{
    "disease_id": "DOID:0050964",
    "recommended_name": {
        "id": "DOID:0050964",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050964",
        "name": "spinocerebellar ataxia 14",
        "description": "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the PRKCG gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0011540",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011540",
            "name": "spinocerebellar ataxia type 14",
            "description": "Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive ataxia, dysarthria and nystagmus."
        },
        {
            "id": "MONDO:0011540",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011540",
            "name": "SCA14",
            "description": ""
        },
        {
            "id": "MONDO:0011540",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011540",
            "name": "spinocerebellar ataxia type 14",
            "description": ""
        },
        {
            "id": "MONDO:0011540",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011540",
            "name": "spinocerebellar ataxia 14",
            "description": ""
        },
        {
            "id": "MIM:605361",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605361",
            "name": "Spinocerebellar ataxia 14",
            "description": "Spinocerebellar ataxia 14"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050964"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050964",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050964",
            "categories": []
        },
        {
            "id": "MONDO:0011540",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011540",
            "categories": []
        },
        {
            "id": "MIM:605361",
            "database": "MIM",
            "url": "https://www.omim.org/entry/605361",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1QQZ0-1",
            "uniprot_ac": "A0A8M1QQZ0",
            "uniprot_id": "A0A8M1QQZ0_DANRE",
            "refseq_ac": "XP_001921715",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein kinase C",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.13",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C alpha type isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "prkcg",
                    "type": "recommended"
                },
                {
                    "name": "prkcg",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1QQZ0-1",
            "evidence": [
                {
                    "id": "0050964",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050964"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63318-1",
            "uniprot_ac": "P63318",
            "uniprot_id": "KPCG_MOUSE",
            "refseq_ac": "NP_035232",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein kinase C gamma type",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.13",
                    "type": "synonym"
                },
                {
                    "name": "PKC-gamma",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C gamma type isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C gamma type",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prkcg",
                    "type": "recommended"
                },
                {
                    "name": "PKCgamma",
                    "type": "synonym"
                },
                {
                    "name": "Pkcc",
                    "type": "synonym"
                },
                {
                    "name": "Pkcg",
                    "type": "synonym"
                },
                {
                    "name": "Prkcc",
                    "type": "synonym"
                },
                {
                    "name": "Prkcg",
                    "type": "synonym"
                }
            ],
            "record_id": "P63318-1",
            "evidence": [
                {
                    "id": "0050964",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050964"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05129-1",
            "uniprot_ac": "P05129",
            "uniprot_id": "KPCG_HUMAN",
            "refseq_ac": "NP_001303258",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein kinase C gamma type",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.13",
                    "type": "synonym"
                },
                {
                    "name": "PKC-gamma",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C gamma type isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C gamma type",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRKCG",
                    "type": "recommended"
                },
                {
                    "name": "PKC-gamma",
                    "type": "synonym"
                },
                {
                    "name": "PKCC",
                    "type": "synonym"
                },
                {
                    "name": "PKCG",
                    "type": "synonym"
                },
                {
                    "name": "PKCI(3)",
                    "type": "synonym"
                },
                {
                    "name": "PKCgamma",
                    "type": "synonym"
                },
                {
                    "name": "PRKCG",
                    "type": "synonym"
                },
                {
                    "name": "SCA14",
                    "type": "synonym"
                }
            ],
            "record_id": "P05129-1",
            "evidence": [
                {
                    "id": "605361",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/605361"
                },
                {
                    "id": "0050964",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050964"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P24583-1",
            "uniprot_ac": "P24583",
            "uniprot_id": "KPC1_YEAST",
            "refseq_ac": "NP_009445",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein kinase C-like 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.13",
                    "type": "synonym"
                },
                {
                    "name": "PKC 1",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PKC1",
                    "type": "recommended"
                },
                {
                    "name": "CLY15",
                    "type": "synonym"
                },
                {
                    "name": "CLY5",
                    "type": "synonym"
                },
                {
                    "name": "CLY7",
                    "type": "synonym"
                },
                {
                    "name": "HPO2",
                    "type": "synonym"
                },
                {
                    "name": "PKC1",
                    "type": "synonym"
                },
                {
                    "name": "RSF8",
                    "type": "synonym"
                },
                {
                    "name": "STT1",
                    "type": "synonym"
                },
                {
                    "name": "YBL0807",
                    "type": "synonym"
                }
            ],
            "record_id": "P24583-1",
            "evidence": [
                {
                    "id": "0050964",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050964"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63319-1",
            "uniprot_ac": "P63319",
            "uniprot_id": "KPCG_RAT",
            "refseq_ac": "NP_036760",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein kinase C gamma type",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.13",
                    "type": "synonym"
                },
                {
                    "name": "PKC-gamma",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C gamma type",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C type I (gamma type)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prkcg",
                    "type": "recommended"
                },
                {
                    "name": "PKCI",
                    "type": "synonym"
                },
                {
                    "name": "PKC",
                    "type": "synonym"
                },
                {
                    "name": "Pkcc",
                    "type": "synonym"
                },
                {
                    "name": "Pkcg",
                    "type": "synonym"
                },
                {
                    "name": "Prkcc",
                    "type": "synonym"
                },
                {
                    "name": "Prkcg",
                    "type": "synonym"
                },
                {
                    "name": "Prkc",
                    "type": "synonym"
                },
                {
                    "name": "RATPKCI",
                    "type": "synonym"
                }
            ],
            "record_id": "P63319-1",
            "evidence": [
                {
                    "id": "0050964",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050964"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13677-1",
            "uniprot_ac": "P13677",
            "uniprot_id": "KPC2_DROME",
            "refseq_ac": "NP_476863",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein kinase C, eye isozyme",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.13",
                    "type": "synonym"
                },
                {
                    "name": "CG6518-PA",
                    "type": "synonym"
                },
                {
                    "name": "Eye-PKC",
                    "type": "synonym"
                },
                {
                    "name": "Inactivation no after-potential C protein",
                    "type": "synonym"
                },
                {
                    "name": "PKC-eye",
                    "type": "synonym"
                },
                {
                    "name": "Photoreceptor-specific PKC",
                    "type": "synonym"
                },
                {
                    "name": "Protein INAC",
                    "type": "synonym"
                },
                {
                    "name": "Protein-kinase-2",
                    "type": "synonym"
                },
                {
                    "name": "dPKC53E(EY)",
                    "type": "synonym"
                },
                {
                    "name": "eye-PKC",
                    "type": "synonym"
                },
                {
                    "name": "eye-protein-kinase C",
                    "type": "synonym"
                },
                {
                    "name": "eye-specific PKC",
                    "type": "synonym"
                },
                {
                    "name": "inaC-PA",
                    "type": "synonym"
                },
                {
                    "name": "inactivation no afterpotential C",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase-c2",
                    "type": "synonym"
                },
                {
                    "name": "protein-kinase-C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "inaC",
                    "type": "recommended"
                },
                {
                    "name": "CG6518",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6518",
                    "type": "synonym"
                },
                {
                    "name": "Dpkc2",
                    "type": "synonym"
                },
                {
                    "name": "INAC",
                    "type": "synonym"
                },
                {
                    "name": "InaC",
                    "type": "synonym"
                },
                {
                    "name": "PK-C",
                    "type": "synonym"
                },
                {
                    "name": "PKC 53E",
                    "type": "synonym"
                },
                {
                    "name": "PKC2",
                    "type": "synonym"
                },
                {
                    "name": "PKCinac",
                    "type": "synonym"
                },
                {
                    "name": "PKCi",
                    "type": "synonym"
                },
                {
                    "name": "PKC",
                    "type": "synonym"
                },
                {
                    "name": "Pkc2",
                    "type": "synonym"
                },
                {
                    "name": "dPKC53E(ey)",
                    "type": "synonym"
                },
                {
                    "name": "dPKC53E",
                    "type": "synonym"
                },
                {
                    "name": "ePKC",
                    "type": "synonym"
                },
                {
                    "name": "eye PKC",
                    "type": "synonym"
                },
                {
                    "name": "eye-PKC",
                    "type": "synonym"
                },
                {
                    "name": "eyePKC",
                    "type": "synonym"
                },
                {
                    "name": "inaC",
                    "type": "synonym"
                },
                {
                    "name": "inac",
                    "type": "synonym"
                },
                {
                    "name": "pkc-2",
                    "type": "synonym"
                }
            ],
            "record_id": "P13677-1",
            "evidence": [
                {
                    "id": "0050964",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050964"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05130-1",
            "uniprot_ac": "P05130",
            "uniprot_id": "KPC1_DROME",
            "refseq_ac": "NP_001261035",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein kinase C, brain isozyme",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.13",
                    "type": "synonym"
                },
                {
                    "name": "CG6622-PF",
                    "type": "synonym"
                },
                {
                    "name": "PKC",
                    "type": "synonym"
                },
                {
                    "name": "Pkc53E-PF",
                    "type": "synonym"
                },
                {
                    "name": "dPKC53E(BR)",
                    "type": "synonym"
                },
                {
                    "name": "protein C kinase 53E, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase-C 53E",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase-c1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pkc53E",
                    "type": "recommended"
                },
                {
                    "name": "CG6622",
                    "type": "synonym"
                },
                {
                    "name": "DPKC",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6622",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6622",
                    "type": "synonym"
                },
                {
                    "name": "Dpkc1",
                    "type": "synonym"
                },
                {
                    "name": "PK-C",
                    "type": "synonym"
                },
                {
                    "name": "PKC 53B",
                    "type": "synonym"
                },
                {
                    "name": "PKC 53E",
                    "type": "synonym"
                },
                {
                    "name": "PKC-53B",
                    "type": "synonym"
                },
                {
                    "name": "PKC-53E",
                    "type": "synonym"
                },
                {
                    "name": "PKC1",
                    "type": "synonym"
                },
                {
                    "name": "PKC53E",
                    "type": "synonym"
                },
                {
                    "name": "PKC53e",
                    "type": "synonym"
                },
                {
                    "name": "PKC",
                    "type": "synonym"
                },
                {
                    "name": "Pkc1",
                    "type": "synonym"
                },
                {
                    "name": "Pkc53E",
                    "type": "synonym"
                },
                {
                    "name": "dPKC53E(br)",
                    "type": "synonym"
                },
                {
                    "name": "dPKC",
                    "type": "synonym"
                },
                {
                    "name": "pck53E",
                    "type": "synonym"
                },
                {
                    "name": "pkc53E",
                    "type": "synonym"
                },
                {
                    "name": "pkc53e",
                    "type": "synonym"
                }
            ],
            "record_id": "P05130-1",
            "evidence": [
                {
                    "id": "0050964",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050964"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050964"
}