{
    "uniprot_canonical_ac": "A0A0B4K651-1",
    "uniprot_ac": "A0A0B4K651",
    "uniprot_id": "A0A0B4K651_DROME",
    "mass": {
        "chemical_mass": 86177.0,
        "monoisotopic_mass": 86177.0
    },
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        "ac": "NP_652603",
        "name": "bestrophin 1, isoform A",
        "summary": "",
        "url": "https://www.ncbi.nlm.nih.gov/protein/NP_652603"
    },
    "gene_names": [
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            "id": "A0A0B4K651"
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        {
            "name": "Best1",
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            "id": "NP_001247018"
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        {
            "name": "CG6264",
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            "type": "synonym",
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            "id": "A0A0B4K651"
        },
        {
            "name": "Dbest",
            "resource": "UniProtKB",
            "type": "synonym",
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            "id": "A0A0B4K651"
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        {
            "name": "Dmel\\CG6264",
            "resource": "UniProtKB",
            "type": "synonym",
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            "id": "A0A0B4K651"
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        {
            "name": "Dmel_CG6264",
            "resource": "UniProtKB",
            "type": "synonym",
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            "id": "A0A0B4K651"
        },
        {
            "name": "anon-WO0118547.380; best; CG6264; Dbest; dbest1; dBest1; dmBest1; Dmel\\CG6264",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001247018",
            "id": "NP_001247018"
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        {
            "name": "anon-WO0118547.380",
            "resource": "UniProtKB",
            "type": "synonym",
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            "id": "A0A0B4K651"
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        {
            "name": "best",
            "resource": "UniProtKB",
            "type": "synonym",
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            "id": "A0A0B4K651"
        },
        {
            "name": "dBest1",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "https://www.uniprot.org/uniprot/A0A0B4K651",
            "id": "A0A0B4K651"
        },
        {
            "name": "dbest1",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "https://www.uniprot.org/uniprot/A0A0B4K651",
            "id": "A0A0B4K651"
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        {
            "name": "dmBest1",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "https://www.uniprot.org/uniprot/A0A0B4K651",
            "id": "A0A0B4K651"
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    ],
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        {
            "name": "Bestrophin 1, isoform C",
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            "type": "synonym",
            "url": "",
            "id": "A0A0B4K651"
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        {
            "name": "CG6264-PA; Best1-PA",
            "resource": "RefSeq",
            "type": "synonym",
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            "id": "NP_652603"
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        {
            "name": "CG6264-PB; Best1-PB",
            "resource": "RefSeq",
            "type": "synonym",
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            "id": "NP_001138033"
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        {
            "name": "CG6264-PC; Best1-PC",
            "resource": "RefSeq",
            "type": "synonym",
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            "id": "NP_001247018"
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        {
            "name": "CG6264-PD; Best1-PD",
            "resource": "RefSeq",
            "type": "synonym",
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            "id": "NP_001262452"
        },
        {
            "name": "bestrophin 1, isoform A",
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            "type": "synonym",
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            "id": "NP_652603"
        },
        {
            "name": "bestrophin 1, isoform B",
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            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138033",
            "id": "NP_001138033"
        },
        {
            "name": "bestrophin 1, isoform C",
            "resource": "RefSeq",
            "type": "synonym",
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            "id": "NP_001247018"
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        {
            "name": "bestrophin 1, isoform D",
            "resource": "RefSeq",
            "type": "synonym",
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            "id": "NP_001262452"
        }
    ],
    "function": [
        {
            "annotation": "Forms chloride channels.",
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                {
                    "database": "UniProtKB",
                    "id": "Q9V3J6",
                    "url": "https://www.uniprot.org/uniprot/Q9V3J6#function"
                },
                {
                    "database": "UniProtKB",
                    "id": "RU363126",
                    "url": "https://www.uniprot.org/uniprot/RU363126#function"
                },
                {
                    "database": "UniProtKB",
                    "id": "A0A0B4KGQ2",
                    "url": "https://www.uniprot.org/uniprot/A0A0B4KGQ2#function"
                }
            ]
        }
    ],
    "disease": [
        {
            "disease_id": "DOID:0050661",
            "recommended_name": {
                "id": "DOID:0050661",
                "resource": "Disease Ontology",
                "url": "http://disease-ontology.org/term/DOID:0050661",
                "name": "vitelliform macular dystrophy",
                "description": "A macular degeneration that it is characterized by the disruption of cells in a small area near the center of the retina, the macula and may cause progressive vision loss."
            },
            "synonyms": [
                {
                    "id": "DOID:0050661",
                    "resource": "Disease Ontology",
                    "url": "http://disease-ontology.org/term/DOID:0050661",
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                    "description": ""
                },
                {
                    "id": "DOID:0050661",
                    "resource": "Disease Ontology",
                    "url": "http://disease-ontology.org/term/DOID:0050661",
                    "name": "Best macular dystrophy",
                    "description": ""
                },
                {
                    "id": "DOID:0050661",
                    "resource": "Disease Ontology",
                    "url": "http://disease-ontology.org/term/DOID:0050661",
                    "name": "juvenile-onset vitelliform macular dystrophy",
                    "description": ""
                },
                {
                    "id": "MONDO:0014508",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014508",
                    "name": "vitelliform macular dystrophy 4",
                    "description": "Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG1 gene."
                },
                {
                    "id": "MONDO:0014508",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014508",
                    "name": "IMPG1 vitelliform macular dystrophy",
                    "description": ""
                },
                {
                    "id": "MONDO:0014508",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014508",
                    "name": "macular dystrophy, vitelliform, 4",
                    "description": ""
                },
                {
                    "id": "MONDO:0014508",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014508",
                    "name": "macular dystrophy, vitelliform, type 4",
                    "description": ""
                },
                {
                    "id": "MONDO:0014508",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014508",
                    "name": "vitelliform macular dystrophy caused by mutation in IMPG1",
                    "description": ""
                },
                {
                    "id": "MONDO:0014508",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014508",
                    "name": "VMD4",
                    "description": ""
                },
                {
                    "id": "MONDO:0007933",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007933",
                    "name": "vitelliform macular dystrophy 1",
                    "description": ""
                },
                {
                    "id": "MONDO:0007933",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007933",
                    "name": "VMD1",
                    "description": ""
                },
                {
                    "id": "MONDO:0007933",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007933",
                    "name": "macular dystrophy, atypical vitelliform",
                    "description": ""
                },
                {
                    "id": "MONDO:0007933",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007933",
                    "name": "macular dystrophy, vitelliform, 1",
                    "description": ""
                },
                {
                    "id": "MONDO:0007933",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007933",
                    "name": "vitelliform macular dystrophy, atypical",
                    "description": ""
                },
                {
                    "id": "MONDO:0007931",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007931",
                    "name": "vitelliform macular dystrophy 2",
                    "description": "Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region."
                },
                {
                    "id": "MONDO:0007931",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007931",
                    "name": "BEST1 retinopathy",
                    "description": ""
                },
                {
                    "id": "MONDO:0007931",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007931",
                    "name": "BMD",
                    "description": ""
                },
                {
                    "id": "MONDO:0007931",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007931",
                    "name": "BVMD",
                    "description": ""
                },
                {
                    "id": "MONDO:0007931",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007931",
                    "name": "Best disease",
                    "description": ""
                },
                {
                    "id": "MONDO:0007931",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007931",
                    "name": "Best macular dystrophy",
                    "description": ""
                },
                {
                    "id": "MONDO:0007931",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007931",
                    "name": "early-onset vitelliform macular dystrophy",
                    "description": ""
                },
                {
                    "id": "MONDO:0007931",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007931",
                    "name": "juvenile-onset vitelliform macular dystrophy",
                    "description": ""
                },
                {
                    "id": "MONDO:0007931",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007931",
                    "name": "macular degeneration, polymorphic vitelline",
                    "description": ""
                },
                {
                    "id": "MONDO:0007931",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007931",
                    "name": "macular dystrophy, vitelliform, type 2",
                    "description": ""
                },
                {
                    "id": "MONDO:0007931",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007931",
                    "name": "polymorphic vitelline macular degeneration",
                    "description": ""
                },
                {
                    "id": "MONDO:0007931",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007931",
                    "name": "vitelliform macular dystrophy type 2",
                    "description": ""
                },
                {
                    "id": "MONDO:0007931",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007931",
                    "name": "vitelliform macular dystrophy, early-onset",
                    "description": ""
                },
                {
                    "id": "MONDO:0007931",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007931",
                    "name": "vitelliform macular dystrophy, juvenile-onset",
                    "description": ""
                },
                {
                    "id": "MONDO:0007931",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007931",
                    "name": "vitelliform macular dystrophy, type 2",
                    "description": ""
                },
                {
                    "id": "MONDO:0007931",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007931",
                    "name": "Best vitelliform macular dystrophy, multifocal",
                    "description": ""
                },
                {
                    "id": "MONDO:0007931",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007931",
                    "name": "VMD2",
                    "description": ""
                },
                {
                    "id": "MONDO:0007931",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007931",
                    "name": "macular Degeneration, polymorphic vitelline",
                    "description": ""
                },
                {
                    "id": "MONDO:0007931",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007931",
                    "name": "macular dystrophy, vitelliform, 2",
                    "description": ""
                },
                {
                    "id": "MONDO:0024561",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0024561",
                    "name": "vitelliform macular dystrophy 3",
                    "description": "Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene."
                },
                {
                    "id": "MONDO:0024561",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0024561",
                    "name": "PRPH2 vitelliform macular dystrophy",
                    "description": ""
                },
                {
                    "id": "MONDO:0024561",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0024561",
                    "name": "vitelliform macular dystrophy caused by mutation in PRPH2",
                    "description": ""
                },
                {
                    "id": "MONDO:0024561",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0024561",
                    "name": "VMD3",
                    "description": ""
                },
                {
                    "id": "MONDO:0024561",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0024561",
                    "name": "foveomacular dystrophy, adult-onset",
                    "description": ""
                },
                {
                    "id": "MONDO:0024561",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0024561",
                    "name": "foveomacular dystrophy, adult-onset, with or without choroidal neovascularization",
                    "description": ""
                },
                {
                    "id": "MONDO:0024561",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0024561",
                    "name": "macular dystrophy, vitelliform, 3",
                    "description": ""
                },
                {
                    "id": "MONDO:0024561",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0024561",
                    "name": "vitelliform macular dystrophy, adult-onset",
                    "description": ""
                },
                {
                    "id": "MONDO:0014509",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014509",
                    "name": "vitelliform macular dystrophy 5",
                    "description": "Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG2 gene."
                },
                {
                    "id": "MONDO:0014509",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014509",
                    "name": "IMPG2 vitelliform macular dystrophy",
                    "description": ""
                },
                {
                    "id": "MONDO:0014509",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014509",
                    "name": "macular dystrophy, vitelliform, 5",
                    "description": ""
                },
                {
                    "id": "MONDO:0014509",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014509",
                    "name": "macular dystrophy, vitelliform, type 5",
                    "description": ""
                },
                {
                    "id": "MONDO:0014509",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014509",
                    "name": "vitelliform macular dystrophy caused by mutation in IMPG2",
                    "description": ""
                },
                {
                    "id": "MONDO:0014509",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014509",
                    "name": "VMD5",
                    "description": ""
                },
                {
                    "id": "MIM:616151",
                    "resource": "MIM",
                    "url": "https://www.omim.org/entry/616151",
                    "name": "Macular dystrophy, vitelliform, 4",
                    "description": "Macular dystrophy, vitelliform, 4"
                },
                {
                    "id": "MIM:153700",
                    "resource": "MIM",
                    "url": "https://www.omim.org/entry/153700",
                    "name": "Macular dystrophy, vitelliform, 2",
                    "description": "Macular dystrophy, vitelliform, 2"
                },
                {
                    "id": "MIM:608161",
                    "resource": "MIM",
                    "url": "https://www.omim.org/entry/608161",
                    "name": "Macular dystrophy, vitelliform, 3",
                    "description": "Macular dystrophy, vitelliform, 3"
                },
                {
                    "id": "MIM:616152",
                    "resource": "MIM",
                    "url": "https://www.omim.org/entry/616152",
                    "name": "Macular dystrophy, vitelliform, 5",
                    "description": "Macular dystrophy, vitelliform, 5"
                }
            ],
            "evidence": [
                {
                    "id": "0050661",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050661"
                }
            ]
        },
        {
            "disease_id": "DOID:0050662",
            "recommended_name": {
                "id": "DOID:0050662",
                "resource": "Disease Ontology",
                "url": "http://disease-ontology.org/term/DOID:0050662",
                "name": "bestrophinopathy",
                "description": "A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the BEST1 gene on chromosome 11q12."
            },
            "synonyms": [
                {
                    "id": "DOID:0050662",
                    "resource": "Disease Ontology",
                    "url": "http://disease-ontology.org/term/DOID:0050662",
                    "name": "autosomal recessive bestrophinopathy",
                    "description": ""
                },
                {
                    "id": "MONDO:0012733",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0012733",
                    "name": "autosomal recessive bestrophinopathy",
                    "description": "Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG)."
                },
                {
                    "id": "MONDO:0012733",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0012733",
                    "name": "bestrophinopathy",
                    "description": ""
                },
                {
                    "id": "MONDO:0012733",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0012733",
                    "name": "retinopathy, Burgess-Black type",
                    "description": ""
                },
                {
                    "id": "MONDO:0012733",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0012733",
                    "name": "ARB",
                    "description": ""
                },
                {
                    "id": "MONDO:0012733",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0012733",
                    "name": "bestrophinopathy, autosomal recessive",
                    "description": ""
                },
                {
                    "id": "MIM:611809",
                    "resource": "MIM",
                    "url": "https://www.omim.org/entry/611809",
                    "name": "Bestrophinopathy, autosomal recessive",
                    "description": "Bestrophinopathy, autosomal recessive"
                }
            ],
            "evidence": [
                {
                    "id": "0050662",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050662"
                }
            ]
        },
        {
            "disease_id": "DOID:0110396",
            "recommended_name": {
                "id": "DOID:0110396",
                "resource": "Disease Ontology",
                "url": "http://disease-ontology.org/term/DOID:0110396",
                "name": "retinitis pigmentosa 50",
                "description": "A retinitis pigmentosa that has_material_basis_in mutation in the BEST1 gene on chromosome 11q13."
            },
            "synonyms": [
                {
                    "id": "DOID:0110396",
                    "resource": "Disease Ontology",
                    "url": "http://disease-ontology.org/term/DOID:0110396",
                    "name": "RP50",
                    "description": ""
                },
                {
                    "id": "MONDO:0013175",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013175",
                    "name": "retinitis pigmentosa 50",
                    "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene."
                },
                {
                    "id": "MONDO:0013175",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013175",
                    "name": "BEST1 retinitis pigmentosa",
                    "description": ""
                },
                {
                    "id": "MONDO:0013175",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013175",
                    "name": "RP50",
                    "description": ""
                },
                {
                    "id": "MONDO:0013175",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013175",
                    "name": "retinitis pigmentosa 50",
                    "description": ""
                },
                {
                    "id": "MONDO:0013175",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013175",
                    "name": "retinitis pigmentosa caused by mutation in BEST1",
                    "description": ""
                },
                {
                    "id": "MONDO:0013175",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013175",
                    "name": "retinitis pigmentosa type 50",
                    "description": ""
                },
                {
                    "id": "MONDO:0013175",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013175",
                    "name": "retinitis pigmentosa-50",
                    "description": ""
                },
                {
                    "id": "MONDO:0013175",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013175",
                    "name": "retinitis pigmentosa, concentric",
                    "description": ""
                },
                {
                    "id": "MIM:613194",
                    "resource": "MIM",
                    "url": "https://www.omim.org/entry/613194",
                    "name": "Retinitis pigmentosa 50",
                    "description": "Retinitis pigmentosa 50"
                }
            ],
            "evidence": [
                {
                    "id": "0110396",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110396"
                }
            ]
        },
        {
            "disease_id": "DOID:0111569",
            "recommended_name": {
                "id": "DOID:0111569",
                "resource": "Disease Ontology",
                "url": "http://disease-ontology.org/term/DOID:0111569",
                "name": "autosomal dominant vitreoretinochoroidopathy",
                "description": "A hereditary retinal dystrophy characterized by abnormal chorioretinal hypopigmentation and hyperpigmentation typically lying between the vortex veins and the ora serrata for 360 degrees and other ocular developmental anomalies that has_material_basis_in heterozygous mutation in the BEST1 gene on chromosome 11q12.3."
            },
            "synonyms": [
                {
                    "id": "DOID:0111569",
                    "resource": "Disease Ontology",
                    "url": "http://disease-ontology.org/term/DOID:0111569",
                    "name": "ADVIRC",
                    "description": ""
                },
                {
                    "id": "DOID:0111569",
                    "resource": "Disease Ontology",
                    "url": "http://disease-ontology.org/term/DOID:0111569",
                    "name": "VRCP autosomal dominant",
                    "description": ""
                },
                {
                    "id": "DOID:0111569",
                    "resource": "Disease Ontology",
                    "url": "http://disease-ontology.org/term/DOID:0111569",
                    "name": "vitreoretinochoroidopathy dominant",
                    "description": ""
                },
                {
                    "id": "DOID:0111569",
                    "resource": "Disease Ontology",
                    "url": "http://disease-ontology.org/term/DOID:0111569",
                    "name": "vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos",
                    "description": ""
                },
                {
                    "id": "DOID:0111569",
                    "resource": "Disease Ontology",
                    "url": "http://disease-ontology.org/term/DOID:0111569",
                    "name": "vitreoretinochoroidopathy with microcornea, glaucoma, and cataract",
                    "description": ""
                },
                {
                    "id": "MONDO:0008662",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0008662",
                    "name": "autosomal dominant vitreoretinochoroidopathy",
                    "description": "Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees."
                },
                {
                    "id": "MONDO:0008662",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0008662",
                    "name": "ADVIRC",
                    "description": ""
                },
                {
                    "id": "MONDO:0008662",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0008662",
                    "name": "VRCP",
                    "description": ""
                },
                {
                    "id": "MONDO:0008662",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0008662",
                    "name": "VRCP autosomal dominant",
                    "description": ""
                },
                {
                    "id": "MONDO:0008662",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0008662",
                    "name": "microcornea, Rod-cone dystrophy, cataract, and posterior staphyloma",
                    "description": ""
                },
                {
                    "id": "MONDO:0008662",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0008662",
                    "name": "vitreoretinochoroidopathy",
                    "description": ""
                },
                {
                    "id": "MONDO:0008662",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0008662",
                    "name": "vitreoretinochoroidopathy dominant",
                    "description": ""
                },
                {
                    "id": "MONDO:0008662",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0008662",
                    "name": "vitreoretinochoroidopathy with microcornea, glaucoma, and cataract",
                    "description": ""
                },
                {
                    "id": "MONDO:0008662",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0008662",
                    "name": "vitreoretinochoroidopathy, autosomal dominant",
                    "description": ""
                },
                {
                    "id": "MONDO:0008662",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0008662",
                    "name": "vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos",
                    "description": ""
                },
                {
                    "id": "MIM:193220",
                    "resource": "MIM",
                    "url": "https://www.omim.org/entry/193220",
                    "name": "Vitreoretinochoroidopathy",
                    "description": "Vitreoretinochoroidopathy"
                }
            ],
            "evidence": [
                {
                    "id": "0111569",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111569"
                }
            ]
        },
        {
            "disease_id": "DOID:4448",
            "recommended_name": {
                "id": "DOID:4448",
                "resource": "Disease Ontology",
                "url": "http://disease-ontology.org/term/DOID:4448",
                "name": "macular degeneration",
                "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss."
            },
            "synonyms": [
                {
                    "id": "DOID:4448",
                    "resource": "Disease Ontology",
                    "url": "http://disease-ontology.org/term/DOID:4448",
                    "name": "Macular degeneration of retina",
                    "description": ""
                }
            ],
            "evidence": [
                {
                    "id": "4448",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:4448"
                }
            ]
        }
    ],
    "snv": [],
    "mutagenesis": [],
    "expression_tissue": [],
    "expression_disease": [],
    "species": [
        {
            "name": "Drosophila melanogaster",
            "taxid": 7227,
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "A0A0B4K651",
                    "url": "https://www.uniprot.org/uniprot/A0A0B4K651"
                }
            ],
            "common_name": "Fruit fly"
        }
    ],
    "gene": [
        {
            "name": "Best1",
            "url": "https://www.uniprot.org/uniprot/A0A0B4K651",
            "locus": {
                "chromosome": "3R",
                "start_pos": 10161464,
                "end_pos": 10170487,
                "strand": "+",
                "evidence": [
                    {
                        "database": "Ensembl Gene",
                        "id": "FBgn0040238",
                        "url": "https://www.ensembl.org/id/FBgn0040238"
                    }
                ]
            }
        }
    ],
    "crossref": [
        {
            "id": "FBgn0040238",
            "url": "https://bgee.org/?page=gene&gene_id=FBgn0040238",
            "database": "Bgee",
            "categories": [
                "Gene Expression"
            ]
        },
        {
            "id": "FBgn0040238",
            "url": "https://flybase.org/reports/FBgn0040238",
            "database": "FlyBase",
            "categories": [
                "Organism-specific"
            ]
        },
        {
            "id": "53431",
            "url": "https://www.ncbi.nlm.nih.gov/gene/53431",
            "database": "GeneID",
            "categories": [
                "Genome Annotation"
            ]
        },
        {
            "id": "B7Z0U6",
            "url": "https://www.ebi.ac.uk/intact/interactors/id:B7Z0U6*",
            "database": "IntAct",
            "categories": [
                "Other"
            ]
        },
        {
            "id": "IPR000615",
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR000615",
            "database": "InterPro",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "IPR021134",
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR021134",
            "database": "InterPro",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "dme:Dmel_CG6264",
            "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG6264",
            "database": "KEGG Pathway",
            "categories": [
                "Enzyme and Pathway"
            ]
        },
        {
            "id": "SVTYDFP",
            "url": "https://omabrowser.org/oma/group/SVTYDFP/",
            "database": "OMA",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "2871698at2759",
            "url": "http://www.orthodb.org/?query=2871698at2759",
            "database": "OrthoDB",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "PTHR10736",
            "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10736",
            "database": "PANTHER",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "PTHR10736:SF65",
            "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10736:SF65",
            "database": "PANTHER",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "PF01062",
            "url": "http://pfam.xfam.org/family/PF01062",
            "database": "Pfam",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "R-DME-2672351",
            "url": "https://www.reactome.org/PathwayBrowser/#R-DME-2672351",
            "database": "Reactome",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "NP_001247018",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001247018",
            "database": "RefSeq",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "A0A0B4K651",
            "url": "https://www.uniprot.org/uniprot/A0A0B4K651",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "A0A0B4K651-1",
            "url": "https://www.uniprot.org/uniprot/A0A0B4K651-1",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "A0A0B4KGQ2",
            "url": "https://www.uniprot.org/uniprot/A0A0B4KGQ2",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "A0A0B4KGQ2-1",
            "url": "https://www.uniprot.org/uniprot/A0A0B4KGQ2-1",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "B7Z0U6",
            "url": "https://www.uniprot.org/uniprot/B7Z0U6",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "B7Z0U6-1",
            "url": "https://www.uniprot.org/uniprot/B7Z0U6-1",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "Q9V3J6",
            "url": "https://www.uniprot.org/uniprot/Q9V3J6",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "Q9V3J6-1",
            "url": "https://www.uniprot.org/uniprot/Q9V3J6-1",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        }
    ],
    "sequence": {
        "sequence": "MTITYTGEVATCRGFGCFLKLLLRWRGSIYKLVWLDLLAFLTIYYAINMVYRFGLNPAQKETFEAIVQYCDSYRELIPLSFVLGFYVSIVMTRWWNQYTSIPWPDPIAVFVSSNVHGQDERGRMMRRTIMRYVCLCLTMVLANVSPRVKKRFPGLNNLVEAGLLNDNEKTIIETMNKAFPRPSKHWLPIVWAASIITRARKEGRIRDDFAVKTIIDELNKFRGQCGLLISYDTISVPLVYTQVVTLAVYSYFLTCCMGQQWTDGKVVGNTTYLNKVDLYFPVFTTLQFFFYMGWLKVAESLINPFGEDDDDFEVNWMVDRNLQVSYLIVDEMHHDHPELLKDQYWDEVFPNELPYTIAAERFRENHPEPSTAKIEVPKNAAMPSTMSSVRIDEMVGNANGDPAAAADAKAPNPVTGQVQVPGADTGVQTVTYDFPKGSPDEEADDASGIHFSAGNGKMRLDSSPSLVSVSGTLSRVNTVASALKRFLSRDDSRPGSATPSQDQPYKFPASASSASLSGAVVGSATSAGKPAGSLRITQQVIEEVDEQATITSMRANDPRPNVMDIFAQTSSGAGTSGPLQPPPAHSEPVDIPSRPPSYNRAQSQYEPNLFPPGGVDALLSTSAPAGGSPLLLSNAATAPSSPVGESSKSLYDPQKGASRETERPDAPQVFRWFVTPVESMDLRSSTDLLGDAAVQPEDEGDDFDKLKAEREKEKLMRQQKNLARTISTAPGMEATAVPMVPMVPVNVAVQQAQLQPVASSADLLAGGDQFSNSTMKSEDAINGS",
        "length": 784,
        "header": "tr|A0A0B4K651-1|A0A0B4K651_DROME Isoform 1 of Bestrophin 1, isoform C  OS=Drosophila melanogaster OX=7227 GN=Best1 PE=1 SV=1 CANONICAL=A0A0B4K651-1"
    },
    "isoforms": [
        {
            "isoform_ac": "A0A0B4K651-1",
            "url": "",
            "sequence": {
                "sequence": "MTITYTGEVATCRGFGCFLKLLLRWRGSIYKLVWLDLLAFLTIYYAINMVYRFGLNPAQKETFEAIVQYCDSYRELIPLSFVLGFYVSIVMTRWWNQYTSIPWPDPIAVFVSSNVHGQDERGRMMRRTIMRYVCLCLTMVLANVSPRVKKRFPGLNNLVEAGLLNDNEKTIIETMNKAFPRPSKHWLPIVWAASIITRARKEGRIRDDFAVKTIIDELNKFRGQCGLLISYDTISVPLVYTQVVTLAVYSYFLTCCMGQQWTDGKVVGNTTYLNKVDLYFPVFTTLQFFFYMGWLKVAESLINPFGEDDDDFEVNWMVDRNLQVSYLIVDEMHHDHPELLKDQYWDEVFPNELPYTIAAERFRENHPEPSTAKIEVPKNAAMPSTMSSVRIDEMVGNANGDPAAAADAKAPNPVTGQVQVPGADTGVQTVTYDFPKGSPDEEADDASGIHFSAGNGKMRLDSSPSLVSVSGTLSRVNTVASALKRFLSRDDSRPGSATPSQDQPYKFPASASSASLSGAVVGSATSAGKPAGSLRITQQVIEEVDEQATITSMRANDPRPNVMDIFAQTSSGAGTSGPLQPPPAHSEPVDIPSRPPSYNRAQSQYEPNLFPPGGVDALLSTSAPAGGSPLLLSNAATAPSSPVGESSKSLYDPQKGASRETERPDAPQVFRWFVTPVESMDLRSSTDLLGDAAVQPEDEGDDFDKLKAEREKEKLMRQQKNLARTISTAPGMEATAVPMVPMVPVNVAVQQAQLQPVASSADLLAGGDQFSNSTMKSEDAINGS",
                "length": 784,
                "header": "tr|A0A0B4K651-1|A0A0B4K651_DROME Isoform 1 of Bestrophin 1, isoform C  OS=Drosophila melanogaster OX=7227 GN=Best1 PE=1 SV=1 CANONICAL=A0A0B4K651-1"
            },
            "locus": {
                "chromosome": "3R",
                "start_pos": 10167319,
                "end_pos": 10161988,
                "strand": "+",
                "evidence": [
                    {
                        "database": "Ensembl Transcript",
                        "id": "FBtr0306023",
                        "url": "https://www.ensembl.org/id/FBtr0306023"
                    },
                    {
                        "database": "Ensembl Peptide",
                        "id": "FBpp0297165",
                        "url": "https://www.ensembl.org/id/FBpp0297165"
                    }
                ]
            }
        },
        {
            "isoform_ac": "A0A0B4KGQ2-1",
            "url": "",
            "sequence": {
                "sequence": "MTITYTGEVATCRGFGCFLKLLLRWRGSIYKLVWLDLLAFLTIYYAINMVYRFGLNPAQKETFEAIVQYCDSYRELIPLSFVLGFYVSIVMTRWWNQYTSIPWPDPIAVFVSSNVHGQDERGRMMRRTIMRYVCLCLTMVLANVSPRVKKRFPGLNNLVEAGLLNDNEKTIIETMNKAFPRPSKHWLPIVWAASIITRARKEGRIRDDFAVKTIIDELNKFRGQCGLLISYDTISVPLVYTQVVTLAVYSYFLTCCMGQQWTDGKVVGNTTYLNKVDLYFPVFTTLQFFFYMGWLKVAESLINPFGEDDDDFEVNWMVDRNLQVSYLIVDEMHHDHPELLKDQYWDEVFPNELPYTIAAERFRENHPEPSTAKIEVPKNAAMPSTMSSVRIDEMADDASGIHFSAGNGKMRLDSSPSLVSVSGTLSRVNTVASALKRFLSRDDSRPGSATPSQDQPYKFPASASSASLSGAVVGSATSAGKPAGSLRITQQVIEEVDEQATITSMRANDPRPNVMDIFAQTSSGAGTSGPLQPPPAHSEPVDIPSRPPSYNRAQSQYEPNLFPPGGVDALLSTSAPAGGSPLLLSNAATAPSSPVGESSKSLYDPQKGASRETERPDAPQVFRWFVTPVESMDLRSSTDLLGDAAVQPEDEGDDFDKLKAEREKEKLMRQQKNLARTISTAPGMEATAVPMVPMVPVNVAVQQAQLQPVASSADLLAGGDQFSNSTMKSEDAINGS",
                "length": 736,
                "header": "tr|A0A0B4KGQ2-1|A0A0B4KGQ2_DROME Computationally mapped isoform of Bestrophin homolog  OS=Drosophila melanogaster OX=7227 GN=Best1 PE=3 SV=1 CANONICAL=A0A0B4K651-1"
            },
            "locus": {
                "chromosome": "3R",
                "start_pos": 10167319,
                "end_pos": 10161988,
                "strand": "+",
                "evidence": [
                    {
                        "database": "Ensembl Transcript",
                        "id": "FBtr0337020",
                        "url": "https://www.ensembl.org/id/FBtr0337020"
                    },
                    {
                        "database": "Ensembl Peptide",
                        "id": "FBpp0307949",
                        "url": "https://www.ensembl.org/id/FBpp0307949"
                    }
                ]
            }
        },
        {
            "isoform_ac": "B7Z0U6-1",
            "url": "",
            "sequence": {
                "sequence": "MTITYTGEVATCRGFGCFLKLLLRWRGSIYKLVWLDLLAFLTIYYAINMVYRFGLNPAQKETFEAIVQYCDSYRELIPLSFVLGFYVSIVMTRWWNQYTSIPWPDPIAVFVSSNVHGQDERGRMMRRTIMRYVCLCLTMVLANVSPRVKKRFPGLNNLVEAGLLNDNEKTIIETMNKAFPRPSKHWLPIVWAASIITRARKEGRIRDDFAVKTIIDELNKFRGQCGLLISYDTISVPLVYTQVVTLAVYSYFLTCCMGQQWTDGKVVGNTTYLNKVDLYFPVFTTLQFFFYMGWLKVAESLINPFGEDDDDFEVNWMVDRNLQVSYLIVDEMHHDHPELLKDQYWDEVFPNELPYTIAAERFRENHPEPSTAKIEVPKNAAMPSTMSSVRIDEMVGNANGDPAAAADAKAPNPVTGQVQVPGADTGVQTVTYDFPKGSPDEEADDASGIHFSAGNGKMRLDSSPSLVSVSGTLSRVNTVASALKRFLSRDDSRPGSATPSQDQPYKFPASASSASLSGAVVGSATSAGKPAGSLRITQQVIEEVDEQATITSMRANDPRPNVMDIFAQTSSGAGTSGPLQPPPAHSEPVDIPSRPPSYNRAQSQYEPNLFPPGGVDALLSTSAPAGGSPLLLSNAATAPSSPVGESSKSLYDPQKGASRETVESMDLRSSTDLLGDAAVQPEDEGDDFDKLKAEREKEKLMRQQKNLARTISTAPGMEATAVPMVPMVPVNVAVQQAQLQPVASSADLLAGGDQFSNSTMKSEDAINGS",
                "length": 769,
                "header": "tr|B7Z0U6-1|B7Z0U6_DROME Computationally mapped isoform of Bestrophin 1, isoform B  OS=Drosophila melanogaster OX=7227 GN=Best1 PE=1 SV=1 CANONICAL=A0A0B4K651-1"
            },
            "locus": {
                "chromosome": "3R",
                "start_pos": 10167319,
                "end_pos": 10161988,
                "strand": "+",
                "evidence": [
                    {
                        "database": "Ensembl Transcript",
                        "id": "FBtr0114590",
                        "url": "https://www.ensembl.org/id/FBtr0114590"
                    },
                    {
                        "database": "Ensembl Peptide",
                        "id": "FBpp0113082",
                        "url": "https://www.ensembl.org/id/FBpp0113082"
                    }
                ]
            }
        },
        {
            "isoform_ac": "Q9V3J6-1",
            "url": "",
            "sequence": {
                "sequence": "MTITYTGEVATCRGFGCFLKLLLRWRGSIYKLVWLDLLAFLTIYYAINMVYRFGLNPAQKETFEAIVQYCDSYRELIPLSFVLGFYVSIVMTRWWNQYTSIPWPDPIAVFVSSNVHGQDERGRMMRRTIMRYVCLCLTMVLANVSPRVKKRFPGLNNLVEAGLLNDNEKTIIETMNKAFPRPSKHWLPIVWAASIITRARKEGRIRDDFAVKTIIDELNKFRGQCGLLISYDTISVPLVYTQVVTLAVYSYFLTCCMGQQWTDGKVVGNTTYLNKVDLYFPVFTTLQFFFYMGWLKVAESLINPFGEDDDDFEVNWMVDRNLQVSYLIVDEMHHDHPELLKDQYWDEVFPNELPYTIAAERFRENHPEPSTAKIEVPKNAAMPSTMSSVRIDEMADDASGIHFSAGNGKMRLDSSPSLVSVSGTLSRVNTVASALKRFLSRDDSRPGSATPSQDQPYKFPASASSASLSGAVVGSATSAGKPAGSLRITQQVIEEVDEQATITSMRANDPRPNVMDIFAQTSSGAGTSGPLQPPPAHSEPVDIPSRPPSYNRAQSQYEPNLFPPGGVDALLSTSAPAGGSPLLLSNAATAPSSPVGESSKSLYDPQKGASRETVESMDLRSSTDLLGDAAVQPEDEGDDFDKLKAEREKEKLMRQQKNLARTISTAPGMEATAVPMVPMVPVNVAVQQAQLQPVASSADLLAGGDQFSNSTMKSEDAINGS",
                "length": 721,
                "header": "tr|Q9V3J6-1|Q9V3J6_DROME Computationally mapped isoform of Bestrophin homolog  OS=Drosophila melanogaster OX=7227 GN=Best1 PE=2 SV=1 CANONICAL=A0A0B4K651-1"
            },
            "locus": {
                "chromosome": "3R",
                "start_pos": 10167319,
                "end_pos": 10161988,
                "strand": "+",
                "evidence": [
                    {
                        "database": "Ensembl Transcript",
                        "id": "FBtr0082183",
                        "url": "https://www.ensembl.org/id/FBtr0082183"
                    },
                    {
                        "database": "Ensembl Peptide",
                        "id": "FBpp0081661",
                        "url": "https://www.ensembl.org/id/FBpp0081661"
                    }
                ]
            }
        }
    ],
    "glycosylation": [],
    "phosphorylation": [],
    "glycation": [],
    "keywords": [],
    "publication": [],
    "pathway": [
        {
            "id": "dme:Dmel_CG6264",
            "name": "",
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