{
    "disease_id": "DOID:0050632",
    "recommended_name": {
        "id": "DOID:0050632",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050632",
        "name": "oculocutaneous albinism",
        "description": "A syndrome characterized by abnormal pigmentation of the skin, hair and eyes."
    },
    "synonyms": [
        {
            "id": "MONDO:0008745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008745",
            "name": "oculocutaneous albinism type 1A",
            "description": "Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves."
        },
        {
            "id": "MONDO:0008745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008745",
            "name": "OCA1A",
            "description": ""
        },
        {
            "id": "MONDO:0008745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008745",
            "name": "TYR oculocutaneous albinism",
            "description": ""
        },
        {
            "id": "MONDO:0008745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008745",
            "name": "Tyr oculocutaneous albinism",
            "description": ""
        },
        {
            "id": "MONDO:0008745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008745",
            "name": "oculocutaneous albinism caused by mutation in TYR",
            "description": ""
        },
        {
            "id": "MONDO:0008745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008745",
            "name": "oculocutaneous albinism caused by mutation in Tyr",
            "description": ""
        },
        {
            "id": "MONDO:0008745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008745",
            "name": "oculocutaneous albinism, tyrosinase-negative",
            "description": ""
        },
        {
            "id": "MONDO:0008745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008745",
            "name": "tyrosinase-negative oculocutaneous albinism",
            "description": ""
        },
        {
            "id": "MONDO:0008745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008745",
            "name": "albinism, oculocutaneous, type IA",
            "description": ""
        },
        {
            "id": "MIM:203100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/203100",
            "name": "Albinism, oculocutaneous, 1A",
            "description": "Albinism, oculocutaneous, 1A"
        }
    ],
    "children": [
        {
            "id": "DOID:0070094",
            "label": "oculocutaneous albinism type IA",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070095",
            "label": "oculocutaneous albinism type IB",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070096",
            "label": "oculocutaneous albinism type II",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070097",
            "label": "oculocutaneous albinism type III",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070098",
            "label": "oculocutaneous albinism type IV",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070100",
            "label": "oculocutaneous albinism type VII",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080614",
            "label": "oculocutaneous albinism type VI",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0070094",
        "DOID:0070097",
        "DOID:0070098",
        "DOID:0050632",
        "DOID:0070095",
        "DOID:0070100",
        "DOID:0080614",
        "DOID:0070096"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050632",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050632",
            "categories": []
        },
        {
            "id": "MONDO:0008745",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008745",
            "categories": []
        },
        {
            "id": "MIM:203100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/203100",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1PAD4-1",
            "uniprot_ac": "A0A8M1PAD4",
            "uniprot_id": "A0A8M1PAD4_DANRE",
            "refseq_ac": "NP_571088",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosinase",
                    "type": "recommended"
                },
                {
                    "name": "1.14.18.1",
                    "type": "synonym"
                },
                {
                    "name": "Monophenol monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "oca1",
                    "type": "synonym"
                },
                {
                    "name": "sdy",
                    "type": "synonym"
                },
                {
                    "name": "tyra",
                    "type": "synonym"
                },
                {
                    "name": "tyrosinase precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tyr",
                    "type": "recommended"
                },
                {
                    "name": "sandy",
                    "type": "synonym"
                },
                {
                    "name": "tyr",
                    "type": "synonym"
                },
                {
                    "name": "zgc:109705",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1PAD4-1",
            "evidence": [
                {
                    "id": "0050632",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050632"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M1N8E1-1",
            "uniprot_ac": "A0A8M1N8E1",
            "uniprot_id": "A0A8M1N8E1_DANRE",
            "refseq_ac": "NP_001032777",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "BLOC-3 complex member HPS1",
                    "type": "synonym"
                },
                {
                    "name": "DKEYP-34H12.4",
                    "type": "synonym"
                },
                {
                    "name": "Hermansky-Pudlak syndrome 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hps1",
                    "type": "recommended"
                },
                {
                    "name": "hps1",
                    "type": "synonym"
                },
                {
                    "name": "im:7143944",
                    "type": "synonym"
                },
                {
                    "name": "zgc:123240",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1N8E1-1",
            "evidence": [
                {
                    "id": "0050632",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050632"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9PN14-1",
            "uniprot_ac": "A0A8M9PN14",
            "uniprot_id": "A0A8M9PN14_DANRE",
            "refseq_ac": "XP_021332872",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "P protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "oca2",
                    "type": "recommended"
                },
                {
                    "name": "oca2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PN14-1",
            "evidence": [
                {
                    "id": "0050632",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050632"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P58355-1",
            "uniprot_ac": "P58355",
            "uniprot_id": "S45A2_MOUSE",
            "refseq_ac": "NP_444307",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Membrane-associated transporter protein",
                    "type": "recommended"
                },
                {
                    "name": "B/AIM-1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Melanoma antigen AIM1",
                    "type": "synonym"
                },
                {
                    "name": "Protein AIM-1",
                    "type": "synonym"
                },
                {
                    "name": "Protein underwhite",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 45 member 2",
                    "type": "synonym"
                },
                {
                    "name": "dominant brown",
                    "type": "synonym"
                },
                {
                    "name": "melanoma antigen AIM1",
                    "type": "synonym"
                },
                {
                    "name": "membrane-associated transporter protein",
                    "type": "synonym"
                },
                {
                    "name": "protein AIM-1",
                    "type": "synonym"
                },
                {
                    "name": "protein underwhite",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc45a2",
                    "type": "recommended"
                },
                {
                    "name": "Aim-1",
                    "type": "synonym"
                },
                {
                    "name": "Aim1",
                    "type": "synonym"
                },
                {
                    "name": "Dbr",
                    "type": "synonym"
                },
                {
                    "name": "Matp",
                    "type": "synonym"
                },
                {
                    "name": "Oca4",
                    "type": "synonym"
                },
                {
                    "name": "Slc45a2",
                    "type": "synonym"
                },
                {
                    "name": "blanc-sale",
                    "type": "synonym"
                },
                {
                    "name": "bls",
                    "type": "synonym"
                },
                {
                    "name": "uw",
                    "type": "synonym"
                }
            ],
            "record_id": "P58355-1",
            "evidence": [
                {
                    "id": "0050632",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050632"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11344-1",
            "uniprot_ac": "P11344",
            "uniprot_id": "TYRO_MOUSE",
            "refseq_ac": "NP_035791",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosinase",
                    "type": "recommended"
                },
                {
                    "name": "1.14.18.1",
                    "type": "synonym"
                },
                {
                    "name": "Albino locus protein",
                    "type": "synonym"
                },
                {
                    "name": "Monophenol monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "albino locus protein",
                    "type": "synonym"
                },
                {
                    "name": "monophenol monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosinase isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tyr",
                    "type": "recommended"
                },
                {
                    "name": "Oca1",
                    "type": "synonym"
                },
                {
                    "name": "Tyr",
                    "type": "synonym"
                },
                {
                    "name": "albino",
                    "type": "synonym"
                },
                {
                    "name": "c",
                    "type": "synonym"
                },
                {
                    "name": "skc35",
                    "type": "synonym"
                }
            ],
            "record_id": "P11344-1",
            "evidence": [
                {
                    "id": "0050632",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050632"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62052-1",
            "uniprot_ac": "Q62052",
            "uniprot_id": "P_MOUSE",
            "refseq_ac": "NP_068679",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "P protein",
                    "type": "recommended"
                },
                {
                    "name": "Melanocyte-specific transporter protein",
                    "type": "synonym"
                },
                {
                    "name": "P protein",
                    "type": "synonym"
                },
                {
                    "name": "Pink-eyed dilution protein",
                    "type": "synonym"
                },
                {
                    "name": "melanocyte-specific transporter protein",
                    "type": "synonym"
                },
                {
                    "name": "pink-eyed dilution protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Oca2",
                    "type": "recommended"
                },
                {
                    "name": "D7H15S12",
                    "type": "synonym"
                },
                {
                    "name": "D7Icr28RN",
                    "type": "synonym"
                },
                {
                    "name": "D7Nic1",
                    "type": "synonym"
                },
                {
                    "name": "Oca2",
                    "type": "synonym"
                },
                {
                    "name": "P",
                    "type": "synonym"
                },
                {
                    "name": "p<cas>",
                    "type": "synonym"
                },
                {
                    "name": "p",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62052-1",
            "evidence": [
                {
                    "id": "0050632",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050632"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29812-1",
            "uniprot_ac": "P29812",
            "uniprot_id": "TYRP2_MOUSE",
            "refseq_ac": "NP_034154",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "L-dopachrome tautomerase",
                    "type": "recommended"
                },
                {
                    "name": "5.3.3.12",
                    "type": "synonym"
                },
                {
                    "name": "DCT",
                    "type": "synonym"
                },
                {
                    "name": "DOPAchrome conversion factor",
                    "type": "synonym"
                },
                {
                    "name": "DOPAchrome isomerase",
                    "type": "synonym"
                },
                {
                    "name": "DOPAchrome oxidoreductase",
                    "type": "synonym"
                },
                {
                    "name": "DT",
                    "type": "synonym"
                },
                {
                    "name": "L-dopachrome Delta-isomerase",
                    "type": "synonym"
                },
                {
                    "name": "L-dopachrome tautomerase precursor",
                    "type": "synonym"
                },
                {
                    "name": "L-dopachrome tautomerase",
                    "type": "synonym"
                },
                {
                    "name": "SLATY locus protein",
                    "type": "synonym"
                },
                {
                    "name": "TRP-2",
                    "type": "synonym"
                },
                {
                    "name": "TRP2",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosinase-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "tyrosinase-related protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dct",
                    "type": "recommended"
                },
                {
                    "name": "DT",
                    "type": "synonym"
                },
                {
                    "name": "Dct",
                    "type": "synonym"
                },
                {
                    "name": "TRP-2",
                    "type": "synonym"
                },
                {
                    "name": "TRP2",
                    "type": "synonym"
                },
                {
                    "name": "Tyrp-2",
                    "type": "synonym"
                },
                {
                    "name": "Tyrp2",
                    "type": "synonym"
                },
                {
                    "name": "slaty",
                    "type": "synonym"
                },
                {
                    "name": "slt",
                    "type": "synonym"
                }
            ],
            "record_id": "P29812-1",
            "evidence": [
                {
                    "id": "0050632",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050632"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08983-1",
            "uniprot_ac": "O08983",
            "uniprot_id": "HPS1_MOUSE",
            "refseq_ac": "NP_062297",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "BLOC-3 complex member HPS1",
                    "type": "recommended"
                },
                {
                    "name": "BLOC-3 complex member HPS1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "BLOC-3 complex member HPS1",
                    "type": "synonym"
                },
                {
                    "name": "Hermansky-Pudlak syndrome 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Hermansky-Pudlak syndrome 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Hermansky-Pudlak syndrome protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "hermansky-Pudlak syndrome 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "pale ear",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hps1",
                    "type": "recommended"
                },
                {
                    "name": "6030422N11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ep",
                    "type": "synonym"
                },
                {
                    "name": "Gm21361",
                    "type": "synonym"
                },
                {
                    "name": "Hps1",
                    "type": "synonym"
                },
                {
                    "name": "Hps",
                    "type": "synonym"
                },
                {
                    "name": "ep",
                    "type": "synonym"
                }
            ],
            "record_id": "O08983-1",
            "evidence": [
                {
                    "id": "0050632",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050632"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07147-1",
            "uniprot_ac": "P07147",
            "uniprot_id": "TYRP1_MOUSE",
            "refseq_ac": "NP_001268943",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "5,6-dihydroxyindole-2-carboxylic acid oxidase",
                    "type": "recommended"
                },
                {
                    "name": "1.14.18.-",
                    "type": "synonym"
                },
                {
                    "name": "5,6-dihydroxyindole-2-carboxylic acid oxidase precursor",
                    "type": "synonym"
                },
                {
                    "name": "5,6-dihydroxyindole-2-carboxylic acid oxidase",
                    "type": "synonym"
                },
                {
                    "name": "Brown locus protein",
                    "type": "synonym"
                },
                {
                    "name": "Catalase B",
                    "type": "synonym"
                },
                {
                    "name": "DHICA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "TRP-1",
                    "type": "synonym"
                },
                {
                    "name": "TRP1",
                    "type": "synonym"
                },
                {
                    "name": "TRP",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosinase-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "brown locus protein",
                    "type": "synonym"
                },
                {
                    "name": "catalase B",
                    "type": "synonym"
                },
                {
                    "name": "iris stromal atrophy",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tyrp1",
                    "type": "recommended"
                },
                {
                    "name": "Oca3",
                    "type": "synonym"
                },
                {
                    "name": "TRP-1",
                    "type": "synonym"
                },
                {
                    "name": "TRP1",
                    "type": "synonym"
                },
                {
                    "name": "Tyrp-1",
                    "type": "synonym"
                },
                {
                    "name": "Tyrp1",
                    "type": "synonym"
                },
                {
                    "name": "Tyrp",
                    "type": "synonym"
                },
                {
                    "name": "brown",
                    "type": "synonym"
                },
                {
                    "name": "b",
                    "type": "synonym"
                },
                {
                    "name": "isa",
                    "type": "synonym"
                }
            ],
            "record_id": "P07147-1",
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                {
                    "id": "0050632",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050632"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46460-1",
            "uniprot_ac": "P46460",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vesicle-fusing ATPase",
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                },
                {
                    "name": "3.6.4.6",
                    "type": "synonym"
                },
                {
                    "name": "N-ethylmaleimide sensitive factor",
                    "type": "synonym"
                },
                {
                    "name": "N-ethylmaleimide-sensitive fusion protein",
                    "type": "synonym"
                },
                {
                    "name": "NEM-sensitive fusion protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein SKD2",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor of K(+) transport growth defect 2",
                    "type": "synonym"
                },
                {
                    "name": "Vesicular-fusion protein NSF",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of K(+) transport growth defect 2",
                    "type": "synonym"
                },
                {
                    "name": "vesicle-fusing ATPase",
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                {
                    "name": "vesicular-fusion protein NSF",
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                }
            ],
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                {
                    "name": "Nsf",
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                },
                {
                    "name": "Nsf",
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                },
                {
                    "name": "SKD2",
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                },
                {
                    "name": "Skd2",
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                }
            ],
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                {
                    "id": "0050632",
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                }
            ]
        },
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
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                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Tyrosinase",
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                },
                {
                    "name": "1.14.18.1",
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                },
                {
                    "name": "LB24-AB",
                    "type": "synonym"
                },
                {
                    "name": "Monophenol monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "SK29-AB",
                    "type": "synonym"
                },
                {
                    "name": "Tumor rejection antigen AB",
                    "type": "synonym"
                },
                {
                    "name": "monophenol monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "oculocutaneous albinism IA",
                    "type": "synonym"
                },
                {
                    "name": "tumor rejection antigen AB",
                    "type": "synonym"
                },
                {
                    "name": "tyrosinase precursor",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "TYR",
                    "type": "recommended"
                },
                {
                    "name": "ATN",
                    "type": "synonym"
                },
                {
                    "name": "CMM8",
                    "type": "synonym"
                },
                {
                    "name": "OCA1A",
                    "type": "synonym"
                },
                {
                    "name": "OCA1",
                    "type": "synonym"
                },
                {
                    "name": "OCAIA",
                    "type": "synonym"
                },
                {
                    "name": "SHEP3",
                    "type": "synonym"
                },
                {
                    "name": "TYR",
                    "type": "synonym"
                }
            ],
            "record_id": "P14679-1",
            "evidence": [
                {
                    "id": "203100",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/203100"
                },
                {
                    "id": "0050632",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050632"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18759-1",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                {
                    "name": "Vesicular-fusion protein SEC18",
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                },
                {
                    "name": "AAA family ATPase SEC18",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SEC18",
                    "type": "recommended"
                },
                {
                    "name": "ANU4",
                    "type": "synonym"
                },
                {
                    "name": "SEC18",
                    "type": "synonym"
                },
                {
                    "name": "YBR0736",
                    "type": "synonym"
                }
            ],
            "record_id": "P18759-1",
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                {
                    "id": "0050632",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050632"
                }
            ]
        },
        {
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "L-dopachrome tautomerase",
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                },
                {
                    "name": "5.3.3.12",
                    "type": "synonym"
                },
                {
                    "name": "L-dopachrome Delta-isomerase",
                    "type": "synonym"
                },
                {
                    "name": "L-dopachrome tautomerase precursor",
                    "type": "synonym"
                },
                {
                    "name": "L-dopachrome tautomerase",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosinase-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2)",
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                }
            ],
            "gene_names": [
                {
                    "name": "Dct",
                    "type": "recommended"
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                {
                    "name": "Dct",
                    "type": "synonym"
                },
                {
                    "name": "RGD1564975",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AEZ4-1",
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                {
                    "id": "0050632",
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                }
            ]
        },
        {
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "BLOC-3 complex member HPS1",
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                },
                {
                    "name": "HPS1, biogenesis of lysosomal organelles complex 3 subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "Hermansky-Pudlak syndrome 1 homolog",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Hps1",
                    "type": "recommended"
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                {
                    "name": "Hps1",
                    "type": "synonym"
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                {
                    "name": "Hps",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AEI1-1",
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                {
                    "id": "0050632",
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                }
            ]
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                    "name": "Rattus norvegicus",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "Tyrosinase",
                    "type": "recommended"
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                {
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                },
                {
                    "name": "Monophenol monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosinase precursor",
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                }
            ],
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                {
                    "name": "Tyr",
                    "type": "recommended"
                },
                {
                    "name": "Tyr",
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                }
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            "record_id": "D4A9G4-1",
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                    "id": "0050632",
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                }
            ]
        },
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "5,6-dihydroxyindole-2-carboxylic acid oxidase",
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                },
                {
                    "name": "Catalase B",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosinase-related protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tyrp1",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZH71-1",
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                {
                    "id": "0050632",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050632"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QUL6-1",
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Vesicle-fusing ATPase",
                    "type": "recommended"
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                {
                    "name": "3.6.4.6",
                    "type": "synonym"
                },
                {
                    "name": "N-ethylmaleimide-sensitive factor",
                    "type": "synonym"
                },
                {
                    "name": "N-ethylmaleimide-sensitive fusion protein",
                    "type": "synonym"
                },
                {
                    "name": "NEM-sensitive fusion protein",
                    "type": "synonym"
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                {
                    "name": "Vesicular-fusion protein NSF",
                    "type": "synonym"
                },
                {
                    "name": "vesicle-fusing ATPase",
                    "type": "synonym"
                },
                {
                    "name": "vesicular-fusion protein NSF",
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                }
            ],
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                {
                    "name": "Nsf",
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                {
                    "name": "Erg1",
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                {
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            ],
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                {
                    "id": "0050632",
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            ]
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        {
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            "uniprot_ac": "A0A8I6B3Q4",
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            "glycoprotein": "yes",
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                    "name": "Rattus norvegicus",
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                }
            ],
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                {
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            ],
            "record_id": "A0A8I6B3Q4-1",
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                {
                    "id": "0050632",
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            ]
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                    "name": "Solute carrier family 45, member 2",
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                {
                    "name": "membrane associated transporter protein",
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                },
                {
                    "name": "membrane-associated transporter protein",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Slc45a2",
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                },
                {
                    "name": "Matp",
                    "type": "synonym"
                },
                {
                    "name": "Slc45a2",
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                }
            ],
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                    "id": "0050632",
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            ]
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            ],
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                    "name": "Gastric inhibitory polypeptide",
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                    "name": "GIP",
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                },
                {
                    "name": "Glucose-dependent insulinotropic peptide",
                    "type": "synonym"
                },
                {
                    "name": "Glucose-dependent insulinotropic polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "gastric inhibitory polypeptide precursor",
                    "type": "synonym"
                },
                {
                    "name": "glucose-dependent insulinotropic polypeptide",
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                }
            ],
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                    "name": "Gip",
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                {
                    "name": "Gip",
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                {
                    "name": "Gludins",
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                {
                    "name": "RATGLUDINS",
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            ],
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                {
                    "id": "0050632",
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                }
            ]
        },
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                }
            ],
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                    "name": "Vesicle-fusing ATPase 1",
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                },
                {
                    "name": "CG1618-PB",
                    "type": "synonym"
                },
                {
                    "name": "N-Ethylmaleimide-sensitive factor",
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                {
                    "name": "N-ethyl-maleimide sensitive fusion protein",
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                {
                    "name": "N-ethylmaleimide-sensitive factor 1",
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                {
                    "name": "N-ethylmaleimide-sensitive fusion protein 1",
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                {
                    "name": "N-ethylmaleimide-sensitive fusion protein",
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                {
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                {
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                {
                    "name": "NSF-1",
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                {
                    "name": "Protein comatose",
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                },
                {
                    "name": "Vesicular-fusion protein NSF1",
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                {
                    "name": "comatose, isoform B",
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                {
                    "name": "comatose",
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                {
                    "name": "comt-PB",
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                {
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            ],
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                    "name": "comt",
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                    "name": "CG 1618",
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                },
                {
                    "name": "CG1618",
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                {
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                {
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                {
                    "name": "Dmel\\CG1618",
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                },
                {
                    "name": "Dmel_CG1618",
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                {
                    "name": "NSF 1",
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                },
                {
                    "name": "NSF-1",
                    "type": "synonym"
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                {
                    "name": "NSF1",
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                {
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                {
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                },
                {
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                {
                    "name": "comt",
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                },
                {
                    "name": "com",
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                {
                    "name": "dNSF-1",
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                {
                    "name": "dNSF1",
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                },
                {
                    "name": "dNSF",
                    "type": "synonym"
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                {
                    "name": "dNsf1",
                    "type": "synonym"
                },
                {
                    "name": "dnsf1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050632",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050632"
                }
            ]
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            "uniprot_canonical_ac": "Q8ING5-1",
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            "glycoprotein": "no",
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                {
                    "name": "Drosophila melanogaster",
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                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vesicle-fusing ATPase",
                    "type": "recommended"
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                {
                    "name": "3.6.4.6",
                    "type": "synonym"
                },
                {
                    "name": "CG31495-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG31495",
                    "type": "recommended"
                },
                {
                    "name": "CG31495",
                    "type": "synonym"
                },
                {
                    "name": "CG9931",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31495",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31495",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8ING5-1",
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                {
                    "id": "0050632",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050632"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VU30-1",
            "uniprot_ac": "Q9VU30",
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            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Citrate transporter-like domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG11262-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG11262",
                    "type": "recommended"
                },
                {
                    "name": "CG11262",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11262",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11262",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VU30-1",
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                {
                    "id": "0050632",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050632"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VR47-1",
            "uniprot_ac": "Q9VR47",
            "uniprot_id": "Q9VR47_DROME",
            "refseq_ac": "NP_001285607",
            "glycoprotein": "no",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG12787-PJ",
                    "type": "synonym"
                },
                {
                    "name": "Hoepel1, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Hoepel1, isoform J",
                    "type": "synonym"
                },
                {
                    "name": "hoe1-PJ",
                    "type": "synonym"
                },
                {
                    "name": "hoepel1, isoform J",
                    "type": "synonym"
                },
                {
                    "name": "hoepel",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hoe1",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GH02636",
                    "type": "synonym"
                },
                {
                    "name": "CG11918",
                    "type": "synonym"
                },
                {
                    "name": "CG12787",
                    "type": "synonym"
                },
                {
                    "name": "CG2831",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12787",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12787",
                    "type": "synonym"
                },
                {
                    "name": "Hoe1",
                    "type": "synonym"
                },
                {
                    "name": "hoe-1",
                    "type": "synonym"
                },
                {
                    "name": "hoe1",
                    "type": "synonym"
                },
                {
                    "name": "hoe",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VR47-1",
            "evidence": [
                {
                    "id": "0050632",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050632"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VR48-1",
            "uniprot_ac": "Q9VR48",
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            "glycoprotein": "no",
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                {
                    "name": "Drosophila melanogaster",
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                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG15624-PA",
                    "type": "synonym"
                },
                {
                    "name": "Hoepel2",
                    "type": "synonym"
                },
                {
                    "name": "hoe2-PA",
                    "type": "synonym"
                },
                {
                    "name": "hoepel2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hoe2",
                    "type": "recommended"
                },
                {
                    "name": "CG15624",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15624",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG15624",
                    "type": "synonym"
                },
                {
                    "name": "hoe2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VR48-1",
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                {
                    "id": "0050632",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050632"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KRS1-1",
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            "refseq_ac": "NP_724369",
            "glycoprotein": "no",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Citrate transporter-like domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG31693-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG31693",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GH25177",
                    "type": "synonym"
                },
                {
                    "name": "CG31693",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31693",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31693",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7KRS1-1",
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                {
                    "id": "0050632",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050632"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W024-1",
            "uniprot_ac": "Q9W024",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Citrate transporter-like domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG13801-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG13801",
                    "type": "recommended"
                },
                {
                    "name": "CG13801",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13801",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG13801",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W024-1",
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                {
                    "id": "0050632",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050632"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VSV1-1",
            "uniprot_ac": "Q9VSV1",
            "uniprot_id": "Q9VSV1_DROME",
            "refseq_ac": "NP_001261618",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG4484-PB",
                    "type": "synonym"
                },
                {
                    "name": "Slc45 ortholog 1",
                    "type": "synonym"
                },
                {
                    "name": "Slc45-1-PB",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 45 member 1, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 45 member 1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 45 member 1, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 45 member 1, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 45 member 1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "sucrose transporter",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Slc45-1",
                    "type": "recommended"
                },
                {
                    "name": "CG4484",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4484",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4484",
                    "type": "synonym"
                },
                {
                    "name": "Slc45-1",
                    "type": "synonym"
                },
                {
                    "name": "scrt",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050632",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050632"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40126-1",
            "uniprot_ac": "P40126",
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            "glycoprotein": "yes",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "L-dopachrome tautomerase",
                    "type": "recommended"
                },
                {
                    "name": "5.3.3.12",
                    "type": "synonym"
                },
                {
                    "name": "DCT",
                    "type": "synonym"
                },
                {
                    "name": "DT",
                    "type": "synonym"
                },
                {
                    "name": "L-dopachrome Delta-isomerase",
                    "type": "synonym"
                },
                {
                    "name": "L-dopachrome isomerase",
                    "type": "synonym"
                },
                {
                    "name": "L-dopachrome tautomerase isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "L-dopachrome tautomerase",
                    "type": "synonym"
                },
                {
                    "name": "TRP-2",
                    "type": "synonym"
                },
                {
                    "name": "TRP2",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosinase-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "dopachrome delta-isomerase",
                    "type": "synonym"
                },
                {
                    "name": "dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2)",
                    "type": "synonym"
                },
                {
                    "name": "tyrosinase related protein-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DCT",
                    "type": "recommended"
                },
                {
                    "name": "DCT",
                    "type": "synonym"
                },
                {
                    "name": "OCA8",
                    "type": "synonym"
                },
                {
                    "name": "TRP-2",
                    "type": "synonym"
                },
                {
                    "name": "TYRP2",
                    "type": "synonym"
                }
            ],
            "record_id": "P40126-1",
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                {
                    "id": "0050632",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050632"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46459-1",
            "uniprot_ac": "P46459",
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            "refseq_ac": "NP_006169",
            "glycoprotein": "yes",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vesicle-fusing ATPase",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.6",
                    "type": "synonym"
                },
                {
                    "name": "N-ethylmaleimide-sensitive factor-like protein",
                    "type": "synonym"
                },
                {
                    "name": "N-ethylmaleimide-sensitive fusion protein",
                    "type": "synonym"
                },
                {
                    "name": "NEM-sensitive fusion protein",
                    "type": "synonym"
                },
                {
                    "name": "Vesicular-fusion protein NSF",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "vesicle-fusing ATPase",
                    "type": "synonym"
                },
                {
                    "name": "vesicular-fusion protein NSF",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "NSF",
                    "type": "recommended"
                },
                {
                    "name": "DEE96",
                    "type": "synonym"
                },
                {
                    "name": "NSF",
                    "type": "synonym"
                },
                {
                    "name": "SEC18",
                    "type": "synonym"
                },
                {
                    "name": "SKD2",
                    "type": "synonym"
                }
            ],
            "record_id": "P46459-1",
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                {
                    "id": "0050632",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050632"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04671-1",
            "uniprot_ac": "Q04671",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "P protein",
                    "type": "recommended"
                },
                {
                    "name": "Melanocyte-specific transporter protein",
                    "type": "synonym"
                },
                {
                    "name": "P protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "P-protein",
                    "type": "synonym"
                },
                {
                    "name": "Pink-eyed dilution protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "eye color 2 (central brown)",
                    "type": "synonym"
                },
                {
                    "name": "eye color 3 (brown)",
                    "type": "synonym"
                },
                {
                    "name": "hair color 3 (brown)",
                    "type": "synonym"
                },
                {
                    "name": "melanocyte-specific transporter protein",
                    "type": "synonym"
                },
                {
                    "name": "oculocutaneous albinism II (pink-eye dilution homolog, mouse)",
                    "type": "synonym"
                },
                {
                    "name": "pink-eyed dilution protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "total brown iris pigmentation",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OCA2",
                    "type": "recommended"
                },
                {
                    "name": "BEY1",
                    "type": "synonym"
                },
                {
                    "name": "BEY2",
                    "type": "synonym"
                },
                {
                    "name": "BEY",
                    "type": "synonym"
                },
                {
                    "name": "BOCA",
                    "type": "synonym"
                },
                {
                    "name": "D15S12",
                    "type": "synonym"
                },
                {
                    "name": "EYCL2",
                    "type": "synonym"
                },
                {
                    "name": "EYCL3",
                    "type": "synonym"
                },
                {
                    "name": "EYCL",
                    "type": "synonym"
                },
                {
                    "name": "HCL3",
                    "type": "synonym"
                },
                {
                    "name": "OCA2",
                    "type": "synonym"
                },
                {
                    "name": "PED",
                    "type": "synonym"
                },
                {
                    "name": "P",
                    "type": "synonym"
                },
                {
                    "name": "SHEP1",
                    "type": "synonym"
                },
                {
                    "name": "SLC13B1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04671-1",
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                {
                    "id": "0050632",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050632"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UMX9-1",
            "uniprot_ac": "Q9UMX9",
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            "refseq_ac": "NP_001284346",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Membrane-associated transporter protein",
                    "type": "recommended"
                },
                {
                    "name": "Melanoma antigen AIM1",
                    "type": "synonym"
                },
                {
                    "name": "Protein AIM-1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 45 member 2",
                    "type": "synonym"
                },
                {
                    "name": "antigen in melanoma 1",
                    "type": "synonym"
                },
                {
                    "name": "melanoma antigen AIM1",
                    "type": "synonym"
                },
                {
                    "name": "membrane-associated transporter protein isoform c",
                    "type": "synonym"
                },
                {
                    "name": "membrane-associated transporter protein",
                    "type": "synonym"
                },
                {
                    "name": "oculocutaneous albinism type 4",
                    "type": "synonym"
                },
                {
                    "name": "protein AIM-1",
                    "type": "synonym"
                },
                {
                    "name": "underwhite",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC45A2",
                    "type": "recommended"
                },
                {
                    "name": "1A1",
                    "type": "synonym"
                },
                {
                    "name": "AIM1",
                    "type": "synonym"
                },
                {
                    "name": "MATP",
                    "type": "synonym"
                },
                {
                    "name": "OCA4",
                    "type": "synonym"
                },
                {
                    "name": "SHEP5",
                    "type": "synonym"
                },
                {
                    "name": "SLC45A2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UMX9-1",
            "evidence": [
                {
                    "id": "0050632",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050632"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17643-1",
            "uniprot_ac": "P17643",
            "uniprot_id": "TYRP1_HUMAN",
            "refseq_ac": "NP_000541",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "5,6-dihydroxyindole-2-carboxylic acid oxidase",
                    "type": "recommended"
                },
                {
                    "name": "1.14.18.-",
                    "type": "synonym"
                },
                {
                    "name": "5,6-dihydroxyindole-2-carboxylic acid oxidase precursor",
                    "type": "synonym"
                },
                {
                    "name": "5,6-dihydroxyindole-2-carboxylic acid oxidase",
                    "type": "synonym"
                },
                {
                    "name": "Catalase B",
                    "type": "synonym"
                },
                {
                    "name": "DHICA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "Glycoprotein 75",
                    "type": "synonym"
                },
                {
                    "name": "Melanoma antigen gp75",
                    "type": "synonym"
                },
                {
                    "name": "TRP-1",
                    "type": "synonym"
                },
                {
                    "name": "TRP1",
                    "type": "synonym"
                },
                {
                    "name": "TRP",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosinase-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "catalase B",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein 75",
                    "type": "synonym"
                },
                {
                    "name": "melanoma antigen gp75",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TYRP1",
                    "type": "recommended"
                },
                {
                    "name": "CAS2",
                    "type": "synonym"
                },
                {
                    "name": "CATB",
                    "type": "synonym"
                },
                {
                    "name": "GP75",
                    "type": "synonym"
                },
                {
                    "name": "OCA3",
                    "type": "synonym"
                },
                {
                    "name": "TRP1",
                    "type": "synonym"
                },
                {
                    "name": "TRP",
                    "type": "synonym"
                },
                {
                    "name": "TYRP1",
                    "type": "synonym"
                },
                {
                    "name": "TYRP",
                    "type": "synonym"
                },
                {
                    "name": "TYRRP",
                    "type": "synonym"
                },
                {
                    "name": "b-PROTEIN",
                    "type": "synonym"
                }
            ],
            "record_id": "P17643-1",
            "evidence": [
                {
                    "id": "0050632",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050632"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92902-1",
            "uniprot_ac": "Q92902",
            "uniprot_id": "HPS1_HUMAN",
            "refseq_ac": "NP_000186",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "BLOC-3 complex member HPS1",
                    "type": "recommended"
                },
                {
                    "name": "BLOC-3 complex member HPS1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "BLOC-3 complex member HPS1",
                    "type": "synonym"
                },
                {
                    "name": "Hermansky-Pudlak syndrome 1 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HPS1",
                    "type": "recommended"
                },
                {
                    "name": "BLOC3S1",
                    "type": "synonym"
                },
                {
                    "name": "HPS1",
                    "type": "synonym"
                },
                {
                    "name": "HPS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92902-1",
            "evidence": [
                {
                    "id": "0050632",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050632"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050632"
}