{ "uniprot_canonical_ac": "A0A0G2K7K3-1", "uniprot_ac": "A0A0G2K7K3", "uniprot_id": "A0A0G2K7K3_RAT", "mass": { "chemical_mass": 73733.0, "monoisotopic_mass": 73733.0 }, "refseq": {}, "gene_names": [ { "name": "Six5", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A0G2K7K3", "id": "A0A0G2K7K3" } ], "protein_names": [ { "name": "SIX homeobox 5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0A0G2K7K3" } ], "function": [], "disease": [ { "disease_id": "DOID:0111424", "recommended_name": { "id": "DOID:0111424", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111424", "name": "branchiootorenal syndrome 2", "description": "A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the SIX5 gene on chromosome 19q13.32." }, "synonyms": [ { "id": "DOID:0111424", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111424", "name": "BOR2", "description": "" 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"MONDO:0012575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012575", "name": "BOR2", "description": "" }, { "id": "MIM:610896", "resource": "MIM", "url": "https://www.omim.org/entry/610896", "name": "Branchiootorenal syndrome 2", "description": "Branchiootorenal syndrome 2" } ], "evidence": [ { "id": "0111424", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111424" } ] }, { "disease_id": "DOID:11722", "recommended_name": { "id": "DOID:11722", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11722", "name": "myotonic dystrophy type 1", "description": "A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region." }, "synonyms": [ { "id": "DOID:11722", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11722", "name": "Dystrophia myotonica", "description": "" }, { "id": "DOID:11722", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11722", "name": "Steinert disease", "description": "" }, { "id": "DOID:11722", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11722", "name": "congenital myotonic dystrophy", "description": "" }, { "id": "DOID:11722", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11722", "name": "myotonic dystrophy of Steinert", "description": "" }, { "id": "MONDO:0008056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008056", "name": "myotonic dystrophy type 1", "description": "Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage 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