{
    "disease_id": "DOID:0050548",
    "recommended_name": {
        "id": "DOID:0050548",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050548",
        "name": "hereditary sensory and autonomic neuropathy",
        "description": "A neuropathy characterized by axonal atrophy and degeneration, exclusively or predominantly affecting the sensory neurons, and variable autonomic dysfunction that has_material_basis_in an inherited mutation. Loss of pain and temperature sensation is an early and predominant, but not universal, symptom."
    },
    "synonyms": [
        {
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            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050548",
            "name": "hereditary sensory neuropathy",
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        },
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            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050548",
            "name": "HSAN",
            "description": ""
        },
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            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050548",
            "name": "HSN",
            "description": ""
        },
        {
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            "url": "https://monarchinitiative.org/disease/MONDO:0008086",
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        },
        {
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008086",
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            "description": ""
        },
        {
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            "name": "SPTLC1 hereditary sensory and autonomic neuropathy type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008086",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008086",
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            "description": ""
        },
        {
            "id": "MONDO:0008086",
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            "url": "https://monarchinitiative.org/disease/MONDO:0008086",
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            "description": ""
        },
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            "url": "https://www.omim.org/entry/162400",
            "name": "Neuropathy, hereditary sensory and autonomic, 1A",
            "description": "Neuropathy, hereditary sensory and autonomic, 1A"
        }
    ],
    "children": [
        {
            "id": "DOID:0061188",
            "label": "autosomal recessive sensory neuropathy with spastic paraplegia",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070145",
            "label": "hereditary sensory and autonomic neuropathy type 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070146",
            "label": "congenital insensitivity to pain with anhidrosis",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070149",
            "label": "hereditary sensory and autonomic neuropathy type 7",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070151",
            "label": "hereditary sensory and autonomic neuropathy type 6",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070153",
            "label": "hereditary sensory and autonomic neuropathy type 8",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070161",
            "label": "hereditary sensory and autonomic neuropathy type 2",
            "link_status": false,
            "children": [
                {
                    "id": "DOID:0070147",
                    "label": "hereditary sensory neuropathy type 2C",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0070150",
                    "label": "hereditary sensory and autonomic neuropathy type 2B",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0070155",
                    "label": "hereditary sensory and autonomic neuropathy type 2A",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:0070162",
            "label": "hereditary sensory and autonomic neuropathy type 1",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0070152",
                    "label": "hereditary sensory and autonomic neuropathy type 1A",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0070154",
                    "label": "hereditary sensory neuropathy type 1F",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0070156",
                    "label": "hereditary sensory neuropathy type 1D",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0070157",
                    "label": "hereditary sensory and autonomic neuropathy type 1C",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0070158",
                    "label": "hereditary sensory neuropathy type 1E",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:0081075",
            "label": "Marsili syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110801",
            "label": "hereditary sensory and autonomic neuropathy type 9",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:11589",
            "label": "familial dysautonomia",
            "link_status": true,
            "children": []
        }
    ],
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    ],
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            "uniprot_ac": "Q9JIH7",
            "uniprot_id": "WNK1_RAT",
            "refseq_ac": "NP_001002823",
            "glycoprotein": "yes",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase WNK1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase lysine-deficient 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase with no lysine 1",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase with no lysine 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase WNK1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wnk1",
                    "type": "recommended"
                },
                {
                    "name": "Hsn2",
                    "type": "synonym"
                },
                {
                    "name": "Prkwnk1",
                    "type": "synonym"
                },
                {
                    "name": "Wnk1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JIH7-1",
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                {
                    "id": "0050548",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050548"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A2H2-1",
            "uniprot_ac": "D4A2H2",
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            "refseq_ac": "NP_001101876",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine palmitoyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.50",
                    "type": "synonym"
                },
                {
                    "name": "LCB 1",
                    "type": "synonym"
                },
                {
                    "name": "Long chain base biosynthesis protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SPT 1",
                    "type": "synonym"
                },
                {
                    "name": "SPT1",
                    "type": "synonym"
                },
                {
                    "name": "Serine-palmitoyl-CoA transferase 1",
                    "type": "synonym"
                },
                {
                    "name": "long chain base biosynthesis protein 1",
                    "type": "synonym"
                },
                {
                    "name": "serine palmitoyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "serine palmitoyltransferase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "serine-palmitoyl-CoA transferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sptlc1",
                    "type": "recommended"
                },
                {
                    "name": "LCB 1",
                    "type": "synonym"
                },
                {
                    "name": "Lcb1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1306617",
                    "type": "synonym"
                },
                {
                    "name": "SPT 1",
                    "type": "synonym"
                },
                {
                    "name": "Spt1",
                    "type": "synonym"
                },
                {
                    "name": "Sptlc1",
                    "type": "synonym"
                },
                {
                    "name": "rCG_44191",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A2H2-1",
            "evidence": [
                {
                    "id": "0050548",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050548"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88457-1",
            "uniprot_ac": "O88457",
            "uniprot_id": "SCNBA_RAT",
            "refseq_ac": "NP_062138",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel protein type 11 subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "NaN",
                    "type": "synonym"
                },
                {
                    "name": "Sensory neuron sodium channel 2",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel protein type XI subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated sodium channel subunit alpha Nav1.9",
                    "type": "synonym"
                },
                {
                    "name": "sensory neuron sodium channel 2",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 11 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type XI subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type 11, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type XI, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type XI, alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type11, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel NAV1.9b",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel subunit alpha Nav1.9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scn11a",
                    "type": "recommended"
                },
                {
                    "name": "NaN",
                    "type": "synonym"
                },
                {
                    "name": "Nan",
                    "type": "synonym"
                },
                {
                    "name": "Scn11a",
                    "type": "synonym"
                },
                {
                    "name": "Sns2",
                    "type": "synonym"
                }
            ],
            "record_id": "O88457-1",
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                {
                    "id": "0050548",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050548"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZQD4-1",
            "uniprot_ac": "A0A8I5ZQD4",
            "uniprot_id": "A0A8I5ZQD4_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dystonin",
                    "type": "recommended"
                },
                {
                    "name": "Bullous pemphigoid antigen 1",
                    "type": "synonym"
                },
                {
                    "name": "Dystonia musculorum protein",
                    "type": "synonym"
                },
                {
                    "name": "Hemidesmosomal plaque protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dst",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I5ZQD4-1",
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                {
                    "id": "0050548",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050548"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JUX8-1",
            "uniprot_ac": "A0A0G2JUX8",
            "uniprot_id": "A0A0G2JUX8_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": "Killer cell lectin like receptor C1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Klrc1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A0G2JUX8-1",
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                {
                    "id": "0050548",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050548"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1ZAJ2-1",
            "uniprot_ac": "A1ZAJ2",
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                {
                    "name": "Drosophila melanogaster",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Kinesin-like protein unc-104",
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                },
                {
                    "name": "CG8566-PE",
                    "type": "synonym"
                },
                {
                    "name": "D uncoordinated protein 104",
                    "type": "synonym"
                },
                {
                    "name": "DUnc104",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin4B",
                    "type": "synonym"
                },
                {
                    "name": "Protein immaculate connections",
                    "type": "synonym"
                },
                {
                    "name": "bristly",
                    "type": "synonym"
                },
                {
                    "name": "immaculate connections",
                    "type": "synonym"
                },
                {
                    "name": "kinesin 3",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-3",
                    "type": "synonym"
                },
                {
                    "name": "unc-104 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "unc-104-PE",
                    "type": "synonym"
                },
                {
                    "name": "uncoordinated 104",
                    "type": "synonym"
                },
                {
                    "name": "uncoordinated-104, isoform E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "unc-104",
                    "type": "recommended"
                },
                {
                    "name": "1B",
                    "type": "synonym"
                },
                {
                    "name": "CG8566",
                    "type": "synonym"
                },
                {
                    "name": "DUNC104",
                    "type": "synonym"
                },
                {
                    "name": "DUnc-104",
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                },
                {
                    "name": "DmCG8566",
                    "type": "synonym"
                },
                {
                    "name": "DmDUnc104",
                    "type": "synonym"
                },
                {
                    "name": "DmKlp53D",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8566",
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                },
                {
                    "name": "Dmel_CG8566",
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                {
                    "name": "Dunc104",
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                },
                {
                    "name": "Imac",
                    "type": "synonym"
                },
                {
                    "name": "KIF 1B",
                    "type": "synonym"
                },
                {
                    "name": "KIF1A/1B",
                    "type": "synonym"
                },
                {
                    "name": "KIF1A",
                    "type": "synonym"
                },
                {
                    "name": "Kif1a",
                    "type": "synonym"
                },
                {
                    "name": "Klp53D",
                    "type": "synonym"
                },
                {
                    "name": "Unc-104",
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                },
                {
                    "name": "Unc104",
                    "type": "synonym"
                },
                {
                    "name": "bris",
                    "type": "synonym"
                },
                {
                    "name": "imac",
                    "type": "synonym"
                },
                {
                    "name": "kif1a",
                    "type": "synonym"
                },
                {
                    "name": "unc-104",
                    "type": "synonym"
                },
                {
                    "name": "unc104",
                    "type": "synonym"
                }
            ],
            "record_id": "A1ZAJ2-1",
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                {
                    "id": "0050548",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050548"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PGC5-1",
            "uniprot_ac": "M9PGC5",
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                {
                    "name": "Drosophila melanogaster",
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                    "glygen_name": "Fruit fly",
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                }
            ],
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                {
                    "name": "Serine/threonine-protein kinase Wnk",
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                    "name": "2.7.11.1",
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                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "Protein kinase with no lysine",
                    "type": "synonym"
                },
                {
                    "name": "WNK homolog",
                    "type": "synonym"
                },
                {
                    "name": "WNK kinase",
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                },
                {
                    "name": "Wnk kinase, isoform N",
                    "type": "synonym"
                },
                {
                    "name": "Wnk-PN",
                    "type": "synonym"
                },
                {
                    "name": "with No lysine kinase",
                    "type": "synonym"
                },
                {
                    "name": "with-no-lysine kinase",
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                }
            ],
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                    "name": "Wnk",
                    "type": "recommended"
                },
                {
                    "name": "CG7177",
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                },
                {
                    "name": "DWNK",
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                },
                {
                    "name": "DmWNK",
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                },
                {
                    "name": "Dmel\\CG7177",
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                },
                {
                    "name": "WNK",
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                },
                {
                    "name": "Wnk",
                    "type": "synonym"
                },
                {
                    "name": "cg7177",
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                },
                {
                    "name": "dWNK",
                    "type": "synonym"
                },
                {
                    "name": "dWnk",
                    "type": "synonym"
                },
                {
                    "name": "wnk",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050548",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050548"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VK69-1",
            "uniprot_ac": "Q9VK69",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-complex protein 1 subunit delta",
                    "type": "recommended"
                },
                {
                    "name": "CCT4-PA",
                    "type": "synonym"
                },
                {
                    "name": "CG5525-PA",
                    "type": "synonym"
                },
                {
                    "name": "chaperonin containing TCP1 subunit 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CCT4",
                    "type": "recommended"
                },
                {
                    "name": "CCT4",
                    "type": "synonym"
                },
                {
                    "name": "CG5525",
                    "type": "synonym"
                },
                {
                    "name": "Cct4",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5525",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5525",
                    "type": "synonym"
                },
                {
                    "name": "Q9VK69_DROME",
                    "type": "synonym"
                },
                {
                    "name": "TCP-1",
                    "type": "synonym"
                },
                {
                    "name": "TCP1-delta",
                    "type": "synonym"
                },
                {
                    "name": "Tcp-1delta",
                    "type": "synonym"
                },
                {
                    "name": "Tcp1-delta",
                    "type": "synonym"
                },
                {
                    "name": "cct4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VK69-1",
            "evidence": [
                {
                    "id": "0050548",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050548"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35500-1",
            "uniprot_ac": "P35500",
            "uniprot_id": "SCNA_DROME",
            "refseq_ac": "NP_001036280",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel protein para",
                    "type": "recommended"
                },
                {
                    "name": "CG9907-PB",
                    "type": "synonym"
                },
                {
                    "name": "DmNav1",
                    "type": "synonym"
                },
                {
                    "name": "Out cold",
                    "type": "synonym"
                },
                {
                    "name": "Out-cold",
                    "type": "synonym"
                },
                {
                    "name": "Protein paralytic",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel 1",
                    "type": "synonym"
                },
                {
                    "name": "bang senseless",
                    "type": "synonym"
                },
                {
                    "name": "bang sensitive",
                    "type": "synonym"
                },
                {
                    "name": "bang-senseless",
                    "type": "synonym"
                },
                {
                    "name": "bangsenseless",
                    "type": "synonym"
                },
                {
                    "name": "para-PB",
                    "type": "synonym"
                },
                {
                    "name": "paralytic, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "paralytic",
                    "type": "synonym"
                },
                {
                    "name": "paralyzed",
                    "type": "synonym"
                },
                {
                    "name": "shudderer",
                    "type": "synonym"
                },
                {
                    "name": "smell-blind",
                    "type": "synonym"
                },
                {
                    "name": "smellblind",
                    "type": "synonym"
                },
                {
                    "name": "voltage gated sodium ion channel",
                    "type": "synonym"
                },
                {
                    "name": "voltage-sensitive sodium channel",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "para",
                    "type": "recommended"
                },
                {
                    "name": "CG9907",
                    "type": "synonym"
                },
                {
                    "name": "DmNa[[V]]",
                    "type": "synonym"
                },
                {
                    "name": "DmNa[[v]]1",
                    "type": "synonym"
                },
                {
                    "name": "DmNa[[v]]",
                    "type": "synonym"
                },
                {
                    "name": "DmNav1",
                    "type": "synonym"
                },
                {
                    "name": "DmNav",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9907",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9907",
                    "type": "synonym"
                },
                {
                    "name": "Nav1",
                    "type": "synonym"
                },
                {
                    "name": "Ocd",
                    "type": "synonym"
                },
                {
                    "name": "Para",
                    "type": "synonym"
                },
                {
                    "name": "Scn1alpha",
                    "type": "synonym"
                },
                {
                    "name": "Shudderer",
                    "type": "synonym"
                },
                {
                    "name": "Shu",
                    "type": "synonym"
                },
                {
                    "name": "VSSC",
                    "type": "synonym"
                },
                {
                    "name": "bas",
                    "type": "synonym"
                },
                {
                    "name": "bss",
                    "type": "synonym"
                },
                {
                    "name": "l(1)14Da",
                    "type": "synonym"
                },
                {
                    "name": "l(1)ESHS48",
                    "type": "synonym"
                },
                {
                    "name": "lincRNA.S9469",
                    "type": "synonym"
                },
                {
                    "name": "olfD",
                    "type": "synonym"
                },
                {
                    "name": "para13-5",
                    "type": "synonym"
                },
                {
                    "name": "para",
                    "type": "synonym"
                },
                {
                    "name": "par",
                    "type": "synonym"
                },
                {
                    "name": "sbl-1",
                    "type": "synonym"
                },
                {
                    "name": "sbl",
                    "type": "synonym"
                }
            ],
            "record_id": "P35500-1",
            "evidence": [
                {
                    "id": "0050548",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050548"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z9J3-1",
            "uniprot_ac": "A1Z9J3",
            "uniprot_id": "A1Z9J3_DROME",
            "refseq_ac": "NP_725339",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG18076-PH",
                    "type": "synonym"
                },
                {
                    "name": "Short stop, isoform H",
                    "type": "synonym"
                },
                {
                    "name": "enhancer of NA9 2-12",
                    "type": "synonym"
                },
                {
                    "name": "groovin",
                    "type": "synonym"
                },
                {
                    "name": "kakapoo",
                    "type": "synonym"
                },
                {
                    "name": "kakapo",
                    "type": "synonym"
                },
                {
                    "name": "kopupu",
                    "type": "synonym"
                },
                {
                    "name": "short stop, isoform H",
                    "type": "synonym"
                },
                {
                    "name": "short stop",
                    "type": "synonym"
                },
                {
                    "name": "short-stop",
                    "type": "synonym"
                },
                {
                    "name": "shortshop",
                    "type": "synonym"
                },
                {
                    "name": "shortstop",
                    "type": "synonym"
                },
                {
                    "name": "shot-PH",
                    "type": "synonym"
                },
                {
                    "name": "spectraplakin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "shot",
                    "type": "recommended"
                },
                {
                    "name": "42/4",
                    "type": "synonym"
                },
                {
                    "name": "4",
                    "type": "synonym"
                },
                {
                    "name": "CG18076",
                    "type": "synonym"
                },
                {
                    "name": "CG18637",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18076",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG18076",
                    "type": "synonym"
                },
                {
                    "name": "EN2-12",
                    "type": "synonym"
                },
                {
                    "name": "Grv",
                    "type": "synonym"
                },
                {
                    "name": "Kak",
                    "type": "synonym"
                },
                {
                    "name": "Shot",
                    "type": "synonym"
                },
                {
                    "name": "Su(Mir)1",
                    "type": "synonym"
                },
                {
                    "name": "grv",
                    "type": "synonym"
                },
                {
                    "name": "kakapo",
                    "type": "synonym"
                },
                {
                    "name": "kakp",
                    "type": "synonym"
                },
                {
                    "name": "kak",
                    "type": "synonym"
                },
                {
                    "name": "kop",
                    "type": "synonym"
                },
                {
                    "name": "l(2)CA4",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k03010",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k04204",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k05434",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k05821",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k10821",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k15606",
                    "type": "synonym"
                },
                {
                    "name": "shortstop/kakapo",
                    "type": "synonym"
                },
                {
                    "name": "shot",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050548",
                    "database": "AGR",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50991-1",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "T-complex protein 1 subunit delta",
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                {
                    "name": "3.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "CCT-delta",
                    "type": "synonym"
                },
                {
                    "name": "Chaperonin containing T-complex polypeptide 1 subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "Stimulator of TAR RNA-binding",
                    "type": "synonym"
                },
                {
                    "name": "T-complex protein 1 subunit delta isoform b",
                    "type": "synonym"
                },
                {
                    "name": "T-complex protein 1 subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "TCP-1-delta",
                    "type": "synonym"
                },
                {
                    "name": "chaperonin containing T-complex polypeptide 1 subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "chaperonin containing TCP1, subunit 4 (delta)",
                    "type": "synonym"
                },
                {
                    "name": "chaperonin containing t-complex polypeptide 1, delta subunit",
                    "type": "synonym"
                },
                {
                    "name": "stimulator of TAR RNA-binding",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "CCT4",
                    "type": "recommended"
                },
                {
                    "name": "CCT-DELTA",
                    "type": "synonym"
                },
                {
                    "name": "CCT4",
                    "type": "synonym"
                },
                {
                    "name": "CCTD",
                    "type": "synonym"
                },
                {
                    "name": "Cctd",
                    "type": "synonym"
                },
                {
                    "name": "SRB",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050548",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050548"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UI33-1",
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                {
                    "name": "Homo sapiens",
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                    "common_name": "Human",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Sodium channel protein type 11 subunit alpha",
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                },
                {
                    "name": "PN5",
                    "type": "synonym"
                },
                {
                    "name": "Peripheral nerve sodium channel 5",
                    "type": "synonym"
                },
                {
                    "name": "Sensory neuron sodium channel 2",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel protein type XI subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated sodium channel subunit alpha Nav1.9",
                    "type": "synonym"
                },
                {
                    "name": "hNaN",
                    "type": "synonym"
                },
                {
                    "name": "peripheral nerve sodium channel 5",
                    "type": "synonym"
                },
                {
                    "name": "sensory neuron sodium channel 2",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 11 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type XI subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type XI, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type XI, alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type XII, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel subunit alpha Nav1.9",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "SCN11A",
                    "type": "recommended"
                },
                {
                    "name": "FEPS3",
                    "type": "synonym"
                },
                {
                    "name": "HSAN7",
                    "type": "synonym"
                },
                {
                    "name": "NAV1.9",
                    "type": "synonym"
                },
                {
                    "name": "NaN",
                    "type": "synonym"
                },
                {
                    "name": "PN5",
                    "type": "synonym"
                },
                {
                    "name": "SCN11A",
                    "type": "synonym"
                },
                {
                    "name": "SCN12A",
                    "type": "synonym"
                },
                {
                    "name": "SNS-2",
                    "type": "synonym"
                },
                {
                    "name": "SNS2",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050548",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050548"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03001-7",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dystonin",
                    "type": "recommended"
                },
                {
                    "name": "230 kDa bullous pemphigoid antigen",
                    "type": "synonym"
                },
                {
                    "name": "230/240 kDa bullous pemphigoid antigen",
                    "type": "synonym"
                },
                {
                    "name": "BPA",
                    "type": "synonym"
                },
                {
                    "name": "Bullous pemphigoid antigen 1",
                    "type": "synonym"
                },
                {
                    "name": "Bullous pemphigoid antigen",
                    "type": "synonym"
                },
                {
                    "name": "Dystonia musculorum protein",
                    "type": "synonym"
                },
                {
                    "name": "Hemidesmosomal plaque protein",
                    "type": "synonym"
                },
                {
                    "name": "bullous pemphigoid antigen 1",
                    "type": "synonym"
                },
                {
                    "name": "bullous pemphigoid antigen",
                    "type": "synonym"
                },
                {
                    "name": "dystonia musculorum protein",
                    "type": "synonym"
                },
                {
                    "name": "dystonin isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "hemidesmosomal plaque protein",
                    "type": "synonym"
                },
                {
                    "name": "trabeculin-beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DST",
                    "type": "recommended"
                },
                {
                    "name": "BP230",
                    "type": "synonym"
                },
                {
                    "name": "BP240",
                    "type": "synonym"
                },
                {
                    "name": "BPAG1",
                    "type": "synonym"
                },
                {
                    "name": "BPA",
                    "type": "synonym"
                },
                {
                    "name": "CATX-15",
                    "type": "synonym"
                },
                {
                    "name": "CATX15",
                    "type": "synonym"
                },
                {
                    "name": "CMYO29",
                    "type": "synonym"
                },
                {
                    "name": "D6S1101",
                    "type": "synonym"
                },
                {
                    "name": "DMH",
                    "type": "synonym"
                },
                {
                    "name": "DST",
                    "type": "synonym"
                },
                {
                    "name": "DT",
                    "type": "synonym"
                },
                {
                    "name": "EBS3",
                    "type": "synonym"
                },
                {
                    "name": "EBSB2",
                    "type": "synonym"
                },
                {
                    "name": "HSAN6",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0728",
                    "type": "synonym"
                },
                {
                    "name": "LCCS12",
                    "type": "synonym"
                },
                {
                    "name": "MACF2",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050548",
                    "database": "AGR",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04629-1",
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                    "name": "Homo sapiens",
                    "taxid": 9606,
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "High affinity nerve growth factor receptor",
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                    "name": "2.7.10.1",
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                },
                {
                    "name": "Neurotrophic tyrosine kinase receptor type 1",
                    "type": "synonym"
                },
                {
                    "name": "Oncogene TRK",
                    "type": "synonym"
                },
                {
                    "name": "TRK1-transforming tyrosine kinase protein",
                    "type": "synonym"
                },
                {
                    "name": "Trk-A",
                    "type": "synonym"
                },
                {
                    "name": "Tropomyosin-related kinase A",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine kinase receptor A",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine kinase receptor",
                    "type": "synonym"
                },
                {
                    "name": "gp140trk",
                    "type": "synonym"
                },
                {
                    "name": "high affinity nerve growth factor receptor isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "high affinity nerve growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "neurotrophic tyrosine kinase, receptor, type 1",
                    "type": "synonym"
                },
                {
                    "name": "p140-TrkA",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin receptor kinase A",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin-related kinase A",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine kinase receptor A",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "NTRK1",
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                },
                {
                    "name": "MTC",
                    "type": "synonym"
                },
                {
                    "name": "NTRK1",
                    "type": "synonym"
                },
                {
                    "name": "TRK1",
                    "type": "synonym"
                },
                {
                    "name": "TRKA",
                    "type": "synonym"
                },
                {
                    "name": "TRK",
                    "type": "synonym"
                },
                {
                    "name": "Trk-A",
                    "type": "synonym"
                },
                {
                    "name": "p140-TrkA",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050548",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050548"
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            ]
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            "uniprot_canonical_ac": "Q9H4A3-1",
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                    "name": "Homo sapiens",
                    "taxid": 9606,
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                }
            ],
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                    "name": "Serine/threonine-protein kinase WNK1",
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                    "name": "2.7.11.1",
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                },
                {
                    "name": "Erythrocyte 65 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "Kinase deficient protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase lysine-deficient 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase with no lysine 1",
                    "type": "synonym"
                },
                {
                    "name": "erythrocyte 65 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "hWNK1",
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                },
                {
                    "name": "p65",
                    "type": "synonym"
                },
                {
                    "name": "prostate-derived sterile 20-like kinase",
                    "type": "synonym"
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                {
                    "name": "protein kinase with no lysine 1",
                    "type": "synonym"
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                {
                    "name": "protein phosphatase 1, regulatory subunit 167",
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                },
                {
                    "name": "serine/threonine-protein kinase WNK1 1",
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                },
                {
                    "name": "serine/threonine-protein kinase WNK1 2",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase WNK1 isoform 4",
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                    "name": "WNK1",
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                {
                    "name": "HSAN2",
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                },
                {
                    "name": "HSN2",
                    "type": "synonym"
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                {
                    "name": "KDP",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0344",
                    "type": "synonym"
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                {
                    "name": "PPP1R167",
                    "type": "synonym"
                },
                {
                    "name": "PRKWNK1",
                    "type": "synonym"
                },
                {
                    "name": "PSK",
                    "type": "synonym"
                },
                {
                    "name": "WNK1",
                    "type": "synonym"
                },
                {
                    "name": "p65",
                    "type": "synonym"
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            ],
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                    "id": "0050548",
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            ]
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Kinesin-like protein KIF1A",
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                {
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                {
                    "name": "Axonal transporter of synaptic vesicles",
                    "type": "synonym"
                },
                {
                    "name": "Microtubule-based motor KIF1A",
                    "type": "synonym"
                },
                {
                    "name": "Unc-104- and KIF1A-related protein",
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                },
                {
                    "name": "axonal transporter of synaptic vesicles",
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                {
                    "name": "hUnc-104",
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                {
                    "name": "kinesin, heavy chain, member 1A, homolog of mouse",
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                },
                {
                    "name": "kinesin-like protein KIF1A isoform 1",
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                {
                    "name": "kinesin-like protein KIF1A",
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                },
                {
                    "name": "microtubule-based motor KIF1A",
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                },
                {
                    "name": "unc-104- and KIF1A-related protein",
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                }
            ],
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                    "name": "KIF1A",
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                    "name": "ATSV",
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                {
                    "name": "C2orf20",
                    "type": "synonym"
                },
                {
                    "name": "HSN2C",
                    "type": "synonym"
                },
                {
                    "name": "KIF1A",
                    "type": "synonym"
                },
                {
                    "name": "MRD9",
                    "type": "synonym"
                },
                {
                    "name": "NESCAVS",
                    "type": "synonym"
                },
                {
                    "name": "SPG30A",
                    "type": "synonym"
                },
                {
                    "name": "SPG30B",
                    "type": "synonym"
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                {
                    "name": "SPG30",
                    "type": "synonym"
                },
                {
                    "name": "UNC104",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050548",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050548"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26358-1",
            "uniprot_ac": "P26358",
            "uniprot_id": "DNMT1_HUMAN",
            "refseq_ac": "NP_001124295",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA (cytosine-5)-methyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.37",
                    "type": "synonym"
                },
                {
                    "name": "CXXC-type zinc finger protein 9",
                    "type": "synonym"
                },
                {
                    "name": "DNA (cytosine-5)-methyltransferase 1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "DNA (cytosine-5-)-methyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA MTase HsaI",
                    "type": "synonym"
                },
                {
                    "name": "DNA methyltransferase HsaI",
                    "type": "synonym"
                },
                {
                    "name": "Dnmt1",
                    "type": "synonym"
                },
                {
                    "name": "M.HsaI",
                    "type": "synonym"
                },
                {
                    "name": "MCMT",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNMT1",
                    "type": "recommended"
                },
                {
                    "name": "ADCADN",
                    "type": "synonym"
                },
                {
                    "name": "AIM",
                    "type": "synonym"
                },
                {
                    "name": "CXXC9",
                    "type": "synonym"
                },
                {
                    "name": "DNMT1",
                    "type": "synonym"
                },
                {
                    "name": "DNMT",
                    "type": "synonym"
                },
                {
                    "name": "HSN1E",
                    "type": "synonym"
                },
                {
                    "name": "MCMT",
                    "type": "synonym"
                },
                {
                    "name": "m.HsaI",
                    "type": "synonym"
                }
            ],
            "record_id": "P26358-1",
            "evidence": [
                {
                    "id": "0050548",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050548"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050548"
}