{
    "disease_id": "DOID:0110484",
    "recommended_name": {
        "id": "DOID:0110484",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110484",
        "name": "autosomal recessive nonsyndromic deafness 26",
        "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the GAB1 gene on chromosome 4q31."
    },
    "synonyms": [
        {
            "id": "DOID:0110484",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110484",
            "name": "DFNB26",
            "description": ""
        },
        {
            "id": "DOID:0110484",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110484",
            "name": "autosomal recessive deafness 26",
            "description": ""
        },
        {
            "id": "MONDO:0011553",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011553",
            "name": "autosomal recessive nonsyndromic hearing loss 26",
            "description": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q31."
        },
        {
            "id": "MONDO:0011553",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011553",
            "name": "DFNB26",
            "description": ""
        },
        {
            "id": "MONDO:0011553",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011553",
            "name": "autosomal recessive deafness 26",
            "description": ""
        },
        {
            "id": "MONDO:0011553",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011553",
            "name": "autosomal recessive nonsyndromic deafness 26",
            "description": ""
        },
        {
            "id": "MONDO:0011553",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011553",
            "name": "autosomal recessive nonsyndromic deafness type 26",
            "description": ""
        },
        {
            "id": "MONDO:0011553",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011553",
            "name": "deafness, autosomal recessive 26",
            "description": ""
        },
        {
            "id": "MIM:605428",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605428",
            "name": "Deafness, autosomal recessive, 26",
            "description": "Deafness, autosomal recessive, 26"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110484"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110484",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110484",
            "categories": []
        },
        {
            "id": "MONDO:0011553",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011553",
            "categories": []
        },
        {
            "id": "MIM:605428",
            "database": "MIM",
            "url": "https://www.omim.org/entry/605428",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M6YUV9-1",
            "uniprot_ac": "A0A8M6YUV9",
            "uniprot_id": "A0A8M6YUV9_DANRE",
            "refseq_ac": "XP_017208591",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "GRB2-associated-binding protein 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gab1",
                    "type": "recommended"
                },
                {
                    "name": "fb11b01",
                    "type": "synonym"
                },
                {
                    "name": "fc66d01",
                    "type": "synonym"
                },
                {
                    "name": "gab1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb11b01",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc66d01",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56412",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M6YUV9-1",
            "evidence": [
                {
                    "id": "0110484",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110484"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QYY0-1",
            "uniprot_ac": "Q9QYY0",
            "uniprot_id": "GAB1_MOUSE",
            "refseq_ac": "NP_067331",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "GRB2-associated-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "GRB2-associated binder 1",
                    "type": "synonym"
                },
                {
                    "name": "GRB2-associated-binding protein 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "GRB2-associated-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Growth factor receptor bound protein 2-associated protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gab1",
                    "type": "recommended"
                },
                {
                    "name": "Gab1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QYY0-1",
            "evidence": [
                {
                    "id": "0110484",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110484"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13480-1",
            "uniprot_ac": "Q13480",
            "uniprot_id": "GAB1_HUMAN",
            "refseq_ac": "NP_002030",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "GRB2-associated-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "GRB2-associated binder 1",
                    "type": "synonym"
                },
                {
                    "name": "GRB2-associated-binding protein 1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "Growth factor receptor bound protein 2-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "deafness, autosomal recessive 26",
                    "type": "synonym"
                },
                {
                    "name": "growth factor receptor bound protein 2-associated protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GAB1",
                    "type": "recommended"
                },
                {
                    "name": "DFNB26",
                    "type": "synonym"
                },
                {
                    "name": "GAB1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13480-1",
            "evidence": [
                {
                    "id": "605428",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/605428"
                },
                {
                    "id": "0110484",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110484"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZAL7-1",
            "uniprot_ac": "D3ZAL7",
            "uniprot_id": "D3ZAL7_RAT",
            "refseq_ac": "XP_038953749",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "GRB2-associated binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "GRB2-associated-binding protein 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gab1",
                    "type": "recommended"
                },
                {
                    "name": "Gab1",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZAL7-1",
            "evidence": [
                {
                    "id": "0110484",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110484"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VZZ9-1",
            "uniprot_ac": "Q9VZZ9",
            "uniprot_id": "DOS_DROME",
            "refseq_ac": "NP_523890",
            "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 daughter of sevenless",
                    "type": "recommended"
                },
                {
                    "name": "CG1044-PA",
                    "type": "synonym"
                },
                {
                    "name": "daughter of sevenless, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "daughter of sevenless",
                    "type": "synonym"
                },
                {
                    "name": "dos-PA",
                    "type": "synonym"
                },
                {
                    "name": "enhancer of corkscrew-CS",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of sevenless-S11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dos",
                    "type": "recommended"
                },
                {
                    "name": "141511_at",
                    "type": "synonym"
                },
                {
                    "name": "CG1044",
                    "type": "synonym"
                },
                {
                    "name": "DOS",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1044",
                    "type": "synonym"
                },
                {
                    "name": "Dos",
                    "type": "synonym"
                },
                {
                    "name": "E(csw)3A",
                    "type": "synonym"
                },
                {
                    "name": "E(csw[CS])3A",
                    "type": "synonym"
                },
                {
                    "name": "EC3-4",
                    "type": "synonym"
                },
                {
                    "name": "Gab-1",
                    "type": "synonym"
                },
                {
                    "name": "Su(sev)3A",
                    "type": "synonym"
                },
                {
                    "name": "Su(sev[S11])3A",
                    "type": "synonym"
                },
                {
                    "name": "dos",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VZZ9-1",
            "evidence": [
                {
                    "id": "0110484",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110484"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110484"
}