{
    "disease_id": "DOID:0110498",
    "recommended_name": {
        "id": "DOID:0110498",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110498",
        "name": "autosomal recessive nonsyndromic deafness 4",
        "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SLC26A4 gene on chromosome 7q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110498",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110498",
            "name": "DFNB4",
            "description": ""
        },
        {
            "id": "DOID:0110498",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110498",
            "name": "autosomal recessive deafness 4 with enlarged vestibular aqueduct",
            "description": ""
        },
        {
            "id": "MONDO:0010933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010933",
            "name": "autosomal recessive nonsyndromic hearing loss 4",
            "description": "An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22. Mutation in the FOXI1 gene has been found to be a rare cause of EVA. EVA may also be rarely caused by digenic inheritance of heterozygous mutations in the SLC26A4 and FOXI1 genes, or in the SLC26A4 and KCNJ10 genes."
        },
        {
            "id": "MONDO:0010933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010933",
            "name": "enlarged vestibular aqueduct",
            "description": ""
        },
        {
            "id": "MONDO:0010933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010933",
            "name": "enlarged vestibular aqueduct, digenic",
            "description": ""
        },
        {
            "id": "MONDO:0010933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010933",
            "name": "DFNB4",
            "description": ""
        },
        {
            "id": "MONDO:0010933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010933",
            "name": "autosomal recessive deafness 4 with enlarged vestibular aqueduct",
            "description": ""
        },
        {
            "id": "MONDO:0010933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010933",
            "name": "autosomal recessive nonsyndromic deafness 4",
            "description": ""
        },
        {
            "id": "MONDO:0010933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010933",
            "name": "autosomal recessive nonsyndromic deafness type 4",
            "description": ""
        },
        {
            "id": "MONDO:0010933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010933",
            "name": "deafness, autosomal recessive 4, with enlarged vestibular aqueduct",
            "description": ""
        },
        {
            "id": "MONDO:0010933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010933",
            "name": "neurosensory nonsyndromic recessive deafness 4",
            "description": ""
        },
        {
            "id": "MIM:600791",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600791",
            "name": "Deafness, autosomal recessive, 4",
            "description": "Deafness, autosomal recessive, 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110498"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110498",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110498",
            "categories": []
        },
        {
            "id": "MONDO:0010933",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010933",
            "categories": []
        },
        {
            "id": "MIM:600791",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600791",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7FD27-1",
            "uniprot_ac": "E7FD27",
            "uniprot_id": "E7FD27_DANRE",
            "refseq_ac": "XP_003198936",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-sensitive inward rectifier potassium channel 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kcnj10a",
                    "type": "recommended"
                },
                {
                    "name": "kcnj10a",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FD27-1",
            "evidence": [
                {
                    "id": "0110498",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110498"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A3KNJ3-1",
            "uniprot_ac": "A3KNJ3",
            "uniprot_id": "FXI3A_DANRE",
            "refseq_ac": "NP_944599",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box protein I3-A",
                    "type": "recommended"
                },
                {
                    "name": "forkhead box protein I3-A",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein I3a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "foxi3a",
                    "type": "recommended"
                },
                {
                    "name": "foxi3a",
                    "type": "synonym"
                },
                {
                    "name": "foxi3",
                    "type": "synonym"
                }
            ],
            "record_id": "A3KNJ3-1",
            "evidence": [
                {
                    "id": "0110498",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110498"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7T1C0-1",
            "uniprot_ac": "Q7T1C0",
            "uniprot_id": "FXI3B_DANRE",
            "refseq_ac": "NP_944600",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box protein I3-B",
                    "type": "recommended"
                },
                {
                    "name": "forkhead box protein I3-B",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein I3b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "foxi3b",
                    "type": "recommended"
                },
                {
                    "name": "foxi3b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7T1C0-1",
            "evidence": [
                {
                    "id": "0110498",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110498"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M6Z5Y9-1",
            "uniprot_ac": "A0A8M6Z5Y9",
            "uniprot_id": "A0A8M6Z5Y9_DANRE",
            "refseq_ac": "NP_001428590",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pendrin isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "anion exchanger SLC26A4",
                    "type": "synonym"
                },
                {
                    "name": "pendrin",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 26 (anion exchanger), member 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc26a4",
                    "type": "recommended"
                },
                {
                    "name": "si:dkey-31f5.9",
                    "type": "synonym"
                },
                {
                    "name": "slc26a4",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M6Z5Y9-1",
            "evidence": [
                {
                    "id": "0110498",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110498"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JM63-1",
            "uniprot_ac": "Q9JM63",
            "uniprot_id": "KCJ10_MOUSE",
            "refseq_ac": "NP_001034573",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-sensitive inward rectifier potassium channel 10",
                    "type": "recommended"
                },
                {
                    "name": "ATP-sensitive inward rectifier potassium channel 10",
                    "type": "synonym"
                },
                {
                    "name": "Inward rectifier K(+) channel Kir4.1",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel, inwardly rectifying subfamily J member 10",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier K(+) channel Kir4.1",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, inwardly rectifying subfamily J member 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnj10",
                    "type": "recommended"
                },
                {
                    "name": "BIR10",
                    "type": "synonym"
                },
                {
                    "name": "BIRK-1",
                    "type": "synonym"
                },
                {
                    "name": "Kcnj10",
                    "type": "synonym"
                },
                {
                    "name": "Kir1.2",
                    "type": "synonym"
                },
                {
                    "name": "Kir4.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JM63-1",
            "evidence": [
                {
                    "id": "0110498",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110498"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q922I5-1",
            "uniprot_ac": "Q922I5",
            "uniprot_id": "FOXI1_MOUSE",
            "refseq_ac": "NP_076396",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box protein I1",
                    "type": "recommended"
                },
                {
                    "name": "HNF-3/forkhead homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein I1",
                    "type": "synonym"
                },
                {
                    "name": "forkhead homolog 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Foxi1",
                    "type": "recommended"
                },
                {
                    "name": "5830401E05Rik",
                    "type": "synonym"
                },
                {
                    "name": "FREAC6",
                    "type": "synonym"
                },
                {
                    "name": "Fkh10",
                    "type": "synonym"
                },
                {
                    "name": "Foxi1",
                    "type": "synonym"
                },
                {
                    "name": "HFH-3",
                    "type": "synonym"
                },
                {
                    "name": "Hfh3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q922I5-1",
            "evidence": [
                {
                    "id": "0110498",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110498"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R155-1",
            "uniprot_ac": "Q9R155",
            "uniprot_id": "S26A4_MOUSE",
            "refseq_ac": "NP_035997",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pendrin",
                    "type": "recommended"
                },
                {
                    "name": "Sodium-independent chloride/iodide transporter",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 26 member 4",
                    "type": "synonym"
                },
                {
                    "name": "pendrin",
                    "type": "synonym"
                },
                {
                    "name": "sodium-independent chloride/iodide transporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc26a4",
                    "type": "recommended"
                },
                {
                    "name": "Pds",
                    "type": "synonym"
                },
                {
                    "name": "Slc26a4",
                    "type": "synonym"
                },
                {
                    "name": "pendrin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R155-1",
            "evidence": [
                {
                    "id": "0110498",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110498"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43511-1",
            "uniprot_ac": "O43511",
            "uniprot_id": "S26A4_HUMAN",
            "refseq_ac": "NP_000432",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pendrin",
                    "type": "recommended"
                },
                {
                    "name": "Sodium-independent chloride/iodide transporter",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 26 member 4",
                    "type": "synonym"
                },
                {
                    "name": "pendrin",
                    "type": "synonym"
                },
                {
                    "name": "sodium-independent chloride/iodide transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 26 (anion exchanger), member 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC26A4",
                    "type": "recommended"
                },
                {
                    "name": "DFNB4",
                    "type": "synonym"
                },
                {
                    "name": "EVA",
                    "type": "synonym"
                },
                {
                    "name": "PDS",
                    "type": "synonym"
                },
                {
                    "name": "SLC26A4",
                    "type": "synonym"
                },
                {
                    "name": "TDH2B",
                    "type": "synonym"
                }
            ],
            "record_id": "O43511-1",
            "evidence": [
                {
                    "id": "600791",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600791"
                },
                {
                    "id": "0110498",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110498"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40466-1",
            "uniprot_ac": "P40466",
            "uniprot_id": "FKH1_YEAST",
            "refseq_ac": "NP_012135",
            "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": "Fork head protein homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "forkhead family transcription factor FKH1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FKH1",
                    "type": "recommended"
                },
                {
                    "name": "FKH1",
                    "type": "synonym"
                }
            ],
            "record_id": "P40466-1",
            "evidence": [
                {
                    "id": "0110498",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110498"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53394-1",
            "uniprot_ac": "P53394",
            "uniprot_id": "SULX_YEAST",
            "refseq_ac": "NP_015328",
            "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": "Putative sulfate transporter YPR003C",
                    "type": "recommended"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LPZ3C",
                    "type": "synonym"
                },
                {
                    "name": "YP9723.03C",
                    "type": "synonym"
                }
            ],
            "record_id": "P53394-1",
            "evidence": [
                {
                    "id": "0110498",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110498"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49655-1",
            "uniprot_ac": "P49655",
            "uniprot_id": "KCJ10_RAT",
            "refseq_ac": "NP_113790",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-sensitive inward rectifier potassium channel 10",
                    "type": "recommended"
                },
                {
                    "name": "ATP-sensitive inward rectifier potassium channel 10",
                    "type": "synonym"
                },
                {
                    "name": "ATP-sensitive inward rectifier potassium channel KAB-2",
                    "type": "synonym"
                },
                {
                    "name": "BIR10",
                    "type": "synonym"
                },
                {
                    "name": "BIRK1",
                    "type": "synonym"
                },
                {
                    "name": "Brain-specific inwardly rectifying K(+) channel 1",
                    "type": "synonym"
                },
                {
                    "name": "Inward rectifier K(+) channel Kir4.1",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel, inwardly rectifying subfamily J member 10",
                    "type": "synonym"
                },
                {
                    "name": "brain-specific inwardly rectifying K(+) channel 1",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier K(+) channel Kir4.1",
                    "type": "synonym"
                },
                {
                    "name": "kir4.1",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, inwardly rectifying subfamily J member 10",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily J member 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnj10",
                    "type": "recommended"
                },
                {
                    "name": "Kab-2",
                    "type": "synonym"
                },
                {
                    "name": "Kcnj10",
                    "type": "synonym"
                }
            ],
            "record_id": "P49655-1",
            "evidence": [
                {
                    "id": "0110498",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110498"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A7G2-1",
            "uniprot_ac": "D4A7G2",
            "uniprot_id": "D4A7G2_RAT",
            "refseq_ac": "NP_001099246",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box I1",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein I1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Foxi1",
                    "type": "recommended"
                },
                {
                    "name": "Foxi1",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A7G2-1",
            "evidence": [
                {
                    "id": "0110498",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110498"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R154-1",
            "uniprot_ac": "Q9R154",
            "uniprot_id": "S26A4_RAT",
            "refseq_ac": "NP_062087",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pendrin",
                    "type": "recommended"
                },
                {
                    "name": "Pendred syndrome homolog",
                    "type": "synonym"
                },
                {
                    "name": "Sodium-independent chloride/iodide transporter",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 26 member 4",
                    "type": "synonym"
                },
                {
                    "name": "pendrin",
                    "type": "synonym"
                },
                {
                    "name": "sodium-independent chloride/iodide transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 26 (anion exchanger), member 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc26a4",
                    "type": "recommended"
                },
                {
                    "name": "Pds",
                    "type": "synonym"
                },
                {
                    "name": "Slc26a4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R154-1",
            "evidence": [
                {
                    "id": "0110498",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110498"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B7YZX2-1",
            "uniprot_ac": "B7YZX2",
            "uniprot_id": "B7YZX2_DROME",
            "refseq_ac": "NP_001137835",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG10369-PD",
                    "type": "synonym"
                },
                {
                    "name": "Inwardly rectifying potassium channel 3, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "Irk3-PD",
                    "type": "synonym"
                },
                {
                    "name": "inwardly rectifying potassium channel 3, isoform D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Irk3",
                    "type": "recommended"
                },
                {
                    "name": "CG10369",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10369",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10369",
                    "type": "synonym"
                },
                {
                    "name": "Irk3",
                    "type": "synonym"
                },
                {
                    "name": "dIRK-3",
                    "type": "synonym"
                },
                {
                    "name": "dKirIII",
                    "type": "synonym"
                },
                {
                    "name": "irk3",
                    "type": "synonym"
                }
            ],
            "record_id": "B7YZX2-1",
            "evidence": [
                {
                    "id": "0110498",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110498"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VVM6-1",
            "uniprot_ac": "Q9VVM6",
            "uniprot_id": "Q9VVM6_DROME",
            "refseq_ac": "NP_649024",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG5485-PA",
                    "type": "synonym"
                },
                {
                    "name": "Prestin-PA",
                    "type": "synonym"
                },
                {
                    "name": "Prestin",
                    "type": "synonym"
                },
                {
                    "name": "prestin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prestin",
                    "type": "recommended"
                },
                {
                    "name": "CG5485",
                    "type": "synonym"
                },
                {
                    "name": "CG5845",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5485",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5485",
                    "type": "synonym"
                },
                {
                    "name": "Prestin",
                    "type": "synonym"
                },
                {
                    "name": "Slc26a5",
                    "type": "synonym"
                },
                {
                    "name": "dPrestin",
                    "type": "synonym"
                },
                {
                    "name": "dpres",
                    "type": "synonym"
                },
                {
                    "name": "prestin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VVM6-1",
            "evidence": [
                {
                    "id": "0110498",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110498"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60573-1",
            "uniprot_ac": "O60573",
            "uniprot_id": "IF4E2_HUMAN",
            "refseq_ac": "NP_001263265",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Eukaryotic translation initiation factor 4E type 2",
                    "type": "recommended"
                },
                {
                    "name": "Eukaryotic translation initiation factor 4E homologous protein",
                    "type": "synonym"
                },
                {
                    "name": "Eukaryotic translation initiation factor 4E-like 3",
                    "type": "synonym"
                },
                {
                    "name": "eIF-4E type 2",
                    "type": "synonym"
                },
                {
                    "name": "eIF4E type 2",
                    "type": "synonym"
                },
                {
                    "name": "eIF4E-like cap-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "eIF4E-like protein 4E-LP",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 4E homologous protein",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 4E type 2 isoform C",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 4E type 2",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 4E-like 3",
                    "type": "synonym"
                },
                {
                    "name": "h4EHP",
                    "type": "synonym"
                },
                {
                    "name": "mRNA cap-binding protein 4EHP",
                    "type": "synonym"
                },
                {
                    "name": "mRNA cap-binding protein type 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EIF4E2",
                    "type": "recommended"
                },
                {
                    "name": "4E-LP",
                    "type": "synonym"
                },
                {
                    "name": "4EHP",
                    "type": "synonym"
                },
                {
                    "name": "EIF4E2",
                    "type": "synonym"
                },
                {
                    "name": "EIF4EL3",
                    "type": "synonym"
                },
                {
                    "name": "IF4e",
                    "type": "synonym"
                },
                {
                    "name": "h4EHP",
                    "type": "synonym"
                }
            ],
            "record_id": "O60573-1",
            "evidence": [
                {
                    "id": "0110498",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110498"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12951-1",
            "uniprot_ac": "Q12951",
            "uniprot_id": "FOXI1_HUMAN",
            "refseq_ac": "NP_036320",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box protein I1",
                    "type": "recommended"
                },
                {
                    "name": "FREAC-6",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead-related protein FKHL10",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead-related transcription factor 6",
                    "type": "synonym"
                },
                {
                    "name": "HFH-3",
                    "type": "synonym"
                },
                {
                    "name": "HNF-3/fork-head homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "HNF-3/fork-head homolog-3",
                    "type": "synonym"
                },
                {
                    "name": "Hepatocyte nuclear factor 3 forkhead homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein I1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein I1",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-like 10",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-related activator 6",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-related protein FKHL10",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-related transcription factor 6",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte nuclear factor 3 forkhead homolog 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FOXI1",
                    "type": "recommended"
                },
                {
                    "name": "FKH10",
                    "type": "synonym"
                },
                {
                    "name": "FKHL10",
                    "type": "synonym"
                },
                {
                    "name": "FOXI1",
                    "type": "synonym"
                },
                {
                    "name": "FREAC-6",
                    "type": "synonym"
                },
                {
                    "name": "FREAC6",
                    "type": "synonym"
                },
                {
                    "name": "HFH-3",
                    "type": "synonym"
                },
                {
                    "name": "HFH3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12951-1",
            "evidence": [
                {
                    "id": "0110498",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110498"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P78508-1",
            "uniprot_ac": "P78508",
            "uniprot_id": "KCJ10_HUMAN",
            "refseq_ac": "NP_002232",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-sensitive inward rectifier potassium channel 10",
                    "type": "recommended"
                },
                {
                    "name": "ATP-dependent inwardly rectifying potassium channel Kir4.1",
                    "type": "synonym"
                },
                {
                    "name": "ATP-sensitive inward rectifier potassium channel 10",
                    "type": "synonym"
                },
                {
                    "name": "Inward rectifier K(+) channel Kir1.2",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel, inwardly rectifying subfamily J member 10",
                    "type": "synonym"
                },
                {
                    "name": "glial ATP-dependent inwardly rectifying potassium channel KIR4.1",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier K(+) channel Kir1.2",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier K+ channel KIR1.2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, inwardly rectifying subfamily J member 10",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily J member 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNJ10",
                    "type": "recommended"
                },
                {
                    "name": "BIRK-10",
                    "type": "synonym"
                },
                {
                    "name": "KCNJ10",
                    "type": "synonym"
                },
                {
                    "name": "KCNJ13-PEN",
                    "type": "synonym"
                },
                {
                    "name": "KIR1.2",
                    "type": "synonym"
                },
                {
                    "name": "KIR4.1",
                    "type": "synonym"
                },
                {
                    "name": "SESAME",
                    "type": "synonym"
                }
            ],
            "record_id": "P78508-1",
            "evidence": [
                {
                    "id": "0110498",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110498"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110498"
}
