "synonym" }, { "name": "plex B", "type": "synonym" }, { "name": "plexB", "type": "synonym" }, { "name": "plex", "type": "synonym" } ], "record_id": "Q9V4A7-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q9W2N0-1", "uniprot_ac": "Q9W2N0", "uniprot_id": "CAPZA_DROME", "refseq_ac": "NP_611539", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "F-actin-capping protein subunit alpha", "type": "recommended" }, { "name": "CG10540-PA", "type": "synonym" }, { "name": "actin capping protein", "type": "synonym" }, { "name": "actin-capping protein", "type": "synonym" }, { "name": "capping alpha", "type": "synonym" }, { "name": "capping protein A", "type": "synonym" }, { "name": "capping protein alpha", "type": "synonym" }, { "name": "capping proteinalpha", "type": "synonym" }, { "name": "capping protein", "type": "synonym" }, { "name": "cpa-PA", "type": "synonym" } ], "gene_names": [ { "name": "cpa", "type": "recommended" }, { "name": "CG10540", "type": "synonym" }, { "name": "Cap1", "type": "synonym" }, { "name": "CapZalpha", "type": "synonym" }, { "name": "Cp&abg", "type": "synonym" }, { "name": "CpA", "type": "synonym" }, { "name": "Cpa", "type": "synonym" }, { "name": "Dmel\\CG10540", "type": "synonym" }, { "name": "cpalpha", "type": "synonym" }, { "name": "cpa", "type": "synonym" }, { "name": "miro", "type": "synonym" }, { "name": "scrd", "type": "synonym" } ], "record_id": "Q9W2N0-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q9W581-1", "uniprot_ac": "Q9W581", "uniprot_id": "Q9W581_DROME", "refseq_ac": "NP_001014714", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG33513-PC", "type": "synonym" }, { "name": "NMDA receptor 2, isoform C", "type": "synonym" }, { "name": "NMDA receptor", "type": "synonym" }, { "name": "Nmdar2-PC", "type": "synonym" }, { "name": "dNR2", "type": "synonym" } ], "gene_names": [ { "name": "Nmdar2", "type": "recommended" }, { "name": "79G8T", "type": "synonym" }, { "name": "CG14793", "type": "synonym" }, { "name": "CG14794", "type": "synonym" }, { "name": "CG33513", "type": "synonym" }, { "name": "CT34603", "type": "synonym" }, { "name": "DmelNmdar2", "type": "synonym" }, { "name": "Dmel\\CG33513", "type": "synonym" }, { "name": "Dmel_CG33513", "type": "synonym" }, { "name": "DrNR2", "type": "synonym" }, { "name": "EG:80H7.7", "type": "synonym" }, { "name": "ESTS:79G8T", "type": "synonym" }, { "name": "NMDA-R2", "type": "synonym" }, { "name": "NMDAR2", "type": "synonym" }, { "name": "NMDAR", "type": "synonym" }, { "name": "NR2", "type": "synonym" }, { "name": "NmdaR2", "type": "synonym" }, { "name": "Nmdar2", "type": "synonym" }, { "name": "anon-sts34", "type": "synonym" }, { "name": "dNR2", "type": "synonym" }, { "name": "dnmdar-II", "type": "synonym" }, { "name": "dsNR2", "type": "synonym" }, { "name": "nmdar2", "type": "synonym" }, { "name": "nr2", "type": "synonym" } ], "record_id": "Q9W581-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "M9PGZ8-1", "uniprot_ac": "M9PGZ8", "uniprot_id": "M9PGZ8_DROME", "refseq_ac": "NP_001259491", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG4013-PG", "type": "synonym" }, { "name": "SANT domain protein", "type": 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"anon-WO0153538.73", "type": "synonym" }, { "name": "l(1)G0060", "type": "synonym" }, { "name": "l(1)G0361", "type": "synonym" }, { "name": "lincRNA.983", "type": "synonym" }, { "name": "smr", "type": "synonym" } ], "record_id": "M9PGZ8-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q9VWI2-1", "uniprot_ac": "Q9VWI2", "uniprot_id": "Q9VWI2_DROME", "refseq_ac": "NP_001285439", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG12202-PB", "type": "synonym" }, { "name": "N(Alpha)-acetyltransferase 15/16, isoform A", "type": "synonym" }, { "name": "N(Alpha)-acetyltransferase 15/16, isoform B", "type": "synonym" }, { "name": "N(alpha)-acetyltransferase 15/16, isoform B", "type": "synonym" }, { "name": 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] }, { "uniprot_canonical_ac": "Q9VW15-1", "uniprot_ac": "Q9VW15", "uniprot_id": "ASH1_DROME", "refseq_ac": "NP_001246834", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Histone-lysine N-methyltransferase ash1", "type": "recommended" }, { "name": "2.1.1.354", "type": "synonym" }, { "name": "Absent small and homeotic disks protein 1", "type": "synonym" }, { "name": "Absent, small or homeotic 1", "type": "synonym" }, { "name": "Absent, small or homeotic discs 1", "type": "synonym" }, { "name": "Absent, small, or homeotic disc 1", "type": "synonym" }, { "name": "CG8887-PC", "type": "synonym" }, { "name": "Lysine N-methyltransferase 2H", "type": "synonym" }, { "name": "absent small or homeotic 1", "type": "synonym" }, { "name": "absent, small, or homeotic discs 1, isoform C", "type": "synonym" }, { "name": 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"synonym" }, { "name": "dNAP", "type": "synonym" }, { "name": "dNap", "type": "synonym" }, { "name": "dhem-2", "type": "synonym" }, { "name": "dhem", "type": "synonym" }, { "name": "kette", "type": "synonym" }, { "name": "kte", "type": "synonym" }, { "name": "l(3)03335", "type": "synonym" } ], "record_id": "P55162-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q8T498-1", "uniprot_ac": "Q8T498", "uniprot_id": "GAP2_DROME", "refseq_ac": "NP_001097012", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Ras GTPase-activating protein raskol", "type": "recommended" }, { "name": "CG42684-PC", "type": "synonym" }, { "name": "raskol, isoform C", "type": "synonym" }, { "name": "raskol-PC", "type": "synonym" } ], 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], "record_id": "P22680-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "P16410-1", "uniprot_ac": "P16410", "uniprot_id": "CTLA4_HUMAN", "refseq_ac": "NP_001032720", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Cytotoxic T-lymphocyte protein 4", "type": "recommended" }, { "name": "CTLA-4", "type": "synonym" }, { "name": "Cytotoxic T-lymphocyte-associated antigen 4", "type": "synonym" }, { "name": "celiac disease 3", "type": "synonym" }, { "name": "cytotoxic T lymphocyte associated antigen 4 short spliced form", "type": "synonym" }, { "name": "cytotoxic T-lymphocyte protein 4 isoform CTLA-4delTM precursor", "type": "synonym" }, { "name": "cytotoxic T-lymphocyte-associated serine esterase-4", "type": "synonym" }, { "name": "gluten-sensitive enteropathy", "type": "synonym" }, { "name": "insulin-dependent diabetes mellitus 12", "type": "synonym" }, { "name": "ligand and transmembrane spliced cytotoxic T lymphocyte associated antigen 4", "type": "synonym" } ], "gene_names": [ { "name": "CTLA4", "type": "recommended" }, { "name": "ALPS5", "type": "synonym" }, { "name": "CD152", "type": "synonym" }, { "name": "CD", "type": "synonym" }, { "name": "CELIAC3", "type": "synonym" }, { "name": "CTLA-4", "type": "synonym" }, { "name": "CTLA4", "type": "synonym" }, { "name": "GRD4", "type": "synonym" }, { "name": "GSE", "type": "synonym" }, { "name": "IDDM12", "type": "synonym" } ], "record_id": "P16410-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q92771-1", "uniprot_ac": "Q92771", "uniprot_id": "DDX12_HUMAN", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Putative ATP-dependent DNA helicase DDX12", "type": "recommended" }, { "name": "5.6.2.-", "type": "synonym" }, { "name": "CHL1-related protein 2", "type": "synonym" }, { "name": "DEAD/H box protein 12", "type": "synonym" }, { "name": "hCHLR2", "type": "synonym" } ], "gene_names": [ { "name": "DDX12P", "type": "recommended" }, { "name": "CHLR2", "type": "synonym" }, { "name": "DDX12", "type": "synonym" } ], "record_id": "Q92771-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q92841-4", "uniprot_ac": "Q92841", "uniprot_id": "DDX17_HUMAN", "refseq_ac": "NP_006377", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Probable ATP-dependent RNA helicase DDX17", "type": "recommended" }, { "name": "3.6.4.13", "type": "synonym" }, { "name": "DEAD (Asp-Glu-Ala-Asp) box helicase 17", "type": "synonym" }, { "name": "DEAD (Asp-Glu-Ala-Asp) box polypeptide 17", "type": "synonym" }, { "name": "DEAD box protein 17", "type": "synonym" }, { "name": "DEAD box protein p72", "type": "synonym" }, { "name": "DEAD box protein p82", "type": "synonym" }, { "name": "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)", "type": "synonym" }, { "name": "RNA-dependent helicase p72", "type": "synonym" }, { "name": "p72 RNA helicase", "type": "synonym" }, { "name": "probable ATP-dependent RNA helicase DDX17 isoform 1 precursor", "type": "synonym" }, { "name": "probable ATP-dependent RNA helicase DDX17", "type": "synonym" } ], "gene_names": [ { "name": "DDX17", "type": "recommended" }, { "name": "DDX17", "type": "synonym" }, { "name": "P72", "type": "synonym" }, { "name": "RH70", "type": "synonym" } ], "record_id": "Q92841-4", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q16850-1", "uniprot_ac": "Q16850", "uniprot_id": "CP51A_HUMAN", "refseq_ac": "NP_000777", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Lanosterol 14-alpha demethylase", "type": "recommended" }, { "name": "1.14.14.154", "type": "synonym" }, { "name": "CYP51A1", "type": "synonym" }, { "name": "CYPLI", "type": "synonym" }, { "name": "Cytochrome P450 51A1", "type": "synonym" }, { "name": "Cytochrome P450-14DM", "type": "synonym" }, { "name": "Cytochrome P45014DM", "type": "synonym" }, { "name": "Cytochrome P450LI", "type": "synonym" }, { "name": "LDM", "type": "synonym" }, { "name": "Sterol 14-alpha demethylase", "type": "synonym" }, { "name": "cytochrome P450 51A1", "type": 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"https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q9Y5Q0-1", "uniprot_ac": "Q9Y5Q0", "uniprot_id": "FADS3_HUMAN", "refseq_ac": "NP_068373", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Fatty acid desaturase 3", "type": "recommended" }, { "name": "1.14.19.-", "type": "synonym" }, { "name": "Delta(13) desaturase", "type": "synonym" }, { "name": "Delta(13) fatty acid desaturase", "type": "synonym" }, { "name": "FADS3", "type": "synonym" }, { "name": "cytochrome b5-related protein", "type": "synonym" }, { "name": "delta(13) desaturase", "type": "synonym" }, { "name": "delta(13) fatty acid desaturase", "type": "synonym" }, { "name": "delta-9 fatty acid desaturase", "type": "synonym" }, { "name": "delta-9-desaturase", "type": "synonym" }, { "name": "fatty acid desaturase 3", "type": "synonym" }, { "name": "linoleoyl-CoA desaturase (delta-9-desaturase)-like 3", "type": "synonym" } ], "gene_names": [ { "name": "FADS3", "type": "recommended" }, { "name": "CYB5RP", "type": "synonym" }, { "name": "FADS3", "type": "synonym" }, { "name": "LLCDL3", "type": "synonym" } ], "record_id": "Q9Y5Q0-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q9NR48-1", "uniprot_ac": "Q9NR48", "uniprot_id": "ASH1L_HUMAN", "refseq_ac": "NP_060959", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Histone-lysine N-methyltransferase ASH1L", "type": "recommended" }, { "name": "2.1.1.359", "type": "synonym" }, { "name": "2.1.1.367", "type": "synonym" }, { "name": "ASH1-like protein", "type": "synonym" }, { "name": "Absent small and homeotic disks protein 1 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{ "name": "synaptic Ras GTPase activating protein, 135kDa", "type": "synonym" } ], "gene_names": [ { "name": "SYNGAP1", "type": "recommended" }, { "name": "KIAA1938", "type": "synonym" }, { "name": "MRD5", "type": "synonym" }, { "name": "RASA5", "type": "synonym" }, { "name": "SYNGAP1", "type": "synonym" }, { "name": "SYNGAP", "type": "synonym" } ], "record_id": "Q96PV0-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "P55160-1", "uniprot_ac": "P55160", "uniprot_id": "NCKPL_HUMAN", "refseq_ac": "NP_001171905", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Nck-associated protein 1-like", "type": "recommended" }, { "name": "Hematopoietic protein 1", "type": "synonym" }, { "name": "Membrane-associated protein HEM-1", "type": "synonym" 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"https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q9UJF2-1", "uniprot_ac": "Q9UJF2", "uniprot_id": "NGAP_HUMAN", "refseq_ac": "NP_004832", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Ras GTPase-activating protein nGAP", "type": "recommended" }, { "name": "RAS protein activator-like 2", "type": "synonym" }, { "name": "RASAL2/ACVR1 fusion", "type": "synonym" }, { "name": "Ras protein activator like 1", "type": "synonym" }, { "name": "ras GTPase-activating protein nGAP isoform 1", "type": "synonym" }, { "name": "ras GTPase-activating protein nGAP", "type": "synonym" } ], "gene_names": [ { "name": "RASAL2", "type": "recommended" }, { "name": "NGAP", "type": "synonym" }, { "name": "RASAL2", "type": "synonym" } ], "record_id": "Q9UJF2-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q5VWQ8-1", "uniprot_ac": "Q5VWQ8", "uniprot_id": "DAB2P_HUMAN", "refseq_ac": "NP_115941", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Disabled homolog 2-interacting protein", "type": "recommended" }, { "name": "AIP-1", "type": "synonym" }, { "name": "ASK-interacting protein 1", "type": "synonym" }, { "name": "ASK1-interacting protein 1", "type": "synonym" }, { "name": "DAB2 interaction protein", "type": "synonym" }, { "name": "DAB2-interacting protein", "type": "synonym" }, { "name": "DOC-2/DAB-2 interactive protein", "type": "synonym" }, { "name": "DOC-2/DAB2 interactive protein", "type": "synonym" }, { "name": "disabled homolog 2-interacting protein isoform 1", "type": "synonym" }, { "name": "disabled homolog 2-interacting protein", "type": "synonym" }, { "name": "nGAP-like protein", "type": "synonym" } ], "gene_names": [ { "name": "DAB2IP", "type": "recommended" }, { "name": "AF9Q34", "type": "synonym" }, { "name": "AIP-1", "type": "synonym" }, { "name": "AIP1", "type": "synonym" }, { "name": "DAB2IP", "type": "synonym" }, { "name": "DIP1/2", "type": "synonym" }, { "name": "KIAA1743", "type": "synonym" } ], "record_id": "Q5VWQ8-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q9Y2A7-1", "uniprot_ac": "Q9Y2A7", "uniprot_id": "NCKP1_HUMAN", "refseq_ac": "NP_038464", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Nck-associated protein 1", "type": "recommended" }, { "name": "Membrane-associated protein HEM-2", "type": "synonym" }, { "name": "NAP 1", "type": "synonym" }, 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sapiens [9606]" } ], "protein_names": [ { "name": "Gamma-aminobutyric acid receptor subunit beta-3", "type": "recommended" }, { "name": "GABA(A) receptor subunit beta-3", "type": "synonym" }, { "name": "GABA-alpha receptor beta-2 subunit", "type": "synonym" }, { "name": "GABAA receptor beta-3 subunit", "type": "synonym" }, { "name": "GABAAR subunit beta-3", "type": "synonym" }, { "name": "gamma-aminobutyric acid (GABA) A receptor, beta 3", "type": "synonym" }, { "name": "gamma-aminobutyric acid A receptor beta 3", "type": "synonym" }, { "name": "gamma-aminobutyric acid receptor subunit beta-3 isoform 1 precursor", "type": "synonym" }, { "name": "gamma-aminobutyric acid type A receptor beta3 subunit", "type": "synonym" }, { "name": "gamma-aminobutyric acid type A receptor subunit beta 3", "type": "synonym" } ], "gene_names": [ { "name": "GABRB3", "type": "recommended" }, { "name": "DEE43", "type": "synonym" }, { "name": "ECA5", "type": "synonym" }, { "name": "EIEE43", "type": "synonym" 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"0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "P24046-1", "uniprot_ac": "P24046", "uniprot_id": "GBRR1_HUMAN", "refseq_ac": "NP_001243632", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Gamma-aminobutyric acid receptor subunit rho-1", "type": "recommended" }, { "name": "GABA(A) receptor subunit rho-1", "type": "synonym" }, { "name": "GABA(A) receptor, rho 1", "type": "synonym" }, { "name": "GABA(C) receptor", "type": "synonym" }, { "name": "GABAAR subunit rho-1", "type": "synonym" }, { "name": "bA135P14.1 (gamma-aminobutyric acid (GABA) receptor, rho 1)", "type": "synonym" }, { "name": "gamma-aminobutyric acid (GABA) A receptor, rho-1", "type": "synonym" }, { "name": "gamma-aminobutyric acid receptor subunit rho-1 isoform b precursor", "type": "synonym" 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sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Plexin-B3", "type": "recommended" }, { "name": "plexin 6", "type": "synonym" }, { "name": "plexin-B3 isoform 2", "type": "synonym" } ], "gene_names": [ { "name": "PLXNB3", "type": "recommended" }, { "name": "KIAA1206", "type": "synonym" }, { "name": "PLEXB3", "type": "synonym" }, { "name": "PLEXR", "type": "synonym" }, { "name": "PLXN6", "type": "synonym" }, { "name": "PLXNB3", "type": "synonym" } ], "record_id": "Q9ULL4-1", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "uniprot_canonical_ac": "Q9Y4D7-1", "uniprot_ac": "Q9Y4D7", "uniprot_id": "PLXD1_HUMAN", "refseq_ac": "NP_055918", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], 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