{ "uniprot_canonical_ac": "A0A6H2EG63-1", "uniprot_ac": "A0A6H2EG63", "uniprot_id": "A0A6H2EG63_DROME", "mass": { "chemical_mass": 71343.0, "monoisotopic_mass": 71343.0 }, "refseq": { "ac": "NP_524638", "name": "twin of eyeless, isoform A", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_524638" }, "gene_names": [ { "name": "toy", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A6H2EG63", "id": "A0A6H2EG63" }, { "name": "CG11186; Dmel\\CG11186; l(4)102CDg; l(4)8; Pax-6; Toy; TOY", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001259080", "id": "NP_001259080" }, { "name": "CG11186", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A6H2EG63", "id": "A0A6H2EG63" }, { "name": "Dmel\\CG11186", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A6H2EG63", "id": "A0A6H2EG63" }, { "name": "Dmel_CG11186", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A6H2EG63", "id": "A0A6H2EG63" }, { "name": "Pax-6", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A6H2EG63", "id": "A0A6H2EG63" }, { "name": "TOY", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A6H2EG63", "id": "A0A6H2EG63" }, { "name": "Toy", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A6H2EG63", "id": "A0A6H2EG63" }, { "name": "l(4)102CDg", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A6H2EG63", "id": "A0A6H2EG63" }, { "name": "l(4)8", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A6H2EG63", "id": "A0A6H2EG63" }, { "name": "toy", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001259080", "id": "NP_001259080" } ], "protein_names": [ { "name": "CG11186-PA; toy-PA; twin-of-eyeless; twin of eyeless; lethal(4)102CDg", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_524638", "id": "NP_524638" }, { "name": "CG11186-PC; toy-PC; twin-of-eyeless; twin of eyeless; lethal(4)102CDg", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001259080", "id": "NP_001259080" }, { "name": "Twin of eyeless, isoform D", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0A6H2EG63" }, { "name": "twin of eyeless, isoform A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_524638", "id": "NP_524638" }, { "name": "twin of eyeless, isoform C", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001259080", "id": "NP_001259080" } ], "function": [], "disease": [ { "disease_id": "DOID:0060673", "recommended_name": { "id": "DOID:0060673", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060673", "name": "Peters anomaly", "description": "A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3." }, "synonyms": [], "evidence": [ { "id": "0060673", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060673" } ] }, { "disease_id": "DOID:0080610", "recommended_name": { "id": "DOID:0080610", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080610", "name": "anterior segment dysgenesis 5", "description": "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13." }, "synonyms": [ { "id": "MONDO:0011414", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011414", "name": "Peters anomaly", "description": "Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane." }, { "id": "MONDO:0011414", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011414", "name": "Peters anomaly", "description": "" }, { "id": "MONDO:0011414", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011414", "name": "Peters anomaly (disease)", "description": "" }, { "id": "MONDO:0011414", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011414", "name": "Peters congenital glaucoma", "description": "" }, { "id": "MONDO:0011414", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011414", "name": "anterior segment dysgenesis 5, multiple subtypes", "description": "" }, { "id": "MONDO:0011414", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011414", "name": "ASGD5", "description": "" }, { "id": "MONDO:0011414", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011414", "name": "anterior segment dysgenesis 5", "description": "" }, { "id": "MIM:604229", "resource": "MIM", "url": "https://www.omim.org/entry/604229", "name": "Anterior segment dysgenesis 5", "description": "Anterior segment dysgenesis 5" } ], "evidence": [ { "id": "0080610", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080610" } ] }, { "disease_id": "DOID:0110233", "recommended_name": { "id": "DOID:0110233", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110233", "name": "cataract 27", "description": "A cataract that has_material_basis_in mutation in the region 2p12." }, "synonyms": [ { "id": "DOID:0110233", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110233", "name": "CTRCT27", "description": "" }, { "id": "DOID:0110233", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110233", "name": "cataract 27 nuclear progressive", "description": "" }, { "id": "MONDO:0011808", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011808", "name": "cataract 27", "description": "A cataract that has material basis in mutation in the region 2p12." }, { "id": "MONDO:0011808", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011808", "name": "CTRCT27", "description": "" }, { "id": "MONDO:0011808", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011808", "name": "cataract 27", "description": "" }, { "id": "MONDO:0011808", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011808", "name": "cataract 27 nuclear progressive", "description": "" }, { "id": "MONDO:0011808", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011808", "name": "cataract type 27", "description": "" }, { "id": "MONDO:0011808", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011808", "name": "Ccnp", "description": "" }, { "id": "MONDO:0011808", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011808", "name": "cataract 27, nuclear progressive", "description": "" } ], "evidence": [ { "id": "0110233", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110233" } ] }, { "disease_id": "DOID:0111383", "recommended_name": { "id": "DOID:0111383", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111383", "name": "autosomal dominant keratitis", "description": "A keratitis characterized by corneal opacification and vascularization and foveal hypoplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13." }, "synonyms": [ { "id": "DOID:0111383", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111383", "name": "hereditary keratitis", "description": "" }, { "id": "MONDO:0007848", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007848", "name": "autosomal dominant keratitis", "description": "Hereditary keratitis is characterized by opacification and vascularisation of the cornea, often associated with macula hypoplasia." }, { "id": "MONDO:0007848", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007848", "name": "hereditary keratitis", "description": "" }, { "id": "MONDO:0007848", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007848", "name": "keratitis, autosomal dominant", "description": "" }, { "id": "MONDO:0007848", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007848", "name": "dominantly inherited keratitis", "description": "" }, { "id": "MONDO:0007848", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007848", "name": "keratitis, hereditary", "description": "" }, { "id": "MIM:148190", "resource": "MIM", "url": "https://www.omim.org/entry/148190", "name": "Keratitis hereditary", "description": "Keratitis hereditary" } ], "evidence": [ { "id": "0111383", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111383" } ] }, { "disease_id": "DOID:0111531", "recommended_name": { "id": "DOID:0111531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111531", "name": "bilateral optic nerve hypoplasia", "description": "An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13." }, "synonyms": [ { "id": "DOID:0111531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111531", "name": "ONH", "description": "" }, { "id": "DOID:0111531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111531", "name": "familial bilateral optic nerve hypoplasia", "description": "" }, { "id": "DOID:0111531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111531", "name": "isolated optic nerve hypoplasia/aplasia", "description": "" }, { "id": "MONDO:0008136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008136", "name": "isolated optic nerve hypoplasia", "description": "" }, { "id": "MONDO:0008136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008136", "name": "familial bilateral optic nerve hypoplasia", "description": "" }, { "id": "MONDO:0008136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008136", "name": "isolated optic nerve hypoplasia/aplasia", "description": "" }, { "id": "MONDO:0008136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008136", "name": "optic nerve aplasia, bilateral", "description": "" }, { "id": "MONDO:0008136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008136", "name": "optic nerve hypoplasia", "description": "" }, { "id": "MONDO:0008136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008136", "name": "optic nerve hypoplasia, bilateral", "description": "" }, { "id": "MONDO:0008136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008136", "name": "optic nerve hypoplasia, familial bilateral", "description": "" }, { "id": "MIM:165550", "resource": "MIM", "url": "https://www.omim.org/entry/165550", "name": "Bilateral optic nerve hypoplasia", "description": "Bilateral optic nerve hypoplasia" } ], "evidence": [ { "id": "0111531", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111531" } ] }, { "disease_id": "DOID:10603", "recommended_name": { "id": "DOID:10603", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10603", "name": "glucose intolerance", "description": "" }, "synonyms": [ { "id": "DOID:10603", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10603", "name": "Malabsorption of glucose", "description": "" }, { "id": "DOID:10603", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10603", "name": "Glucose malabsorption", "description": "" } ], "evidence": [ { "id": "10603", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10603" } ] }, { "disease_id": "DOID:10629", "recommended_name": { "id": "DOID:10629", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10629", "name": "microphthalmia", "description": "An eye disease where one or both eyeballs are abnormally small." }, "synonyms": [ { "id": "DOID:10629", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10629", "name": "microphthalmos", "description": "" }, { "id": "DOID:10629", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10629", "name": "simple microphthalmos", "description": "" } ], "evidence": [ { "id": "10629", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10629" } ] }, { "disease_id": "DOID:1068", "recommended_name": { "id": "DOID:1068", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1068", "name": "juvenile glaucoma", "description": "A primary open angle glaucoma early age of onset, rapidly progressive with more severely elevated and fluctuating intraocular pressures." }, "synonyms": [ { "id": "DOID:1068", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1068", "name": "Glaucoma of childhood", "description": "" }, { "id": "MONDO:0007664", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007664", "name": "glaucoma 1, open angle, A", "description": "Any juvenile glaucoma in which the cause of the disease is a mutation in the MYOC gene." }, { "id": "MONDO:0007664", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007664", "name": "JOAG1", "description": "" }, { "id": "MONDO:0007664", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007664", "name": "JOAG1A", "description": "" }, { "id": "MONDO:0007664", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007664", "name": "MYOC juvenile glaucoma", "description": "" }, { "id": "MONDO:0007664", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007664", "name": "MYOC juvenile open angle glaucoma", "description": "" }, { "id": "MONDO:0007664", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007664", "name": "glaucoma 1, open angle, A", "description": "" }, { "id": "MONDO:0007664", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007664", "name": "glaucoma 1, open angle, type A", "description": "" }, { "id": "MONDO:0007664", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007664", "name": "glaucoma 1A, primary open angle", "description": "" }, { "id": "MONDO:0007664", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007664", "name": "juvenile glaucoma caused by mutation in MYOC", "description": "" }, { "id": "MONDO:0007664", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007664", "name": "juvenile open angle glaucoma caused by mutation in MYOC", "description": "" }, { "id": "MONDO:0007664", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007664", "name": "GLC1A", "description": "" }, { "id": "MONDO:0007664", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007664", "name": "glaucoma 1, open angle, 50", "description": "" }, { "id": "MONDO:0007664", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007664", "name": "glaucoma hereditary, juvenile", "description": "" }, { "id": "MONDO:0007664", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007664", "name": "glaucoma, primary open angle, juvenile-onset, 1", "description": "" }, { "id": "MONDO:0007664", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007664", "name": "primary open angle glaucoma juvenile onset 1", "description": "" }, { "id": "MIM:137750", "resource": "MIM", "url": "https://www.omim.org/entry/137750", "name": "Glaucoma 1, open angle, A", "description": "Glaucoma 1, open angle, A" } ], "evidence": [ { "id": "1068", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1068" } ] }, { "disease_id": "DOID:11975", "recommended_name": { "id": "DOID:11975", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11975", "name": "coloboma of optic nerve", "description": "" }, "synonyms": [ { "id": "DOID:11975", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11975", "name": "Coloboma of optic disc", "description": "" }, { "id": "DOID:11975", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11975", "name": "Morning glory syndrome", "description": "" }, { "id": "MONDO:0007354", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007354", "name": "coloboma of optic nerve", "description": "" }, { "id": "MONDO:0007354", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007354", "name": "coloboma of optic nerve (disease)", "description": "" }, { "id": "MONDO:0007354", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007354", "name": "coloboma of optic papilla", "description": "" }, { "id": "MONDO:0007354", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007354", "name": "optic nerve coloboma", "description": "" }, { "id": "MONDO:0007354", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007354", "name": "congenital coloboma of the optic nerve", "description": "" }, { "id": "MONDO:0007354", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007354", "name": "coloboma of optic disc", "description": "" }, { "id": "MONDO:0007354", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007354", "name": "morning glory Disc anomaly", "description": "" }, { "id": "MONDO:0007354", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007354", "name": "optic nerve head pits, bilateral congenital", "description": "" }, { "id": "MIM:120430", "resource": "MIM", "url": "https://www.omim.org/entry/120430", "name": "Coloboma of optic nerve", "description": "Coloboma of optic nerve" } ], "evidence": [ { "id": "11975", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11975" } ] }, { "disease_id": "DOID:12270", "recommended_name": { "id": "DOID:12270", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12270", "name": "coloboma", "description": "An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc." }, "synonyms": [ { "id": "DOID:12270", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12270", "name": "coloboma of eye", "description": "" }, { "id": "DOID:12270", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12270", "name": "coloboma of macula", "description": "" }, { "id": "DOID:12270", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12270", "name": "congenital ocular coloboma", "description": "" }, { "id": "MONDO:0007350", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007350", "name": "coloboma, ocular, autosomal dominant", "description": "" }, { "id": "MONDO:0007350", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007350", "name": "coloboma, ocular", "description": "" }, { "id": "MONDO:0007350", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007350", "name": "coloboma, ocular, autosomal dominant", "description": "" }, { "id": "MONDO:0007350", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007350", "name": "coloboma of iris, choroid, and retina", "description": "" }, { "id": "MONDO:0007350", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007350", "name": "coloboma, Uveoretinal", "description": "" }, { "id": "MONDO:0007351", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007351", "name": "coloboma of macula", "description": "Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders." }, { "id": "MONDO:0007351", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007351", "name": "coloboma of macula", "description": "" }, { "id": "MONDO:0007351", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007351", "name": "agenesis of macula", "description": "" }, { "id": "MONDO:0007351", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007351", "name": "hereditary macular coloboma (subtype)", "description": "" }, { "id": "MONDO:0007351", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007351", "name": "macular coloboma", "description": "" }, { "id": "MONDO:0009002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009002", "name": "coloboma, ocular, autosomal recessive", "description": "" }, { "id": "MONDO:0009002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009002", "name": "coloboma, ocular, autosomal recessive", "description": "" }, { "id": "MIM:120200", "resource": "MIM", "url": "https://www.omim.org/entry/120200", "name": "Coloboma, ocular, autosomal dominant", "description": "Coloboma, ocular, autosomal dominant" }, { "id": "MIM:216820", "resource": "MIM", "url": "https://www.omim.org/entry/216820", "name": "Coloboma, ocular, autosomal recessive", "description": "Coloboma, ocular, autosomal recessive" } ], "evidence": [ { "id": "12270", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12270" } ] }, { "disease_id": "DOID:12271", "recommended_name": { "id": "DOID:12271", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12271", "name": "aniridia", "description": "An iris disease that is characterized by a complete or partial absence of the colored part of the eye." }, "synonyms": [ { "id": "DOID:12271", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12271", "name": "Aplasia of iris", "description": "" }, { "id": "MONDO:0024507", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024507", "name": "aniridia 1", "description": "" }, { "id": "MONDO:0024507", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024507", "name": "aniridia", "description": "" }, { "id": "MONDO:0024507", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024507", "name": "AN1", "description": "" }, { "id": "MONDO:0024507", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024507", "name": "aniridia 1", "description": "" }, { "id": "MONDO:0024507", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024507", "name": "cataract with late-onset corneal dystrophy", "description": "" }, { "id": "MONDO:0024507", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024507", "name": "aniridia II", "description": "" }, { "id": "MONDO:0024507", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024507", "name": "aniridia II, formerly", "description": "" }, { "id": "MONDO:0024507", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024507", "name": "cataract, congenital, with late-onset corneal dystrophy", "description": "" }, { "id": "MIM:106210", "resource": "MIM", "url": "https://www.omim.org/entry/106210", "name": "Aniridia 1", "description": "Aniridia 1" } ], "evidence": [ { "id": "12271", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12271" } ] }, { "disease_id": "DOID:1229", "recommended_name": { "id": "DOID:1229", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1229", "name": "paranoid schizophrenia", "description": "A schizophrenia characterized by delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening." }, "synonyms": [ { "id": "DOID:1229", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1229", "name": "Paranoid type schizophrenia", "description": "" }, { "id": "DOID:1229", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1229", "name": "Paraphrenia - late", "description": "" }, { "id": "DOID:1229", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1229", "name": "Paraphrenic schizophrenia", "description": "" }, { "id": "DOID:1229", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1229", "name": "chronic paranoid schizophrenia", "description": "" }, { "id": "DOID:1229", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1229", "name": "paranoid type schizophrenia subchronic state", "description": "" } ], "evidence": [ { "id": "1229", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1229" } ] }, { "disease_id": "DOID:12849", "recommended_name": { "id": "DOID:12849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12849", "name": "autistic disorder", "description": "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years." }, "synonyms": [ { "id": "DOID:12849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12849", "name": "Kanner's syndrome", "description": "" }, { "id": "DOID:12849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12849", "name": "autism", "description": "" }, { "id": "DOID:12849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12849", "name": "autistic disorder of childhood onset", "description": "" }, { "id": "DOID:12849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12849", "name": "childhood autism", "description": "" }, { "id": "DOID:12849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12849", "name": "infantile autism", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autism", "description": "Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior." }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autism spectrum disorder", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "Kanner's syndrome", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autism", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autism (disease)", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autistic disorder of childhood onset", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "childhood autism", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "infantile autism", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autism, susceptiblity to", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autistic disorder", "description": "" } ], "evidence": [ { "id": "12849", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12849" } ] }, { "disease_id": "DOID:14692", "recommended_name": { "id": "DOID:14692", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14692", "name": "Smith-Lemli-Opitz syndrome", "description": "" }, "synonyms": [ { "id": "DOID:14692", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14692", "name": "Smith-Opitz-Inborn syndrome", "description": "" }, { "id": "DOID:14692", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14692", "name": "Rutledge lethal multiple congenital anomaly syndrome", "description": "" }, { "id": "MONDO:0010035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010035", "name": "Smith-Lemli-Opitz syndrome", "description": "Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems." }, { "id": "MONDO:0010035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010035", "name": "7-dehydrocholesterol reductase deficiency", "description": "" }, { "id": "MONDO:0010035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010035", "name": "RSH syndrome", "description": "" }, { "id": "MONDO:0010035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010035", "name": "Rutledge lethal multiple congenital anomaly syndrome", "description": "" }, { "id": "MONDO:0010035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010035", "name": "SLO syndrome", "description": "" }, { "id": "MONDO:0010035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010035", "name": "SLOS", "description": "" }, { "id": "MONDO:0010035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010035", "name": "Smith-Lemli-Opitz syndrome", "description": "" }, { "id": "MONDO:0010035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010035", "name": "Smith-Opitz-inborn syndrome", "description": "" }, { "id": "MONDO:0010035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010035", "name": "Smith Lemli Opitz syndrome", "description": "" }, { "id": "MONDO:0010035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010035", "name": "lethal acrodysgenital syndrome", "description": "" }, { "id": "MONDO:0010035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010035", "name": "polydactyly, sex reversal, renal hypoplasia, and unilobar lung", "description": "" }, { "id": "MONDO:0010035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010035", "name": "polydactyly, sex reversal, renal hypoplasia, and unilobular lung", "description": "" }, { "id": "MIM:270400", "resource": "MIM", "url": "https://www.omim.org/entry/270400", "name": "Smith-Lemli-Opitz syndrome", "description": "Smith-Lemli-Opitz syndrome" } ], "evidence": [ { "id": "14692", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14692" } ] }, { "disease_id": "DOID:224", "recommended_name": { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death." }, "synonyms": [ { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "TIA", "description": "" }, { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "TIA - Transient ischaemic attack", "description": "" }, { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "Transient cerebral ischaemia", "description": "" }, { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "Transient ischemic attacks", "description": "" }, { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "transient ischemic attack", "description": "" } ], "evidence": [ { "id": "224", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:224" } ] }, { "disease_id": "DOID:3587", "recommended_name": { "id": "DOID:3587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct." }, "synonyms": [ { "id": "DOID:3587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3587", "name": "malignant neoplasm of duct of Wirsung", "description": "" }, { "id": "DOID:3587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3587", "name": "pancreatic duct cancer", "description": "" } ], "evidence": [ { "id": "3587", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ] }, { "disease_id": "DOID:83", "recommended_name": { "id": "DOID:83", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision." }, "synonyms": [ { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "cataract 1 multiple types", "description": "Any cataract (disease) in which the cause of the disease is a mutation in the GJA8 gene." }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "CTRCT1", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "Duffy linked cataract", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "GJA8 cataract (disease)", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "cataract (disease) caused by mutation in GJA8", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "cataract 1, multiple types, with or without microcornea", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "CAE1", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "CZP1", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "zonular pulverulent cataract 1", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "cataract 1, multiple types", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "cataract, Duffy-linked", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "cataract, zonular pulverulent, 1", "description": "" }, { "id": "MONDO:0011060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011060", "name": "early-onset non-syndromic cataract", "description": "Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected." }, { "id": "MONDO:0011060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011060", "name": "cataract, age-related nuclear", "description": "" }, { "id": "MONDO:0011060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011060", "name": "nuclear sclerosis of the lens", "description": "" }, { "id": "MIM:116200", "resource": "MIM", "url": "https://www.omim.org/entry/116200", "name": "Cataract 1, multiple types", "description": "Cataract 1, multiple types" } ], "evidence": [ { "id": "83", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:83" } ] }, { "disease_id": "DOID:9649", "recommended_name": { "id": "DOID:9649", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9649", "name": "congenital nystagmus", "description": "A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction." }, "synonyms": [ { "id": "MONDO:0010693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010693", "name": "nystagmus 1, congenital, X-linked", "description": "Any congenital nystagmus in which the cause of the disease is a mutation in the FRMD7 gene." }, { "id": "MONDO:0010693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010693", "name": "FRMD7 congenital nystagmus", "description": "" }, { "id": "MONDO:0010693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010693", "name": "congenital nystagmus caused by mutation in FRMD7", "description": "" }, { "id": "MONDO:0010693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010693", "name": "nystagmus 1, congenital, X-linked", "description": "" }, { "id": "MONDO:0010693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010693", "name": "NYS1", "description": "" }, { "id": "MONDO:0010693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010693", "name": "NYSTAGMUS 1, congenital, X-linked", "description": "" }, { "id": "MONDO:0010693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010693", "name": "Nystagmus 1, congenital, X- linked", "description": "" }, { "id": "MONDO:0010693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010693", "name": "Nystagmus 1, infantile, X-linked", "description": "" }, { "id": "MONDO:0010693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010693", "name": "Nystagmus, congenital motor, 1", "description": "" }, { "id": "MONDO:0010693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010693", "name": "Nystagmus, infantile idiopathic", "description": "" }, { "id": "MONDO:0010693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010693", "name": "Nystagmus, infantile idiopathic, formerly", "description": "" }, { "id": "MONDO:0010693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010693", "name": "Nystagmus, infantile periodic alternating, X-linked", "description": "" }, { "id": "MONDO:0010693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010693", "name": "Xlpan", "description": "" }, { "id": "MIM:310700", "resource": "MIM", "url": "https://www.omim.org/entry/310700", "name": "Nystagmus 1, congenital, X-linked", "description": "Nystagmus 1, congenital, X-linked" } ], "evidence": [ { "id": "9649", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9649" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A6H2EG63", "url": "https://www.uniprot.org/uniprot/A0A6H2EG63" } ], "common_name": "Fruit fly" } ], "gene": [ { "name": "toy", "url": "https://www.uniprot.org/uniprot/A0A6H2EG63", "locus": { "chromosome": "4", "start_pos": 1007922, "end_pos": 989725, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "FBgn0019650", "url": "https://www.ensembl.org/id/FBgn0019650" } ] } } ], "crossref": [ { "id": "FBgn0019650", "url": "https://bgee.org/?page=gene&gene_id=FBgn0019650", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd00086", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00086", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd00131", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00131", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "FBgn0019650", "url": "https://flybase.org/reports/FBgn0019650", "database": "FlyBase", "categories": [ "Organism-specific" ] }, { "id": "43833", "url": "https://www.ncbi.nlm.nih.gov/gene/43833", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "A0A6H2EG63", "url": "https://www.ebi.ac.uk/intact/interactors/id:A0A6H2EG63*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "Q9V490", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q9V490*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001356", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001356", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001523", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001523", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR009057", "url": "https://www.ebi.ac.uk/interpro/entry/IPR009057", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017970", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017970", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036388", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036388", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR043182", "url": "https://www.ebi.ac.uk/interpro/entry/IPR043182", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR043565", "url": "https://www.ebi.ac.uk/interpro/entry/IPR043565", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "dme:Dmel_CG11186", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG11186", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "TGNYWPR", "url": "https://omabrowser.org/oma/group/TGNYWPR/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5398393at2759", "url": "http://www.orthodb.org/?query=5398393at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR45636", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45636", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45636:SF41", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45636:SF41", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00046", "url": "http://pfam.xfam.org/family/PF00046", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00292", "url": "http://pfam.xfam.org/family/PF00292", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "A0A6H2EG63", "url": "https://www.uniprot.org/uniprot/A0A6H2EG63", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6H2EG63-1", "url": "https://www.uniprot.org/uniprot/A0A6H2EG63-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "L0MPR7", "url": "https://www.uniprot.org/uniprot/L0MPR7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "L0MPR7-1", "url": "https://www.uniprot.org/uniprot/L0MPR7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9V490", "url": "https://www.uniprot.org/uniprot/Q9V490", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9V490-1", "url": "https://www.uniprot.org/uniprot/Q9V490-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MMLTTEHIMHGHPHSSVGQSTLFGCSTAGHSGINQLGGVYVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIKPRAIGGSKPRVATTPVVQKIADYKRECPSIFAWEIRDRLLSEQVCNSDNIPSVSSINRVLRNLASQKEQQAQQQNESVYEKLRMFNGQTGGWAWYPSNTTTAHLTLPPAASVVTSPANLSGQADRDDVQKRELQFSVEVSHTNSHDSTSDGNSEHNSSGDEDSQMRLRLKRKLQRNRTSFSNEQIDSLEKEFERTHYPDVFARERLADKIGLPEARIQVWFSNRRAKWRREEKMRTQRRSADTVDGSGRTSTANNPSGTTASSSVATSNNSTPGIVNSAINVAERTSSALVSNSLPEASNGPTVLGGEANTTHTSSESPPLQPAAPRLPLNSGFNTMYSSIPQPIATMAENYNSSLGSMTPSCLQQRDAYPYMFHDPLSLGSPYVSAHHRNTACNPSAAHQQPPQHGVYTNSSPMPSSNTGVISAGVSVPVQISTQNVSDLTGSNYWPRLQXSSIFGSPLDHLSKATAAAIIAAQAAEKSHKHRKEHSIVSIHTTKRKKNPPSLKRQTTCCSSRYLNMTFGAGKDVDVVIGQGLIVSLTPHISGKPELFGSPNVNYHQDFQVI", "length": 655, "header": "tr|A0A6H2EG63-1|A0A6H2EG63_DROME Isoform 1 of Twin of eyeless, isoform D OS=Drosophila melanogaster OX=7227 GN=toy PE=3 SV=1 CANONICAL=A0A6H2EG63-1" }, "isoforms": [ { "isoform_ac": "A0A6H2EG63-1", "url": "", "sequence": { "sequence": "MMLTTEHIMHGHPHSSVGQSTLFGCSTAGHSGINQLGGVYVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIKPRAIGGSKPRVATTPVVQKIADYKRECPSIFAWEIRDRLLSEQVCNSDNIPSVSSINRVLRNLASQKEQQAQQQNESVYEKLRMFNGQTGGWAWYPSNTTTAHLTLPPAASVVTSPANLSGQADRDDVQKRELQFSVEVSHTNSHDSTSDGNSEHNSSGDEDSQMRLRLKRKLQRNRTSFSNEQIDSLEKEFERTHYPDVFARERLADKIGLPEARIQVWFSNRRAKWRREEKMRTQRRSADTVDGSGRTSTANNPSGTTASSSVATSNNSTPGIVNSAINVAERTSSALVSNSLPEASNGPTVLGGEANTTHTSSESPPLQPAAPRLPLNSGFNTMYSSIPQPIATMAENYNSSLGSMTPSCLQQRDAYPYMFHDPLSLGSPYVSAHHRNTACNPSAAHQQPPQHGVYTNSSPMPSSNTGVISAGVSVPVQISTQNVSDLTGSNYWPRLQXSSIFGSPLDHLSKATAAAIIAAQAAEKSHKHRKEHSIVSIHTTKRKKNPPSLKRQTTCCSSRYLNMTFGAGKDVDVVIGQGLIVSLTPHISGKPELFGSPNVNYHQDFQVI", "length": 655, "header": "tr|A0A6H2EG63-1|A0A6H2EG63_DROME Isoform 1 of Twin of eyeless, isoform D OS=Drosophila melanogaster OX=7227 GN=toy PE=3 SV=1 CANONICAL=A0A6H2EG63-1" }, "locus": { "chromosome": "4", "start_pos": 1006493, "end_pos": 990252, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0479793", "url": "https://www.ensembl.org/id/FBtr0479793" }, { "database": "Ensembl Peptide", "id": "FBpp0428126", "url": "https://www.ensembl.org/id/FBpp0428126" } ] } }, { "isoform_ac": "L0MPR7-1", "url": "", "sequence": { "sequence": "MMLTTEHIMHGHPHSSVGQSTLFGCSTAGHSGINQLGGVYVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIKPRAIGGSKPRVATTPVVQKIADYKRECPSIFAWEIRDRLLSEQVCNSDNIPSVSSINRVLRNLASQKEQQAQQQNESVYEKLRMFNGQTGGWAWYPSNTTTAHLTLPPAASVVTSPANLSGQADRDDVQKRELQFSVEVSHTNSHDSTSDGNSEHNSSGDEDSQMRLRLKRKLQRNRTSFSNEQIDSLEKEFERTHYPDVFARERLADKIGLPEVWFSNRRAKWRREEKMRTQRRSADTVDGSGRTSTANNPSGTTASSSVATSNNSTPGIVNSAINVAERTSSALVLGGEANTTHTSSESPPLQPAAPRLPLNSGFNTMYSSIPQPIATMAENYNSSLGSMTPSCLQQRDAYPYMFHDPLSLGSPYVSAHHRNTACNPSAAHQQPPQHGVYTNSSPMPSSNTGVISAGVSVPVQISTQNVSDLTGSNYWPRLQ", "length": 526, "header": "tr|L0MPR7-1|A0A6H2EG63_DROME Computationally mapped isoform of Twin of eyeless, isoform D OS=Drosophila melanogaster OX=7227 GN=toy PE=3 SV=1 CANONICAL=A0A6H2EG63-1" }, "locus": { "chromosome": "4", "start_pos": 1006157, "end_pos": 990252, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0339509", "url": "https://www.ensembl.org/id/FBtr0339509" }, { "database": "Ensembl Peptide", "id": "FBpp0308592", "url": "https://www.ensembl.org/id/FBpp0308592" } ] } }, { "isoform_ac": "Q9V490-1", "url": "", "sequence": { "sequence": "MMLTTEHIMHGHPHSSVGQSTLFGCSTAGHSGINQLGGVYVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIKPRAIGGSKPRVATTPVVQKIADYKRECPSIFAWEIRDRLLSEQVCNSDNIPSVSSINRVLRNLASQKEQQAQQQNESVYEKLRMFNGQTGGWAWYPSNTTTAHLTLPPAASVVTSPANLSGQADRDDVQKRELQFSVEVSHTNSHDSTSDGNSEHNSSGDEDSQMRLRLKRKLQRNRTSFSNEQIDSLEKEFERTHYPDVFARERLADKIGLPEARIQVWFSNRRAKWRREEKMRTQRRSADTVDGSGRTSTANNPSGTTASSSVATSNNSTPGIVNSAINVAERTSSALVSNSLPEASNGPTVLGGEANTTHTSSESPPLQPAAPRLPLNSGFNTMYSSIPQPIATMAENYNSSLGSMTPSCLQQRDAYPYMFHDPLSLGSPYVSAHHRNTACNPSAAHQQPPQHGVYTNSSPMPSSNTGVISAGVSVPVQISTQNVSDLTGSNYWPRLQ", "length": 543, "header": "tr|Q9V490-1|A0A6H2EG63_DROME Computationally mapped isoform of Twin of eyeless, isoform D OS=Drosophila melanogaster OX=7227 GN=toy PE=3 SV=4 CANONICAL=A0A6H2EG63-1" }, "locus": { "chromosome": "4", "start_pos": 1006157, "end_pos": 990252, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0089185", "url": "https://www.ensembl.org/id/FBtr0089185" }, { "database": "Ensembl Peptide", "id": "FBpp0088249", "url": "https://www.ensembl.org/id/FBpp0088249" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [], "pathway": [ { "id": "dme:Dmel_CG11186", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG11186", "resource": "KEGG Pathway" } ], "orthologs": [], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 9, "go_terms": [ { "name": "compound eye development", "id": "GO:0048749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048749", "evidence": [ { "database": "UniProtKB", "id": "A0A6H2EG63", "url": "https://www.uniprot.org/uniprot/A0A6H2EG63" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "A0A6H2EG63", "url": "https://www.uniprot.org/uniprot/A0A6H2EG63" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "A0A6H2EG63", "url": "https://www.uniprot.org/uniprot/A0A6H2EG63" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "A0A6H2EG63", "url": "https://www.uniprot.org/uniprot/A0A6H2EG63" } ], "pmid": "" }, { "name": "anatomical structure development", "id": "GO:0048856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048856", "evidence": [ { "database": "UniProtKB", "id": "A0A6H2EG63", "url": "https://www.uniprot.org/uniprot/A0A6H2EG63" } ], "pmid": "" }, { "name": "brain morphogenesis", "id": "GO:0048854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048854", "evidence": [ { "database": "UniProtKB", "id": "A0A6H2EG63", "url": "https://www.uniprot.org/uniprot/A0A6H2EG63" } ], "pmid": "" }, { "name": "ocellus development", "id": "GO:0008056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008056", "evidence": [ { "database": "UniProtKB", "id": "A0A6H2EG63", "url": "https://www.uniprot.org/uniprot/A0A6H2EG63" } ], "pmid": "" }, { "name": "eye-antennal disc development", "id": "GO:0035214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035214", "evidence": [ { "database": "UniProtKB", "id": "A0A6H2EG63", "url": "https://www.uniprot.org/uniprot/A0A6H2EG63" } ], "pmid": "" }, { "name": "mushroom body development", "id": "GO:0016319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016319", "evidence": [ { "database": "UniProtKB", "id": "A0A6H2EG63", "url": 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