{ "uniprot_canonical_ac": "A0A0R4IQL7-1", "uniprot_ac": "A0A0R4IQL7", "uniprot_id": "A0A0R4IQL7_DANRE", "mass": { "chemical_mass": 49960.0, "monoisotopic_mass": 49960.0 }, "refseq": { "ac": "XP_005168876", "name": "paired box protein Pax-6b isoform X1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_005168876" }, "gene_names": [ { "name": "pax6b", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IQL7", "id": "A0A0R4IQL7" }, { "name": "Pax6.2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IQL7", "id": "A0A0R4IQL7" }, { "name": "cb566; fc09c10; id:ibd5095; Pax6.2; wu:fc09c10; wu:fc33g08", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_005168876", "id": "XP_005168876" }, { "name": "cb566", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IQL7", "id": "A0A0R4IQL7" }, { "name": "fc09c10", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IQL7", "id": "A0A0R4IQL7" }, { "name": "id:ibd5095", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IQL7", "id": "A0A0R4IQL7" }, { "name": "pax6.2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IQL7", "id": "A0A0R4IQL7" }, { "name": "pax6b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_005168876", "id": "XP_005168876" }, { "name": "wu:fc09c10", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IQL7", "id": "A0A0R4IQL7" }, { "name": "wu:fc33g08", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IQL7", "id": "A0A0R4IQL7" } ], "protein_names": [ { "name": "Paired box protein Pax-6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IQL7/entry#names_and_taxonomy", "id": "A0A0R4IQL7" }, { "name": "paired box protein Pax-6b isoform X1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_005168876", "id": "XP_005168876" } ], "function": [ { "annotation": "##Genome-Annotation-Data-START## Annotation Provider :: NCBI RefSeq Annotation Status :: Full annotation Annotation Name :: GCF_049306965.1-RS_2025_04 Annotation Pipeline :: NCBI eukaryotic genome annotation pipeline Annotation Software Version :: 10.3 Annotation Method :: Best-placed RefSeq; Gnomon; cmsearch; tRNAscan-SE Features Annotated :: Gene; mRNA; CDS; ncRNA Annotation Date :: 04/11/2025 ##Genome-Annotation-Data-END## MODEL REFSEQ: This record is predicted by automated computational analysis. This record is derived from a genomic sequence (NC_133182) annotated using gene prediction method: Gnomon, supported by EST evidence. Also see: Documentation of NCBI's Annotation Process COMPLETENESS: full length.", "evidence": [ { "database": "RefSeq", "id": "XP_005168876", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_005168876" } ] } ], "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": [], "unlinked_id_list": [], "evidence": [ { "id": "0060673", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060673" } ] }, { "disease_id": "DOID:0070530", "recommended_name": { "id": "DOID:0070530", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070530", "name": "foveal hypoplasia 1", "description": "A retinal disease characterized by foveal hypoplasia with decreased visual acuity, nystagmus and lack of aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13." }, "synonyms": [ { "id": "DOID:0070530", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070530", "name": "foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract", "description": "" }, { "id": "DOID:0070530", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070530", "name": "FVH1", "description": "" }, { "id": "MONDO:0007628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007628", "name": "foveal hypoplasia 1", "description": "Any foveal hypoplasia in which the cause of the disease is a mutation in the PAX6 gene." }, { "id": "MONDO:0007628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007628", "name": "PAX6 foveal hypoplasia", "description": "" }, { "id": "MONDO:0007628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007628", "name": "foveal hypoplasia 1", "description": "" }, { "id": "MONDO:0007628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007628", "name": "foveal hypoplasia caused by mutation in PAX6", "description": "" }, { "id": "MONDO:0007628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007628", "name": "foveal hypoplasia type 1", "description": "" }, { "id": "MONDO:0007628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007628", "name": "FVH1", "description": "" }, { "id": "MONDO:0007628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007628", "name": "O Donnell Pappas syndrome", "description": "" }, { "id": "MONDO:0007628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007628", "name": "foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract", "description": "" }, { "id": "MONDO:0007628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007628", "name": "foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts", "description": "" }, { "id": "MONDO:0007628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007628", "name": "foveal hypoplasia, presenile cataract", "description": "" }, { "id": "MIM:136520", "resource": "MIM", "url": "https://www.omim.org/entry/136520", "name": "Foveal hypoplasia 1", "description": "Foveal hypoplasia 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070530", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070530" } ] }, { "disease_id": "DOID:0070532", "recommended_name": { "id": "DOID:0070532", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070532", "name": "aniridia 1", "description": "An aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. Additional ocular anomalies are also common." }, "synonyms": [ { "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" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070532", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070532" } ] }, { "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" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080610", "database": "AGR", "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": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110233", "database": "AGR", "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" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111383", "database": "AGR", "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": "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": "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": "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": "MIM:165550", "resource": "MIM", "url": "https://www.omim.org/entry/165550", "name": "Bilateral optic nerve hypoplasia", "description": "Bilateral optic nerve hypoplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111531", "database": "AGR", "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": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "10603", "database": "AGR", "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": "" } ], "unlinked_id_list": [ "DOID:0080637" ], "evidence": [ { "id": "10629", "database": "AGR", "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" } ], "unlinked_id_list": [], "evidence": [ { "id": "1068", "database": "AGR", "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" } ], "unlinked_id_list": [], "evidence": [ { "id": "11975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11975" } ] }, { "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": "DOID:12271", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12271", "name": "isolated aniridia", "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" } ], "unlinked_id_list": [], "evidence": [ { "id": "12271", "database": "AGR", "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": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "1229", "database": "AGR", "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": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "12849", "database": "AGR", "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" } ], "unlinked_id_list": [], "evidence": [ { "id": "14692", "database": "AGR", "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": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "224", "database": "AGR", "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": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3587", "database": "AGR", "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" } ], "unlinked_id_list": [], "evidence": [ { "id": "83", "database": "AGR", "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" } ], "unlinked_id_list": [], "evidence": [ { "id": "9649", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9649" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IQL7", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IQL7" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "gene": [ { "name": "pax6b", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IQL7", "locus": {} } ], "crossref": [ { "id": "ZFIN:ZDB-GENE-001031-1", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-001031-1", "database": "AGR", "categories": [ "Protein Classification" ] }, { "id": "ENSDARG00000045936", "url": "https://bgee.org/?page=gene&gene_id=ENSDARG00000045936", "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": "60639", "url": "https://www.ncbi.nlm.nih.gov/gene/60639", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "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": "dre:60639", "url": "https://www.genome.jp/dbget-bin/www_bget?dre:60639", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "VIHENTS", "url": "https://omabrowser.org/oma/group/VIHENTS/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "A0A0R4IQL7", "url": "https://www.orthodb.org/?gene=A0A0R4IQL7", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "A0A8M2BG41", "url": "https://www.orthodb.org/?gene=A0A8M2BG41", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "A0A8M3B3W1", "url": "https://www.orthodb.org/?gene=A0A8M3B3W1", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "Q9YHZ8", "url": "https://www.orthodb.org/?gene=Q9YHZ8", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR45636", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45636", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45636:SF44", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45636:SF44", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00046", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF00046", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00292", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF00292", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "XP_005168876", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_005168876", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A0R4IQL7", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IQL7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0R4IQL7-1", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IQL7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8M2BG41", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BG41", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8M2BG41-1", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BG41-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8M3B3W1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B3W1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8M3B3W1-1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B3W1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8M9PP46", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PP46", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8M9PP46-1", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PP46-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8M9Q1T3", "url": "https://www.uniprot.org/uniprotkb/A0A8M9Q1T3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8M9Q1T3-1", "url": "https://www.uniprot.org/uniprotkb/A0A8M9Q1T3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9YHZ8", "url": "https://www.uniprot.org/uniprotkb/Q9YHZ8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9YHZ8-1", "url": "https://www.uniprot.org/uniprotkb/Q9YHZ8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "ZDB-GENE-001031-1", "url": "https://zfin.org/ZDB-GENE-001031-1", "database": "ZFIN", "categories": [ "Protein", "Organism-specific" ] } ], "sequence": { "sequence": "MPQKEYHNQPTWESGVASMMQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHDDAKVQLDNKNVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVGKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQSGTWGTRPGWYPGTSVPGQPNQDGCQQQDNGGENTNSISSNGEDSDETQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNSSSHIPISSSFNTSVYQAIPQPTTPVSFTTGSMLGRPDTALTNTYTGLPPMPSFTMANNLPMQPSQTSSYSCMLPSSPSVNGRSFDTYTPPHMQAHMNSQTMATSGTASTGLISPGVSVPVQVPGTEPDMSQYWSRLQ", "length": 450, "header": "tr|A0A0R4IQL7-1|A0A0R4IQL7_DANRE Isoform 1 of Paired box protein Pax-6 OS=Danio rerio OX=7955 GN=pax6b PE=3 SV=1 CANONICAL=A0A0R4IQL7-1" }, "isoforms": [ { "isoform_ac": "A0A0R4IQL7-1", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IQL7/entry#A0A0R4IQL7-1", "sequence": { "sequence": "MPQKEYHNQPTWESGVASMMQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHDDAKVQLDNKNVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVGKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQSGTWGTRPGWYPGTSVPGQPNQDGCQQQDNGGENTNSISSNGEDSDETQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNSSSHIPISSSFNTSVYQAIPQPTTPVSFTTGSMLGRPDTALTNTYTGLPPMPSFTMANNLPMQPSQTSSYSCMLPSSPSVNGRSFDTYTPPHMQAHMNSQTMATSGTASTGLISPGVSVPVQVPGTEPDMSQYWSRLQ", "length": 450, "header": "tr|A0A0R4IQL7-1|A0A0R4IQL7_DANRE Isoform 1 of Paired box protein Pax-6 OS=Danio rerio OX=7955 GN=pax6b PE=3 SV=1 CANONICAL=A0A0R4IQL7-1" }, "locus": {} }, { "isoform_ac": "A0A8M2BG41-1", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IQL7/entry#A0A8M2BG41-1", "sequence": { "sequence": "MPQKEYHNQPTWESGVASMMQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHDDAKVQLDNKNVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVGKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQSGTWGTRPGWYPGTSVPGQPNQDGCQQQDNGGENTNSISSNGEDSDETQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNSSSHIPISSSFNTSVYQAIPQPTTPVSFTTGSMLGRPDTALTNTYTGLPPMPSFTMANNLPMQDSSLLECLSLSKSPELSLTCLNTGQDYSKEKSYFAL", "length": 411, "header": "tr|A0A8M2BG41-1|A0A0R4IQL7_DANRE Computationally mapped isoform of Paired box protein Pax-6 OS=Danio rerio OX=7955 GN=pax6b PE=3 SV=1 CANONICAL=A0A0R4IQL7-1" }, "locus": {} }, { "isoform_ac": "A0A8M3B3W1-1", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IQL7/entry#A0A8M3B3W1-1", "sequence": { "sequence": "MPQKEYHNQPTWESGVASMMQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVGKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQSGTWGTRPGWYPGTSVPGQPNQDGCQQQDNGGENTNSISSNGEDSDETQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNSSSHIPISSSFNTSVYQAIPQPTTPVSFTTGSMLGRPDTALTNTYTGLPPMPSFTMANNLPMQDSSLLECLSLSKSPELSLTCLNTGQDYSKEKSYFAL", "length": 398, "header": "tr|A0A8M3B3W1-1|A0A8M3B3W1_DANRE Computationally mapped isoform of Paired box protein Pax-6 OS=Danio rerio OX=7955 GN=pax6b PE=3 SV=1 CANONICAL=A0A0R4IQL7-1" }, "locus": {} }, { "isoform_ac": "A0A8M9PP46-1", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IQL7/entry#A0A8M9PP46-1", "sequence": { "sequence": "MMQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHDDAKVQLDNKNVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVGKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQSGTWGTRPGWYPGTSVPGQPNQDGCQQQDNGGENTNSISSNGEDSDETQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNSSSHIPISSSFNTSVYQAIPQPTTPVSFTTGSMLGRPDTALTNTYTGLPPMPSFTMANNLPMQPSQTSSYSCMLPSSPSVNGRSFDTYTPPHMQAHMNSQTMATSGTASTGLISPGVSVPVQVPGTEPDMSQYWSRLQ", "length": 432, "header": "tr|A0A8M9PP46-1|A0A8M9PP46_DANRE Computationally mapped isoform of Paired box protein Pax-6 OS=Danio rerio OX=7955 GN=pax6b PE=3 SV=1 CANONICAL=A0A0R4IQL7-1" }, "locus": {} }, { "isoform_ac": "A0A8M9Q1T3-1", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IQL7/entry#A0A8M9Q1T3-1", "sequence": { "sequence": "MMQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVGKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQSGTWGTRPGWYPGTSVPGQPNQDGCQQQDNGGENTNSISSNGEDSDETQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNSSSHIPISSSFNTSVYQAIPQPTTPVSFTTGSMLGRPDTALTNTYTGLPPMPSFTMANNLPMQPSQTSSYSCMLPSSPSVNGRSFDTYTPPHMQAHMNSQTMATSGTASTGLISPGVSVPVQVPGTEPDMSQYWSRLQ", "length": 419, "header": "tr|A0A8M9Q1T3-1|A0A0R4IQL7_DANRE Computationally mapped isoform of Paired box protein Pax-6 OS=Danio rerio OX=7955 GN=pax6b PE=3 SV=1 CANONICAL=A0A0R4IQL7-1" }, "locus": {} }, { "isoform_ac": "Q9YHZ8-1", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IQL7/entry#Q9YHZ8-1", "sequence": { "sequence": "MPQKEYHNQPTWESGVASMMQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVGKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQSGTWGTRPGWYPGTSVPGQPNQDGCQQQDNGGENTNSISSNGEDSDETQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNSSSHIPISSSFNTSVYQAIPQPTTPVSFTTGSMLGRPDTALTNTYTGLPPMPSFTMANNLPMQPSQTSSYSCMLPSSPSVNGRSFDTYTPPHMQAHMNSQTMATSGTASTGLISPGVSVPVQVPGTEPDMSQYWSRLQ", "length": 437, "header": "tr|Q9YHZ8-1|Q9YHZ8_DANRE Computationally mapped isoform of Paired box protein Pax-6 OS=Danio rerio OX=7955 GN=pax6b PE=2 SV=1 CANONICAL=A0A0R4IQL7-1" }, "locus": {} } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "A gene expression screen in zebrafish embryogenesis.", "journal": "Genome Res.", "date": "2001", "authors": "Kudoh T, Tsang M, Hukriede N A, Chen X, Dedekian M, Clarke C J, Kiang A, Schultz S, Epstein J A, Toyama R, Dawid I B", "evidence": [ { "database": "UniProtKB", "id": "Q9YHZ8", "url": "https://www.uniprot.org/uniprotkb/Q9YHZ8" } ], "reference": [ { "type": "PubMed", "id": "11731487", "url": "https://glygen.org/publication/PubMed/11731487" } ] }, { "title": "Sequence and expression pattern of pax-6 are highly conserved between zebrafish and mice.", "journal": "Development", "date": "1992", "authors": "P\u00fcschel A W, Gruss P, Westerfield M", "evidence": [ { "database": "UniProtKB", "id": "Q9YHZ8", "url": "https://www.uniprot.org/uniprotkb/Q9YHZ8" } ], "reference": [ { "type": "PubMed", "id": "1352238", "url": "https://glygen.org/publication/PubMed/1352238" } ] }, { "title": "Zebrafish cone-rod (crx) homeobox gene promotes retinogenesis.", "journal": "Dev. Biol.", "date": "2004", "authors": "Shen Yu-chi, Raymond Pamela A", "evidence": [ { "database": "UniProtKB", "id": "Q9YHZ8", "url": "https://www.uniprot.org/uniprotkb/Q9YHZ8" } ], "reference": [ { "type": "PubMed", "id": "15081370", "url": "https://glygen.org/publication/PubMed/15081370" } ] }, { "title": "Conserved and acquired features of neurogenin1 regulation.", "journal": "Development", "date": "2004", "authors": "Blader Patrick, Lam Chen Sok, Rastegar Sepand, Scardigli Raffaella, Nicod Jean-Christophe, Simplicio Nicolas, Plessy Charles, Fischer Nadine, Schuurmans Carol, Guillemot Fran\u00e7ois, Str\u00e4hle Uwe", "evidence": [ { "database": "UniProtKB", "id": "Q9YHZ8", "url": "https://www.uniprot.org/uniprotkb/Q9YHZ8" } ], "reference": [ { "type": "PubMed", "id": "15496438", "url": "https://glygen.org/publication/PubMed/15496438" } ] }, { "title": "Using zebrafish to study the complex genetics of glaucoma.", "journal": "Comp. Biochem. Physiol. C Toxicol. Pharmacol.", "date": "2004", "authors": "McMahon C, Semina E V, Link B A", "evidence": [ { "database": "UniProtKB", "id": "Q9YHZ8", "url": "https://www.uniprot.org/uniprotkb/Q9YHZ8" } ], "reference": [ { "type": "PubMed", "id": "15533792", "url": "https://glygen.org/publication/PubMed/15533792" } ] }, { "title": "The zebrafish reference genome sequence and its relationship to the human genome.", "journal": "Nature", "date": "2013", "authors": "Howe Kerstin, Clark Matthew D, Torroja Carlos F, Torrance James, Berthelot Camille, Muffato Matthieu, Collins John E, Humphray Sean, McLaren Karen, Matthews Lucy, McLaren Stuart, Sealy Ian, Caccamo Mario, Churcher Carol, Scott Carol, Barrett Jeffrey C, Koch Romke, Rauch Gerd-J\u00f6rg, White Simon, Chow William, Kilian Britt, Quintais Leonor T, Guerra-Assun\u00e7\u00e3o Jos\u00e9 A, Zhou Yi, Gu Yong, Yen Jennifer, Vogel Jan-Hinnerk, Eyre Tina, Redmond Seth, Banerjee Ruby, Chi Jianxiang, Fu Beiyuan, Langley Elizabeth, Maguire Sean F, Laird Gavin K, Lloyd David, Kenyon Emma, Donaldson Sarah, Sehra Harminder, Almeida-King Jeff, Loveland Jane, Trevanion Stephen, Jones Matt, Quail Mike, Willey Dave, Hunt Adrienne, Burton John, Sims Sarah, McLay Kirsten, Plumb Bob, Davis Joy, Clee Chris, Oliver Karen, Clark Richard, Riddle Clare, Elliot David, Eliott David, Threadgold Glen, Harden Glenn, Ware Darren, Begum Sharmin, Mortimore Beverley, Mortimer Beverly, Kerry Giselle, Heath Paul, Phillimore Benjamin, Tracey Alan, Corby Nicole, Dunn Matthew, Johnson Christopher, Wood Jonathan, Clark Susan, Pelan Sarah, Griffiths Guy, Smith Michelle, Glithero Rebecca, Howden Philip, Barker Nicholas, Lloyd Christine, Stevens Christopher, Harley Joanna, Holt Karen, Panagiotidis Georgios, Lovell Jamieson, Beasley Helen, Henderson Carl, Gordon Daria, Auger Katherine, Wright Deborah, Collins Joanna, Raisen Claire, Dyer Lauren, Leung Kenric, Robertson Lauren, Ambridge Kirsty, Leongamornlert Daniel, McGuire Sarah, Gilderthorp Ruth, Griffiths Coline, Manthravadi Deepa, Nichol Sarah, Barker Gary, Whitehead Siobhan, Kay Michael, Brown Jacqueline, Murnane Clare, Gray Emma, Humphries Matthew, Sycamore Neil, Barker Darren, Saunders David, Wallis Justene, Babbage Anne, Hammond Sian, Mashreghi-Mohammadi Maryam, Barr Lucy, Martin Sancha, Wray Paul, Ellington Andrew, Matthews Nicholas, Ellwood Matthew, Woodmansey Rebecca, Clark Graham, Cooper James D, Cooper James, Tromans Anthony, Grafham Darren, Skuce Carl, Pandian Richard, Andrews Robert, Harrison Elliot, Kimberley Andrew, Garnett Jane, Fosker Nigel, Hall Rebekah, Garner Patrick, Kelly Daniel, Bird Christine, Palmer Sophie, Gehring Ines, Berger Andrea, Dooley Christopher M, Ersan-\u00dcr\u00fcn Z\u00fcbeyde, Eser Cigdem, Geiger Horst, Geisler Maria, Karotki Lena, Kirn Anette, Konantz Judith, Konantz Martina, Oberl\u00e4nder Martina, Rudolph-Geiger Silke, Teucke Mathias, Lanz Christa, Raddatz G\u00fcnter, Osoegawa Kazutoyo, Zhu Baoli, Rapp Amanda, Widaa Sara, Langford Cordelia, Yang Fengtang, Schuster Stephan C, Carter Nigel P, Harrow Jennifer, Ning Zemin, Herrero Javier, Searle Steve M J, Enright Anton, Geisler Robert, Plasterk Ronald H A, Lee Charles, Westerfield Monte, de Jong Pieter J, Zon Leonard I, Postlethwait John H, N\u00fcsslein-Volhard Christiane, Hubbard Tim J P, Roest Crollius Hugues, Rogers Jane, Stemple Derek L", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9Q1T3", "url": "https://www.uniprot.org/uniprotkb/A0A8M9Q1T3" } ], "reference": [ { "type": "PubMed", "id": "23594743", "url": "https://glygen.org/publication/PubMed/23594743" } ] }, { "title": "Disruption of the glucagon receptor increases glucagon expression beyond alpha-cell hyperplasia in zebrafish.", "journal": "J. Biol. Chem.", "date": "2022", "authors": "Kang Qi, Zheng Jihong, Jia Jianxin, Xu Ying, Bai Xuanxuan, Chen Xinhua, Zhang Xiao-Kun, Wong F Susan, Zhang Chao, Li Mingyu", "evidence": [ { "database": "UniProtKB", "id": "Q9YHZ8", "url": "https://www.uniprot.org/uniprotkb/Q9YHZ8" } ], "reference": [ { "type": "PubMed", "id": "36334626", "url": "https://glygen.org/publication/PubMed/36334626" } ] }, { "title": "Novel Loss-of-Function Variant in HNF1a Induces beta-Cell Dysfunction through Endoplasmic Reticulum Stress.", "journal": "Int. J. Mol. Sci.", "date": "2022", "authors": "Chen Yinling, Jia Jianxin, Zhao Qing, Zhang Yuxian, Huang Bingkun, Wang Likun, Tian Juanjuan, Huang Caoxin, Li Mingyu, Li Xuejun", "evidence": [ { "database": "UniProtKB", "id": "Q9YHZ8", "url": "https://www.uniprot.org/uniprotkb/Q9YHZ8" } ], "reference": [ { "type": "PubMed", "id": "36361808", "url": "https://glygen.org/publication/PubMed/36361808" } ] }, { "title": "Effect of Polydeoxyribonucleotide (PDRN) Treatment on Corneal Wound Healing in Zebrafish (Danio rerio).", "journal": "Int. J. Mol. Sci.", "date": "2022", "authors": "Edirisinghe Shan Lakmal, Nikapitiya Chamilani, Dananjaya S H S, Park Jungho, Kim Dukgyu, Choi Dongrack, De Zoysa Mahanama", "evidence": [ { "database": "UniProtKB", "id": "Q9YHZ8", "url": "https://www.uniprot.org/uniprotkb/Q9YHZ8" } ], "reference": [ { "type": "PubMed", "id": "36362312", "url": "https://glygen.org/publication/PubMed/36362312" } ] }, { "title": "shox2 is required for vestibular statoacoustic neuron development.", "journal": "Biol. 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