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(G protein), alpha activating activity polypeptide O, a isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "gnao1a", "type": "recommended" }, { "name": "gnao1a", "type": "synonym" }, { "name": "gnao1", "type": "synonym" }, { "name": "wu:fq26h05", "type": "synonym" }, { "name": "zgc:73315", "type": "synonym" } ], "record_id": "F8W442-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "A0A8M9PQX0-1", "uniprot_ac": "A0A8M9PQX0", "uniprot_id": "A0A8M9PQX0_DANRE", "refseq_ac": "XP_021323522", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Potassium voltage-gated channel subfamily KQT member 3", "type": "synonym" }, { "name": "potassium voltage-gated channel subfamily KQT member 3", "type": "synonym" } ], "gene_names": [ { "name": "kcnq3", "type": "recommended" }, { "name": "kcnq3", "type": "synonym" } ], "record_id": "A0A8M9PQX0-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "A0AC58H4V5-1", "uniprot_ac": "A0AC58H4V5", "uniprot_id": "A0AC58H4V5_DANRE", "refseq_ac": "XP_073777019", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Potassium voltage-gated channel subfamily KQT member 5 isoform X1", "type": "synonym" }, { "name": "potassium voltage-gated channel subfamily KQT member 5 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "kcnq5a", "type": "recommended" }, { "name": "kcnq5a", "type": "synonym" } ], "record_id": "A0AC58H4V5-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "Q6DKF0-1", "uniprot_ac": "Q6DKF0", "uniprot_id": "MXC_DANRE", "refseq_ac": "NP_001007285", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Interferon-induced GTP-binding protein MxC", "type": "recommended" }, { "name": "IFN-inducible antiviral protein MxC", "type": "synonym" }, { "name": "Interferon-inducible MxC protein", "type": "synonym" }, { "name": "interferon-induced GTP-binding protein MxC", "type": "synonym" }, { "name": "interferon-inducible MxC protein", "type": "synonym" } ], "gene_names": [ { "name": "mxc", "type": "recommended" }, { "name": "mxc", "type": "synonym" }, { "name": "zgc:91988", "type": "synonym" } ], "record_id": "Q6DKF0-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "A0A8M3APM4-1", "uniprot_ac": "A0A8M3APM4", "uniprot_id": "A0A8M3APM4_DANRE", "refseq_ac": "XP_009296165", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Myxovirus (Influenza virus) resistance G isoform X1", "type": "synonym" }, { "name": "myxovirus (influenza virus) resistance G isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "mxg", "type": "recommended" }, { "name": "mxg", "type": "synonym" } ], "record_id": "A0A8M3APM4-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "Q8JH68-1", "uniprot_ac": "Q8JH68", "uniprot_id": "MXA_DANRE", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Interferon-induced GTP-binding protein MxA", "type": "recommended" }, { "name": "IFN-inducible antiviral protein MxA", "type": "synonym" }, { "name": "Interferon-inducible MxA protein", "type": "synonym" } ], "gene_names": [ { "name": "mxa", "type": "recommended" }, { "name": "Mx", "type": "synonym" }, { "name": "fj23d12", "type": "synonym" }, { "name": "wu:fj23d12", "type": "synonym" }, { "name": "zgc:136725", "type": "synonym" } ], "record_id": "Q8JH68-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "Q9CXY9-1", "uniprot_ac": "Q9CXY9", "uniprot_id": "GPI8_MOUSE", "refseq_ac": "NP_079938", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "GPI-anchor transamidase", "type": "recommended" }, { "name": "2.6.1.-", "type": "synonym" }, { "name": "GPI transamidase", "type": "synonym" }, { "name": "GPI-anchor transamidase component PIGK", "type": "synonym" }, { "name": "GPI-anchor transamidase isoform 1 precursor", "type": "synonym" }, { "name": "GPI-anchor transamidase", "type": "synonym" }, { "name": "PIG-K", "type": "synonym" }, { "name": "Phosphatidylinositol-glycan biosynthesis class K protein", "type": "synonym" }, { "name": "phosphatidylinositol-glycan biosynthesis class K protein", "type": "synonym" } ], "gene_names": [ { "name": "Pigk", "type": "recommended" }, { "name": "3000001O05Rik", "type": "synonym" }, { "name": "Gm38470", "type": "synonym" }, { "name": "PIG-K", "type": "synonym" }, { "name": "Pigk", "type": "synonym" } ], "record_id": "Q9CXY9-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "P61460-1", "uniprot_ac": "P61460", "uniprot_id": "DEPD5_MOUSE", "refseq_ac": "NP_001164038", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "GATOR1 complex protein DEPDC5", "type": "recommended" }, { "name": "DEP domain-containing protein 5", "type": "synonym" }, { "name": "GATOR complex protein DEPDC5", "type": "synonym" }, { "name": "GATOR1 complex protein DEPDC5 isoform 3", "type": "synonym" }, { "name": "GATOR1 complex protein DEPDC5", "type": "synonym" } ], "gene_names": [ { "name": "Depdc5", "type": "recommended" }, { "name": "Depdc5", "type": "synonym" }, { "name": "Kiaa0645", "type": "synonym" } ], "record_id": "P61460-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "Q920E3-1", "uniprot_ac": "Q920E3", "uniprot_id": "KCNH5_MOUSE", "refseq_ac": "NP_766393", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Voltage-gated delayed rectifier potassium channel KCNH5", "type": "recommended" }, { "name": "Ether-a-go-go potassium channel 2", "type": "synonym" }, { "name": "Potassium voltage-gated channel subfamily H member 5", "type": "synonym" }, { "name": "Voltage-gated potassium channel subunit Kv10.2", "type": "synonym" }, { "name": "ether-a-go-go potassium channel 2", "type": "synonym" }, { "name": "mEag2", "type": "synonym" }, { "name": "potassium voltage-gated channel subfamily H member 5", "type": "synonym" }, { "name": "voltage-gated delayed rectifier potassium channel KCNH5", "type": "synonym" }, { "name": "voltage-gated potassium channel subunit Kv10.2", "type": "synonym" } ], "gene_names": [ { "name": "Kcnh5", "type": "recommended" }, { "name": "Eag2", "type": "synonym" }, { "name": "Kcnh5", "type": "synonym" }, { "name": "mEag2", "type": "synonym" } ], "record_id": "Q920E3-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "Q9JIS5-1", "uniprot_ac": "Q9JIS5", "uniprot_id": "SV2A_MOUSE", "refseq_ac": "NP_071313", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Synaptic vesicle glycoprotein 2A", "type": "recommended" }, { "name": "Calcium regulator SV2A", "type": "synonym" }, { "name": "Synaptic vesicle protein 2A", "type": "synonym" }, { "name": "Synaptic vesicle protein 2", "type": "synonym" }, { "name": "calcium regulator SV2A", "type": "synonym" }, { "name": "synaptic vesicle glycoprotein 2 a", "type": "synonym" }, { "name": "synaptic vesicle glycoprotein 2A", "type": "synonym" }, { "name": "synaptic vesicle protein 2A", "type": "synonym" }, { "name": "synaptic vesicle protein 2", "type": "synonym" } ], "gene_names": [ { "name": "Sv2a", "type": "recommended" }, { "name": "Kiaa0736", "type": "synonym" }, { "name": "Sv2a", "type": "synonym" }, { "name": "Sv2", "type": "synonym" }, { "name": "mKIAA0736", "type": "synonym" } ], "record_id": "Q9JIS5-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "O35633-1", "uniprot_ac": "O35633", "uniprot_id": "VIAAT_MOUSE", "refseq_ac": "NP_033534", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Vesicular inhibitory amino acid transporter", "type": "recommended" }, { "name": "GABA and glycine transporter", "type": "synonym" }, { "name": "Solute carrier family 32 member 1", "type": "synonym" }, { "name": "Vesicular GABA and glycine transporter", "type": "synonym" }, { "name": "Vesicular GABA transporter", "type": "synonym" }, { "name": "mVGAT", "type": "synonym" }, { "name": "mVIAAT", "type": "synonym" }, { "name": "solute carrier family 32 member 1", "type": "synonym" }, { "name": "vasicular inhibitory amino acid transporter 10D", "type": "synonym" }, { "name": "vesicular GABA and glycine transporter", "type": "synonym" }, { "name": "vesicular GABA transporter a form", "type": "synonym" }, { "name": "vesicular inhibitory amino acid transporter", "type": "synonym" } ], "gene_names": [ { "name": "Slc32a1", "type": "recommended" }, { "name": "Slc32a1", "type": "synonym" }, { "name": "VGAT", "type": "synonym" }, { "name": "Vgat", "type": "synonym" }, { "name": "Viaat", "type": "synonym" } ], "record_id": "O35633-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "Q9CZ28-1", "uniprot_ac": "Q9CZ28", "uniprot_id": "SNF8_MOUSE", "refseq_ac": "NP_291046", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Vacuolar-sorting protein SNF8", "type": "recommended" }, { "name": "ESCRT-II complex subunit VPS22", "type": "synonym" }, { "name": "vacuolar-sorting protein SNF8 isoform 1", "type": "synonym" }, { "name": "vacuolar-sorting protein SNF8", "type": "synonym" } ], "gene_names": [ { "name": "Snf8", "type": "recommended" }, { "name": "D11Moh34", "type": "synonym" }, { "name": "Snf8", "type": "synonym" } ], "record_id": "Q9CZ28-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "Q99M01-1", "uniprot_ac": "Q99M01", 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"https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "Q64324-1", "uniprot_ac": "Q64324", "uniprot_id": "STXB2_MOUSE", "refseq_ac": "NP_035633", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Syntaxin-binding protein 2", "type": "recommended" }, { "name": "Munc-18b", "type": "synonym" }, { "name": "Munc18-2", "type": "synonym" }, { "name": "Protein unc-18 homolog 2", "type": "synonym" }, { "name": "Protein unc-18 homolog B", "type": "synonym" }, { "name": "Unc-18B", "type": "synonym" }, { "name": "Unc18-2", "type": "synonym" }, { "name": "muSec1", "type": "synonym" }, { "name": "protein unc-18 homolog 2", "type": "synonym" }, { "name": "protein unc-18 homolog B", "type": "synonym" }, { "name": "syntaxin binding protein Munc18-2", "type": "synonym" }, { "name": "syntaxin-binding protein 2 isoform 2", "type": "synonym" } ], "gene_names": [ { "name": "Stxbp2", "type": "recommended" }, { "name": "Munc-18-2", "type": "synonym" }, { "name": "Munc-18b", "type": "synonym" }, { "name": "Munc18b", "type": "synonym" }, { "name": "Stxbp2", "type": "synonym" }, { "name": "Sxtbp2", "type": "synonym" }, { "name": "Sxtp2", "type": "synonym" }, { "name": "Unc18-2", "type": "synonym" }, { "name": "Unc18b", "type": "synonym" }, { "name": "muSec1", "type": "synonym" } ], "record_id": "Q64324-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "O08599-1", "uniprot_ac": "O08599", "uniprot_id": "STXB1_MOUSE", "refseq_ac": "NP_001107041", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Syntaxin-binding protein 1", "type": "recommended" }, { "name": "Protein unc-18 homolog 1", "type": "synonym" }, { "name": "Protein unc-18 homolog A", "type": "synonym" }, { "name": "UNC-18 homolog", "type": "synonym" }, { "name": "Unc-18A", "type": "synonym" }, { "name": "Unc18-1", "type": "synonym" }, { "name": "minisatellite 10g detected by probe MMS10", "type": "synonym" }, { "name": "protein unc-18 homolog 1", "type": "synonym" }, { "name": "protein unc-18 homolog A", "type": "synonym" }, { "name": "syntaxin-binding protein 1 isoform a", "type": "synonym" }, { "name": "unc-18-1", "type": "synonym" }, { "name": "unc-18A", "type": "synonym" } ], "gene_names": [ { "name": "Stxbp1", "type": "recommended" }, { "name": "MMS10-G", "type": "synonym" }, { "name": "Ms10g", "type": "synonym" }, { "name": "Munc-18a", "type": "synonym" }, { "name": "Munc18-1", "type": "synonym" }, { "name": "N-sec1", "type": "synonym" }, { "name": "Rb-sec1", "type": "synonym" }, { "name": "Stxbp1", "type": "synonym" }, { "name": "Sxtbp1", "type": "synonym" }, { "name": 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4 isoform 1", "type": "synonym" }, { "name": "potassium voltage-gated channel subfamily KQT member 4", "type": "synonym" }, { "name": "voltage-gated potassium channel subunit Kv7.4", "type": "synonym" } ], "gene_names": [ { "name": "Kcnq4", "type": "recommended" }, { "name": "Kcnq4", "type": "synonym" } ], "record_id": "Q9JK97-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "Q9JK45-1", "uniprot_ac": "Q9JK45", "uniprot_id": "KCNQ5_MOUSE", "refseq_ac": "NP_076361", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Potassium voltage-gated channel subfamily KQT member 5", "type": "recommended" }, { "name": "KQT-like 5", "type": "synonym" }, { "name": "Potassium channel subunit alpha KvLQT5", "type": "synonym" }, { "name": "Voltage-gated 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"type": "recommended" }, { "name": "ESCRT-II complex subunit VPS22", "type": "synonym" }, { "name": "ESCRT-II subunit protein SNF8", "type": "synonym" }, { "name": "Vacuolar protein-sorting-associated protein 22", "type": "synonym" } ], "gene_names": [ { "name": "SNF8", "type": "recommended" }, { "name": "SNF8", "type": "synonym" }, { "name": "VPL14", "type": "synonym" }, { "name": "VPS22", "type": "synonym" } ], "record_id": "Q12483-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "P08425-1", "uniprot_ac": "P08425", "uniprot_id": "SYFM_YEAST", "refseq_ac": "NP_015372", "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": "Phenylalanine--tRNA ligase, mitochondrial", "type": "recommended" }, { 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"type": "recommended" }, { "name": "SEC1", "type": "synonym" }, { "name": "YD8358.18C", "type": "synonym" } ], "record_id": "P30619-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "P08539-1", "uniprot_ac": "P08539", "uniprot_id": "GPA1_YEAST", "refseq_ac": "NP_011868", "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": "Guanine nucleotide-binding protein alpha-1 subunit", "type": "recommended" }, { "name": "GP1-alpha", "type": "synonym" }, { "name": "guanine nucleotide-binding protein subunit alpha", "type": "synonym" } ], "gene_names": [ { "name": "GPA1", "type": "recommended" }, { "name": "CDC70", "type": "synonym" }, { "name": "DAC1", "type": "synonym" }, { "name": "GPA1", "type": 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"uniprot_canonical_ac": "Q5PQL7-1", "uniprot_ac": "Q5PQL7", "uniprot_id": "ITM2C_RAT", "refseq_ac": "NP_001009674", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Integral membrane protein 2C", "type": "recommended" }, { "name": "integral membrane protein 2C", "type": "synonym" }, { "name": "integral membrane protein 3", "type": "synonym" } ], "gene_names": [ { "name": "Itm2c", "type": "recommended" }, { "name": "Itm2c", "type": "synonym" } ], "record_id": "Q5PQL7-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "A0A8I5YBC5-1", "uniprot_ac": "A0A8I5YBC5", "uniprot_id": "A0A8I5YBC5_RAT", "refseq_ac": "NP_001423834", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "GATOR1 complex protein DEPDC5", "type": "recommended" }, { "name": "DEP domain-containing protein 5", "type": "synonym" }, { "name": "GATOR complex protein DEPDC5", "type": "synonym" }, { "name": "GATOR1 complex protein DEPDC5 isoform 2", "type": "synonym" }, { "name": "GATOR1 complex protein DEPDC5", "type": "synonym" } ], "gene_names": [ { "name": "Depdc5", "type": "recommended" }, { "name": "Depdc5", "type": "synonym" } ], "record_id": "A0A8I5YBC5-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "Q9EPI9-1", "uniprot_ac": "Q9EPI9", "uniprot_id": "KCNH5_RAT", "refseq_ac": "NP_598294", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Voltage-gated delayed rectifier potassium channel KCNH5", "type": "recommended" }, { "name": "Ether-a-go-go potassium channel 2", "type": "synonym" }, { "name": "Potassium voltage-gated channel subfamily H member 5", "type": "synonym" }, { "name": "Voltage-gated potassium channel subunit Kv10.2", "type": "synonym" }, { "name": "ether-a-go-go potassium channel 2", "type": "synonym" }, { "name": "potassium channel, voltage gated eag related subfamily H, member 5", "type": "synonym" }, { "name": "potassium voltage-gated channel, subfamily H (eag-related), member 5", "type": "synonym" }, { "name": "rEAG2", "type": "synonym" }, { "name": "voltage-gated delayed rectifier potassium channel KCNH5", "type": "synonym" }, { "name": "voltage-gated potassium channel subunit Kv10.2", "type": "synonym" } ], "gene_names": [ { "name": "Kcnh5", "type": "recommended" }, { "name": "Eag2", "type": "synonym" }, { "name": "Kcnh5", "type": "synonym" } ], "record_id": "Q9EPI9-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "O35458-1", "uniprot_ac": "O35458", "uniprot_id": "VIAAT_RAT", "refseq_ac": "NP_113970", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Vesicular inhibitory amino acid transporter", "type": "recommended" }, { "name": "GABA and glycine transporter", "type": "synonym" }, { "name": "RUNC-47", "type": "synonym" }, { "name": "Solute carrier family 32 member 1", "type": "synonym" }, { "name": "UNC-47 homolog", "type": "synonym" }, { "name": "Vesicular GABA transporter", "type": "synonym" }, { "name": "rGVAT", "type": "synonym" }, { "name": "rat UNC-47 homolog", "type": "synonym" }, { "name": "solute carrier family 32 (GABA vesicular transporter), member 1", "type": "synonym" }, { "name": "vesicular GABA transporter", "type": "synonym" }, { "name": "vesicular inhibitory amino acid transporter-like", "type": "synonym" }, { "name": "vesicular inhibitory amino acid transporter", "type": "synonym" } ], "gene_names": [ { "name": "Slc32a1", "type": "recommended" }, { "name": "RUNC-47", "type": "synonym" }, { "name": "Slc32a1", "type": "synonym" }, { "name": "Vgat", "type": "synonym" }, { "name": "Viaat", "type": "synonym" } ], "record_id": "O35458-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "Q02563-1", "uniprot_ac": "Q02563", "uniprot_id": "SV2A_RAT", "refseq_ac": "NP_476558", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Synaptic vesicle glycoprotein 2A", "type": "recommended" }, { "name": "Synaptic vesicle protein 2A", "type": "synonym" }, { "name": "Synaptic vesicle protein 2", "type": "synonym" }, { "name": "synaptic vesicle glycoprotein 2A", "type": "synonym" }, { "name": "synaptic vesicle protein 2A", "type": "synonym" }, { "name": "synaptic vesicle protein 2", "type": "synonym" }, { "name": "synaptic vesicle transmembrane transporter (SV2) RNA", "type": "synonym" } ], "gene_names": [ { "name": "Sv2a", "type": "recommended" }, { "name": "Sv2a", "type": "synonym" }, { "name": "Sv2", "type": "synonym" } ], "record_id": "Q02563-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "Q5RK19-1", "uniprot_ac": "Q5RK19", "uniprot_id": "SNF8_RAT", "refseq_ac": "NP_001007805", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Vacuolar-sorting protein 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"reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Phenylalanine--tRNA ligase, mitochondrial", "type": "recommended" }, { "name": "6.1.1.20", "type": "synonym" }, { "name": "PheRS", "type": "synonym" }, { "name": "Phenylalanyl-tRNA synthetase", "type": "synonym" }, { "name": "pheRS", "type": "synonym" }, { "name": "phenylalanine--tRNA ligase, mitochondrial isoform 1", "type": "synonym" }, { "name": "phenylalanine--tRNA ligase, mitochondrial", "type": "synonym" }, { "name": "phenylalanine-tRNA synthetase 1 (mitochondrial)", "type": "synonym" }, { "name": "phenylalanine-tRNA synthetase 2 (mitochondrial)", "type": "synonym" }, { "name": "phenylalanyl-tRNA synthetase, mitochondrial", "type": "synonym" } ], "gene_names": [ { "name": "Fars2", "type": "recommended" }, { "name": "Fars1", "type": "synonym" }, { "name": "Fars2", "type": "synonym" } ], "record_id": "Q6AYQ3-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "O88943-1", "uniprot_ac": "O88943", "uniprot_id": "KCNQ2_RAT", "refseq_ac": "NP_579856", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Potassium voltage-gated channel subfamily KQT member 2", "type": "recommended" }, { "name": "KQT-like 2", "type": "synonym" }, { "name": "Potassium channel subunit alpha KvLQT2", "type": "synonym" }, { "name": "Voltage-gated potassium channel subunit Kv7.2", "type": "synonym" }, { "name": "potassium channel subunit alpha KvLQT2", "type": "synonym" }, { "name": "potassium channel, voltage-gated KQT-like subfamily Q, member 2", "type": "synonym" }, { "name": "potassium voltage-gated channel subfamily KQT member 2", "type": "synonym" }, { "name": "potassium voltage-gated channel, KQT-like subfamily, member 2", "type": "synonym" }, { "name": "voltage-gated potassium channel subunit Kv7.2", "type": "synonym" } ], "gene_names": [ { "name": "Eef1a1l1", "type": "recommended" }, { "name": "Eef1a2", "type": "recommended" }, { "name": "Kcnq2", "type": "recommended" }, { "name": "Eef1a1l1", "type": "synonym" }, { "name": "Eef1a1", "type": "synonym" }, { "name": "Kcnq2", "type": "synonym" }, { "name": "LOC100360413", "type": "synonym" } ], "record_id": "O88943-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "O88944-1", "uniprot_ac": "O88944", "uniprot_id": "KCNQ3_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": "Potassium voltage-gated channel subfamily KQT member 3", "type": "recommended" }, { "name": "KQT-like 3", "type": "synonym" }, { "name": "Potassium channel subunit alpha KvLQT3", "type": "synonym" }, { "name": "Voltage-gated potassium channel subunit Kv7.3", "type": "synonym" } ], "gene_names": [ { "name": "Kcnq3", "type": "recommended" } ], "record_id": "O88944-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "A0A8I5ZXW9-1", "uniprot_ac": "A0A8I5ZXW9", "uniprot_id": "A0A8I5ZXW9_RAT", "refseq_ac": "XP_038939022", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Potassium voltage-gated channel subfamily Q member 5", "type": "synonym" }, { "name": "potassium voltage-gated channel subfamily KQT member 5 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "Kcnq5", "type": "recommended" }, { "name": "Kcnq5l", "type": "synonym" }, { "name": "Kcnq5", "type": "synonym" } ], "record_id": "A0A8I5ZXW9-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "Q62753-1", "uniprot_ac": "Q62753", "uniprot_id": "STXB2_RAT", "refseq_ac": "NP_112388", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Syntaxin-binding protein 2", "type": "recommended" }, { "name": "Munc18-2", "type": "synonym" }, { "name": "Protein unc-18 homolog 2", "type": "synonym" }, { "name": "Protein unc-18 homolog B", "type": "synonym" }, { "name": "Unc-18B", "type": "synonym" }, { "name": "Unc18-2", "type": "synonym" }, { "name": "munc18-2", "type": "synonym" }, { "name": "protein unc-18 homolog 2", "type": "synonym" }, { "name": "protein unc-18 homolog B", "type": "synonym" }, { "name": "syntaxin binding protein Munc18-2", "type": "synonym" }, { "name": "syntaxin-binding protein 2 isoform 1", "type": "synonym" }, { "name": "unc-18 homolog 2", "type": "synonym" }, { "name": "unc-18 homolog B", "type": "synonym" }, { "name": "unc-18B", "type": "synonym" }, { "name": "unc18-2", "type": "synonym" } ], "gene_names": [ { "name": "Stxbp2", "type": "recommended" }, { "name": "Munc18b", "type": "synonym" }, { "name": "Stxbp2", "type": "synonym" }, { "name": "Unc18b", "type": "synonym" } ], "record_id": "Q62753-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "P59215-1", "uniprot_ac": "P59215", "uniprot_id": "GNAO_RAT", "refseq_ac": "NP_059023", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Guanine nucleotide-binding protein G(o) subunit alpha", "type": "recommended" }, { "name": "3.6.5.-", "type": "synonym" }, { "name": "GTP-binding protein alpha o", "type": "synonym" }, { "name": "guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O", "type": "synonym" }, { "name": "guanine nucleotide binding protein, alpha O polypeptide 1", "type": "synonym" }, { "name": "guanine nucleotide-binding protein G(o) subunit alpha isoform B", "type": "synonym" }, { "name": "guanine nucleotide-binding protein G(o) subunit alpha", "type": "synonym" }, { "name": "heterotrimeric guanine nucleotide-binding protein 1g", "type": "synonym" } ], "gene_names": [ { "name": "Gnao1", "type": "recommended" }, { "name": "Gna0", "type": "synonym" }, { "name": "Gnao1", "type": "synonym" }, { "name": "Gnao", "type": "synonym" }, { "name": "Hg1g", "type": "synonym" }, { "name": "RATBPGTPC", "type": "synonym" } ], "record_id": "P59215-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "P61765-1", "uniprot_ac": "P61765", "uniprot_id": "STXB1_RAT", "refseq_ac": "NP_037170", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Syntaxin-binding protein 1", "type": "recommended" }, { "name": "N-Sec1", "type": "synonym" }, { "name": "Protein unc-18 homolog 1", "type": "synonym" }, { "name": "Protein unc-18 homolog A", "type": "synonym" }, { "name": "Unc-18A", "type": "synonym" }, { "name": "Unc18-1", "type": "synonym" }, { "name": "p67", "type": "synonym" }, { "name": "protein unc-18 homolog 1", "type": "synonym" }, { "name": "protein unc-18 homolog A", "type": "synonym" }, { "name": "rbSec1", "type": "synonym" }, { "name": "syntaxin-binding protein 1", "type": "synonym" }, { "name": "unc-18 homolog", "type": "synonym" }, { "name": "unc-18-1", "type": "synonym" }, { "name": "unc-18A", "type": "synonym" } ], "gene_names": [ { "name": "Stxbp1", "type": "recommended" }, { "name": "ANC18HA", "type": "synonym" }, { "name": "Munc18-1", "type": "synonym" }, { "name": "NSEC1A", "type": "synonym" }, { "name": "Sec1", "type": "synonym" }, { "name": "Stxbp1", "type": "synonym" }, { "name": "Unc18-1", "type": "synonym" }, { "name": "Unc18a", "type": "synonym" }, { "name": "n-sec1", "type": "synonym" }, { "name": "nSec1", "type": "synonym" }, { "name": "rbSec1A", "type": "synonym" }, { "name": "rbSec1B", "type": "synonym" }, { "name": "rbSec1", "type": "synonym" } ], "record_id": "P61765-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "P18588-1", "uniprot_ac": "P18588", "uniprot_id": "MX1_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": "Interferon-induced GTP-binding protein Mx1", "type": "recommended" }, { "name": "Myxoma resistance protein 1", "type": "synonym" }, { "name": "Myxovirus resistance protein 1", "type": "synonym" } ], "gene_names": [ { "name": "Mx1", "type": "recommended" } ], "record_id": "P18588-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "A0ABK0LCR6-1", "uniprot_ac": "A0ABK0LCR6", "uniprot_id": "A0ABK0LCR6_RAT", "refseq_ac": "NP_001408462", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Cyclin-dependent kinase-like 5", "type": "recommended" }, { "name": "2.7.11.22", "type": "synonym" }, { "name": "cyclin-dependent kinase-like 5", "type": "synonym" } ], "gene_names": [ { "name": "Cdkl5", "type": "recommended" }, { "name": "Cdkl5", "type": "synonym" } ], "record_id": "A0ABK0LCR6-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "P15387-1", "uniprot_ac": "P15387", "uniprot_id": "KCNB1_RAT", "refseq_ac": "NP_037318", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Potassium voltage-gated channel subfamily B member 1", "type": "recommended" }, { "name": "DRK1", "type": "synonym" }, { "name": "Delayed rectifier potassium channel 1", "type": "synonym" }, { "name": "Voltage-gated potassium channel subunit Kv2.1", "type": "synonym" }, { "name": "delayed rectifier potassium channel 1", "type": "synonym" }, { "name": "potassium channel Kv2.1", "type": "synonym" }, { "name": "potassium channel, voltage gated Shab-related subfamily B, member 1", "type": "synonym" }, { "name": "potassium voltage gated channel, Shab-related subfamily, member 1", "type": "synonym" }, { "name": "potassium voltage-gated channel subfamily B member 1", "type": "synonym" }, { "name": "voltage-gated potassium channel subunit Kv2.1", "type": "synonym" } ], "gene_names": [ { "name": "Kcnb1", "type": "recommended" }, { "name": "DRK1PC", "type": "synonym" }, { "name": "Kcnb1", "type": "synonym" }, { "name": "Kcr1-1", "type": "synonym" }, { "name": "Kv2.1", "type": "synonym" }, { "name": "Shab", "type": "synonym" } ], "record_id": "P15387-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "Q9W0E3-1", "uniprot_ac": "Q9W0E3", "uniprot_id": "IML1_DROME", "refseq_ac": "NP_647618", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "GATOR complex protein Iml1", "type": "recommended" }, { "name": "CG12090-PB", "type": "synonym" }, { "name": "Iml1-PB", "type": "synonym" }, { "name": "Increased minichromosome loss 1", "type": "synonym" }, { "name": "increased minichromosome loss 1, isoform B", "type": "synonym" } ], "gene_names": [ { "name": "Iml1", "type": "recommended" }, { "name": "CG12090", "type": "synonym" }, { "name": "DEPDC5", "type": "synonym" }, { "name": "Dmel\\CG12090", "type": "synonym" }, { "name": "Dmel_CG12090", "type": "synonym" }, { "name": "GATOR1", "type": "synonym" }, { "name": "IMl1", "type": "synonym" }, { "name": "Iml1", "type": "synonym" }, { "name": "SEA1", "type": "synonym" }, { "name": "iml1", "type": "synonym" }, { "name": "iml", "type": "synonym" } ], "record_id": "Q9W0E3-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "Q02280-1", "uniprot_ac": "Q02280", "uniprot_id": "KCNAE_DROME", "refseq_ac": "NP_511158", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Potassium voltage-gated channel protein eag", "type": "recommended" }, { "name": "CG10952-PA", "type": "synonym" }, { "name": "Ether-a-go-go protein", "type": "synonym" }, { "name": "eag-PA", "type": "synonym" }, { "name": "ether a go-go, isoform A", "type": "synonym" }, { "name": "ether-a go-go", "type": "synonym" }, { "name": "ether-a-go-go", "type": "synonym" }, { "name": "ether-a-gogo", "type": "synonym" } ], "gene_names": [ { "name": "eag", "type": "recommended" }, { "name": "CG10952", "type": "synonym" }, { "name": "CIKE", "type": "synonym" }, { "name": "Dmel\\CG10952", "type": "synonym" }, { "name": "Dmel_CG10952", "type": "synonym" }, { "name": "EAG", "type": "synonym" }, { "name": "Eag", "type": "synonym" }, { "name": "eag", "type": "synonym" } ], "record_id": "Q02280-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "Q9W3W9-1", "uniprot_ac": "Q9W3W9", "uniprot_id": "Q9W3W9_DROME", "refseq_ac": "NP_001284957", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Major facilitator superfamily (MFS) profile domain-containing protein", "type": "recommended" }, { "name": "CG3168-PD", "type": "synonym" }, { "name": "uncharacterized protein, isoform D", "type": "synonym" } ], "gene_names": [ { "name": "LP06294.5prime", "type": "recommended" }, { "name": "BEST:LP06294", "type": "synonym" }, { "name": "CG3168", "type": "synonym" }, { "name": "Dmel\\CG3168", "type": "synonym" }, { "name": "Dmel_CG3168", "type": "synonym" }, { "name": "LP06294.5prime", "type": "synonym" }, { "name": "Slc22a18", "type": "synonym" } ], "record_id": "Q9W3W9-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "A1Z9M6-1", "uniprot_ac": "A1Z9M6", "uniprot_id": "A1Z9M6_DROME", "refseq_ac": "NP_610938", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Vesicular inhibitory amino acid transporter", "type": "recommended" }, { "name": "CG8394-PA", "type": "synonym" }, { "name": "Solute carrier family 32 member 1", "type": "synonym" }, { "name": "VGAT-PA", "type": "synonym" }, { "name": "Vesicular GABA transporter", "type": "synonym" }, { "name": "vesicular GABA transporter", "type": "synonym" } ], "gene_names": [ { "name": "VGAT", "type": "recommended" }, { "name": "CG8394.2", "type": "synonym" }, { "name": "CG8394", "type": "synonym" }, { "name": "Dmel\\CG8394", "type": "synonym" }, { "name": "Dmel_CG8394", "type": "synonym" }, { "name": "VGAT", "type": "synonym" }, { "name": "VIAAT", "type": "synonym" }, { "name": "Vgat", "type": "synonym" }, { "name": "dVGAT", "type": "synonym" }, { "name": "vGAT", "type": "synonym" } ], "record_id": "A1Z9M6-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "Q9VD72-1", "uniprot_ac": "Q9VD72", "uniprot_id": "Q9VD72_DROME", "refseq_ac": "NP_650987", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Vacuolar-sorting protein SNF8", "type": "recommended" }, { "name": "CG6637-PA", "type": "synonym" }, { "name": "larsen", "type": "synonym" }, { "name": "lsn-PA", "type": "synonym" } ], "gene_names": [ { "name": "lsn", "type": "recommended" }, { "name": "CG6637", "type": "synonym" }, { "name": "Dmel\\CG6637", "type": "synonym" }, { "name": "Dmel_CG6637", "type": "synonym" }, { "name": "Lsn", "type": "synonym" }, { "name": "Vps22", "type": "synonym" }, { "name": "lsn", "type": "synonym" }, { "name": "vps22", "type": "synonym" } ], "record_id": "Q9VD72-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "A1Z856-1", "uniprot_ac": "A1Z856", "uniprot_id": "A1Z856_DROME", "refseq_ac": "NP_788300", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG33135-PF", "type": "synonym" }, { "name": "KCNQ potassium channel, isoform F", "type": "synonym" }, { "name": "KCNQ-PF", "type": "synonym" }, { "name": "KCNQ-type K[+] channel", "type": "synonym" } ], "gene_names": [ { "name": "KCNQ", "type": "recommended" }, { "name": "CG12215", "type": "synonym" }, { "name": "CG12915", "type": "synonym" }, { "name": "CG33135", "type": "synonym" }, { "name": "DKCNQ", "type": "synonym" }, { "name": "Dmel\\CG33135", "type": "synonym" }, { "name": "Dmel_CG33135", "type": "synonym" }, { "name": "KCNQ1", "type": "synonym" }, { "name": "KCNQ", "type": "synonym" }, { "name": "KQT 1", "type": "synonym" }, { "name": "KQT", "type": "synonym" }, { "name": "dKCNQ", "type": "synonym" }, { "name": "kcnq1", "type": "synonym" } ], "record_id": "A1Z856-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "Q07327-1", "uniprot_ac": "Q07327", "uniprot_id": "ROP_DROME", "refseq_ac": "NP_001261404", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Protein ROP", "type": "recommended" }, { "name": "CG15811-PB", "type": "synonym" }, { "name": "Ras opposite, isoform B", "type": "synonym" }, { "name": "Rop-PB", "type": "synonym" }, { "name": "ras opposite", "type": "synonym" } ], "gene_names": [ { "name": "Rop", "type": "recommended" }, { "name": "CG15811", "type": "synonym" }, { "name": "Dmel\\CG15811", "type": "synonym" }, { "name": "Dmel_CG15811", "type": "synonym" }, { "name": "ROP", "type": "synonym" }, { "name": "Rop", "type": "synonym" }, { "name": "SEC1", "type": "synonym" }, { "name": "Unc18", "type": "synonym" }, { "name": "cs1", "type": "synonym" }, { "name": "l(3)64Ah", "type": "synonym" }, { "name": "l(3)SH16", "type": "synonym" }, { "name": "ras2", "type": "synonym" }, { "name": "rop(Sec1)", "type": "synonym" }, { "name": "rop", "type": "synonym" }, { "name": "sec1", "type": "synonym" } ], "record_id": "Q07327-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "P16378-1", "uniprot_ac": "P16378", "uniprot_id": "GNAO_DROME", "refseq_ac": "NP_523684", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "G protein alpha o subunit", "type": "recommended" }, { "name": "CG2204-PA", "type": "synonym" }, { "name": "G protein alpha o subunit", "type": "synonym" }, { "name": "G protein alpha subunit o, isoform A", "type": "synonym" }, { "name": "G protein o alpha 47A", "type": "synonym" }, { "name": "G protein oalpha 47A", "type": "synonym" }, { "name": "Galphao-PA", "type": "synonym" }, { "name": "Guanine nucleotide-binding protein G(o) subunit alpha 47A", "type": "synonym" }, { "name": "brokenhearted", "type": "synonym" }, { "name": "brokenheart", "type": "synonym" }, { "name": "drogpad", "type": "synonym" } ], "gene_names": [ { "name": "Galphao", "type": "recommended" }, { "name": "Bkh", "type": "synonym" }, { "name": "CG2204", "type": "synonym" }, { "name": "DG[[o]]", "type": "synonym" }, { "name": "DGalpha0", "type": "synonym" }, { "name": "DGalpha[[o]]", "type": "synonym" }, { "name": "DROGPAD", "type": "synonym" }, { "name": "Dmel\\CG2204", "type": "synonym" }, { "name": "G(o)alpha47A", "type": "synonym" }, { "name": "G-alpha-47A", "type": "synonym" }, { "name": "G-oa47A", "type": "synonym" }, { "name": "G-oalpha47A", "type": "synonym" }, { "name": "G-oalpha47a", "type": "synonym" }, { "name": "G-oalpha", "type": "synonym" }, { "name": "G[[o]]alpha", "type": "synonym" }, { "name": "G[[o]]", "type": "synonym" }, { "name": "G[[oalpha]]", "type": "synonym" }, { "name": "Galpha47A", "type": "synonym" }, { "name": "Galpha[[047A]]", "type": "synonym" }, { "name": "Galpha[[0]]", "type": "synonym" }, { "name": "Galpha[[o]]47A", "type": "synonym" }, { "name": "Galpha[[o]]", "type": "synonym" }, { "name": "Galphai/o", "type": "synonym" }, { "name": "Galphao47A", "type": "synonym" }, { "name": "Galphao", "type": "synonym" }, { "name": "Go-alpha", "type": "synonym" }, { "name": "Goalpha-47A", "type": "synonym" }, { "name": "Goalpha47a", "type": "synonym" }, { "name": "Goalpha", "type": "synonym" }, { "name": "Goa", "type": "synonym" }, { "name": "Go", "type": "synonym" }, { "name": "alpha(o)", "type": "synonym" }, { "name": "bkh", "type": "synonym" }, { "name": "dGalphao", "type": "synonym" }, { "name": "dgoalpha", "type": "synonym" }, { "name": "dgo", "type": "synonym" }, { "name": "drogpad", "type": "synonym" }, { "name": "goalpha", "type": "synonym" }, { "name": "like GNAO", "type": "synonym" } ], "record_id": "P16378-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "Q9VQE0-1", "uniprot_ac": "Q9VQE0", "uniprot_id": "Q9VQE0_DROME", "refseq_ac": "NP_001259946", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "dynamin GTPase", "type": "recommended" }, { "name": "3.6.5.5", "type": "synonym" }, { "name": "CG3210-PB", "type": "synonym" }, { "name": "Drp1-PB", "type": "synonym" }, { "name": "dynamin related protein 1, isoform B", "type": "synonym" }, { "name": "dynamin related protein 1", "type": "synonym" }, { "name": "dynamin related protein-1", "type": "synonym" }, { "name": "dynamin-2", "type": "synonym" }, { "name": "dynamin-related protein 1", "type": "synonym" }, { "name": "dynamin-related protein", "type": "synonym" }, { "name": "dynaminrelated protein 1", "type": "synonym" }, { "name": "fratboy", "type": "synonym" }, { "name": "lethal(2)22Fc", "type": "synonym" }, { "name": "lethal(2)22Fd", "type": "synonym" }, { "name": "near dpp complementation group 2", "type": "synonym" }, { "name": "near dpp complementation group 3", "type": "synonym" }, { "name": "noodle", "type": "synonym" } ], "gene_names": [ { "name": "Drp1", "type": "recommended" }, { "name": "CG3210", "type": "synonym" }, { "name": "DNM1L", "type": "synonym" }, { "name": "DRP1", "type": "synonym" }, { "name": "DRP", "type": "synonym" }, { "name": "Dmel\\CG3210", "type": "synonym" }, { "name": "Dmel_CG3210", "type": "synonym" }, { "name": "Dnm1/Drp1", "type": "synonym" }, { "name": "Drp-1", "type": "synonym" }, { "name": "Drp1", "type": "synonym" }, { "name": "Drp", "type": "synonym" }, { "name": "drp-1", "type": "synonym" }, { "name": "drp1", "type": "synonym" }, { "name": "drp", "type": "synonym" }, { "name": "frat", "type": "synonym" }, { "name": "l(2)22Fc", "type": "synonym" }, { "name": "l(2)22Fd", "type": "synonym" }, { "name": "l(2)ND2", "type": "synonym" }, { "name": "l(2)ND3", "type": "synonym" } ], "record_id": "Q9VQE0-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "P17970-1", "uniprot_ac": "P17970", "uniprot_id": "KCNAB_DROME", "refseq_ac": "NP_523894", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Potassium voltage-gated channel protein Shab", "type": "recommended" }, { "name": "CG43128-PB", "type": "synonym" }, { "name": "Shab-PB", "type": "synonym" }, { "name": "shaker cognate b, isoform B", "type": "synonym" }, { "name": "shaker", "type": "synonym" } ], "gene_names": [ { "name": "Shab", "type": "recommended" }, { "name": "CG1066", "type": "synonym" }, { "name": "CG43128", "type": "synonym" }, { "name": "CG9965", "type": "synonym" }, { "name": "Dmel\\CG43128", "type": "synonym" }, { "name": "Dmel_CG43128", "type": "synonym" }, { "name": "K[[v]]2", "type": "synonym" }, { "name": "Kv2", "type": "synonym" }, { "name": "Shab", "type": "synonym" }, { "name": "dShab", "type": "synonym" }, { "name": "shab", "type": "synonym" }, { "name": "shb", "type": "synonym" } ], "record_id": "P17970-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "O16129-1", "uniprot_ac": "O16129", "uniprot_id": "SYFM_DROME", "refseq_ac": "NP_477283", "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 phenylalanine--tRNA ligase, mitochondrial", "type": "recommended" }, { "name": "6.1.1.20", "type": "synonym" }, { "name": "CG13348-PA", "type": "synonym" }, { "name": "PheRS-m-PA", "type": "synonym" }, { "name": "PheRS", "type": "synonym" }, { "name": "Phenylalanyl-tRNA synthetase, mitochondrial", "type": "synonym" }, { "name": "Phenylalanyl-tRNA synthetase", "type": "synonym" }, { "name": "mitochondrial phenylalanyl-tRNA synthetase", "type": "synonym" } ], "gene_names": [ { "name": "PheRS-m", "type": "recommended" }, { "name": "Aats-phe-m", "type": "synonym" }, { "name": "Aats-phe", "type": "synonym" }, { "name": "CG13348", "type": "synonym" }, { "name": "Dmel\\CG13348", "type": "synonym" }, { "name": "FRS", "type": "synonym" }, { "name": "PheRS-m", "type": "synonym" }, { "name": "PheRS", "type": "synonym" }, { "name": "Pts", "type": "synonym" }, { "name": "dFARS2", "type": "synonym" }, { "name": "dFARS", "type": "synonym" }, { "name": "mtPheRS", "type": "synonym" } ], "record_id": "O16129-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "P49356-1", "uniprot_ac": "P49356", "uniprot_id": "FNTB_HUMAN", "refseq_ac": "NP_001189487", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Protein farnesyltransferase subunit beta", "type": "recommended" }, { "name": "2.5.1.58", "type": "synonym" }, { "name": "CAAX farnesyltransferase subunit beta", "type": "synonym" }, { "name": "CHURC1-FNTB protein isoform 2", "type": "synonym" }, { "name": "FTase-beta", "type": "synonym" }, { "name": "Ras proteins prenyltransferase subunit beta", "type": "synonym" } ], "gene_names": [ { "name": "FNTB", "type": "recommended" }, { "name": "CHURC1-FNTB", "type": "synonym" }, { "name": "FTase-beta", "type": "synonym" } ], "record_id": "P49356-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "Q9UI46-1", "uniprot_ac": "Q9UI46", "uniprot_id": "DNAI1_HUMAN", "refseq_ac": "NP_001268357", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Dynein axonemal intermediate chain 1", "type": "recommended" }, { "name": "Axonemal dynein intermediate chain 1", "type": "synonym" }, { "name": "dynein axonemal intermediate chain 1 isoform 2", "type": "synonym" }, { "name": "dynein, axonemal, intermediate polypeptide 1", "type": "synonym" }, { "name": "immotile cilia syndrome 1", "type": "synonym" }, { "name": "testis tissue sperm-binding protein Li 87P", "type": "synonym" } ], "gene_names": [ { "name": "DNAI1", "type": "recommended" }, { "name": "CILD1", "type": "synonym" }, { "name": "DIC1", "type": "synonym" }, { "name": "DNAI1", "type": "synonym" }, { "name": "ICS1", "type": "synonym" }, { "name": "PCD", "type": "synonym" }, { "name": "oda6", "type": "synonym" } ], "record_id": "Q9UI46-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "O95363-1", "uniprot_ac": "O95363", "uniprot_id": "SYFM_HUMAN", "refseq_ac": "NP_001305801", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Phenylalanine--tRNA ligase, mitochondrial", "type": "recommended" }, { "name": "6.1.1.20", "type": "synonym" }, { "name": "PheRS", "type": "synonym" }, { "name": "Phenylalanyl-tRNA synthetase", "type": "synonym" }, { "name": "dJ236A3.1 (phenylalanine-tRNA synthetase)", "type": "synonym" }, { "name": "dJ520B18.2 (FARS1 (phenylalanine-tRNA synthetase))", "type": "synonym" }, { "name": "mitochondrial PHERS", "type": "synonym" }, { "name": "phenylalanine tRNA ligase 2, mitochondrial", "type": "synonym" }, { "name": "phenylalanine translase", "type": "synonym" }, { "name": "phenylalanine--tRNA ligase, mitochondrial isoform 1", "type": "synonym" }, { "name": "phenylalanine-tRNA synthetase 1 (mitochondrial)", "type": "synonym" } ], "gene_names": [ { "name": "FARS2", "type": "recommended" }, { "name": "COXPD14", "type": "synonym" }, { "name": "FARS1", "type": "synonym" }, { "name": "FARS2", "type": "synonym" }, { "name": "HSPC320", "type": "synonym" }, { "name": "PheRS", "type": "synonym" }, { "name": "SPG77", "type": "synonym" }, { "name": "mtPheRS", "type": "synonym" } ], "record_id": "O95363-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "P09471-1", "uniprot_ac": "P09471", "uniprot_id": "GNAO_HUMAN", "refseq_ac": "NP_066268", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Guanine nucleotide-binding protein G(o) subunit alpha", "type": "recommended" }, { "name": "3.6.5.-", "type": "synonym" }, { "name": "GO2-q chimeric G-protein", "type": "synonym" }, { "name": "guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O", "type": "synonym" }, { "name": "guanine nucleotide-binding protein G(o) subunit alpha isoform a", "type": "synonym" }, { "name": "guanine nucleotide-binding protein G(o) subunit alpha", "type": "synonym" }, { "name": "guanine nucleotide-binding regulatory protein 2", "type": "synonym" }, { "name": "heterotrimeric guanine nucleotide-binding protein 1G", "type": "synonym" } ], "gene_names": [ { "name": "GNAO1", "type": "recommended" }, { "name": "DEE17", "type": "synonym" }, { "name": "EIEE17", "type": "synonym" }, { "name": "G-ALPHA-o", "type": "synonym" }, { "name": "GNAO1", "type": "synonym" }, { "name": "GNAO", "type": "synonym" }, { "name": "HG1G", "type": "synonym" }, { "name": "NEDIM", "type": "synonym" } ], "record_id": "P09471-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "P56696-1", "uniprot_ac": "P56696", "uniprot_id": "KCNQ4_HUMAN", "refseq_ac": "NP_004691", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Potassium voltage-gated channel subfamily KQT member 4", "type": "recommended" }, { "name": "KQT-like 4", "type": "synonym" }, { "name": "Potassium channel subunit alpha KvLQT4", "type": "synonym" }, { "name": "Voltage-gated potassium channel subunit Kv7.4", "type": "synonym" }, { "name": "potassium channel 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"yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Potassium voltage-gated channel subfamily KQT member 5", "type": "recommended" }, { "name": "KQT-like 5", "type": "synonym" }, { "name": "Potassium channel subunit alpha KvLQT5", "type": "synonym" }, { "name": "Voltage-gated potassium channel subunit Kv7.5", "type": "synonym" }, { "name": "potassium channel protein", "type": "synonym" }, { "name": "potassium channel subunit alpha KvLQT5", "type": "synonym" }, { "name": "potassium channel, voltage gated KQT-like subfamily Q, member 5", "type": "synonym" }, { "name": "potassium voltage-gated channel subfamily KQT member 5 isoform 2", "type": "synonym" }, { "name": "voltage-gated potassium channel subunit Kv7.5", "type": "synonym" } ], "gene_names": [ { "name": "KCNQ5", "type": "recommended" }, { "name": "KCNQ5", "type": "synonym" }, { "name": "Kv7.5", "type": "synonym" }, { "name": "MRD46", "type": "synonym" } ], "record_id": "Q9NR82-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "O43526-1", "uniprot_ac": "O43526", "uniprot_id": "KCNQ2_HUMAN", "refseq_ac": "NP_004509", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Potassium voltage-gated channel subfamily KQT member 2", "type": "recommended" }, { "name": "KQT-like 2", "type": "synonym" }, { "name": "Neuroblastoma-specific potassium channel subunit alpha KvLQT2", "type": "synonym" }, { "name": "Voltage-gated potassium channel subunit Kv7.2", "type": "synonym" }, { "name": "neuroblastoma-specific potassium channel subunit alpha KvLQT2", "type": "synonym" }, { "name": "potassium channel, voltage gated KQT-like subfamily Q, member 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"gene_names": [ { "name": "KCNQ3", "type": "recommended" }, { "name": "BFNC2", "type": "synonym" }, { "name": "EBN2", "type": "synonym" }, { "name": "KCNQ3", "type": "synonym" }, { "name": "KV7.3", "type": "synonym" } ], "record_id": "O43525-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "Q15833-1", "uniprot_ac": "Q15833", "uniprot_id": "STXB2_HUMAN", "refseq_ac": "NP_001120868", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Syntaxin-binding protein 2", "type": "recommended" }, { "name": "Munc18-2", "type": "synonym" }, { "name": "Protein unc-18 homolog 2", "type": "synonym" }, { "name": "Protein unc-18 homolog B", "type": "synonym" }, { "name": "Unc-18B", "type": "synonym" }, { "name": "Unc18-2", "type": "synonym" }, { "name": "protein unc-18 homolog B", "type": "synonym" }, { "name": "syntaxin-binding protein 2 isoform b", "type": "synonym" } ], "gene_names": [ { "name": "STXBP2", "type": "recommended" }, { "name": "Hunc18b", "type": "synonym" }, { "name": "MUNC18-2", "type": "synonym" }, { "name": "STXBP2", "type": "synonym" }, { "name": "UNC18-2", "type": "synonym" }, { "name": "UNC18B", "type": "synonym" }, { "name": "pp10122", "type": "synonym" }, { "name": "unc-18B", "type": "synonym" } ], "record_id": "Q15833-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "P61764-1", "uniprot_ac": "P61764", "uniprot_id": "STXB1_HUMAN", "refseq_ac": "NP_001027392", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Syntaxin-binding protein 1", "type": "recommended" }, { "name": "MUNC18-1", "type": "synonym" }, { "name": "N-Sec1", "type": "synonym" }, { "name": "Protein unc-18 homolog 1", "type": "synonym" }, { "name": "Protein unc-18 homolog A", "type": "synonym" }, { "name": "Unc-18A", "type": "synonym" }, { "name": "Unc18-1", "type": "synonym" }, { "name": "neuronal SEC1", "type": "synonym" }, { "name": "p67", "type": "synonym" }, { "name": "protein unc-18 homolog 1", "type": "synonym" }, { "name": "protein unc-18 homolog A", "type": "synonym" }, { "name": "syntaxin-binding protein 1 isoform b", "type": "synonym" } ], "gene_names": [ { "name": "STXBP1", "type": "recommended" }, { "name": "DEE4", "type": "synonym" }, { "name": "MUNC18-1", "type": "synonym" }, { "name": "N-Sec1", "type": "synonym" }, { "name": "NSEC1", "type": "synonym" }, { "name": "P67", "type": "synonym" }, { "name": "RBSEC1", "type": "synonym" }, { "name": "STXBP1", "type": "synonym" }, { "name": "UNC18A", "type": "synonym" }, { "name": "UNC18", "type": "synonym" }, { "name": "unc-18A", "type": "synonym" }, { "name": "unc18-1", "type": "synonym" } ], "record_id": "P61764-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "P20591-1", "uniprot_ac": "P20591", "uniprot_id": "MX1_HUMAN", "refseq_ac": "NP_001138397", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Interferon-induced GTP-binding protein Mx1", "type": "recommended" }, { "name": "IFI-78K", "type": "synonym" }, { "name": "Interferon-induced protein p78", "type": "synonym" }, { "name": "Interferon-regulated resistance GTP-binding protein MxA", "type": "synonym" }, { "name": "Myxoma resistance protein 1", "type": "synonym" }, { "name": "Myxovirus resistance protein 1", "type": "synonym" }, { "name": "interferon-induced GTP-binding protein Mx1 isoform a", "type": "synonym" }, { "name": "interferon-induced GTP-binding protein Mx1", "type": "synonym" }, { "name": "interferon-induced protein p78", "type": "synonym" }, { "name": "interferon-regulated resistance GTP-binding protein MxA", "type": "synonym" }, { "name": "myxoma resistance protein 1", "type": "synonym" }, { "name": "myxovirus (influenza virus) resistance 1, interferon-inducible protein p78", "type": "synonym" } ], "gene_names": [ { "name": "MX1", "type": "recommended" }, { "name": "IFI-78K", "type": "synonym" }, { "name": "IFI78", "type": "synonym" }, { "name": "MX1", "type": "synonym" }, { "name": "MX", "type": "synonym" }, { "name": "MxA", "type": "synonym" }, { "name": "lncMX1-215", "type": "synonym" } ], "record_id": "P20591-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "P20592-1", "uniprot_ac": "P20592", "uniprot_id": "MX2_HUMAN", "refseq_ac": "NP_002454", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Interferon-induced GTP-binding protein Mx2", "type": "recommended" }, { "name": "Interferon-regulated resistance GTP-binding protein MxB", "type": "synonym" }, { "name": "Myxovirus resistance protein 2", "type": "synonym" }, { "name": "interferon-induced GTP-binding protein Mx2", "type": "synonym" }, { "name": "interferon-regulated resistance GTP-binding protein MXB", "type": "synonym" }, { "name": "myxovirus (influenza virus) resistance 2", "type": "synonym" }, { "name": "myxovirus resistance protein 2", "type": "synonym" }, { "name": "p78-related protein", "type": "synonym" }, { "name": "second interferon-induced protein p78", "type": "synonym" } ], "gene_names": [ { "name": "MX2", "type": "recommended" }, { "name": "MX2", "type": "synonym" }, { "name": "MXB", "type": "synonym" } ], "record_id": "P20592-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "O76039-2", "uniprot_ac": "O76039", "uniprot_id": "CDKL5_HUMAN", "refseq_ac": "NP_001032420", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Cyclin-dependent kinase-like 5", "type": "recommended" }, { "name": "2.7.11.22", "type": "synonym" }, { "name": "Serine/threonine-protein kinase 9", "type": "synonym" }, { "name": "cyclin dependent kinase 5 transcript", "type": "synonym" }, { "name": "cyclin-dependent kinase-like 5 isoform 1", "type": "synonym" }, { "name": "serine/threonine kinase 9", "type": "synonym" }, { "name": "serine/threonine-protein kinase 9", "type": "synonym" } ], "gene_names": [ { "name": "CDKL5", "type": "recommended" }, { "name": "CDKL5", "type": "synonym" }, { "name": "CFAP247", "type": "synonym" }, { "name": "DEE2", "type": "synonym" }, { "name": "EIEE2", "type": "synonym" }, { "name": "ISSX", "type": "synonym" }, { "name": "STK9", "type": "synonym" } ], "record_id": "O76039-2", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "Q14721-1", "uniprot_ac": "Q14721", "uniprot_id": "KCNB1_HUMAN", "refseq_ac": "NP_004966", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Potassium voltage-gated channel subfamily B member 1", "type": "recommended" }, { "name": "DRK1", "type": "synonym" }, { "name": "Delayed rectifier potassium channel 1", "type": "synonym" }, { "name": "Voltage-gated potassium channel subunit Kv2.1", "type": "synonym" }, { "name": "delayed rectifier potassium channel 1", "type": "synonym" }, { "name": "h-DRK1", "type": "synonym" }, { "name": "potassium voltage-gated channel subfamily B member 1", "type": "synonym" }, { "name": "potassium voltage-gated channel, Shab-related subfamily, member 1", "type": "synonym" }, { "name": "voltage-gated potassium channel subunit Kv2.1", "type": "synonym" } ], "gene_names": [ { "name": "KCNB1", "type": "recommended" }, { "name": "DEE26", "type": "synonym" }, { "name": "DRK1", "type": "synonym" }, { "name": "KCNB1", "type": "synonym" }, { "name": "Kv2.1", "type": "synonym" } ], "record_id": "Q14721-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "Q96H20-1", "uniprot_ac": "Q96H20", "uniprot_id": "SNF8_HUMAN", "refseq_ac": "NP_001304121", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Vacuolar-sorting protein SNF8", "type": "recommended" }, { "name": "EAP30 subunit of ELL complex", "type": "synonym" }, { "name": "ELL-associated protein of 30 kDa", "type": "synonym" }, { "name": "ESCRT-II complex subunit VPS22", "type": "synonym" }, { "name": "SNF8, ESCRT-II complex subunit, homolog", "type": "synonym" }, { "name": "hVps22", "type": "synonym" }, { "name": "vacuolar-sorting protein SNF8 isoform 2", "type": "synonym" }, { "name": "vacuolar-sorting protein SNF8", "type": "synonym" } ], "gene_names": [ { "name": "SNF8", "type": "recommended" }, { "name": "DEE115", "type": "synonym" }, { "name": "Dot3", "type": "synonym" }, { "name": "EAP30", "type": "synonym" }, { "name": "NEDOA", "type": "synonym" }, { "name": "SNF8", "type": "synonym" }, { "name": "VPS22", "type": "synonym" } ], "record_id": "Q96H20-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "Q7L0J3-1", "uniprot_ac": "Q7L0J3", "uniprot_id": "SV2A_HUMAN", "refseq_ac": "NP_001265648", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Synaptic vesicle glycoprotein 2A", "type": "recommended" }, { "name": "solute carrier family 22 member B1", "type": "synonym" }, { "name": "synaptic vesicle glycoprotein 2A isoform 2", "type": "synonym" } ], "gene_names": [ { "name": "SV2A", "type": "recommended" }, { "name": "DEE113", "type": "synonym" }, { "name": "KIAA0736", "type": "synonym" }, { "name": "PSEC0174", "type": "synonym" }, { "name": "SLC22B1", "type": "synonym" }, { "name": "SV2A", "type": "synonym" }, { "name": "SV2", "type": "synonym" } ], "record_id": "Q7L0J3-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "Q9H598-1", "uniprot_ac": "Q9H598", "uniprot_id": "VIAAT_HUMAN", "refseq_ac": "NP_542119", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Vesicular inhibitory amino acid transporter", "type": "recommended" }, { "name": "GABA and glycine transporter", "type": "synonym" }, { "name": "Solute carrier family 32 member 1", "type": "synonym" }, { "name": "Vesicular GABA transporter", "type": "synonym" }, { "name": "hVIAAT", "type": "synonym" }, { "name": "solute carrier family 32 (GABA vesicular transporter), member 1", "type": "synonym" }, { "name": "vesicular GABA transporter", "type": "synonym" }, { "name": "vesicular inhibitory amino acid transporter", "type": "synonym" } ], "gene_names": [ { "name": "SLC32A1", "type": "recommended" }, { "name": "DEE114", "type": "synonym" }, { "name": "GEFSP12", "type": "synonym" }, { "name": "SLC32A1", "type": "synonym" }, { "name": "VGAT", "type": "synonym" }, { "name": "VIAAT GEFSP12", "type": "synonym" }, { "name": "VIAAT", "type": "synonym" } ], "record_id": "Q9H598-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "Q8NCM2-1", "uniprot_ac": "Q8NCM2", "uniprot_id": "KCNH5_HUMAN", "refseq_ac": "NP_647479", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Voltage-gated delayed rectifier potassium channel KCNH5", "type": "recommended" }, { "name": "Ether-a-go-go potassium channel 2", "type": "synonym" }, { "name": "Potassium voltage-gated channel subfamily H member 5", "type": "synonym" }, { "name": "Voltage-gated potassium channel subunit Kv10.2", "type": "synonym" }, { "name": "ether-a-go-go 2", "type": "synonym" }, { "name": "ether-a-go-go-related potassium channel 2", "type": "synonym" }, { "name": "hEAG2", "type": "synonym" }, { "name": "potassium channel, voltage gated eag related subfamily H, member 5", "type": "synonym" }, { "name": "potassium voltage-gated channel, subfamily H (eag-related), member 5", "type": "synonym" }, { "name": "voltage-gated delayed rectifier potassium channel KCNH5 isoform 1", "type": "synonym" }, { "name": "voltage-gated delayed rectifier potassium channel KCNH5", "type": "synonym" }, { "name": "voltage-gated potassium channel subunit Kv10.2", "type": "synonym" } ], "gene_names": [ { "name": "KCNH5", "type": "recommended" }, { "name": "DEE112", "type": "synonym" }, { "name": "EAG2", "type": "synonym" }, { "name": "H-EAG2", "type": "synonym" }, { "name": "KCNH5", "type": "synonym" }, { "name": "Kv10.2", "type": "synonym" }, { "name": "hEAG2", "type": "synonym" } ], "record_id": "Q8NCM2-1", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "uniprot_canonical_ac": "O75140-10", "uniprot_ac": "O75140", "uniprot_id": "DEPD5_HUMAN", "refseq_ac": "NP_001007189", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "GATOR1 complex protein DEPDC5", "type": "recommended" }, { "name": "DEP domain-containing protein 5", "type": "synonym" }, { "name": "GATOR complex protein DEPDC5", "type": "synonym" }, { "name": "GATOR1 complex protein DEPDC5 isoform 2", "type": "synonym" }, { "name": "GATOR1 complex protein DEPDC5", "type": "synonym" } ], "gene_names": [ { "name": "DEPDC5", "type": "recommended" }, { "name": "DEE111", "type": "synonym" }, { "name": "DEP.5", "type": "synonym" }, { "name": "DEPDC5", "type": "synonym" }, { "name": "FFEVF1", "type": "synonym" }, { "name": "FFEVF", "type": "synonym" }, { "name": "FPEVF", "type": "synonym" }, { "name": "KIAA0645", "type": "synonym" } ], "record_id": "O75140-10", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0112202" }