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"categories": [] }, { "id": "MIM:604403", "database": "MIM", "url": "https://www.omim.org/entry/604403", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "A0A8M9Q653-1", "uniprot_ac": "A0A8M9Q653", "uniprot_id": "A0A8M9Q653_DANRE", "refseq_ac": "XP_021332559", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Sodium channel protein", "type": "recommended" }, { "name": "sodium channel, voltage-gated, type I like, alpha b isoform X2", "type": "synonym" } ], "gene_names": [ { "name": "scn1lab", "type": "recommended" }, { "name": "scn1lab", "type": "synonym" } ], "record_id": "A0A8M9Q653-1", "evidence": [ { "id": "0111294", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111294" } ] }, { "uniprot_canonical_ac": "A0ACD6B7I9-1", "uniprot_ac": "A0ACD6B7I9", "uniprot_id": "A0ACD6B7I9_DANRE", 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"url": "https://www.alliancegenome.org/disease/DOID:0111294" } ] }, { "uniprot_canonical_ac": "P15390-1", "uniprot_ac": "P15390", "uniprot_id": "SCN4A_RAT", "refseq_ac": "NP_037310", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Sodium channel protein type 4 subunit alpha", "type": "recommended" }, { "name": "Mu-1", "type": "synonym" }, { "name": "SkM1", "type": "synonym" }, { "name": "Sodium channel protein skeletal muscle subunit alpha", "type": "synonym" }, { "name": "Sodium channel protein type IV subunit alpha", "type": "synonym" }, { "name": "Sodium channel voltage-gated type IV alpha polypeptide", "type": "synonym" }, { "name": "Voltage-gated sodium channel subunit alpha Nav1.4", "type": "synonym" }, { "name": "mu-1", "type": "synonym" }, { "name": "skM1", "type": "synonym" }, { "name": "sodium channel protein 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"reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Sodium channel protein type 5 subunit alpha", "type": "recommended" }, { "name": "Sodium channel protein cardiac muscle subunit alpha", "type": "synonym" }, { "name": "Sodium channel protein type V subunit alpha", "type": "synonym" }, { "name": "Voltage-gated sodium channel subunit alpha Nav1.5", "type": "synonym" }, { "name": "cardiac tetrodotoxin-insensitive voltage-dependent sodium channel alpha subunit", "type": "synonym" }, { "name": "hH1", "type": "synonym" }, { "name": "sodium channel protein cardiac muscle subunit alpha", "type": "synonym" }, { "name": "sodium channel protein type 5 subunit alpha isoform e", "type": "synonym" }, { "name": "sodium channel protein type 5 subunit alpha", "type": "synonym" }, { "name": "sodium channel, voltage-gated, type V, alpha subunit", "type": "synonym" }, { "name": "voltage-gated sodium channel subunit alpha Nav1.5", "type": "synonym" } ], "gene_names": [ { "name": 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"glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Sodium channel protein type 8 subunit alpha", "type": "recommended" }, { "name": "Sodium channel protein type VIII subunit alpha", "type": "synonym" }, { "name": "Voltage-gated sodium channel subunit alpha Nav1.6", "type": "synonym" }, { "name": "hNa6/Scn8a voltage-gated sodium channel", "type": "synonym" }, { "name": "sodium channel protein type 8 subunit alpha isoform 2", "type": "synonym" }, { "name": "sodium channel protein type 8 subunit alpha", "type": "synonym" }, { "name": "sodium channel, voltage gated, type VIII, alpha subunit", "type": "synonym" }, { "name": "voltage-gated sodium channel subunit alpha Nav1.6", "type": "synonym" }, { "name": "voltage-gated sodium channel type VIII alpha protein", "type": "synonym" } ], "gene_names": [ { "name": "SCN8A", "type": "recommended" }, { "name": "BFIS5", "type": "synonym" }, { "name": "CERIII", "type": "synonym" }, { "name": "CIAT", 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"glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Sodium channel protein type 10 subunit alpha", "type": "recommended" }, { "name": "PN3", "type": "synonym" }, { "name": "Peripheral nerve sodium channel 3", "type": "synonym" }, { "name": "Sodium channel protein type X subunit alpha", "type": "synonym" }, { "name": "Voltage-gated sodium channel subunit alpha Nav1.8", "type": "synonym" }, { "name": "hPN3", "type": "synonym" }, { "name": "peripheral nerve sodium channel 3", "type": "synonym" }, { "name": "sensory neuron sodium channel", "type": "synonym" }, { "name": "sodium channel protein type 10 subunit alpha isoform 2", "type": "synonym" }, { "name": "sodium channel protein type 10 subunit alpha", "type": "synonym" }, { "name": "sodium channel protein type X subunit alpha", "type": "synonym" }, { "name": "sodium channel, voltage-gated, type X, alpha polypeptide", "type": "synonym" }, { "name": "sodium channel, voltage-gated, type X, alpha subunit", "type": "synonym" }, { "name": "voltage-gated sodium channel subunit alpha Nav1.8", "type": "synonym" } ], "gene_names": [ { "name": "SCN10A", "type": "recommended" }, { "name": "FEPS2", "type": "synonym" }, { "name": "Nav1.8", "type": "synonym" }, { "name": "PN3", "type": "synonym" }, { "name": "SCN10A", "type": "synonym" }, { "name": "SNS", "type": "synonym" } ], "record_id": "Q9Y5Y9-1", "evidence": [ { "id": "0111294", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111294" } ] }, { "uniprot_canonical_ac": "Q01118-1", "uniprot_ac": "Q01118", "uniprot_id": "SCN7A_HUMAN", "refseq_ac": "NP_002967", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Sodium channel protein type 7 subunit alpha", "type": "recommended" }, { "name": "Atypical sodium channel Nav2.1", "type": "synonym" }, { "name": "Nax channel", "type": "synonym" }, { "name": "Sodium channel protein type VII subunit alpha", "type": "synonym" }, { "name": "atypical sodium channel Nav2.1", "type": "synonym" }, { "name": "nax channel", "type": "synonym" }, { "name": "putative voltage-gated sodium channel subunit alpha Nax", "type": "synonym" }, { "name": "sodium channel protein cardiac and skeletal muscle subunit alpha", "type": "synonym" }, { "name": "sodium channel protein type 7 subunit alpha", "type": "synonym" }, { "name": "sodium channel protein type VII subunit alpha", "type": "synonym" }, { "name": "sodium channel, voltage-gated, type VI, alpha polypeptide", "type": "synonym" }, { "name": "sodium channel, voltage-gated, type VII, alpha subunit", "type": "synonym" }, { "name": "voltage-dependent sodium channel alpha subunit", "type": "synonym" } ], "gene_names": [ { "name": "SCN7A", "type": "recommended" }, { "name": "NaG", "type": "synonym" }, { "name": "Nav2.1", "type": "synonym" }, { "name": "Nav2.2", "type": "synonym" }, { "name": "SCN6A", "type": "synonym" }, { "name": "SCN7A", "type": "synonym" } ], "record_id": "Q01118-1", "evidence": [ { "id": "0111294", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111294" } ] }, { "uniprot_canonical_ac": "P35499-1", "uniprot_ac": "P35499", "uniprot_id": "SCN4A_HUMAN", "refseq_ac": "NP_000325", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Sodium channel protein type 4 subunit alpha", "type": "recommended" }, { "name": "CTC-264K15.6", "type": "synonym" }, { "name": "SkM1", "type": "synonym" }, { "name": "Sodium channel protein skeletal muscle subunit alpha", "type": "synonym" }, { "name": "Sodium channel protein type IV subunit alpha", "type": "synonym" }, { "name": "Voltage-gated sodium channel subunit alpha Nav1.4", "type": "synonym" }, { "name": "skeletal muscle sodium channel alpha subunit", "type": "synonym" }, { "name": "skeletal muscle voltage-dependent sodium channel type IV alpha subunit", "type": "synonym" }, { "name": "sodium channel protein skeletal muscle subunit alpha", "type": "synonym" }, { "name": "sodium channel protein type 4 subunit alpha", "type": "synonym" }, { "name": "sodium channel protein type IV subunit alpha", "type": "synonym" }, { "name": "sodium channel, voltage-gated, type IV, alpha subunit", "type": "synonym" }, { "name": "voltage-gated sodium channel subunit alpha Nav1.4", "type": "synonym" } ], "gene_names": [ { "name": "SCN4A", "type": "recommended" }, { "name": "CMS16", "type": "synonym" }, { "name": "CMYO22A", "type": "synonym" }, { "name": "CMYP22A", "type": "synonym" }, { "name": "HOKPP2", "type": "synonym" }, { "name": "HYKPP", "type": "synonym" }, { "name": "HYPP", "type": "synonym" }, { "name": "NAC1A", "type": "synonym" }, { "name": "Na(V)1.4", "type": "synonym" }, { "name": "Nav1.4", "type": "synonym" }, { "name": "SCN4A", "type": "synonym" }, { "name": "SkM1", "type": "synonym" } ], "record_id": "P35499-1", "evidence": [ { "id": "0111294", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111294" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0111294" }