{
    "disease_id": "DOID:0081298",
    "recommended_name": {
        "id": "DOID:0081298",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081298",
        "name": "oculopharyngodistal myopathy 2",
        "description": "An oculopharyngodistal myopathy that is characterized by onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life, and that has_material_basis_in heterozygous trinucleotide repeat expansion (GGC(n)) in the 5-prime untranslated region (UTR) of the GIPC1 gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0030134",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030134",
            "name": "oculopharyngodistal myopathy 2",
            "description": ""
        },
        {
            "id": "MONDO:0030134",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030134",
            "name": "OCULOPHARYNGODISTAL MYOPATHY 2",
            "description": ""
        },
        {
            "id": "MONDO:0030134",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030134",
            "name": "OPDM2",
            "description": ""
        },
        {
            "id": "MONDO:0030134",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030134",
            "name": "oculopharyngodistal myopathy 2",
            "description": ""
        },
        {
            "id": "MIM:618940",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618940",
            "name": "Oculopharyngodistal myopathy 2",
            "description": "Oculopharyngodistal myopathy 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081298"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081298",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081298",
            "categories": []
        },
        {
            "id": "MONDO:0030134",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030134",
            "categories": []
        },
        {
            "id": "MIM:618940",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618940",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9Z0G0-1",
            "uniprot_ac": "Q9Z0G0",
            "uniprot_id": "GIPC1_MOUSE",
            "refseq_ac": "NP_061241",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "PDZ domain-containing protein GIPC1",
                    "type": "recommended"
                },
                {
                    "name": "GAIP C-terminus-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "PDZ domain-containing protein GIPC1",
                    "type": "synonym"
                },
                {
                    "name": "RGS-GAIP interacting protein GIPC",
                    "type": "synonym"
                },
                {
                    "name": "RGS-GAIP-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "RGS19-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SEMCAP-1",
                    "type": "synonym"
                },
                {
                    "name": "SemaF cytoplasmic domain-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Synectin",
                    "type": "synonym"
                },
                {
                    "name": "Tax interacting protein, clone 2",
                    "type": "synonym"
                },
                {
                    "name": "neurophilin1-IP",
                    "type": "synonym"
                },
                {
                    "name": "regulator of G-protein signaling 19 interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "semaF cytoplasmic domain associated protein",
                    "type": "synonym"
                },
                {
                    "name": "semaF cytoplasmic domain-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "synectin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gipc1",
                    "type": "recommended"
                },
                {
                    "name": "GIPC",
                    "type": "synonym"
                },
                {
                    "name": "Gipc1",
                    "type": "synonym"
                },
                {
                    "name": "Gipc",
                    "type": "synonym"
                },
                {
                    "name": "Glut1CIP",
                    "type": "synonym"
                },
                {
                    "name": "Rgs19ip1",
                    "type": "synonym"
                },
                {
                    "name": "Semcap1",
                    "type": "synonym"
                },
                {
                    "name": "TIP-2",
                    "type": "synonym"
                },
                {
                    "name": "TaxIP2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z0G0-1",
            "evidence": [
                {
                    "id": "0081298",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081298"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14908-1",
            "uniprot_ac": "O14908",
            "uniprot_id": "GIPC1_HUMAN",
            "refseq_ac": "NP_005707",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "PDZ domain-containing protein GIPC1",
                    "type": "recommended"
                },
                {
                    "name": "GAIP C-terminus-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "GLUT1 C-terminal binding protein",
                    "type": "synonym"
                },
                {
                    "name": "IGF-1 receptor interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "PDZ domain-containing protein GIPC1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "PDZ domain-containing protein GIPC1",
                    "type": "synonym"
                },
                {
                    "name": "RGS-GAIP-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "RGS19-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Synectin",
                    "type": "synonym"
                },
                {
                    "name": "TIP-2",
                    "type": "synonym"
                },
                {
                    "name": "Tax interaction protein 2",
                    "type": "synonym"
                },
                {
                    "name": "regulator of G-protein signalling 19 interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "tax interaction protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GIPC1",
                    "type": "recommended"
                },
                {
                    "name": "C19orf3",
                    "type": "synonym"
                },
                {
                    "name": "GIPC1",
                    "type": "synonym"
                },
                {
                    "name": "GIPC",
                    "type": "synonym"
                },
                {
                    "name": "GLUT1CBP",
                    "type": "synonym"
                },
                {
                    "name": "Hs.6454",
                    "type": "synonym"
                },
                {
                    "name": "IIP-1",
                    "type": "synonym"
                },
                {
                    "name": "NIP",
                    "type": "synonym"
                },
                {
                    "name": "OPDM2",
                    "type": "synonym"
                },
                {
                    "name": "RGS19IP1",
                    "type": "synonym"
                },
                {
                    "name": "SEMCAP",
                    "type": "synonym"
                },
                {
                    "name": "SYNECTIIN",
                    "type": "synonym"
                },
                {
                    "name": "SYNECTIN",
                    "type": "synonym"
                },
                {
                    "name": "TIP-2",
                    "type": "synonym"
                }
            ],
            "record_id": "O14908-1",
            "evidence": [
                {
                    "id": "618940",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618940"
                },
                {
                    "id": "0081298",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081298"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z254-1",
            "uniprot_ac": "Q9Z254",
            "uniprot_id": "GIPC1_RAT",
            "refseq_ac": "NP_445793",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "PDZ domain-containing protein GIPC1",
                    "type": "recommended"
                },
                {
                    "name": "GAIP C-terminus-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "GLUT1 C-terminal-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "GLUT1CBP",
                    "type": "synonym"
                },
                {
                    "name": "PDZ domain-containing protein GIPC1",
                    "type": "synonym"
                },
                {
                    "name": "RGS-GAIP interacting protein, C-terminus",
                    "type": "synonym"
                },
                {
                    "name": "RGS-GAIP-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "RGS19-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Synectin",
                    "type": "synonym"
                },
                {
                    "name": "regulator of G-protein signaling 19 interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "synectin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gipc1",
                    "type": "recommended"
                },
                {
                    "name": "Gipc1",
                    "type": "synonym"
                },
                {
                    "name": "Gipc",
                    "type": "synonym"
                },
                {
                    "name": "Rgs19ip1",
                    "type": "synonym"
                },
                {
                    "name": "Rgs19",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z254-1",
            "evidence": [
                {
                    "id": "0081298",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081298"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081298"
}