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"name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q6PGZ7", "url": "https://www.uniprot.org/uniprotkb/Q6PGZ7" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q6PGZ7", "url": "https://www.uniprot.org/uniprotkb/Q6PGZ7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q6PH11-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q6PH11", "url": "https://www.uniprot.org/uniprotkb/Q6PH11" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 194, "chemical_mass": 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} ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q6PUF3-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q6PUF3", "url": "https://www.uniprot.org/uniprotkb/Q6PUF3" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 287, "chemical_mass": 31918.0, "gene_names": "hsd11b1l;11-DH3;hsd11b1la;hsd11b1l;hsd11b3a;hsd11b3;hsd3;sdr10b;si:dkey-78l4.15;zgc:56373", "protein_name": "Hydroxysteroid 11-beta-dehydrogenase 1-like protein", "disease": [ { "disease_id": "DOID:0090139", "name": "cortisone reductase deficiency", "description": "An endocrine system disease characterized by failure to regenerate the active glucocorticoid cortisol from cortisone resulting in adrenal hyperandrogenism.", "url": "https://disease-ontology.org/term/DOID:0090139", "evidence": [ { "id": "0090139", "database": "AGR", "url": 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"id": "GO:0003743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003743", "evidence": [ { "database": "UniProtKB", "id": "Q6ZM19", "url": "https://www.uniprot.org/uniprotkb/Q6ZM19" } ], "pmid": "" }, { "name": "ribosomal large subunit binding", "id": "GO:0043023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043023", "evidence": [ { "database": "UniProtKB", "id": "Q6ZM19", "url": "https://www.uniprot.org/uniprotkb/Q6ZM19" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q6ZM28-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q6ZM28", "url": "https://www.uniprot.org/uniprotkb/Q6ZM28" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 144, "chemical_mass": 16518.0, "gene_names": "slc48a1a;hrg1b;si:ch211-226m16.1;slc48a1a;zgc:92662", "protein_name": "Heme transporter hrg1-B", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6ZM28", "url": "https://www.uniprot.org/uniprotkb/Q6ZM28" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q6ZM28", "url": "https://www.uniprot.org/uniprotkb/Q6ZM28" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q6ZM28", "url": "https://www.uniprot.org/uniprotkb/Q6ZM28" } ], "pmid": "" }, { "name": "phagocytic vesicle membrane", "id": "GO:0030670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030670", "evidence": [ { "database": "UniProtKB", "id": "Q6ZM28", "url": "https://www.uniprot.org/uniprotkb/Q6ZM28" } ], "pmid": "" }, { "name": "endosome 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[], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q6ZM34-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q6ZM34", "url": "https://www.uniprot.org/uniprotkb/Q6ZM34" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 831, "chemical_mass": 95281.0, "gene_names": "vps35;bZ34G2.3;si:rp71-34g2.3;vps35;wu:fa66e03;wu:fb95c08;zgc:136268", "protein_name": "Vacuolar protein sorting-associated protein 35", "disease": [ { "disease_id": "DOID:0060897", "name": "Parkinson's disease 17", "description": "A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13.", "url": "https://disease-ontology.org/term/DOID:0060897", "evidence": [ { "id": "0060897", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060897" } ], "weight": 0.0 }, { "disease_id": 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"evidence": [ { "database": "UniProtKB", "id": "Q7SXR1", "url": "https://www.uniprot.org/uniprotkb/Q7SXR1" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q7SXR1", "url": "https://www.uniprot.org/uniprotkb/Q7SXR1" } ], "pmid": "" }, { "name": "double-stranded RNA binding", "id": "GO:0003725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003725", "evidence": [ { "database": "UniProtKB", "id": "Q7SXR1", "url": "https://www.uniprot.org/uniprotkb/Q7SXR1" } ], "pmid": "" }, { "name": "miRNA binding", "id": "GO:0035198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035198", "evidence": [ { "database": "UniProtKB", "id": "Q7SXR1", "url": "https://www.uniprot.org/uniprotkb/Q7SXR1" } ], "pmid": "" }, { "name": "siRNA binding", "id": "GO:0035197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035197", "evidence": [ { "database": "UniProtKB", "id": "Q7SXR1", "url": "https://www.uniprot.org/uniprotkb/Q7SXR1" } ], "pmid": "" }, { "name": "pre-miRNA binding", "id": "GO:0070883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070883", "evidence": [ { "database": "UniProtKB", "id": "Q7SXR1", "url": "https://www.uniprot.org/uniprotkb/Q7SXR1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q7SXU0-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q7SXU0", "url": "https://www.uniprot.org/uniprotkb/Q7SXU0" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 249, "chemical_mass": 28673.0, "gene_names": "eif3ja;eif3j;eif3s1a;zgc:63801", "protein_name": "Eukaryotic translation initiation factor 3 subunit J-A", "disease": [], "molecular_function": [ { "name": "translation initiation factor activity", "id": 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"sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q7SXV2-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q7SXV2", "url": "https://www.uniprot.org/uniprotkb/Q7SXV2" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 415, "chemical_mass": 45388.0, "gene_names": "aebp2;aebp2;si:dkey-158p11.2;wu:fk42f11;wu:fk52h12;zgc:63755", "protein_name": "Zinc finger protein AEBP2", "disease": [ { "disease_id": "DOID:10487", "name": "Hirschsprung's disease", "description": "A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.", "url": "https://disease-ontology.org/term/DOID:10487", "evidence": [ { "id": "10487", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10487" } ], "weight": 0.0 }, { "disease_id": "DOID:9258", "name": "Waardenburg syndrome", "description": "A syndrome characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes.", "url": "https://disease-ontology.org/term/DOID:9258", "evidence": [ { "id": "9258", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9258" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q7SXV2", "url": "https://www.uniprot.org/uniprotkb/Q7SXV2" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q7SXV2", "url": "https://www.uniprot.org/uniprotkb/Q7SXV2" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": 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"record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q7SXV9-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q7SXV9", "url": "https://www.uniprot.org/uniprotkb/Q7SXV9" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 315, "chemical_mass": 37335.0, "gene_names": "calub;Calu;calub;fb43g05;sb:eu326;wu:fb43g05;zgc:63741", "protein_name": "Calumenin-B", "disease": [ { "disease_id": "DOID:0080199", "name": "colorectal carcinoma", "description": "A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa.", "url": "https://disease-ontology.org/term/DOID:0080199", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ], "weight": 0.0 }, { "disease_id": "DOID:13207", "name": "proliferative diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:13207", "evidence": [ { "id": "13207", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13207" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q7SXV9", "url": "https://www.uniprot.org/uniprotkb/Q7SXV9" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q7SXV9", "url": "https://www.uniprot.org/uniprotkb/Q7SXV9" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q7SXV9", "url": "https://www.uniprot.org/uniprotkb/Q7SXV9" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": 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"uniprot_canonical_ac": "Q7SXW2-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q7SXW2", "url": "https://www.uniprot.org/uniprotkb/Q7SXW2" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 504, "chemical_mass": 55727.0, "gene_names": "zgpat;zgc:63730;zgpat", "protein_name": "Zinc finger CCCH-type with G patch domain-containing protein", "disease": [], "biological_process": [ { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "Q7SXW2", "url": "https://www.uniprot.org/uniprotkb/Q7SXW2" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q7SXW2", "url": "https://www.uniprot.org/uniprotkb/Q7SXW2" 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], "biological_process": [ { "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": "Q7SXW6", "url": "https://www.uniprot.org/uniprotkb/Q7SXW6" } ], "pmid": "" }, { "name": "Arp2/3 complex-mediated actin nucleation", "id": "GO:0034314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034314", "evidence": [ { "database": "UniProtKB", "id": "Q7SXW6", "url": "https://www.uniprot.org/uniprotkb/Q7SXW6" } ], "pmid": "" }, { "name": "positive regulation of double-strand break repair via homologous recombination", "id": "GO:1905168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905168", "evidence": [ { "database": "UniProtKB", "id": "Q7SXW6", "url": "https://www.uniprot.org/uniprotkb/Q7SXW6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q7SXY4-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q7SXY4", "url": "https://www.uniprot.org/uniprotkb/Q7SXY4" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 358, "chemical_mass": 40189.0, "gene_names": "dync2li1;dync2li1;zgc:63673", "protein_name": "Cytoplasmic dynein 2 light intermediate chain 1", "disease": [ { "disease_id": "DOID:0050592", "name": "asphyxiating thoracic dystrophy", "description": "A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy.", "url": "https://disease-ontology.org/term/DOID:0050592", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { 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"" }, { "name": "eye photoreceptor cell development", "id": "GO:0042462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042462", "evidence": [ { "database": "UniProtKB", "id": "G9G127", "url": "https://www.uniprot.org/uniprotkb/G9G127" } ], "pmid": "" }, { "name": "microtubule anchoring at centrosome", "id": "GO:0034454", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034454", "evidence": [ { "database": "UniProtKB", "id": "G9G127", "url": "https://www.uniprot.org/uniprotkb/G9G127" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "E9QEA3-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "E9QEA3", "url": "https://www.uniprot.org/uniprotkb/E9QEA3" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 684, "chemical_mass": 73514.0, "gene_names": 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], "cellular_component": [ { "name": "telomerase holoenzyme complex", "id": "GO:0005697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005697", "evidence": [ { "database": "UniProtKB", "id": "Q7ZVE0", "url": "https://www.uniprot.org/uniprotkb/Q7ZVE0" } ], "pmid": "" }, { "name": "box H/ACA snoRNP complex", "id": "GO:0031429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031429", "evidence": [ { "database": "UniProtKB", "id": "Q7ZVE0", "url": "https://www.uniprot.org/uniprotkb/Q7ZVE0" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q7ZVE0", "url": "https://www.uniprot.org/uniprotkb/Q7ZVE0" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "Q7ZVE0", "url": "https://www.uniprot.org/uniprotkb/Q7ZVE0" } ], "pmid": "" } ], 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"" } ], "molecular_function": [ { "name": "ammonium channel activity", "id": "GO:0008519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008519", "evidence": [ { "database": "UniProtKB", "id": "Q7T070", "url": "https://www.uniprot.org/uniprotkb/Q7T070" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q7T070-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Asn45", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 45, "start_aa": "Asn", "end_pos": 45, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn45", "evidence": [ { "id": "Q7T070", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q7T070#ptm_processing" } ] } ] } ], "record_id": "batch.zebrafish.2" }, { 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regulation of cell motility", "id": "GO:2000147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000147", "evidence": [ { "database": "UniProtKB", "id": "Q7T312", "url": "https://www.uniprot.org/uniprotkb/Q7T312" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q7T312-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Ser203", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7T312", "url": "https://www.uniprot.org/uniprotkb/Q7T312" }, { "database": "PubMed", "id": "18307296", "url": "https://glygen.org/publication/PubMed/18307296" }, { "database": "iPTMnet", "id": "Q7T312", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7T312" } ] } ] } ], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q7T326-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q7T326", 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"evidence": [ { "database": "UniProtKB", "id": "Q7T326", "url": "https://www.uniprot.org/uniprotkb/Q7T326" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q7T330-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q7T330", "url": "https://www.uniprot.org/uniprotkb/Q7T330" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 374, "chemical_mass": 42134.0, "gene_names": "spop;SPOP1;spop;zgc:64140", "protein_name": "Speckle-type POZ protein", "disease": [ { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { 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produce the systemic manifestations. 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hormone receptor activity", "id": "GO:0004980", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004980", "evidence": [ { "database": "UniProtKB", "id": "Q7ZTA2", "url": "https://www.uniprot.org/uniprotkb/Q7ZTA2" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q7ZTA2", "url": "https://www.uniprot.org/uniprotkb/Q7ZTA2" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q7ZTA2", "url": "https://www.uniprot.org/uniprotkb/Q7ZTA2" } ], "pmid": "" } ], "biological_process": [ { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "Q7ZTA2", "url": "https://www.uniprot.org/uniprotkb/Q7ZTA2" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q7ZTA2", "url": "https://www.uniprot.org/uniprotkb/Q7ZTA2" } ], "pmid": "" }, { "name": "adrenal gland development", "id": "GO:0030325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030325", "evidence": [ { "database": "UniProtKB", "id": "Q7ZTA2", "url": "https://www.uniprot.org/uniprotkb/Q7ZTA2" } ], "pmid": "" }, { "name": "multicellular organismal response to stress", "id": "GO:0033555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033555", "evidence": [ { "database": "UniProtKB", "id": "Q7ZTA2", "url": "https://www.uniprot.org/uniprotkb/Q7ZTA2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q7ZTY4-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q7ZTY4", "url": "https://www.uniprot.org/uniprotkb/Q7ZTY4" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 426, "chemical_mass": 47752.0, "gene_names": "rbbp7;Caf1;rbb4l;wu:fa13g08;wu:fb50h10;wu:fc29d09;zgc:56477;zgc:85617", "protein_name": "Histone-binding protein RBBP7", "disease": [ { "disease_id": "DOID:0061177", "name": "X-linked spermatogenic failure 9", "description": "A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia resulting from maturation arrest that has_material_basis_in hemizygous mutation in the RBBP7 gene on chromosome Xp22.", "url": "https://disease-ontology.org/term/DOID:0061177", "evidence": [ { "id": "0061177", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061177" } ], "weight": 0.0 }, { "disease_id": "DOID:14227", "name": "azoospermia", "description": "A male infertility disease characterized by the absence of any measurable level of sperm in semen.", "url": "https://disease-ontology.org/term/DOID:14227", "evidence": [ { "id": "14227", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14227" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q7ZTY4", "url": "https://www.uniprot.org/uniprotkb/Q7ZTY4" } ], "pmid": "" }, { "name": "ESC/E(Z) complex", "id": "GO:0035098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035098", "evidence": [ { "database": "UniProtKB", "id": "Q7ZTY4", "url": "https://www.uniprot.org/uniprotkb/Q7ZTY4" } ], "pmid": "" }, { "name": "NuRD complex", "id": "GO:0016581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016581", "evidence": [ { "database": "UniProtKB", "id": "Q7ZTY4", "url": "https://www.uniprot.org/uniprotkb/Q7ZTY4" } ], "pmid": "" } ], "biological_process": [ { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q7ZTY4", "url": "https://www.uniprot.org/uniprotkb/Q7ZTY4" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q7ZTY4", "url": "https://www.uniprot.org/uniprotkb/Q7ZTY4" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q7ZTY4", "url": "https://www.uniprot.org/uniprotkb/Q7ZTY4" } ], "pmid": "" }, { "name": "DNA replication", "id": "GO:0006260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006260", "evidence": [ { "database": "UniProtKB", "id": "Q7ZTY4", "url": "https://www.uniprot.org/uniprotkb/Q7ZTY4" } ], "pmid": "" }, { "name": "hematopoietic progenitor cell differentiation", "id": "GO:0002244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002244", "evidence": [ { "database": "UniProtKB", "id": "Q7ZTY4", "url": "https://www.uniprot.org/uniprotkb/Q7ZTY4" } ], "pmid": "" }, { "name": "fin regeneration", "id": "GO:0031101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031101", "evidence": [ { "database": "UniProtKB", "id": "Q7ZTY4", "url": "https://www.uniprot.org/uniprotkb/Q7ZTY4" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q7ZTY4", "url": "https://www.uniprot.org/uniprotkb/Q7ZTY4" } ], "pmid": "" } ], "molecular_function": [ { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "Q7ZTY4", "url": "https://www.uniprot.org/uniprotkb/Q7ZTY4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q7ZTY7-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q7ZTY7", "url": "https://www.uniprot.org/uniprotkb/Q7ZTY7" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 258, "chemical_mass": 29588.0, "gene_names": "use1;fj43b06;use1l;use1;wu:fj43b06;zgc:56402", "protein_name": "Vesicle transport protein USE1", "disease": [], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q7ZTY7", "url": "https://www.uniprot.org/uniprotkb/Q7ZTY7" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q7ZTY7", "url": "https://www.uniprot.org/uniprotkb/Q7ZTY7" } ], "pmid": "" }, { "name": "SNARE complex", "id": "GO:0031201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031201", "evidence": [ { "database": "UniProtKB", "id": "Q7ZTY7", "url": "https://www.uniprot.org/uniprotkb/Q7ZTY7" } ], "pmid": "" } ], "biological_process": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q7ZTY7", "url": "https://www.uniprot.org/uniprotkb/Q7ZTY7" } ], "pmid": "" }, { "name": "retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum", "id": "GO:0006890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006890", "evidence": [ { "database": "UniProtKB", "id": "Q7ZTY7", "url": "https://www.uniprot.org/uniprotkb/Q7ZTY7" } ], "pmid": "" } ], "molecular_function": [ { "name": "SNAP receptor activity", "id": "GO:0005484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005484", "evidence": [ { "database": "UniProtKB", "id": "Q7ZTY7", "url": "https://www.uniprot.org/uniprotkb/Q7ZTY7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q7ZUC2-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q7ZUC2", "url": "https://www.uniprot.org/uniprotkb/Q7ZUC2" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 356, "chemical_mass": 41704.0, "gene_names": "sdf4;Cab45;SDF-4;cab45;sdf4;wu:fb66d06;wu:fd46e11;zgc:56577;zgc:76916", "protein_name": "45 kDa calcium-binding protein", "disease": [], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q7ZUC2", "url": "https://www.uniprot.org/uniprotkb/Q7ZUC2" } ], "pmid": "" }, { "name": "Golgi lumen", "id": "GO:0005796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005796", "evidence": [ { "database": "UniProtKB", "id": "Q7ZUC2", "url": "https://www.uniprot.org/uniprotkb/Q7ZUC2" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q7ZUC2", "url": "https://www.uniprot.org/uniprotkb/Q7ZUC2" } ], "pmid": "" } ], "biological_process": [ { "name": "sprouting angiogenesis", "id": "GO:0002040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002040", "evidence": [ { "database": "UniProtKB", "id": "Q7ZUC2", "url": "https://www.uniprot.org/uniprotkb/Q7ZUC2" } ], "pmid": "" }, { "name": "calcium-ion regulated exocytosis", "id": "GO:0017156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017156", "evidence": [ { "database": "UniProtKB", "id": "Q7ZUC2", "url": "https://www.uniprot.org/uniprotkb/Q7ZUC2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q7ZUC2-1", "start_pos": "33", "end_pos": "33", "site_lbl": "Asn33", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 33, "start_aa": "Asn", "end_pos": 33, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn33", "evidence": [ { "id": "Q7ZUC2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q7ZUC2#ptm_processing" } ] } ] } ], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q7ZUL9-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q7ZUL9", "url": "https://www.uniprot.org/uniprotkb/Q7ZUL9" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 529, "chemical_mass": 58146.0, "gene_names": "mgrn1a;mgrn1;mgrn1a;mgrn1;wu:fi38c03;zgc:55978", "protein_name": "Probable E3 ubiquitin-protein ligase MGRN1", "disease": [], "cellular_component": [ { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q7ZUL9", "url": "https://www.uniprot.org/uniprotkb/Q7ZUL9" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q7ZUL9", "url": "https://www.uniprot.org/uniprotkb/Q7ZUL9" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q7ZUL9", "url": "https://www.uniprot.org/uniprotkb/Q7ZUL9" } ], "pmid": "" } ], "biological_process": [ { "name": "endosome to lysosome transport", "id": "GO:0008333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008333", "evidence": [ { "database": "UniProtKB", "id": "Q7ZUL9", "url": "https://www.uniprot.org/uniprotkb/Q7ZUL9" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q7ZUL9", "url": "https://www.uniprot.org/uniprotkb/Q7ZUL9" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "Q7ZUL9", "url": "https://www.uniprot.org/uniprotkb/Q7ZUL9" } ], "pmid": "" }, { "name": "negative regulation of smoothened signaling pathway", "id": "GO:0045879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045879", "evidence": [ { "database": "UniProtKB", "id": "Q7ZUL9", "url": "https://www.uniprot.org/uniprotkb/Q7ZUL9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q7ZUL9-1", "start_pos": "74", "end_pos": "74", "site_lbl": "Thr74", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 74, "start_aa": "Thr", "end_pos": 74, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr74", "evidence": [ { "id": "", "database": "GlyGen", "url": "https://data.glygen.org/" } ] } ] } ], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q7ZUN8-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q7ZUN8", "url": "https://www.uniprot.org/uniprotkb/Q7ZUN8" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 198, "chemical_mass": 22405.0, "gene_names": "ykt6;ykt6;zgc:55536", "protein_name": "Synaptobrevin homolog YKT6", "disease": [ { "disease_id": "DOID:0050888", "name": "syndromic intellectual disability", "description": "An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.", "url": "https://disease-ontology.org/term/DOID:0050888", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q7ZUN8", "url": "https://www.uniprot.org/uniprotkb/Q7ZUN8" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q7ZUN8", "url": "https://www.uniprot.org/uniprotkb/Q7ZUN8" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q7ZUN8", "url": "https://www.uniprot.org/uniprotkb/Q7ZUN8" } ], "pmid": "" }, { "name": "cytoplasmic vesicle membrane", "id": "GO:0030659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030659", "evidence": [ { "database": "UniProtKB", "id": "Q7ZUN8", "url": "https://www.uniprot.org/uniprotkb/Q7ZUN8" } ], "pmid": "" } ], "biological_process": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q7ZUN8", "url": "https://www.uniprot.org/uniprotkb/Q7ZUN8" } ], "pmid": "" }, { "name": "endoplasmic reticulum to Golgi vesicle-mediated transport", "id": "GO:0006888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006888", "evidence": [ { "database": "UniProtKB", "id": "Q7ZUN8", "url": "https://www.uniprot.org/uniprotkb/Q7ZUN8" } ], "pmid": "" } ], "molecular_function": [ { "name": "transferase activity", "id": "GO:0016740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016740", "evidence": [ { "database": "UniProtKB", "id": "Q7ZUN8", "url": "https://www.uniprot.org/uniprotkb/Q7ZUN8" } ], "pmid": "" }, { "name": "SNAP receptor activity", "id": "GO:0005484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005484", "evidence": [ { "database": "UniProtKB", "id": "Q7ZUN8", "url": "https://www.uniprot.org/uniprotkb/Q7ZUN8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q7ZUP0-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q7ZUP0", "url": "https://www.uniprot.org/uniprotkb/Q7ZUP0" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 254, "chemical_mass": 29091.0, 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These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact.", "url": "https://disease-ontology.org/term/DOID:11166", "evidence": [ { "id": "11166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11166" } ], "weight": 0.0 }, { "disease_id": "DOID:1273", "name": "respiratory syncytial virus infectious disease", "description": "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.", "url": "https://disease-ontology.org/term/DOID:1273", "evidence": [ { "id": "1273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ], "weight": 0.0 }, { "disease_id": "DOID:409", "name": "liver disease", "description": "", "url": "https://disease-ontology.org/term/DOID:409", "evidence": [ { "id": "409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:409" } ], "weight": 0.0 }, { "disease_id": "DOID:4492", "name": "avian influenza", "description": "An influenza that results in infection located in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus (Alphainfluenzavirus influenzae), which is transmitted by contact with infected poultry. At least five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress.", "url": "https://disease-ontology.org/term/DOID:4492", "evidence": [ { "id": "4492", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4492" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:986", "name": "alopecia areata", "description": "An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots.", "url": "https://disease-ontology.org/term/DOID:986", "evidence": [ { "id": "986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:986" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q800G8", "url": "https://www.uniprot.org/uniprotkb/Q800G8" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q800G8", "url": "https://www.uniprot.org/uniprotkb/Q800G8" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q800G8", "url": "https://www.uniprot.org/uniprotkb/Q800G8" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q800G8", "url": "https://www.uniprot.org/uniprotkb/Q800G8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q800G8", "url": "https://www.uniprot.org/uniprotkb/Q800G8" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q800G8", "url": "https://www.uniprot.org/uniprotkb/Q800G8" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q800G8", "url": "https://www.uniprot.org/uniprotkb/Q800G8" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q800G8", "url": "https://www.uniprot.org/uniprotkb/Q800G8" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q800G8", "url": "https://www.uniprot.org/uniprotkb/Q800G8" } ], "pmid": "" } ], "biological_process": [ { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q800G8", "url": "https://www.uniprot.org/uniprotkb/Q800G8" } ], "pmid": "" }, { "name": "response to virus", "id": "GO:0009615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009615", "evidence": [ { "database": "UniProtKB", "id": "Q800G8", "url": "https://www.uniprot.org/uniprotkb/Q800G8" } ], "pmid": "" }, { "name": "synaptic vesicle budding from presynaptic endocytic zone membrane", "id": "GO:0016185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016185", "evidence": [ { "database": "UniProtKB", "id": "Q800G8", "url": "https://www.uniprot.org/uniprotkb/Q800G8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q802F2-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q802F2", "url": "https://www.uniprot.org/uniprotkb/Q802F2" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 193, "chemical_mass": 22261.0, "gene_names": "selenot1a;cb700;selenot1a;selt1a;sept1a;wu:fb63h09;wu:fc79a12", "protein_name": "Thioredoxin reductase-like selenoprotein T1a", "disease": [], "molecular_function": [ { "name": "thioredoxin-disulfide reductase (NADPH) activity", "id": "GO:0004791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004791", "evidence": [ { "database": "UniProtKB", "id": "Q802F2", "url": "https://www.uniprot.org/uniprotkb/Q802F2" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q802F2", "url": "https://www.uniprot.org/uniprotkb/Q802F2" } ], "pmid": "" } ], "biological_process": [ { "name": "cell redox homeostasis", "id": "GO:0045454", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045454", "evidence": [ { "database": "UniProtKB", "id": "Q802F2", "url": "https://www.uniprot.org/uniprotkb/Q802F2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q802U2-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q802U2", "url": "https://www.uniprot.org/uniprotkb/Q802U2" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 876, "chemical_mass": 98182.0, "gene_names": "mios;mios;zgc:55958", "protein_name": "GATOR2 complex protein MIOS", "disease": [], "biological_process": [ { "name": "positive regulation of TORC1 signaling", "id": "GO:1904263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904263", "evidence": [ { "database": "UniProtKB", "id": "Q802U2", "url": "https://www.uniprot.org/uniprotkb/Q802U2" } ], "pmid": "" }, { "name": "heart contraction", "id": "GO:0060047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060047", "evidence": [ { "database": "UniProtKB", "id": "Q802U2", "url": "https://www.uniprot.org/uniprotkb/Q802U2" } ], "pmid": "" }, { "name": "cellular response to nutrient levels", "id": "GO:0031669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031669", "evidence": [ { "database": "UniProtKB", "id": "Q802U2", "url": "https://www.uniprot.org/uniprotkb/Q802U2" } ], "pmid": "" }, { "name": "venous blood vessel development", "id": "GO:0060841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060841", "evidence": [ { "database": "UniProtKB", "id": "Q802U2", "url": "https://www.uniprot.org/uniprotkb/Q802U2" } ], "pmid": "" }, { "name": "cellular response to amino acid starvation", "id": "GO:0034198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034198", "evidence": [ { "database": "UniProtKB", "id": "Q802U2", "url": "https://www.uniprot.org/uniprotkb/Q802U2" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q802U2", "url": "https://www.uniprot.org/uniprotkb/Q802U2" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q802U2", "url": "https://www.uniprot.org/uniprotkb/Q802U2" } ], "pmid": "" }, { "name": "GATOR2 complex", "id": "GO:0061700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061700", "evidence": [ { "database": "UniProtKB", "id": "Q802U2", "url": "https://www.uniprot.org/uniprotkb/Q802U2" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q802U2", "url": "https://www.uniprot.org/uniprotkb/Q802U2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q802W2-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q802W2", "url": "https://www.uniprot.org/uniprotkb/Q802W2" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 518, "chemical_mass": 56438.0, "gene_names": "aldh9a1b;TMABA-DH;TMABADH;aldh9a1b;aldh9a1;si:ch211-284b7.5", "protein_name": "4-trimethylaminobutyraldehyde dehydrogenase B", "disease": [], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q802W2", "url": "https://www.uniprot.org/uniprotkb/Q802W2" } ], "pmid": "" } ], "biological_process": [ { "name": "protein homotetramerization", "id": "GO:0051289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051289", "evidence": [ { "database": "UniProtKB", "id": "Q802W2", "url": "https://www.uniprot.org/uniprotkb/Q802W2" } ], "pmid": "" }, { "name": "aldehyde metabolic process", "id": "GO:0006081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006081", "evidence": [ { "database": "UniProtKB", "id": "Q802W2", "url": "https://www.uniprot.org/uniprotkb/Q802W2" } ], "pmid": "" }, { "name": "carnitine biosynthetic process", "id": "GO:0045329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045329", "evidence": [ { "database": "UniProtKB", "id": "Q802W2", "url": "https://www.uniprot.org/uniprotkb/Q802W2" } ], "pmid": "" } ], "molecular_function": [ { "name": "aminobutyraldehyde dehydrogenase (NAD+) activity", "id": "GO:0019145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019145", "evidence": [ { "database": "UniProtKB", "id": "Q802W2", "url": "https://www.uniprot.org/uniprotkb/Q802W2" } ], "pmid": "" }, { "name": "4-trimethylammoniobutyraldehyde dehydrogenase activity", "id": "GO:0047105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047105", "evidence": [ { "database": "UniProtKB", "id": "Q802W2", "url": "https://www.uniprot.org/uniprotkb/Q802W2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q802W2-1", "start_pos": "398", "end_pos": "398", "site_lbl": "Thr398", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 398, "start_aa": "Thr", "end_pos": 398, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr398", "evidence": [ { "id": "", "database": "GlyGen", "url": "https://data.glygen.org/" } ] } ] } ], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q803A0-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q803A0", "url": "https://www.uniprot.org/uniprotkb/Q803A0" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 829, "chemical_mass": 94548.0, "gene_names": "jade1;fi11a04;jade1;phf17;wu:fi11a04;zgc:55323", "protein_name": "Protein Jade-1", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q803A0", "url": "https://www.uniprot.org/uniprotkb/Q803A0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q803A0", "url": "https://www.uniprot.org/uniprotkb/Q803A0" } ], "pmid": "" }, { "name": "histone acetyltransferase complex", "id": "GO:0000123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000123", "evidence": [ { "database": "UniProtKB", "id": "Q803A0", "url": "https://www.uniprot.org/uniprotkb/Q803A0" } ], "pmid": "" } ], "biological_process": [ { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q803A0", "url": "https://www.uniprot.org/uniprotkb/Q803A0" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q803A0", "url": "https://www.uniprot.org/uniprotkb/Q803A0" } ], "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": "Q803A0", "url": "https://www.uniprot.org/uniprotkb/Q803A0" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q803A0", "url": "https://www.uniprot.org/uniprotkb/Q803A0" } ], "pmid": "" }, { "name": "regulation of canonical Wnt signaling pathway", "id": "GO:0060828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060828", "evidence": [ { "database": "UniProtKB", "id": "Q803A0", "url": "https://www.uniprot.org/uniprotkb/Q803A0" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q803A0", "url": "https://www.uniprot.org/uniprotkb/Q803A0" } ], "pmid": "" }, { "name": "histone reader activity", "id": "GO:0140566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140566", "evidence": [ { "database": "UniProtKB", "id": "Q803A0", "url": "https://www.uniprot.org/uniprotkb/Q803A0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q803A8-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q803A8", "url": "https://www.uniprot.org/uniprotkb/Q803A8" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 412, "chemical_mass": 46322.0, "gene_names": "wwox;wwox;zgc:55975", "protein_name": "WW domain-containing oxidoreductase", "disease": [ { "disease_id": "DOID:0080060", "name": "autosomal recessive spinocerebellar ataxia 12", "description": "An autosomal recessive cerebellar ataxia that is characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia and that has_material_basis_in homozygous mutation in the WWOX gene on chromosome 16q23.", "url": "https://disease-ontology.org/term/DOID:0080060", "evidence": [ { "id": "0080060", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080060" } ], "weight": 0.0 }, { "disease_id": "DOID:0080452", "name": "developmental and epileptic encephalopathy 28", "description": "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severe axial hypotonia, and profoundly impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the WWOX gene on chromosome 16q23.", "url": "https://disease-ontology.org/term/DOID:0080452", "evidence": [ { "id": "0080452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080452" } ], "weight": 0.0 }, { "disease_id": "DOID:14791", "name": "Leber congenital amaurosis", "description": "A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.", "url": "https://disease-ontology.org/term/DOID:14791", "evidence": [ { "id": "14791", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14791" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:1749", "name": "squamous cell carcinoma", "description": "A carcinoma that derives_from squamous epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1749", "evidence": [ { "id": "1749", "database": "AGR", "url": 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"biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A0R4IAH0-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IAH0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IAH0" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 1052, "chemical_mass": 116426.0, "gene_names": "hdac4;hdac4;wu:fa96d08;wu:fc56f08;zgc:152701", "protein_name": "Histone deacetylase", "disease": [ { "disease_id": "DOID:12704", "name": "ataxia telangiectasia", "description": "An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22.", "url": "https://disease-ontology.org/term/DOID:12704", "evidence": [ { "id": "12704", "database": "AGR", "url": 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is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size.", "url": "https://disease-ontology.org/term/DOID:3627", "evidence": [ { "id": "3627", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3627" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": 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regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IAH0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IAH0" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IAH0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IAH0" } ], "pmid": "" }, { "name": "neural crest cell migration", "id": "GO:0001755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001755", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IAH0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IAH0" } ], "pmid": "" }, { "name": "embryonic cranial skeleton morphogenesis", "id": "GO:0048701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048701", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IAH0", "url": 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"A0A0R4IAH0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IAH0" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IAH0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IAH0" } ], "pmid": "" }, { "name": "histone deacetylase complex", "id": "GO:0000118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000118", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IAH0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IAH0" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IAH0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IAH0" } ], "pmid": "" }, { "name": "histone deacetylase activity", "id": "GO:0004407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004407", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IAH0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IAH0" } ], "pmid": "" }, { "name": "histone deacetylase activity, hydrolytic mechanism", "id": "GO:0141221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141221", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IAH0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IAH0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A0R4IB13-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IB13", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IB13" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 727, "chemical_mass": 81884.0, "gene_names": "xrcc5;Ku80;im:7137560;si:ch211-239d11.4;xrcc5", "protein_name": "DNA repair protein Ku80", "disease": [ { "disease_id": "DOID:1749", "name": "squamous cell carcinoma", "description": "A carcinoma that derives_from squamous epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1749", "evidence": [ { "id": "1749", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ], "weight": 0.0 }, { "disease_id": "DOID:1993", "name": "rectum cancer", "description": "A colorectal cancer that is located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:1993", "evidence": [ { "id": "1993", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1993" } ], "weight": 0.0 }, { "disease_id": "DOID:2513", "name": "basal cell carcinoma", "description": "A skin carcinoma affecting basal cells.", "url": "https://disease-ontology.org/term/DOID:2513", "evidence": [ { "id": "2513", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2513" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IB13", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IB13" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": 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"UniProtKB", "id": "A0A0R4IB13", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IB13" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IB13", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IB13" } ], "pmid": "" }, { "name": "Ku70:Ku80 complex", "id": "GO:0043564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043564", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IB13", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IB13" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA recombination", "id": "GO:0006310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006310", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IB13", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IB13" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IB13", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IB13" } ], "pmid": "" }, { "name": "telomere maintenance", "id": "GO:0000723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000723", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IB13", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IB13" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator", "id": "GO:0042771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042771", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IB13", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IB13" } ], "pmid": "" }, { "name": "double-strand break repair via nonhomologous end joining", "id": "GO:0006303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006303", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IB13", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IB13" } ], "pmid": "" }, { "name": "response to ionizing radiation", "id": "GO:0010212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010212", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IB13", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IB13" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A0R4IB28-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IB28", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IB28" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 619, "chemical_mass": 69455.0, "gene_names": "hif1al;Hif-3alpha;hif1al;zgc:63965", "protein_name": "", "disease": [], "molecular_function": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IB28", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IB28" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IB28", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IB28" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IB28", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IB28" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IB28", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IB28" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": 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"biological_process": [ { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4ID09", "url": "https://www.uniprot.org/uniprotkb/A0A0R4ID09" } ], "pmid": "" }, { "name": "TORC1 signaling", "id": "GO:0038202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038202", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4ID09", "url": "https://www.uniprot.org/uniprotkb/A0A0R4ID09" } ], "pmid": "" }, { "name": "digestive tract development", "id": "GO:0048565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048565", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4ID09", "url": "https://www.uniprot.org/uniprotkb/A0A0R4ID09" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4ID09", "url": "https://www.uniprot.org/uniprotkb/A0A0R4ID09" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A0R4ID68-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A0R4ID68", "url": "https://www.uniprot.org/uniprotkb/A0A0R4ID68" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 779, "chemical_mass": 85020.0, "gene_names": "pfklb;pfklb;zgc:110298", "protein_name": "ATP-dependent 6-phosphofructokinase", "disease": [], "molecular_function": [ { "name": "fructose-6-phosphate binding", "id": "GO:0070095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070095", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4ID68", "url": "https://www.uniprot.org/uniprotkb/A0A0R4ID68" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4ID68", "url": "https://www.uniprot.org/uniprotkb/A0A0R4ID68" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4ID68", "url": "https://www.uniprot.org/uniprotkb/A0A0R4ID68" } ], "pmid": "" }, { "name": "6-phosphofructokinase activity", "id": "GO:0003872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003872", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4ID68", "url": "https://www.uniprot.org/uniprotkb/A0A0R4ID68" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4ID68", "url": "https://www.uniprot.org/uniprotkb/A0A0R4ID68" } ], "pmid": "" }, { "name": "6-phosphofructokinase complex", "id": "GO:0005945", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005945", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4ID68", "url": "https://www.uniprot.org/uniprotkb/A0A0R4ID68" } ], "pmid": "" } ], "biological_process": [ { "name": "fructose 1,6-bisphosphate metabolic process", "id": "GO:0030388", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030388", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4ID68", "url": "https://www.uniprot.org/uniprotkb/A0A0R4ID68" } ], "pmid": "" }, { "name": "canonical glycolysis", "id": "GO:0061621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061621", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4ID68", "url": "https://www.uniprot.org/uniprotkb/A0A0R4ID68" } ], "pmid": "" }, { "name": "fructose 6-phosphate metabolic process", "id": "GO:0006002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006002", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4ID68", "url": "https://www.uniprot.org/uniprotkb/A0A0R4ID68" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A0R4IDP3-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IDP3", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IDP3" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 328, "chemical_mass": 37352.0, "gene_names": "zdhhc15a;zgc:103780", "protein_name": "Palmitoyltransferase ZDHHC15A", "disease": [], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IDP3", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IDP3" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IDP3", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IDP3" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IDP3", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IDP3" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IDP3", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IDP3" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IDP3", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IDP3" } ], "pmid": "" }, { "name": "protein-cysteine S-palmitoyltransferase activity", "id": "GO:0019706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019706", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IDP3", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IDP3" } ], "pmid": "" }, { "name": "protein-cysteine S-myristoyltransferase activity", "id": "GO:0019705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019705", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IDP3", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IDP3" } ], "pmid": "" }, { "name": "protein-cysteine S-stearoyltransferase activity", "id": "GO:0140439", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140439", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IDP3", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IDP3" } ], "pmid": "" } ], "biological_process": [ { "name": "protein targeting to membrane", "id": "GO:0006612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006612", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IDP3", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IDP3" } ], "pmid": "" }, { "name": "protein localization to membrane", "id": "GO:0072657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072657", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IDP3", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IDP3" } ], "pmid": "" }, { "name": "synaptic vesicle maturation", "id": "GO:0016188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016188", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IDP3", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IDP3" } ], "pmid": "" }, { "name": "protein targeting to Golgi apparatus", "id": "GO:0140450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140450", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IDP3", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IDP3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M2BAL6-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BAL6", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BAL6" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], 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} ], "biological_process": [ { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BAL6", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BAL6" } ], "pmid": "" }, { "name": "gastrulation", "id": "GO:0007369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007369", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BAL6", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BAL6" } ], "pmid": "" }, { "name": "convergent extension involved in gastrulation", "id": "GO:0060027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060027", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BAL6", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BAL6" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BAL6", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BAL6" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BAL6", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BAL6" } ], "pmid": "" }, { "name": "regulation of MAPK cascade", "id": "GO:0043408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043408", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BAL6", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BAL6" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BAL6", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BAL6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A0A8M2BAL6-1", "start_pos": "831", "end_pos": "831", "site_lbl": "Thr831", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 831, "start_aa": "Thr", "end_pos": 831, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr831", "evidence": [ { "id": "", "database": "GlyGen", "url": "https://data.glygen.org/" } ] } ] } ], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A0R4IF65-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IF65", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IF65" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 889, "chemical_mass": 100048.0, "gene_names": "mcm2;cb737;chunp6905;mcm2", "protein_name": "DNA replication licensing factor MCM2", "disease": [ { "disease_id": "DOID:0110592", "name": "autosomal dominant nonsyndromic deafness 70", "description": "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the MCM2 gene on chromosome 3q21.", "url": "https://disease-ontology.org/term/DOID:0110592", "evidence": [ { "id": "0110592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110592" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IF65", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IF65" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IF65", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IF65" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IF65", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IF65" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", 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fatty acid biosynthetic process", "id": "GO:0006636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006636", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IT00", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IT00" } ], "pmid": "" }, { "name": "fatty acid elongation, monounsaturated fatty acid", "id": "GO:0034625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034625", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IT00", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IT00" } ], "pmid": "" }, { "name": "fatty acid elongation, polyunsaturated fatty acid", "id": "GO:0034626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034626", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IT00", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IT00" } ], "pmid": "" }, { "name": "fatty acid elongation, saturated fatty acid", "id": "GO:0019367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019367", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IT00", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0009922", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IT00", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IT00" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A0R4IT86-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IT86", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IT86" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 755, "chemical_mass": 81947.0, "gene_names": "kirrel3l;cb33;kirrel3l;kirrel3;sb:cb33;si:dkey-29g23.1;wu:fb74e02", "protein_name": "", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IT86", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IT86" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IT86", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IT86" } ], "pmid": "" } ], "molecular_function": [ { "name": "cell adhesion molecule binding", "id": "GO:0050839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050839", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IT86", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IT86" } ], "pmid": "" } ], "biological_process": [ { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IT86", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IT86" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IT86", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IT86" } ], "pmid": "" }, { "name": "myoblast fusion", "id": "GO:0007520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007520", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IT86", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IT86" } ], "pmid": "" }, { "name": "podocyte development", "id": "GO:0072015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072015", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IT86", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IT86" } ], "pmid": "" }, { "name": "glomerular basement membrane development", "id": "GO:0032836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032836", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IT86", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IT86" } ], "pmid": "" }, { "name": "pronephric glomerulus development", "id": "GO:0039021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0039021", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IT86", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IT86" } ], "pmid": "" }, { "name": "pronephric duct development", "id": "GO:0039022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0039022", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IT86", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IT86" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A0R4IUF0-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IUF0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IUF0" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 1570, "chemical_mass": 176778.0, "gene_names": "top2a;fc08c07;top2a;wu:fc08c07", "protein_name": "DNA topoisomerase 2", "disease": [ { "disease_id": "DOID:0060074", "name": "ductal carcinoma in situ", "description": "A breast carcinoma in situ that is 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"https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11624", "name": "penile benign neoplasm", "description": "", "url": "https://disease-ontology.org/term/DOID:11624", "evidence": [ { "id": "11624", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11624" } ], "weight": 0.0 }, { "disease_id": "DOID:1577", "name": "limited scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1577", "evidence": [ { "id": "1577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1577" } ], "weight": 0.0 }, { "disease_id": "DOID:1580", "name": "diffuse scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1580", "evidence": [ { "id": "1580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1580" } ], "weight": 0.0 }, { "disease_id": "DOID:2154", "name": "nephroblastoma", "description": "A kidney cancer that affects the kidneys and typically occuring in children.", "url": "https://disease-ontology.org/term/DOID:2154", "evidence": [ { "id": "2154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2154" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in situ that is located_in the uterine cervix.", "url": "https://disease-ontology.org/term/DOID:8991", "evidence": [ { "id": "8991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8991" } ], "weight": 0.0 } ], "biological_process": [ { "name": "resolution of meiotic recombination intermediates", "id": "GO:0000712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000712", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IUF0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IUF0" } ], "pmid": "" }, { "name": "chromosome segregation", "id": "GO:0007059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007059", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IUF0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IUF0" } ], "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": "A0A0R4IUF0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IUF0" } ], "pmid": "" }, { "name": "rhythmic process", "id": "GO:0048511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048511", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IUF0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IUF0" } ], "pmid": "" }, { "name": "animal organ regeneration", "id": "GO:0031100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031100", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IUF0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IUF0" } ], "pmid": "" }, { "name": "chromosome condensation", "id": "GO:0030261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030261", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IUF0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IUF0" } ], "pmid": "" }, { "name": "DNA topological change", "id": "GO:0006265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006265", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IUF0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IUF0" } ], "pmid": "" }, { "name": "sister chromatid segregation", "id": "GO:0000819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000819", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IUF0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IUF0" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) activity", "id": "GO:0003918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003918", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IUF0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IUF0" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IUF0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IUF0" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IUF0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IUF0" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { 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"reference_species": "Danio rerio [7955]" } ], "length": 441, "chemical_mass": 50485.0, "gene_names": "nr1h3;im:7141239;nr1h3;wu:fd59b01;zgc:113339;zgc:158542", "protein_name": "", "disease": [ { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:13001", "name": "carotid stenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:13001", "evidence": [ { "id": "13001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13001" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:5425", "name": "ovarian hyperstimulation syndrome", "description": "An ovarian disease that is characterized by cystic enlargement of the ovaries and a fluid shift from the intravascular to the third space and has_symptom abdominal pain, has_symptom nausea and has_symptom vomiting. This disease is an iatrogenic complication of assisted reproduction technology.", "url": "https://disease-ontology.org/term/DOID:5425", "evidence": [ { "id": "5425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5425" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6713", "name": "cerebrovascular disease", "description": "An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain.", "url": "https://disease-ontology.org/term/DOID:6713", "evidence": [ { "id": "6713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6713" } ], "weight": 0.0 }, { "disease_id": "DOID:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related 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"url": "https://www.uniprot.org/uniprotkb/A0A286YA30" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "A0A286YA30", "url": "https://www.uniprot.org/uniprotkb/A0A286YA30" } ], "pmid": "" }, { "name": "clathrin-coated vesicle membrane", "id": "GO:0030665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030665", "evidence": [ { "database": "UniProtKB", "id": "A0A286YA30", "url": "https://www.uniprot.org/uniprotkb/A0A286YA30" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "A0A286YA30", "url": "https://www.uniprot.org/uniprotkb/A0A286YA30" } ], "pmid": "" }, { "name": "dendritic spine membrane", "id": "GO:0032591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032591", "evidence": [ { "database": "UniProtKB", "id": "A0A286YA30", "url": "https://www.uniprot.org/uniprotkb/A0A286YA30" } ], "pmid": "" } ], "biological_process": [ { "name": "intrahepatic bile duct development", "id": "GO:0035622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035622", "evidence": [ { "database": "UniProtKB", "id": "A0A286YA30", "url": "https://www.uniprot.org/uniprotkb/A0A286YA30" } ], "pmid": "" }, { "name": "positive regulation of Wnt signaling pathway", "id": "GO:0030177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030177", "evidence": [ { "database": "UniProtKB", "id": "A0A286YA30", "url": "https://www.uniprot.org/uniprotkb/A0A286YA30" } ], "pmid": "" }, { "name": "apical protein localization", "id": "GO:0045176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045176", "evidence": [ { "database": "UniProtKB", "id": "A0A286YA30", "url": "https://www.uniprot.org/uniprotkb/A0A286YA30" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "A0A286YA30", "url": "https://www.uniprot.org/uniprotkb/A0A286YA30" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M9P1W1-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M9P1W1", "url": "https://www.uniprot.org/uniprotkb/A0A8M9P1W1" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 4778, "chemical_mass": 544827.0, "gene_names": "pleca;fa95h11;plec1-like;pleca;sb:eu420;si:dkey-151c10.1;wu:fa95h11", "protein_name": "Plectin", "disease": [ { "disease_id": "DOID:0060736", "name": "epidermolysis bullosa simplex 5A Ogna type", "description": "An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has_material_basis_in heterozygous mutation in the PLEC1 gene on chromosome 8q24.", "url": "https://disease-ontology.org/term/DOID:0060736", "evidence": [ { "id": "0060736", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060736" } ], "weight": 0.0 }, { "disease_id": "DOID:0090017", "name": "epidermolysis bullosa simplex with muscular dystrophy", "description": "An syndrome characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24.", "url": "https://disease-ontology.org/term/DOID:0090017", "evidence": [ { "id": "0090017", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090017" } ], "weight": 0.0 }, { "disease_id": "DOID:0110285", "name": "autosomal recessive limb-girdle muscular dystrophy type 2Q", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the PLEC1 gene.", "url": "https://disease-ontology.org/term/DOID:0110285", "evidence": [ { "id": "0110285", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110285" } ], "weight": 0.0 }, { "disease_id": "DOID:4644", "name": "epidermolysis bullosa simplex", "description": "An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin.", "url": "https://disease-ontology.org/term/DOID:4644", "evidence": [ { "id": "4644", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4644" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9P1W1", "url": "https://www.uniprot.org/uniprotkb/A0A8M9P1W1" } ], "pmid": "" } ], "biological_process": [ { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9P1W1", "url": "https://www.uniprot.org/uniprotkb/A0A8M9P1W1" } ], "pmid": "" }, { "name": "establishment of skin barrier", "id": "GO:0061436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061436", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9P1W1", "url": "https://www.uniprot.org/uniprotkb/A0A8M9P1W1" } ], "pmid": "" }, { "name": "heart contraction", "id": "GO:0060047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060047", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9P1W1", "url": "https://www.uniprot.org/uniprotkb/A0A8M9P1W1" } ], "pmid": "" }, { "name": "intermediate filament cytoskeleton organization", "id": "GO:0045104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045104", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9P1W1", "url": "https://www.uniprot.org/uniprotkb/A0A8M9P1W1" } ], "pmid": "" }, { "name": "desmosome organization", "id": "GO:0002934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002934", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9P1W1", "url": "https://www.uniprot.org/uniprotkb/A0A8M9P1W1" } ], "pmid": "" }, { "name": "fin regeneration", "id": "GO:0031101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031101", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9P1W1", "url": "https://www.uniprot.org/uniprotkb/A0A8M9P1W1" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9P1W1", "url": "https://www.uniprot.org/uniprotkb/A0A8M9P1W1" } ], "pmid": "" }, { "name": "skeletal muscle tissue development", "id": "GO:0007519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007519", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9P1W1", "url": "https://www.uniprot.org/uniprotkb/A0A8M9P1W1" } ], "pmid": "" } ], "cellular_component": [ { "name": "podosome", "id": "GO:0002102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002102", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9P1W1", "url": "https://www.uniprot.org/uniprotkb/A0A8M9P1W1" } ], "pmid": "" }, { "name": "hemidesmosome", "id": "GO:0030056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030056", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9P1W1", "url": "https://www.uniprot.org/uniprotkb/A0A8M9P1W1" } ], "pmid": "" }, { "name": "desmosome", "id": "GO:0030057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030057", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9P1W1", "url": "https://www.uniprot.org/uniprotkb/A0A8M9P1W1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A2R8Q3S9-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A2R8Q3S9", "url": "https://www.uniprot.org/uniprotkb/A0A2R8Q3S9" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 609, "chemical_mass": 69946.0, "gene_names": "clcc1;clcc1;unm_sa44388", "protein_name": "Chloride channel CLIC-like protein 1", "disease": [ { "disease_id": "DOID:0110355", "name": "retinitis pigmentosa 32", "description": "A retinitis pigmentosa that has_material_basis_inhomozygous mutation in the CLCC1 gene on chromosome 1p13.", "url": "https://disease-ontology.org/term/DOID:0110355", "evidence": [ { "id": "0110355", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110355" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "A0A2R8Q3S9", "url": "https://www.uniprot.org/uniprotkb/A0A2R8Q3S9" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "A0A2R8Q3S9", "url": "https://www.uniprot.org/uniprotkb/A0A2R8Q3S9" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A0A2R8Q3S9", "url": "https://www.uniprot.org/uniprotkb/A0A2R8Q3S9" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "A0A2R8Q3S9", "url": "https://www.uniprot.org/uniprotkb/A0A2R8Q3S9" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "A0A2R8Q3S9", "url": "https://www.uniprot.org/uniprotkb/A0A2R8Q3S9" } ], "pmid": "" }, { "name": "chloride channel complex", "id": "GO:0034707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034707", "evidence": [ { "database": "UniProtKB", "id": "A0A2R8Q3S9", "url": "https://www.uniprot.org/uniprotkb/A0A2R8Q3S9" } ], "pmid": "" } ], "biological_process": [ { "name": "retina development in camera-type eye", "id": "GO:0060041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060041", "evidence": [ { "database": "UniProtKB", "id": "A0A2R8Q3S9", "url": "https://www.uniprot.org/uniprotkb/A0A2R8Q3S9" } ], "pmid": "" } ], "molecular_function": [ { "name": "chloride channel activity", "id": "GO:0005254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005254", "evidence": [ { "database": "UniProtKB", "id": "A0A2R8Q3S9", "url": "https://www.uniprot.org/uniprotkb/A0A2R8Q3S9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A2R8Q685-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A2R8Q685", "url": "https://www.uniprot.org/uniprotkb/A0A2R8Q685" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 834, "chemical_mass": 93242.0, "gene_names": "kcnb1;kcnb1", "protein_name": "Potassium voltage-gated channel subfamily B member 1", "disease": [ { "disease_id": "DOID:0080461", "name": "developmental and epileptic encephalopathy 26", "description": "A developmental and epileptic encephalopathy characterized by onset in the first years of life of seizures, developmental delay, intellectual disability, poor speech, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KCNB1 gene on chromosome 20q13.", "url": "https://disease-ontology.org/term/DOID:0080461", "evidence": [ { "id": "0080461", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080461" } ], "weight": 0.0 }, { "disease_id": "DOID:0112202", "name": "developmental and epileptic encephalopathy", "description": "An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood.", "url": "https://disease-ontology.org/term/DOID:0112202", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A0A2R8Q685", "url": "https://www.uniprot.org/uniprotkb/A0A2R8Q685" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "A0A2R8Q685", "url": "https://www.uniprot.org/uniprotkb/A0A2R8Q685" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "A0A2R8Q685", "url": "https://www.uniprot.org/uniprotkb/A0A2R8Q685" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "A0A2R8Q685", "url": "https://www.uniprot.org/uniprotkb/A0A2R8Q685" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "A0A2R8Q685", "url": "https://www.uniprot.org/uniprotkb/A0A2R8Q685" } ], "pmid": "" }, { "name": "voltage-gated potassium channel complex", "id": "GO:0008076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008076", "evidence": [ { "database": "UniProtKB", "id": "A0A2R8Q685", "url": "https://www.uniprot.org/uniprotkb/A0A2R8Q685" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "A0A2R8Q685", "url": "https://www.uniprot.org/uniprotkb/A0A2R8Q685" } ], "pmid": "" }, { "name": "lateral plasma membrane", "id": "GO:0016328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016328", "evidence": [ { "database": "UniProtKB", "id": "A0A2R8Q685", "url": "https://www.uniprot.org/uniprotkb/A0A2R8Q685" } ], "pmid": "" } ], "biological_process": [ { "name": "protein homooligomerization", "id": "GO:0051260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051260", "evidence": [ { "database": "UniProtKB", "id": "A0A2R8Q685", "url": "https://www.uniprot.org/uniprotkb/A0A2R8Q685" } ], "pmid": "" }, { "name": "action potential", "id": "GO:0001508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001508", "evidence": [ { "database": "UniProtKB", "id": "A0A2R8Q685", "url": "https://www.uniprot.org/uniprotkb/A0A2R8Q685" } ], "pmid": "" }, { "name": "ventricular system development", "id": "GO:0021591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021591", "evidence": [ { "database": "UniProtKB", "id": 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"evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:5520", "name": "head and neck squamous cell carcinoma", "description": "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck.", "url": "https://disease-ontology.org/term/DOID:5520", "evidence": [ { "id": "5520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5520" } ], "weight": 0.0 }, { "disease_id": "DOID:6705", "name": "gastric body carcinoma", "description": "", "url": "https://disease-ontology.org/term/DOID:6705", "evidence": [ { "id": "6705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6705" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": 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melanocytes.", "url": "https://disease-ontology.org/term/DOID:8923", "evidence": [ { "id": "8923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8923" } ], "weight": 0.0 }, { "disease_id": "DOID:8924", "name": "autoimmune thrombocytopenic purpura", "description": "A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies.", "url": "https://disease-ontology.org/term/DOID:8924", "evidence": [ { "id": "8924", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8924" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": 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"" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BEF6", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BEF6" } ], "pmid": "" }, { "name": "DNA-methyltransferase activity", "id": "GO:0009008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009008", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BEF6", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BEF6" } ], "pmid": "" }, { "name": "DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates", "id": "GO:0051718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051718", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BEF6", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BEF6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BEF6", "url": 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female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 } ], "biological_process": [ { "name": "inner ear auditory receptor cell differentiation", "id": "GO:0042491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042491", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1N1X8", "url": "https://www.uniprot.org/uniprotkb/A0A8M1N1X8" } ], "pmid": "" }, { "name": "glial cell development", "id": "GO:0021782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021782", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1N1X8", "url": "https://www.uniprot.org/uniprotkb/A0A8M1N1X8" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1N1X8", "url": 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"evidence": [ { "database": "UniProtKB", "id": "A0A8M1N1X8", "url": "https://www.uniprot.org/uniprotkb/A0A8M1N1X8" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1N1X8", "url": "https://www.uniprot.org/uniprotkb/A0A8M1N1X8" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1N1X8", "url": "https://www.uniprot.org/uniprotkb/A0A8M1N1X8" } ], "pmid": "" }, { "name": "microfilament motor activity", "id": "GO:0000146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000146", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1N1X8", "url": "https://www.uniprot.org/uniprotkb/A0A8M1N1X8" } ], "pmid": "" }, { "name": "cytoskeletal motor activity", "id": "GO:0003774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003774", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1N1X8", "url": "https://www.uniprot.org/uniprotkb/A0A8M1N1X8" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1N1X8", "url": "https://www.uniprot.org/uniprotkb/A0A8M1N1X8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1N1X8", "url": "https://www.uniprot.org/uniprotkb/A0A8M1N1X8" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1N1X8", "url": "https://www.uniprot.org/uniprotkb/A0A8M1N1X8" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": 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has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1.", "url": "https://disease-ontology.org/term/DOID:0111602", "evidence": [ { "id": "0111602", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111602" } ], "weight": 0.0 }, { "disease_id": "DOID:0111605", "name": "distal arthrogryposis type 2A", "description": "A Freeman-Sheldon syndrome that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1.", "url": "https://disease-ontology.org/term/DOID:0111605", "evidence": [ { "id": "0111605", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111605" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:114", "name": "heart disease", "description": "A cardiovascular system disease that involves the heart.", "url": "https://disease-ontology.org/term/DOID:114", "evidence": [ { "id": "114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:114" } ], "weight": 0.0 }, { "disease_id": "DOID:11720", "name": "distal myopathy", "description": "A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands.", "url": "https://disease-ontology.org/term/DOID:11720", "evidence": [ { "id": "11720", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11720" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID:1682", "name": "congenital heart disease", "description": "A physical disorder that is characterized by problems with the heart's structure that are present at birth.", "url": "https://disease-ontology.org/term/DOID:1682", "evidence": [ { "id": "1682", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1682" } ], "weight": 0.0 }, { "disease_id": "DOID:2106", "name": "myotonia congenita", "description": "A muscle tissue disease that is characterized by slow muscle relaxation associated with hyperexcitation of the muscle fibres.", "url": "https://disease-ontology.org/term/DOID:2106", "evidence": [ { "id": "2106", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2106" } ], "weight": 0.0 }, { "disease_id": "DOID:3429", "name": "inclusion body myositis", "description": "A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle.", "url": "https://disease-ontology.org/term/DOID:3429", "evidence": [ { "id": "3429", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3429" } ], "weight": 0.0 }, { "disease_id": "DOID:397", "name": "restrictive cardiomyopathy", "description": "An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium.", "url": "https://disease-ontology.org/term/DOID:397", "evidence": [ { "id": "397", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:397" } ], "weight": 0.0 }, { "disease_id": "DOID:423", "name": "myopathy", "description": "A muscular disease in which the muscle fibers do not function resulting in muscular weakness.", "url": "https://disease-ontology.org/term/DOID:423", "evidence": [ { "id": "423", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:423" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:9955", "name": "hypoplastic left heart syndrome", "description": "A congenital heart disease characterized by abnormal development of the left-sided structures of the heart.", "url": "https://disease-ontology.org/term/DOID:9955", "evidence": [ { "id": "9955", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9955" } ], "weight": 0.0 } ], "biological_process": [ { "name": "cardiac ventricle development", "id": "GO:0003231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003231", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NBP6", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NBP6" } ], "pmid": "" }, { "name": "muscle filament sliding", "id": "GO:0030049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030049", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NBP6", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NBP6" } ], "pmid": "" }, { "name": "cardiac muscle contraction", "id": "GO:0060048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060048", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NBP6", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NBP6" } ], "pmid": "" }, { "name": "regulation of cardiac muscle hypertrophy", "id": "GO:0010611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010611", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NBP6", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NBP6" } ], "pmid": "" }, { "name": "adult heart development", "id": "GO:0007512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007512", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NBP6", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NBP6" } ], "pmid": "" } ], "molecular_function": [ { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NBP6", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NBP6" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NBP6", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NBP6" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NBP6", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NBP6" } ], "pmid": "" }, { "name": "microfilament motor activity", "id": "GO:0000146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000146", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NBP6", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NBP6" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NBP6", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NBP6" } ], "pmid": "" }, { "name": "sarcomere", "id": "GO:0030017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030017", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NBP6", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NBP6" } ], "pmid": "" }, { "name": "myosin filament", "id": "GO:0032982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032982", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NBP6", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NBP6" } ], "pmid": "" }, { "name": "myosin II complex", "id": "GO:0016460", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016460", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NBP6", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NBP6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M3AHJ9-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AHJ9", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AHJ9" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 546, "chemical_mass": 63366.0, "gene_names": "inpp5ka;inpp5ka;inpp5k;zgc:162883", "protein_name": "", "disease": [ { "disease_id": "DOID:0050588", "name": "muscular dystrophy-dystroglycanopathy type B1", "description": "A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase.", "url": "https://disease-ontology.org/term/DOID:0050588", "evidence": [ { "id": "0050588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050588" } ], "weight": 0.0 }, { "disease_id": "DOID:0080197", "name": "congenital muscular dystrophy with cataracts and intellectual disability", "description": "A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:0080197", "evidence": [ { "id": "0080197", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080197" } ], "weight": 0.0 } ], "biological_process": [ { "name": "skeletal muscle fiber development", "id": "GO:0048741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048741", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AHJ9", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AHJ9" } ], "pmid": "" }, { "name": "phosphatidylinositol dephosphorylation", "id": "GO:0046856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046856", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AHJ9", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AHJ9" } ], "pmid": "" }, { "name": "neuromuscular junction development, skeletal muscle fiber", "id": "GO:0098529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098529", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AHJ9", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AHJ9" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AHJ9", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AHJ9" } ], "pmid": "" }, { "name": "lens development in camera-type eye", "id": "GO:0002088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002088", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AHJ9", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AHJ9" } ], "pmid": "" }, { "name": "somite development", "id": "GO:0061053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061053", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AHJ9", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AHJ9" } ], "pmid": "" }, { "name": "negative regulation of insulin receptor signaling pathway", "id": "GO:0046627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046627", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AHJ9", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AHJ9" } ], "pmid": "" }, { "name": "negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051898", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AHJ9", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AHJ9" } ], "pmid": "" }, { "name": "negative regulation of glycogen biosynthetic process", "id": "GO:0045719", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045719", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AHJ9", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AHJ9" } ], "pmid": "" } ], "molecular_function": [ { "name": "phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity", "id": "GO:0004439", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004439", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AHJ9", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AHJ9" } ], "pmid": "" }, { "name": "phosphatase activity", "id": "GO:0016791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016791", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AHJ9", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AHJ9" } ], "pmid": "" }, { "name": "inositol bisphosphate phosphatase activity", "id": "GO:0016312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016312", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AHJ9", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AHJ9" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity", "id": "GO:0034485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034485", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AHJ9", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AHJ9" } ], "pmid": "" }, { "name": "inositol trisphosphate phosphatase activity", "id": "GO:0046030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046030", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AHJ9", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AHJ9" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AHJ9", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AHJ9" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AHJ9", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AHJ9" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AHJ9", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AHJ9" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AHJ9", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AHJ9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M1NI50-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NI50", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NI50" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 460, "chemical_mass": 52305.0, "gene_names": "irf4a;irf4a;si:ch73-170d1.2", "protein_name": "", "disease": [ { "disease_id": "DOID:0050744", "name": "anaplastic large cell lymphoma", "description": "A non-Hodgkin lymphoma involving aberrant T-cells.", "url": "https://disease-ontology.org/term/DOID:0050744", "evidence": [ { "id": "0050744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050744" } ], "weight": 0.0 }, { "disease_id": "DOID:0050745", "name": "diffuse large B-cell lymphoma", "description": "A large B-cell lymphoma that is consisting of medium-sized to large B cells with a diffuse growth pattern.", "url": "https://disease-ontology.org/term/DOID:0050745", "evidence": [ { "id": "0050745", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050745" } ], "weight": 0.0 }, { "disease_id": "DOID:0050749", "name": "peripheral T-cell lymphoma", "description": "A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus.", "url": "https://disease-ontology.org/term/DOID:0050749", "evidence": [ { "id": "0050749", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050749" } ], "weight": 0.0 }, { "disease_id": "DOID:0050873", "name": "follicular lymphoma", "description": "A B-cell lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and has_material_basis_in follicle center B-cells (centrocytes and centroblasts).", "url": "https://disease-ontology.org/term/DOID:0050873", "evidence": [ { "id": "0050873", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050873" } ], "weight": 0.0 }, { "disease_id": "DOID:0060901", "name": "lymphoplasmacytic lymphoma", "description": "A B-cell lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.", "url": "https://disease-ontology.org/term/DOID:0060901", "evidence": [ { "id": "0060901", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060901" } ], "weight": 0.0 }, { "disease_id": "DOID:0061125", "name": "immunodeficiency 131", "description": "A primary immunodeficiency disease that is characterized by low IgM, IgG, and IgA serum levels, low plasma cell counts, abnormal T-cell subsets, and early graying of hair that has_material_basis_in heterozygous or homozygous mutation in the IRF4 gene on chromosome 6p25.", "url": "https://disease-ontology.org/term/DOID:0061125", "evidence": [ { "id": "0061125", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061125" } ], "weight": 0.0 }, { "disease_id": "DOID:10123", "name": "pigmentation disease", "description": "A skin disease that is characterized by discoloration of the skin.", "url": "https://disease-ontology.org/term/DOID:10123", "evidence": [ { "id": "10123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10123" } ], "weight": 0.0 }, { "disease_id": "DOID:1040", "name": "chronic lymphocytic leukemia", "description": "A lymphocytic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood.", "url": "https://disease-ontology.org/term/DOID:1040", "evidence": [ { "id": "1040", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1040" } ], "weight": 0.0 }, { "disease_id": "DOID:1240", "name": "leukemia", "description": "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.", "url": "https://disease-ontology.org/term/DOID:1240", "evidence": [ { "id": "1240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1240" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NI50", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NI50" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NI50", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NI50" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NI50", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NI50" } ], "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": "A0A8M1NI50", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NI50" } ], "pmid": "" }, { "name": "lymphoid progenitor cell differentiation", "id": "GO:0002320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002320", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NI50", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NI50" } ], "pmid": "" }, { "name": "negative regulation of myeloid cell differentiation", "id": "GO:0045638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045638", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NI50", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NI50" } ], "pmid": "" }, { "name": "immune system process", "id": "GO:0002376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002376", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NI50", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NI50" } ], "pmid": "" }, { "name": "lymphoid lineage cell migration into thymus", "id": "GO:0097535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097535", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NI50", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NI50" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NI50", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NI50" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NI50", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NI50" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NI50", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NI50" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NI50", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NI50" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NI50", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NI50" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M1NJ75-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NJ75", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NJ75" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 752, "chemical_mass": 83023.0, "gene_names": "acsbg2;acsbg2;fj55d04;fk81d02;im:7046047;sb:cb76;si:dkey-240a9.3;wu:fj55d04;wu:fk81d02", "protein_name": "Long-chain-fatty-acid--CoA ligase ACSBG2", "disease": [ { "disease_id": "DOID:10588", "name": "adrenoleukodystrophy", "description": "A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death.", "url": "https://disease-ontology.org/term/DOID:10588", "evidence": [ { "id": "10588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10588" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NJ75", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NJ75" } ], "pmid": "" }, { "name": "long-chain fatty acid-CoA ligase activity", "id": "GO:0004467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004467", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NJ75", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NJ75" } ], "pmid": "" }, { "name": "arachidonate-CoA ligase activity", "id": "GO:0047676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047676", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NJ75", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NJ75" } ], "pmid": "" }, { "name": "ligase activity", "id": "GO:0016874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016874", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NJ75", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NJ75" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NJ75", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NJ75" } ], "pmid": "" } ], "biological_process": [ { "name": "long-chain fatty acid biosynthetic process", "id": "GO:0042759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042759", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NJ75", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NJ75" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M1NUM7-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NUM7", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NUM7" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 740, "chemical_mass": 83240.0, "gene_names": "fgfr1b;fgfr1b;si:ch211-180b9.1", "protein_name": "Fibroblast growth factor receptor", "disease": [ { "disease_id": "DOID:0050852", "name": "limb ischemia", "description": "An ischemia that is characterized by low blood supply to tissues in the limb due to interruption in the arterial blood supply.", "url": "https://disease-ontology.org/term/DOID:0050852", "evidence": [ { "id": "0050852", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050852" } ], "weight": 0.0 }, { "disease_id": "DOID:0060597", "name": "atypical chronic myeloid leukemia, BCR-ABL1 negative", "description": "A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene.", "url": "https://disease-ontology.org/term/DOID:0060597", "evidence": [ { "id": "0060597", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060597" } ], "weight": 0.0 }, { "disease_id": "DOID:0070004", "name": "myeloid neoplasm", "description": "A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages.", "url": "https://disease-ontology.org/term/DOID:0070004", "evidence": [ { "id": "0070004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070004" } ], "weight": 0.0 }, { "disease_id": "DOID:0080001", "name": "bone disease", "description": "A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function.", "url": "https://disease-ontology.org/term/DOID:0080001", "evidence": [ { "id": "0080001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080001" } ], "weight": 0.0 }, { "disease_id": "DOID:0081312", "name": "T-cell non-Hodgkin lymphoma", "description": "A non-Hodgkin lymphoma of T-cell lineage.", "url": "https://disease-ontology.org/term/DOID:0081312", "evidence": [ { "id": "0081312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081312" } ], "weight": 0.0 }, { "disease_id": "DOID:0090078", "name": "hypogonadotropic hypogonadism 7 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported.", "url": "https://disease-ontology.org/term/DOID:0090078", "evidence": [ { "id": "0090078", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090078" } ], "weight": 0.0 }, { "disease_id": "DOID:0090083", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes.", "url": "https://disease-ontology.org/term/DOID:0090083", "evidence": [ { "id": "0090083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090083" } ], "weight": 0.0 }, { "disease_id": "DOID:0111337", "name": "Jackson-Weiss syndrome", "description": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13.", "url": "https://disease-ontology.org/term/DOID:0111337", "evidence": [ { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" } ], "weight": 0.0 }, { "disease_id": "DOID:0111532", "name": "osteoglophonic dysplasia", "description": "An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23.", "url": "https://disease-ontology.org/term/DOID:0111532", "evidence": [ { "id": "0111532", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111532" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear.", "url": "https://disease-ontology.org/term/DOID:10754", "evidence": [ { "id": "10754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:12689", "name": "acoustic neuroma", "description": "", "url": "https://disease-ontology.org/term/DOID:12689", "evidence": [ { "id": "12689", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12689" } ], "weight": 0.0 }, { "disease_id": "DOID:12960", "name": "acrocephalosyndactylia", "description": "A synostosis that results_in craniosynostosis and syndactyly.", "url": "https://disease-ontology.org/term/DOID:12960", "evidence": [ { "id": "12960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12960" } ], "weight": 0.0 }, { "disease_id": "DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.", "url": "https://disease-ontology.org/term/DOID:14705", "evidence": [ { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:403", "name": "mouth disease", "description": "A gastrointestinal system disease that is located_in the mouth.", "url": "https://disease-ontology.org/term/DOID:403", "evidence": [ { "id": "403", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:403" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4783", "name": "mesangial proliferative glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:4783", "evidence": [ { "id": "4783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4783" } ], "weight": 0.0 }, { "disease_id": "DOID:5015", "name": "fibrolamellar carcinoma", "description": "A hepatocellular carcinoma characterized microscopically by laminated fibrous layers interspersed between the tumour cells. The polygonal, deeply eosinophilic tumor cells arise in non-cirrhotic livers.", "url": "https://disease-ontology.org/term/DOID:5015", "evidence": [ { "id": "5015", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5015" } ], "weight": 0.0 }, { "disease_id": "DOID:5327", "name": "retinal detachment", "description": "", "url": "https://disease-ontology.org/term/DOID:5327", "evidence": [ { "id": "5327", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5327" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:8692", "name": "myeloid leukemia", "description": "A leukemia that is located_in myeloid tissue.", "url": "https://disease-ontology.org/term/DOID:8692", "evidence": [ { "id": "8692", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8692" } ], "weight": 0.0 }, { "disease_id": "DOID:8725", "name": "vascular dementia", "description": "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.", "url": "https://disease-ontology.org/term/DOID:8725", "evidence": [ { "id": "8725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9296", "name": "cleft lip", "description": "An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences.", "url": "https://disease-ontology.org/term/DOID:9296", "evidence": [ { "id": "9296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9296" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "fibroblast growth factor receptor activity", "id": "GO:0005007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005007", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NUM7", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NUM7" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NUM7", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NUM7" } ], "pmid": "" }, { "name": "fibroblast growth factor binding", "id": "GO:0017134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017134", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NUM7", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NUM7" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NUM7", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NUM7" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NUM7", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NUM7" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NUM7", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NUM7" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NUM7", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NUM7" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NUM7", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NUM7" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NUM7", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NUM7" } ], "pmid": "" }, { "name": "mesoderm development", "id": "GO:0007498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007498", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NUM7", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NUM7" } ], "pmid": "" }, { "name": "fibroblast growth factor receptor signaling pathway", "id": "GO:0008543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008543", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NUM7", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NUM7" } ], "pmid": "" }, { "name": "post-anal tail morphogenesis", "id": "GO:0036342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036342", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NUM7", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NUM7" } ], "pmid": "" }, { "name": "pectoral fin development", "id": "GO:0033339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033339", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NUM7", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NUM7" } ], "pmid": "" }, { "name": "regulation of cell differentiation", "id": "GO:0045595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045595", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1NUM7", "url": "https://www.uniprot.org/uniprotkb/A0A8M1NUM7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M2BKD3-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BKD3", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BKD3" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 299, "chemical_mass": 33030.0, "gene_names": "npm1b;npm1b;npm4", "protein_name": "Nucleophosmin", "disease": [ { "disease_id": "DOID:0050908", "name": "myelodysplastic syndrome", "description": "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.", "url": "https://disease-ontology.org/term/DOID:0050908", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ], "weight": 0.0 }, { "disease_id": "DOID:5426", "name": "primary ovarian insufficiency", "description": "An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40.", "url": "https://disease-ontology.org/term/DOID:5426", "evidence": [ { "id": "5426", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5426" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BKD3", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BKD3" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BKD3", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BKD3" } ], "pmid": "" }, { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BKD3", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BKD3" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BKD3", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BKD3" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BKD3", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BKD3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BKD3", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BKD3" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BKD3", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BKD3" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BKD3", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BKD3" } ], "pmid": "" } ], "biological_process": [ { "name": "hemopoiesis", "id": "GO:0030097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030097", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BKD3", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BKD3" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BKD3", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BKD3" } ], "pmid": "" }, { "name": "regulation of centrosome duplication", "id": "GO:0010824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010824", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BKD3", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BKD3" } ], "pmid": "" }, { "name": "ribosomal large subunit export from nucleus", "id": "GO:0000055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000055", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BKD3", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BKD3" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BKD3", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BKD3" } ], "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": "A0A8M2BKD3", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BKD3" } ], "pmid": "" }, { "name": "ribosomal large subunit biogenesis", "id": "GO:0042273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042273", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BKD3", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BKD3" } ], "pmid": "" }, { "name": "ribosomal small subunit export from nucleus", "id": "GO:0000056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000056", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BKD3", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BKD3" } ], "pmid": "" }, { "name": "ribosomal small subunit biogenesis", "id": "GO:0042274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042274", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BKD3", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BKD3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M1P3D4-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P3D4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P3D4" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 277, "chemical_mass": 31948.0, "gene_names": "pnpo;im:7138360;pnpo", "protein_name": "pyridoxal 5'-phosphate synthase", "disease": [ { "disease_id": "DOID:0111329", "name": "pyridoxamine 5'-phosphate oxidase deficiency", "description": "A vitamin metabolic disorder characterized by vitamin B6 deficienc resulting in neonatal-onset of severe seizures that can be controlled with pyridoxal 5'-phosphate treatment that has_material_basis_in homozygous or compound heterozygous mutation in PNPO on 17q21.32.", "url": "https://disease-ontology.org/term/DOID:0111329", "evidence": [ { "id": "0111329", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111329" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 } ], "biological_process": [ { "name": "glutamate metabolic process", "id": "GO:0006536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006536", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P3D4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P3D4" } ], "pmid": "" }, { "name": "swimming behavior", "id": "GO:0036269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036269", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P3D4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P3D4" } ], "pmid": "" }, { "name": "gamma-aminobutyric acid metabolic process", "id": "GO:0009448", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009448", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P3D4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P3D4" } ], "pmid": "" }, { "name": "pyridoxine biosynthetic process", "id": "GO:0008615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008615", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P3D4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P3D4" } ], "pmid": "" }, { "name": "glycine metabolic process", "id": "GO:0006544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006544", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P3D4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P3D4" } ], "pmid": "" }, { "name": "pyridoxal phosphate biosynthetic process", "id": "GO:0042823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042823", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P3D4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P3D4" } ], "pmid": "" }, { "name": "pyridoxal biosynthetic process", "id": "GO:0042821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042821", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P3D4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P3D4" } ], "pmid": "" } ], "molecular_function": [ { "name": "FMN binding", "id": "GO:0010181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010181", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P3D4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P3D4" } ], "pmid": "" }, { "name": "pyridoxamine phosphate oxidase activity", "id": "GO:0004733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004733", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P3D4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P3D4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M1P3S4-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P3S4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P3S4" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 256, "chemical_mass": 29668.0, "gene_names": "ntf3;NT-3;ntf3;wu:fl98d04", "protein_name": "Neurotrophin-3", "disease": [ { "disease_id": "DOID:0110106", "name": "atrial heart septal defect 1", "description": "An atrial heart septal defect type 1 associated with variation in the region 5p.", "url": "https://disease-ontology.org/term/DOID:0110106", "evidence": [ { "id": "0110106", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110106" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10908", "name": "hydrocephalus", "description": "A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head.", "url": "https://disease-ontology.org/term/DOID:10908", "evidence": [ { "id": "10908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10908" } ], "weight": 0.0 }, { "disease_id": "DOID:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:5154", "name": "borna disease", "description": "A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus (Orthobornavirus bornaense), which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment.", "url": "https://disease-ontology.org/term/DOID:5154", "evidence": [ { "id": "5154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5154" } ], "weight": 0.0 }, { "disease_id": "DOID:6419", "name": "tetralogy of Fallot", "description": "", "url": "https://disease-ontology.org/term/DOID:6419", "evidence": [ { "id": "6419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6419" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P3S4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P3S4" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P3S4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P3S4" } ], "pmid": "" } ], "biological_process": [ { "name": "cell surface receptor protein tyrosine kinase signaling pathway", "id": "GO:0007169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007169", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P3S4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P3S4" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P3S4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P3S4" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P3S4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P3S4" } ], "pmid": "" }, { "name": "peripheral nervous system development", "id": "GO:0007422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007422", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P3S4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P3S4" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P3S4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P3S4" } ], "pmid": "" }, { "name": "negative regulation of programmed cell death", "id": "GO:0043069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043069", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P3S4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P3S4" } ], "pmid": "" }, { "name": "nerve development", "id": "GO:0021675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021675", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P3S4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P3S4" } ], "pmid": "" }, { "name": "nerve growth factor signaling pathway", "id": "GO:0038180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038180", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P3S4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P3S4" } ], "pmid": "" } ], "molecular_function": [ { "name": "growth factor activity", "id": "GO:0008083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008083", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P3S4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P3S4" } ], "pmid": "" }, { "name": "nerve growth factor receptor binding", "id": "GO:0005163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005163", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P3S4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P3S4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M1P467-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P467", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P467" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 127, "chemical_mass": 14732.0, "gene_names": "agrp;agrp1;agrp;si:dkey-193l8.2", "protein_name": "Agouti-related protein", "disease": [ { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P467", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P467" } ], "pmid": "" }, { "name": "Golgi lumen", "id": "GO:0005796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005796", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P467", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P467" } ], "pmid": "" } ], "biological_process": [ { "name": "neuropeptide signaling pathway", "id": "GO:0007218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007218", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P467", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P467" } ], "pmid": "" }, { "name": "regulation of growth", "id": "GO:0040008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040008", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P467", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P467" } ], "pmid": "" }, { "name": "feeding behavior", "id": "GO:0007631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007631", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P467", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P467" } ], "pmid": "" }, { "name": "adult feeding behavior", "id": "GO:0008343", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008343", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P467", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P467" } ], "pmid": "" }, { "name": "hormone-mediated signaling pathway", "id": "GO:0009755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009755", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P467", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P467" } ], "pmid": "" }, { "name": "positive regulation of feeding behavior", "id": "GO:2000253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000253", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P467", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P467" } ], "pmid": "" }, { "name": "developmental growth", "id": "GO:0048589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048589", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P467", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P467" } ], "pmid": "" } ], "molecular_function": [ { "name": "neuropeptide hormone activity", "id": "GO:0005184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005184", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P467", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P467" } ], "pmid": "" }, { "name": "type 3 melanocortin receptor binding", "id": "GO:0031781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031781", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P467", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P467" } ], "pmid": "" }, { "name": "type 4 melanocortin receptor binding", "id": "GO:0031782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031782", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P467", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P467" } ], "pmid": "" }, { "name": "type 1 melanocortin receptor binding", "id": "GO:0070996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070996", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P467", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P467" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M1P5N0-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P5N0", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P5N0" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 321, "chemical_mass": 36056.0, "gene_names": "epyc;dspg3;epyc;im:6901189;si:dkeyp-38g8.4;wu:fb48c08;zgc:110596", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P5N0", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P5N0" } ], "pmid": "" } ], "biological_process": [ { "name": "bone development", "id": "GO:0060348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060348", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P5N0", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P5N0" } ], "pmid": "" }, { "name": "articular cartilage development", "id": "GO:0061975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061975", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P5N0", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P5N0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M1P6J4-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P6J4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P6J4" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 476, "chemical_mass": 54091.0, "gene_names": "mmp13a;cb1034;mmp13", "protein_name": "interstitial collagenase", "disease": [], "molecular_function": [ { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P6J4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P6J4" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P6J4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P6J4" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P6J4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P6J4" } ], "pmid": "" }, { "name": "collagen catabolic process", "id": "GO:0030574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030574", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P6J4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P6J4" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P6J4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P6J4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A0A8M1P6J4-1", "start_pos": "371", "end_pos": "371", "site_lbl": "Tyr371", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P6J4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P6J4" } ] } ] } ], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M1P7F8-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P7F8", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P7F8" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 408, "chemical_mass": 45897.0, "gene_names": "ednrab;ednrab;zgc:85942", "protein_name": "Endothelin-1 receptor", "disease": [ { "disease_id": "DOID:0050848", "name": "obstructive sleep apnea", "description": "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.", "url": "https://disease-ontology.org/term/DOID:0050848", "evidence": [ { "id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ], "weight": 0.0 }, { "disease_id": "DOID:0050855", "name": "renal fibrosis", "description": "A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function.", "url": "https://disease-ontology.org/term/DOID:0050855", "evidence": [ { "id": "0050855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050855" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0060365", "name": "mandibulofacial dysostosis with alopecia", "description": "A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia.", "url": "https://disease-ontology.org/term/DOID:0060365", "evidence": [ { "id": "0060365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060365" } ], "weight": 0.0 }, { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:1184", "name": "nephrotic syndrome", "description": "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability.", "url": "https://disease-ontology.org/term/DOID:1184", "evidence": [ { "id": "1184", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1184" } ], "weight": 0.0 }, { "disease_id": "DOID:12583", "name": "velocardiofacial syndrome", "description": "A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. 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"https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6364", "name": "migraine", "description": "A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing.", "url": "https://disease-ontology.org/term/DOID:6364", "evidence": [ { "id": "6364", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6364" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:9279", "name": "hyperhomocysteinemia", "description": "An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.", "url": "https://disease-ontology.org/term/DOID:9279", "evidence": [ { "id": "9279", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9279" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "endothelin receptor activity", "id": "GO:0004962", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004962", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P7F8", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P7F8" } ], "pmid": "" } ], "biological_process": [ { "name": "enteric nervous system development", "id": "GO:0048484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048484", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P7F8", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P7F8" } ], "pmid": "" }, { "name": "endothelin receptor signaling pathway", "id": "GO:0086100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086100", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P7F8", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P7F8" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P7F8", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P7F8" } ], "pmid": "" }, { "name": "vasoconstriction", "id": "GO:0042310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042310", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P7F8", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P7F8" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P7F8", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P7F8" } ], "pmid": "" }, { "name": "developmental pigmentation", "id": "GO:0048066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048066", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P7F8", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P7F8" } ], "pmid": "" }, { "name": "embryonic viscerocranium morphogenesis", "id": "GO:0048703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048703", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P7F8", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P7F8" } ], "pmid": "" }, { "name": "cardioblast migration to the midline involved in heart rudiment formation", "id": "GO:0003319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003319", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P7F8", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P7F8" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P7F8", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P7F8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M1P874-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P874", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P874" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 372, "chemical_mass": 41203.0, "gene_names": "ppm1kb;im:6912645;ppm1kb;ppm1k;zgc:113207", "protein_name": "protein-serine/threonine phosphatase", "disease": [ { "disease_id": "DOID:0061205", "name": "mild variant of maple syrup urine disease", "description": "A maple syrup urine disease characterized by increased plasma levels of branched-chain amino acids (BCAA) apparent at birth that has_material_basis_in homozygous mutation in the PPM1K gene on chromosome 4q22.", "url": "https://disease-ontology.org/term/DOID:0061205", "evidence": [ { "id": "0061205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061205" } ], "weight": 0.0 }, { "disease_id": "DOID:9269", "name": "maple syrup urine disease", "description": "An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures.", "url": "https://disease-ontology.org/term/DOID:9269", "evidence": [ { "id": "9269", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9269" } ], "weight": 0.0 } ], "biological_process": [ { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P874", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P874" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P874", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P874" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P874", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P874" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P874", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P874" } ], "pmid": "" }, { "name": "pancreas development", "id": "GO:0031016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031016", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P874", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P874" } ], "pmid": "" }, { "name": "regulation of intracellular signal transduction", "id": "GO:1902531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902531", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P874", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P874" } ], "pmid": "" }, { "name": "digestive tract development", "id": "GO:0048565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048565", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P874", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P874" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P874", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P874" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P874", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P874" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P874", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P874" } ], "pmid": "" }, { "name": "protein serine/threonine phosphatase activity", "id": "GO:0004722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004722", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1P874", "url": "https://www.uniprot.org/uniprotkb/A0A8M1P874" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M1PAD4-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PAD4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1PAD4" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 535, "chemical_mass": 60732.0, "gene_names": "tyr;sandy;tyr;zgc:109705", "protein_name": "Tyrosinase", "disease": [ { "disease_id": "DOID:0050632", "name": "oculocutaneous albinism", "description": "A syndrome characterized by abnormal pigmentation of the skin, hair and eyes.", "url": "https://disease-ontology.org/term/DOID:0050632", "evidence": [ { "id": "0050632", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050632" } ], "weight": 0.0 }, { "disease_id": "DOID:0050633", "name": "ocular albinism 1", "description": "An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis_in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin.", "url": "https://disease-ontology.org/term/DOID:0050633", "evidence": [ { "id": "0050633", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050633" } ], "weight": 0.0 }, { "disease_id": "DOID:0070094", "name": "oculocutaneous albinism type IA", "description": "An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity.", "url": "https://disease-ontology.org/term/DOID:0070094", "evidence": [ { "id": "0070094", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070094" } ], "weight": 0.0 }, { "disease_id": "DOID:0070095", "name": "oculocutaneous albinism type IB", "description": "An oculocutaneous albinism that has_material_basis_in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity.", "url": "https://disease-ontology.org/term/DOID:0070095", "evidence": [ { "id": "0070095", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070095" } ], "weight": 0.0 }, { "disease_id": "DOID:10123", "name": "pigmentation disease", "description": "A skin disease that is characterized by discoloration of the skin.", "url": "https://disease-ontology.org/term/DOID:10123", "evidence": [ { "id": "10123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10123" } ], "weight": 0.0 }, { "disease_id": "DOID:11211", "name": "buphthalmos", "description": "A hydrophthalmos characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure, increased corneal diameter, and swelling of the globe and has_symptom early vision loss, photophobia, blepharospasm, tearing, increased corneal diameter, increased corneal thickness, and enlarged globe. Buphthalmos is caused by severe congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss.", "url": "https://disease-ontology.org/term/DOID:11211", "evidence": [ { "id": "11211", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11211" } ], "weight": 0.0 }, { "disease_id": "DOID:12306", "name": "vitiligo", "description": "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.", "url": "https://disease-ontology.org/term/DOID:12306", "evidence": [ { "id": "12306", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12306" } ], "weight": 0.0 }, { "disease_id": "DOID:13399", "name": "color blindness", "description": "A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions.", "url": "https://disease-ontology.org/term/DOID:13399", "evidence": [ { "id": "13399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13399" } ], "weight": 0.0 }, { "disease_id": "DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID:8465", "name": "retinoschisis", "description": "", "url": "https://disease-ontology.org/term/DOID:8465", "evidence": [ { "id": "8465", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8465" } ], "weight": 0.0 }, { "disease_id": "DOID:8923", "name": "skin melanoma", "description": "A skin cancer that has_material_basis_in melanocytes.", "url": "https://disease-ontology.org/term/DOID:8923", "evidence": [ { "id": "8923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8923" } ], "weight": 0.0 } ], "biological_process": [ { "name": "dopamine biosynthetic process from tyrosine", "id": "GO:0006585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006585", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PAD4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1PAD4" } ], "pmid": "" }, { "name": "melanosome organization", "id": "GO:0032438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032438", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PAD4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1PAD4" } ], "pmid": "" }, { "name": "pigmentation", "id": "GO:0043473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043473", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PAD4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1PAD4" } ], "pmid": "" }, { "name": "melanin biosynthetic process", "id": "GO:0042438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042438", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PAD4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1PAD4" } ], "pmid": "" }, { "name": "developmental pigmentation", "id": "GO:0048066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048066", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PAD4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1PAD4" } ], "pmid": "" }, { "name": "melanocyte differentiation", "id": "GO:0030318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030318", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PAD4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1PAD4" } ], "pmid": "" }, { "name": "eye pigmentation", "id": "GO:0048069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048069", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PAD4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1PAD4" } ], "pmid": "" }, { "name": "iridophore differentiation", "id": "GO:0050935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050935", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PAD4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1PAD4" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PAD4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1PAD4" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PAD4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1PAD4" } ], "pmid": "" }, { "name": "tyrosinase activity", "id": "GO:0004503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004503", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PAD4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1PAD4" } ], "pmid": "" }, { "name": "catechol oxidase activity", "id": "GO:0004097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004097", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PAD4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1PAD4" } ], "pmid": "" } ], "cellular_component": [ { "name": "melanosome", "id": "GO:0042470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042470", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PAD4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1PAD4" } ], "pmid": "" }, { "name": "melanosome membrane", "id": "GO:0033162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033162", "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PAD4", "url": "https://www.uniprot.org/uniprotkb/A0A8M1PAD4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M1PGA4-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M1PGA4", "url": 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A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. 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disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength.", "url": "https://disease-ontology.org/term/DOID:11476", "evidence": [ { "id": "11476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11476" } ], "weight": 0.0 }, { "disease_id": "DOID:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:1520", "name": "colon carcinoma", "description": "A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1520", "evidence": [ { "id": "1520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1520" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute 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Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:635", "name": "acquired immunodeficiency syndrome", "description": "A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.", "url": "https://disease-ontology.org/term/DOID:635", "evidence": [ { "id": "635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:635" } ], "weight": 0.0 }, { "disease_id": "DOID:6543", "name": "acne", "description": "A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring.", "url": "https://disease-ontology.org/term/DOID:6543", "evidence": [ { "id": "6543", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6543" } ], "weight": 0.0 }, { "disease_id": "DOID:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.", "url": "https://disease-ontology.org/term/DOID:7147", "evidence": [ { "id": "7147", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7147" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:841", "name": "extrinsic allergic alveolitis", "description": "An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss.", "url": "https://disease-ontology.org/term/DOID:841", "evidence": [ { "id": "841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:841" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of hematopoietic progenitor cell differentiation", "id": "GO:1901532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901532", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B2L3", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B2L3" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B2L3", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B2L3" } ], "pmid": "" }, { "name": "response to virus", "id": "GO:0009615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009615", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B2L3", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B2L3" } ], "pmid": "" }, { "name": "vasculature development", "id": "GO:0001944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001944", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B2L3", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B2L3" } ], "pmid": "" }, { "name": "positive regulation of hematopoietic progenitor cell differentiation", "id": "GO:1901534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901534", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B2L3", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B2L3" } ], "pmid": "" }, { "name": "positive regulation of hematopoietic stem cell differentiation", "id": "GO:1902038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902038", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B2L3", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B2L3" } ], "pmid": "" }, { "name": "peripheral nervous system axon ensheathment", "id": "GO:0032292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032292", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B2L3", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B2L3" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B2L3", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B2L3" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B2L3", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B2L3" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B2L3", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B2L3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M2B359-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B359", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B359" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 600, "chemical_mass": 67026.0, "gene_names": "esr2b;ER[b]1;abrrl6;esr2b;zfER-beta1;zfER[b]1", "protein_name": "", "disease": [ { "disease_id": "DOID:0050589", "name": "inflammatory bowel disease", "description": "An intestinal disease characterized by inflammation located in all parts of digestive tract.", "url": "https://disease-ontology.org/term/DOID:0050589", "evidence": [ { "id": "0050589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050589" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon.", "url": "https://disease-ontology.org/term/DOID:0060180", "evidence": [ { "id": "0060180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ], "weight": 0.0 }, { "disease_id": "DOID:0080500", "name": "ovarian dysgenesis 8", "description": "A 46 XX gonadal dysgenesis that has_material_basis_in heterozygous mutation in the ESR2 gene on chromosome 14q23.", "url": "https://disease-ontology.org/term/DOID:0080500", "evidence": [ { "id": "0080500", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080500" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.", "url": "https://disease-ontology.org/term/DOID:1070", "evidence": [ { "id": "1070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10892", "name": "hypospadias", "description": "A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.", "url": "https://disease-ontology.org/term/DOID:10892", "evidence": [ { "id": "10892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11476", "name": "osteoporosis", "description": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength.", "url": "https://disease-ontology.org/term/DOID:11476", "evidence": [ { "id": "11476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11476" } ], "weight": 0.0 }, { "disease_id": "DOID:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.", "url": "https://disease-ontology.org/term/DOID:12361", "evidence": [ { "id": "12361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1679", "name": "cystitis", "description": "A bladder disease that is characterized by inflammation of the bladder.", "url": "https://disease-ontology.org/term/DOID:1679", "evidence": [ { "id": "1679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1679" } ], "weight": 0.0 }, { "disease_id": "DOID:1712", "name": "aortic valve stenosis", "description": "An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening.", "url": "https://disease-ontology.org/term/DOID:1712", "evidence": [ { "id": "1712", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1712" } ], "weight": 0.0 }, { "disease_id": "DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID:2030", "name": "anxiety disorder", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations.", "url": "https://disease-ontology.org/term/DOID:2030", "evidence": [ { "id": "2030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:437", "name": "myasthenia gravis", "description": "An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath.", "url": "https://disease-ontology.org/term/DOID:437", "evidence": [ { "id": "437", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:437" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:657", "name": "adenoma", "description": "A cell type benign neoplasm that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures.", "url": "https://disease-ontology.org/term/DOID:657", "evidence": [ { "id": "657", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:657" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:8283", "name": "peritonitis", "description": "A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output.", "url": "https://disease-ontology.org/term/DOID:8283", "evidence": [ { "id": "8283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8283" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:8634", "name": "prostate carcinoma in situ", "description": "An in situ carcinoma that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:8634", "evidence": [ { "id": "8634", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8634" } ], "weight": 0.0 }, { "disease_id": "DOID:8719", "name": "in situ carcinoma", "description": "A carcinoma that is an early development defined by the absence of invasion of surrounding tissues.", "url": "https://disease-ontology.org/term/DOID:8719", "evidence": [ { "id": "8719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8719" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0007530", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B359", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B359" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B359", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B359" } ], "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": "A0A8M2B359", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B359" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B359", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B359" } ], "pmid": "" }, { "name": "embryonic cranial skeleton morphogenesis", "id": "GO:0048701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048701", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B359", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B359" } ], "pmid": "" }, { "name": "swimming behavior", "id": "GO:0036269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036269", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B359", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B359" } ], "pmid": "" }, { "name": "cellular response to estradiol stimulus", "id": "GO:0071392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071392", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B359", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B359" } ], "pmid": "" }, { "name": "estrogen receptor signaling pathway", "id": "GO:0030520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030520", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B359", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B359" } ], "pmid": "" } ], "molecular_function": [ { "name": "estrogen response element binding", "id": "GO:0034056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034056", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B359", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B359" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B359", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B359" } ], "pmid": "" }, { "name": "nuclear receptor activity", "id": "GO:0004879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004879", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B359", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B359" } ], "pmid": "" }, { "name": "steroid hormone binding", "id": "GO:1990239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990239", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B359", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B359" } ], "pmid": "" }, { "name": "nuclear estrogen receptor activity", "id": "GO:0030284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030284", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B359", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B359" } ], "pmid": "" }, { "name": "estradiol binding", "id": "GO:1903924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903924", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B359", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B359" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B359", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B359" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B359", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B359" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M2B3P5-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B3P5", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B3P5" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 719, "chemical_mass": 80473.0, "gene_names": "dyrk1ab;dyrk1ab;fi12h09;wu:fi12h09;wu:fi26g04", "protein_name": "dual-specificity kinase", "disease": [ { "disease_id": "DOID:0050888", "name": "syndromic intellectual disability", "description": "An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.", "url": "https://disease-ontology.org/term/DOID:0050888", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ], "weight": 0.0 }, { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0070037", "name": "autosomal dominant intellectual developmental disorder 7", "description": "An autosomal dominant intellectual developmental disorder that is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly and that has_material_basis_in an autosomal dominant mutation of the DYRK1A gene on chromosome 21q22.13.", "url": "https://disease-ontology.org/term/DOID:0070037", "evidence": [ { "id": "0070037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070037" } ], "weight": 0.0 }, { "disease_id": "DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.", "url": "https://disease-ontology.org/term/DOID:1059", "evidence": [ { "id": "1059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:14250", "name": "Down syndrome", "description": "A chromosomal duplication syndrome that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.", "url": "https://disease-ontology.org/term/DOID:14250", "evidence": [ { "id": "14250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14250" } ], "weight": 0.0 }, { "disease_id": "DOID:1591", "name": "renovascular hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1591", "evidence": [ { "id": "1591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1591" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:9279", "name": "hyperhomocysteinemia", "description": "An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.", "url": "https://disease-ontology.org/term/DOID:9279", "evidence": [ { "id": "9279", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9279" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of RNA splicing", "id": "GO:0033120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033120", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B3P5", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B3P5" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B3P5", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B3P5" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B3P5", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B3P5" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B3P5", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B3P5" } ], "pmid": "" }, { "name": "protein tyrosine kinase activity", "id": "GO:0004713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004713", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B3P5", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B3P5" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B3P5", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B3P5" } ], "pmid": "" }, { "name": "protein serine/threonine/tyrosine kinase activity", "id": "GO:0004712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004712", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B3P5", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B3P5" } ], "pmid": "" }, { "name": "kinase activity", "id": "GO:0016301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B3P5", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B3P5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B3P5", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B3P5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M2B4F9-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B4F9", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B4F9" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 630, "chemical_mass": 70493.0, "gene_names": "mcamb;cd146;gicerin;id:ibd3512;mcamb;mcam", "protein_name": "", "disease": [ { "disease_id": "DOID:1790", "name": "malignant mesothelioma", "description": "A cell type cancer that has_material_basis_in mesothelial tissue that develops from the thin layer of tissue that covers many of the internal organs. Exposure to airborne asbestos particles increases one's risk of developing malignant mesothelioma.", "url": "https://disease-ontology.org/term/DOID:1790", "evidence": [ { "id": "1790", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1790" } ], "weight": 0.0 }, { "disease_id": "DOID:1875", "name": "impotence", "description": "A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity.", "url": "https://disease-ontology.org/term/DOID:1875", "evidence": [ { "id": "1875", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1875" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:6039", "name": "uveal melanoma", "description": "A uveal cancer that has_material_basis_in uvea pigment cells.", "url": "https://disease-ontology.org/term/DOID:6039", "evidence": [ { "id": "6039", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6039" } ], "weight": 0.0 } ], "biological_process": [ { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B4F9", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B4F9" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B4F9", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B4F9" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B4F9", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B4F9" } ], "pmid": "" }, { "name": "lymphangiogenesis", "id": "GO:0001946", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001946", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B4F9", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B4F9" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2B4F9", "url": "https://www.uniprot.org/uniprotkb/A0A8M2B4F9" } ], "pmid": "" }, { "name": "vasculature development", "id": "GO:0001944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001944", "evidence": [ { "database": "UniProtKB", "id": 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"name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BBE5", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BBE5" } ], "pmid": "" } ], "molecular_function": [ { "name": "sphingosine N-acyltransferase activity", "id": "GO:0050291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050291", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BBE5", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BBE5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M2BBF6-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BBF6", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BBF6" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 1041, "chemical_mass": 114683.0, "gene_names": 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"detection of mechanical stimulus involved in sensory perception", "id": "GO:0050974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050974", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BCE3", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BCE3" } ], "pmid": "" }, { "name": "hair cell differentiation", "id": "GO:0035315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035315", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BCE3", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BCE3" } ], "pmid": "" }, { "name": "neuromast development", "id": "GO:0048884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048884", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BCE3", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BCE3" } ], "pmid": "" } ], "cellular_component": [ { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BCE3", "url": 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"taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BCU2", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BCU2" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 690, "chemical_mass": 76203.0, "gene_names": "tbx2a;tbx-a;tbx2a;tbx2l;tbxa;zgc:85705", "protein_name": "", "disease": [ { "disease_id": "DOID:0070345", "name": "vertebral anomalies and variable endocrine and T-cell dysfunction", "description": "A syndrome that has_material_basis_in heterozygous mutation in the TBX2 gene on chromosome 17q23 and is characterized by craniofacial dysmorphisms, cardiac anomalies, skeletal malformations, immune deficiency, endocrine abnormalities and developmental impairments.", "url": "https://disease-ontology.org/term/DOID:0070345", "evidence": [ { "id": "0070345", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070345" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060074" } ], "weight": 0.0 }, { "disease_id": "DOID:0060560", "name": "lethal congenital contracture syndrome 2", "description": "A lethal congenital contracture syndrome that can be that has_material_basis_in homozygous mutation in the ERBB3 gene on chromosome 12q13.", "url": "https://disease-ontology.org/term/DOID:0060560", "evidence": [ { "id": "0060560", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060560" } ], "weight": 0.0 }, { "disease_id": "DOID:0080679", "name": "neuronal intestinal dysplasia type A", "description": "An intestinal pseudo-obstruction that is characterized by congenital hypoplasia or aplasia of the sympathetic innervation of the intestine.", "url": "https://disease-ontology.org/term/DOID:0080679", "evidence": [ { "id": "0080679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080679" } ], "weight": 0.0 }, { "disease_id": "DOID:10155", "name": "intestinal cancer", "description": "A gastrointestinal system cancer that is located_in the intestine.", "url": "https://disease-ontology.org/term/DOID:10155", "evidence": [ { "id": "10155", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10155" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10376", "name": "amblyopia", "description": "An eye disease that is characterized by poor vision in one eye resulting from the brain failing to process inputs from one eye and over time favors the other eye. The weaker or lazy eye often wanders inward or outward.", "url": "https://disease-ontology.org/term/DOID:10376", "evidence": [ { "id": "10376", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10376" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2671", "evidence": [ { "id": "2671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ], "weight": 0.0 }, { "disease_id": "DOID:2876", "name": "laryngeal squamous cell carcinoma", "description": "A laryngeal carcinoma that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:2876", "evidence": [ { "id": "2876", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2876" } ], "weight": 0.0 }, { "disease_id": "DOID:305", "name": "carcinoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:305", "evidence": [ { "id": "305", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:305" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, 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cilium assembly", "id": "GO:1902017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902017", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BEP6", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BEP6" } ], "pmid": "" }, { "name": "determination of pancreatic left/right asymmetry", "id": "GO:0035469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035469", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BEP6", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BEP6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M2BFK1-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BFK1", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BFK1" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 405, "chemical_mass": 47556.0, "gene_names": "ft2;ft2;zFT2;zgc:194457", 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7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BG42", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BG42" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 1356, "chemical_mass": 148628.0, "gene_names": "kdm6al;kdm6al;utxl1;uty;zgc:158313", "protein_name": "[histone H3]-trimethyl-L-lysine(27) demethylase", "disease": [ { "disease_id": "DOID:0060081", "name": "triple-receptor negative breast cancer", "description": "A breast cancer that is characterized by the absence of estrogen, progresterone and Her2 receptors.", "url": "https://disease-ontology.org/term/DOID:0060081", "evidence": [ { "id": "0060081", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060081" } ], "weight": 0.0 }, { "disease_id": "DOID:0060473", "name": "Kabuki syndrome", "description": "A syndrome characterized by multiple congenital anomalies and mental retardation. 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"https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7474", "name": "malignant pleural mesothelioma", "description": "A pleural cancer that has_material_basis_in mesothelium cells.", "url": "https://disease-ontology.org/term/DOID:7474", "evidence": [ { "id": "7474", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7474" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon 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"url": "https://www.uniprot.org/uniprotkb/A0A8M2BG42" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BG42", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BG42" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BG42", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BG42" } ], "pmid": "" }, { "name": "germ cell migration", "id": "GO:0008354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008354", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BG42", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BG42" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BG42", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BG42" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BG42", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BG42" } ], "pmid": "" }, { "name": "chromatin DNA binding", "id": "GO:0031490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BG42", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BG42" } ], "pmid": "" }, { "name": "histone H3K27me2/H3K27me3 demethylase activity", "id": "GO:0071558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071558", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BG42", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BG42" } ], "pmid": "" } ], "cellular_component": [ { "name": "MLL3/4 complex", "id": "GO:0044666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044666", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BG42", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BG42" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A0A8M2BG42-1", "start_pos": "895", "end_pos": "895", "site_lbl": "Thr895", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 895, "start_aa": "Thr", "end_pos": 895, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr895", "evidence": [ { "id": "", "database": "GlyGen", "url": "https://data.glygen.org/" } ] } ] } ], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M2BGN5-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BGN5", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BGN5" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 807, "chemical_mass": 93336.0, "gene_names": "ace2;ace2;zgc:92514", "protein_name": "Angiotensin-converting enzyme", "disease": [ { "disease_id": "DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.", "url": "https://disease-ontology.org/term/DOID:0080600", "evidence": [ { "id": "0080600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:1273", "name": "respiratory syncytial virus infectious disease", "description": "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.", "url": "https://disease-ontology.org/term/DOID:1273", "evidence": [ { "id": "1273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ], "weight": 0.0 }, { "disease_id": "DOID:14069", "name": "cerebral malaria", "description": "A malaria that involves neurologic damage resulting from blockage of the blood vessels, caused due to the infection of the red blood cells by Plasmodium species.", "url": "https://disease-ontology.org/term/DOID:14069", "evidence": [ { "id": "14069", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14069" } ], "weight": 0.0 }, { "disease_id": "DOID:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:4492", "name": "avian influenza", "description": "An influenza that results in infection located in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus (Alphainfluenzavirus influenzae), which is transmitted by contact with infected poultry. At least five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress.", "url": "https://disease-ontology.org/term/DOID:4492", "evidence": [ { "id": "4492", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4492" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BGN5", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BGN5" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BGN5", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BGN5" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BGN5", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BGN5" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BGN5", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BGN5" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BGN5", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BGN5" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BGN5", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BGN5" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BGN5", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BGN5" } ], "pmid": "" }, { "name": "angiotensin maturation", "id": "GO:0002003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002003", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BGN5", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BGN5" } ], "pmid": "" } ], "molecular_function": [ { "name": "metallopeptidase activity", "id": "GO:0008237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008237", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BGN5", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BGN5" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BGN5", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BGN5" } ], "pmid": "" }, { "name": "carboxypeptidase activity", "id": "GO:0004180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004180", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BGN5", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BGN5" } ], "pmid": "" }, { "name": "peptidyl-dipeptidase activity", "id": "GO:0008241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008241", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BGN5", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BGN5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A0A8M2BGN5-1", "start_pos": "328", "end_pos": "328", "site_lbl": "Asn328", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": 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"site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 413, "start_aa": "Thr", "end_pos": 413, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr413", "evidence": [ { "id": "", "database": "GlyGen", "url": "https://data.glygen.org/" } ] } ] } ], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M2BI19-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BI19", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BI19" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 588, "chemical_mass": 65321.0, "gene_names": "rela;nfkb3;p65", "protein_name": "", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0050848", "name": "obstructive sleep apnea", "description": "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.", "url": "https://disease-ontology.org/term/DOID:0050848", "evidence": [ { "id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0060058", "name": "lymphoma", "description": "A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.", "url": "https://disease-ontology.org/term/DOID:0060058", "evidence": [ { "id": "0060058", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060058" } ], "weight": 0.0 }, { "disease_id": "DOID:0060074", "name": "ductal carcinoma in situ", "description": "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:0060074", "evidence": [ { "id": "0060074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060074" } ], "weight": 0.0 }, { "disease_id": "DOID:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon.", "url": "https://disease-ontology.org/term/DOID:0060180", "evidence": [ { "id": "0060180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ], "weight": 0.0 }, { "disease_id": "DOID:0060322", "name": "mastoiditis", "description": "A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process.", "url": "https://disease-ontology.org/term/DOID:0060322", "evidence": [ { "id": "0060322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060322" } ], "weight": 0.0 }, { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture.", "url": "https://disease-ontology.org/term/DOID:0080855", "evidence": [ { "id": "0080855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080855" } ], "weight": 0.0 }, { "disease_id": "DOID:0080998", "name": "acute necrotizing pancreatitis", "description": "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.", "url": "https://disease-ontology.org/term/DOID:0080998", "evidence": [ { "id": "0080998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080998" } ], "weight": 0.0 }, { "disease_id": "DOID:104", "name": "bacterial infectious disease", "description": "A disease by infectious agent that results_in infection, has_material_basis_in Bacteria.", "url": "https://disease-ontology.org/term/DOID:104", "evidence": [ { "id": "104", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:104" } ], "weight": 0.0 }, { "disease_id": "DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear.", "url": "https://disease-ontology.org/term/DOID:10754", "evidence": [ { "id": "10754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10964", "name": "cholesteatoma of middle ear", "description": "", "url": "https://disease-ontology.org/term/DOID:10964", "evidence": [ { "id": "10964", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10964" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11132", "name": "prostatic hypertrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:11132", "evidence": [ { "id": "11132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11132" } ], "weight": 0.0 }, { "disease_id": "DOID:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "weight": 0.0 }, { "disease_id": "DOID:1591", "name": "renovascular hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1591", "evidence": [ { "id": "1591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1591" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:2526", "name": "prostate adenocarcinoma", "description": "A prostate carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:2526", "evidence": [ { "id": "2526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2526" } ], "weight": 0.0 }, { "disease_id": "DOID:2876", "name": "laryngeal squamous cell carcinoma", "description": "A laryngeal carcinoma that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:2876", "evidence": [ { "id": "2876", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2876" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:8634", "name": "prostate carcinoma in situ", "description": "An in situ carcinoma that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:8634", "evidence": [ { "id": "8634", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8634" } ], "weight": 0.0 }, { "disease_id": "DOID:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in situ that is located_in the uterine cervix.", "url": "https://disease-ontology.org/term/DOID:8991", "evidence": [ { "id": "8991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8991" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9588", "name": "encephalitis", "description": "A brain disease that is characterized as an acute inflammation of the brain with flu-like symptoms.", "url": "https://disease-ontology.org/term/DOID:9588", "evidence": [ { "id": "9588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9588" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally 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"https://www.uniprot.org/uniprotkb/A0A8M2BI19" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BI19", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BI19" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BI19", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BI19" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BI19", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BI19" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BI19", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BI19" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BI19", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BI19" } ], "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": "A0A8M2BI19", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BI19" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BI19", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BI19" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BI19", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BI19" } ], "pmid": "" }, { "name": "response to cytokine", "id": "GO:0034097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034097", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BI19", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BI19" } ], "pmid": "" }, { "name": "canonical NF-kappaB signal transduction", "id": "GO:0007249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007249", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BI19", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BI19" } ], "pmid": "" }, { "name": "non-canonical NF-kappaB signal transduction", "id": "GO:0038061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038061", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BI19", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BI19" } ], "pmid": "" }, { "name": "anterior/posterior axis 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"cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BI19", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BI19" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BI19", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BI19" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "A0A8M2BI19", "url": "https://www.uniprot.org/uniprotkb/A0A8M2BI19" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M3AJY3-1", "species": [ { "name": "Danio 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"attachment of spindle microtubules to kinetochore", "id": "GO:0008608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008608", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AJY3", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AJY3" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AJY3", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AJY3" } ], "pmid": "" }, { "name": "mitotic spindle assembly", "id": "GO:0090307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090307", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AJY3", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AJY3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A0A8M3AJY3-1", "start_pos": "294", "end_pos": "294", "site_lbl": "Thr294", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 294, "start_aa": "Thr", "end_pos": 294, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr294", "evidence": [ { "id": "", "database": "GlyGen", "url": "https://data.glygen.org/" } ] } ] }, { "uniprot_canonical_ac": "A0A8M3AJY3-1", "start_pos": "377", "end_pos": "377", "site_lbl": "Ser377", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AJY3", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AJY3" } ] } ] } ], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M3ALU6-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ALU6", "url": 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pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ARK0", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ARK0" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ARK0", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ARK0" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ARK0", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ARK0" } ], "pmid": "" }, { "name": "tissue homeostasis", "id": "GO:0001894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001894", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ARK0", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ARK0" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ARK0", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ARK0" } ], "pmid": "" }, { "name": "neural tube development", "id": "GO:0021915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021915", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ARK0", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ARK0" } ], "pmid": "" }, { "name": "stem cell population maintenance", "id": "GO:0019827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019827", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ARK0", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ARK0" } ], "pmid": "" }, { "name": "homophilic cell adhesion via plasma membrane adhesion molecules", "id": "GO:0007156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007156", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ARK0", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ARK0" } ], "pmid": "" }, { "name": "cell migration involved in gastrulation", "id": "GO:0042074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042074", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ARK0", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ARK0" } ], "pmid": "" }, { "name": "cell-cell adhesion mediated by cadherin", "id": "GO:0044331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044331", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ARK0", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ARK0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A0A8M3ARK0-1", "start_pos": "2934", "end_pos": "2934", "site_lbl": "Thr2934", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2934, "start_aa": "Thr", "end_pos": 2934, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2934", "evidence": [ { "id": "", "database": "GlyGen", "url": "https://data.glygen.org/" } ] } ] } ], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M3ASR9-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ASR9", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ASR9" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 827, "chemical_mass": 95610.0, "gene_names": "fer;fer", "protein_name": "Tyrosine-protein kinase", "disease": [], "molecular_function": [ { "name": "protein tyrosine kinase activity", "id": "GO:0004713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004713", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ASR9", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ASR9" } ], "pmid": "" }, { "name": "non-membrane spanning protein tyrosine kinase activity", "id": "GO:0004715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004715", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ASR9", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ASR9" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ASR9", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ASR9" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ASR9", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ASR9" } ], "pmid": "" }, { "name": "kinase activity", "id": "GO:0016301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ASR9", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ASR9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ASR9", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ASR9" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ASR9", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ASR9" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ASR9", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ASR9" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ASR9", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ASR9" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ASR9", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ASR9" } ], "pmid": "" }, { "name": "anchoring junction", "id": "GO:0070161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070161", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ASR9", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ASR9" } ], "pmid": "" } ], "biological_process": [ { "name": "chemotaxis", "id": "GO:0006935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006935", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ASR9", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ASR9" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ASR9", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ASR9" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ASR9", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ASR9" } ], "pmid": "" }, { "name": "Fc-epsilon receptor signaling pathway", "id": "GO:0038095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038095", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ASR9", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ASR9" } ], "pmid": "" }, { "name": "convergent extension involved in gastrulation", "id": "GO:0060027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060027", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ASR9", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ASR9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M3AT57-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AT57", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AT57" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 578, "chemical_mass": 64882.0, "gene_names": "map3k7;TAK1b;map3k7;si:ch211-225h9.1;zgc:110612", "protein_name": "Mitogen-activated protein kinase kinase kinase 7", "disease": [ { "disease_id": "DOID:0111785", "name": "frontometaphyseal dysplasia", "description": "An otopalatodigital syndrome spectrum disorder characterized by abnormal ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism, urogenital anomalies, and hearing loss.", "url": "https://disease-ontology.org/term/DOID:0111785", "evidence": [ { "id": "0111785", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111785" } ], "weight": 0.0 }, { "disease_id": "DOID:0111787", "name": "frontometaphyseal dysplasia 2", "description": "A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, urogenital defects and an increased tendency to form keloid scars that has_material_basis_in heterozygous mutation in MAP3K7 on chromosome 6q15.", "url": "https://disease-ontology.org/term/DOID:0111787", "evidence": [ { "id": "0111787", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111787" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:11520", "name": "benign hypertensive renal disease", "description": "", "url": "https://disease-ontology.org/term/DOID:11520", "evidence": [ { "id": "11520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11520" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": 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coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:784", "name": "chronic kidney disease", "description": "A kidney failure that is characterized by the gradual loss of kidney function, present for a minimum of 3 months. 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"A0A8M3AT57", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AT57" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AT57", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AT57" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AT57", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AT57" } ], "pmid": "" }, { "name": "JNK cascade", "id": "GO:0007254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007254", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AT57", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AT57" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AT57", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AT57" } ], "pmid": "" }, { "name": "blood vessel morphogenesis", "id": "GO:0048514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048514", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AT57", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AT57" } ], "pmid": "" }, { "name": "cellular response to transforming growth factor beta stimulus", "id": "GO:0071560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071560", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AT57", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AT57" } ], "pmid": "" } ], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AT57", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AT57" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": 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"common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 460, "chemical_mass": 49978.0, "gene_names": "gata2a;gata2a;gata2;zg2", "protein_name": "", "disease": [ { "disease_id": "DOID:0050908", "name": "myelodysplastic syndrome", "description": "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.", "url": "https://disease-ontology.org/term/DOID:0050908", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ], "weight": 0.0 }, { "disease_id": "DOID:0111947", "name": "immunodeficiency 21", "description": "A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in the GATA2 gene on chromosome 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"batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M9PJN6-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PJN6", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PJN6" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 530, "chemical_mass": 60190.0, "gene_names": "bmpr1ba;BMPR-IB;BR1b;alk6tr;bmpr1ba;bmpr1b;zALK-6;zgc:92220", "protein_name": "Serine/threonine-protein kinase receptor", "disease": [ { "disease_id": "DOID:0050787", "name": "juvenile polyposis syndrome", "description": "A gastrointestinal system disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum.", "url": "https://disease-ontology.org/term/DOID:0050787", "evidence": [ { "id": "0050787", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050787" } ], "weight": 0.0 }, { "disease_id": "DOID:0081237", "name": "acromesomelic dysplasia 3", "description": "An acromesomelic dysplasia that is characterized by short stature and shortened limbs with severe distal limb anomalies with rudimentary fingers and toes and that has_material_basis_in homozygous mutation in the BMPR1B gene on chromosome 4q22.", "url": "https://disease-ontology.org/term/DOID:0081237", "evidence": [ { "id": "0081237", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081237" } ], "weight": 0.0 }, { "disease_id": "DOID:0110965", "name": "brachydactyly type A2", "description": "A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12.", "url": "https://disease-ontology.org/term/DOID:0110965", "evidence": [ { "id": "0110965", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110965" } ], "weight": 0.0 }, { "disease_id": "DOID:0110978", "name": "brachydactyly type A1D", "description": "A brachydactyly type A1 that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q22.", "url": "https://disease-ontology.org/term/DOID:0110978", "evidence": [ { "id": "0110978", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110978" } ], "weight": 0.0 }, { "disease_id": "DOID:2256", "name": "osteochondrodysplasia", "description": "A bone development disease that results_in defective development of cartilage or bone.", "url": "https://disease-ontology.org/term/DOID:2256", "evidence": [ { "id": "2256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2256" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PJN6", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PJN6" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PJN6", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PJN6" } ], "pmid": "" } ], "biological_process": [ { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PJN6", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PJN6" } ], "pmid": "" }, { "name": "cellular response to growth factor stimulus", "id": "GO:0071363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071363", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PJN6", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PJN6" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PJN6", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PJN6" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PJN6", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PJN6" } ], "pmid": "" }, { "name": "determination of dorsal identity", "id": "GO:0048263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048263", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PJN6", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PJN6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q7ZWK8-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q7ZWK8", "url": 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} ], "biological_process": [ { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "Q7ZWK8", "url": "https://www.uniprot.org/uniprotkb/Q7ZWK8" } ], "pmid": "" }, { "name": "inner ear morphogenesis", "id": "GO:0042472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042472", "evidence": [ { "database": "UniProtKB", "id": "Q7ZWK8", "url": "https://www.uniprot.org/uniprotkb/Q7ZWK8" } ], "pmid": "" }, { "name": "negative regulation of type II interferon-mediated signaling pathway", "id": "GO:0060336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060336", "evidence": [ { "database": "UniProtKB", "id": "Q7ZWK8", "url": "https://www.uniprot.org/uniprotkb/Q7ZWK8" } ], "pmid": "" }, { "name": "otolith formation", "id": "GO:0032475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032475", "evidence": [ { "database": "UniProtKB", "id": "Q7ZWK8", "url": 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"https://www.uniprot.org/uniprotkb/Q7ZWK8" } ], "pmid": "" }, { "name": "proton channel activity", "id": "GO:0015252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015252", "evidence": [ { "database": "UniProtKB", "id": "Q7ZWK8", "url": "https://www.uniprot.org/uniprotkb/Q7ZWK8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q7ZWK8-1", "start_pos": "267", "end_pos": "267", "site_lbl": "Glu267", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Complete loss of proton channel activity.", "evidence": [ { "database": "UniProtKB", "id": "Q7ZWK8", "url": "https://www.uniprot.org/uniprotkb/Q7ZWK8" }, { "database": "PubMed", "id": "31160780", "url": "https://glygen.org/publication/PubMed/31160780" } ] } ] }, { "uniprot_canonical_ac": "Q7ZWK8-1", "start_pos": "394", "end_pos": "394", "site_lbl": "Trp394", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Abolishes homodimerization. Impairs surface expression.", "evidence": [ { "database": "UniProtKB", "id": "Q7ZWK8", "url": "https://www.uniprot.org/uniprotkb/Q7ZWK8" }, { "database": "PubMed", "id": "31160780", "url": "https://glygen.org/publication/PubMed/31160780" } ] } ] }, { "uniprot_canonical_ac": "Q7ZWK8-1", "start_pos": "398", "end_pos": "398", "site_lbl": "Trp398", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Abolishes homodimerization. Impairs surface expression.", "evidence": [ { "database": "UniProtKB", "id": "Q7ZWK8", "url": "https://www.uniprot.org/uniprotkb/Q7ZWK8" }, { "database": "PubMed", "id": "31160780", "url": "https://glygen.org/publication/PubMed/31160780" } ] } ] }, { "uniprot_canonical_ac": "Q7ZWK8-1", "start_pos": "429", "end_pos": "429", "site_lbl": "Glu429", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "In backstroke; causes otolith agenesis.", "evidence": [ { "database": "UniProtKB", "id": "Q7ZWK8", "url": "https://www.uniprot.org/uniprotkb/Q7ZWK8" }, { "database": "PubMed", "id": "15480759", "url": "https://glygen.org/publication/PubMed/15480759" } ] } ] }, { "uniprot_canonical_ac": "Q7ZWK8-1", "start_pos": "574", "end_pos": "574", "site_lbl": "His574", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Abolishes proton channel activity.", "evidence": [ { "database": "UniProtKB", "id": "Q7ZWK8", "url": 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"url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:3762", "name": "cytochrome-c oxidase deficiency disease", "description": "A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation.", "url": "https://disease-ontology.org/term/DOID:3762", "evidence": [ { "id": "3762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3762" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q08CE7", "url": "https://www.uniprot.org/uniprotkb/Q08CE7" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q08CE7", "url": "https://www.uniprot.org/uniprotkb/Q08CE7" } ], "pmid": "" }, { "name": "respiratory chain complex IV", "id": "GO:0045277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045277", "evidence": [ { "database": "UniProtKB", "id": "Q08CE7", "url": "https://www.uniprot.org/uniprotkb/Q08CE7" } ], "pmid": "" }, { "name": "respiratory chain complex", "id": "GO:0098803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098803", "evidence": [ { "database": "UniProtKB", "id": "Q08CE7", "url": "https://www.uniprot.org/uniprotkb/Q08CE7" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q08CE7", "url": "https://www.uniprot.org/uniprotkb/Q08CE7" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "Q08CE7", "url": "https://www.uniprot.org/uniprotkb/Q08CE7" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial electron transport, cytochrome c to oxygen", "id": "GO:0006123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006123", "evidence": [ { "database": "UniProtKB", "id": "Q08CE7", "url": 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medullary cystic renal disease, and progressive eye disease.", "url": "https://disease-ontology.org/term/DOID:0050576", "evidence": [ { "id": "0050576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050576" } ], "weight": 0.0 }, { "disease_id": "DOID:12712", "name": "nephronophthisis", "description": "A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy).", "url": "https://disease-ontology.org/term/DOID:12712", "evidence": [ { "id": "12712", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12712" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q6PGZ3", "url": 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"https://www.uniprot.org/uniprotkb/Q6PGZ3" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of microtubule polymerization", "id": "GO:0031113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031113", "evidence": [ { "database": "UniProtKB", "id": "Q6PGZ3", "url": "https://www.uniprot.org/uniprotkb/Q6PGZ3" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q6PGZ3", "url": "https://www.uniprot.org/uniprotkb/Q6PGZ3" } ], "pmid": "" }, { "name": "photoreceptor cell outer segment organization", "id": "GO:0035845", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035845", "evidence": [ { "database": "UniProtKB", "id": "Q6PGZ3", "url": "https://www.uniprot.org/uniprotkb/Q6PGZ3" } ], "pmid": "" }, { "name": "intraciliary transport", "id": "GO:0042073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042073", "evidence": [ { "database": "UniProtKB", "id": "Q6PGZ3", "url": "https://www.uniprot.org/uniprotkb/Q6PGZ3" } ], "pmid": "" }, { "name": "cerebellum development", "id": "GO:0021549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021549", "evidence": [ { "database": "UniProtKB", "id": "Q6PGZ3", "url": "https://www.uniprot.org/uniprotkb/Q6PGZ3" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "Q6PGZ3", "url": "https://www.uniprot.org/uniprotkb/Q6PGZ3" } ], "pmid": "" }, { "name": "regulation of microtubule cytoskeleton organization", "id": "GO:0070507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070507", "evidence": [ { "database": "UniProtKB", "id": "Q6PGZ3", "url": "https://www.uniprot.org/uniprotkb/Q6PGZ3" } ], "pmid": "" }, { "name": "pronephros development", "id": "GO:0048793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048793", "evidence": [ { "database": "UniProtKB", "id": "Q6PGZ3", "url": "https://www.uniprot.org/uniprotkb/Q6PGZ3" } ], "pmid": "" }, { "name": "cerebrospinal fluid circulation", "id": "GO:0090660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090660", "evidence": [ { "database": "UniProtKB", "id": "Q6PGZ3", "url": "https://www.uniprot.org/uniprotkb/Q6PGZ3" } ], "pmid": "" }, { "name": "central canal development", "id": "GO:0061524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061524", "evidence": [ { "database": "UniProtKB", "id": "Q6PGZ3", "url": "https://www.uniprot.org/uniprotkb/Q6PGZ3" } ], "pmid": "" }, { "name": "system development", "id": "GO:0048731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048731", "evidence": [ { "database": "UniProtKB", "id": "Q6PGZ3", "url": "https://www.uniprot.org/uniprotkb/Q6PGZ3" } ], "pmid": "" }, { "name": "cell projection organization", "id": "GO:0030030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030030", "evidence": [ { "database": "UniProtKB", "id": "Q6PGZ3", "url": "https://www.uniprot.org/uniprotkb/Q6PGZ3" } ], "pmid": "" }, { "name": "animal organ development", "id": "GO:0048513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048513", "evidence": [ { "database": "UniProtKB", "id": "Q6PGZ3", "url": "https://www.uniprot.org/uniprotkb/Q6PGZ3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6PGZ3-1", "start_pos": "415", "end_pos": "415", "site_lbl": "Thr415", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 415, "start_aa": "Thr", "end_pos": 415, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr415", "evidence": [ { "id": "", "database": "GlyGen", "url": "https://data.glygen.org/" } ] } ] } ], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q7SXN5-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q7SXN5", "url": "https://www.uniprot.org/uniprotkb/Q7SXN5" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 691, "chemical_mass": 77263.0, "gene_names": "dnm1l;dnm1l;drp1;zgc:66163", "protein_name": "Dynamin-1-like protein", "disease": [ { "disease_id": "DOID:0070347", "name": "encephalopathy due to defective mitochondrial and peroxisomal fission 1", "description": "A syndrome that has_material_basis_in heterozygous mutation in the DNM1L gene, and is characterized by delayed psychomotor development and has_symptom hypotonia that may lead to death in childhood.", "url": "https://disease-ontology.org/term/DOID:0070347", "evidence": [ { "id": "0070347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070347" } ], "weight": 0.0 }, { "disease_id": "DOID:0111438", "name": "optic atrophy 5", "description": "An optic atrophy characterized by degeneration of retinal ganglion cells resulting in slowly progressive visual loss with variable onset from the first to third decades that has_material_basis_in heterozygous of mutation in DNM1L on chromosome 12p11.21.", "url": "https://disease-ontology.org/term/DOID:0111438", "evidence": [ { "id": "0111438", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111438" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:13711", "name": "dental fluorosis", "description": "A tooth disease characterized by enamel discoloration resulting from excess fluoride ingestion during tooth formation.", "url": "https://disease-ontology.org/term/DOID:13711", "evidence": [ { "id": "13711", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13711" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:784", "name": "chronic kidney disease", "description": "A kidney failure that is characterized by the gradual loss of kidney function, present for a minimum of 3 months. CKD is classified based on cause, glomerular filtration rate (GFR) category (G2-G5), and albuminuria category (A1-A3).", "url": "https://disease-ontology.org/term/DOID:784", "evidence": [ { "id": "784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:784" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q7SXN5", "url": "https://www.uniprot.org/uniprotkb/Q7SXN5" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q7SXN5", "url": "https://www.uniprot.org/uniprotkb/Q7SXN5" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q7SXN5", "url": "https://www.uniprot.org/uniprotkb/Q7SXN5" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q7SXN5", "url": "https://www.uniprot.org/uniprotkb/Q7SXN5" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q7SXN5", "url": "https://www.uniprot.org/uniprotkb/Q7SXN5" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q7SXN5", "url": "https://www.uniprot.org/uniprotkb/Q7SXN5" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q7SXN5", "url": "https://www.uniprot.org/uniprotkb/Q7SXN5" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q7SXN5", "url": "https://www.uniprot.org/uniprotkb/Q7SXN5" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "Q7SXN5", "url": "https://www.uniprot.org/uniprotkb/Q7SXN5" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q7SXN5", "url": "https://www.uniprot.org/uniprotkb/Q7SXN5" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q7SXN5", "url": "https://www.uniprot.org/uniprotkb/Q7SXN5" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q7SXN5", "url": "https://www.uniprot.org/uniprotkb/Q7SXN5" } ], "pmid": "" }, { "name": "clathrin-coated pit", "id": "GO:0005905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905", "evidence": [ { "database": "UniProtKB", "id": "Q7SXN5", "url": "https://www.uniprot.org/uniprotkb/Q7SXN5" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q7SXN5", "url": "https://www.uniprot.org/uniprotkb/Q7SXN5" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "Q7SXN5", "url": "https://www.uniprot.org/uniprotkb/Q7SXN5" } ], "pmid": "" } ], "biological_process": [ { "name": "peroxisome fission", "id": "GO:0016559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016559", "evidence": [ { "database": "UniProtKB", "id": "Q7SXN5", "url": "https://www.uniprot.org/uniprotkb/Q7SXN5" } ], "pmid": "" }, { "name": "protein complex oligomerization", "id": "GO:0051259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051259", "evidence": [ { "database": "UniProtKB", "id": "Q7SXN5", "url": "https://www.uniprot.org/uniprotkb/Q7SXN5" } ], "pmid": "" }, { "name": "rhythmic process", "id": "GO:0048511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048511", "evidence": [ { "database": "UniProtKB", "id": "Q7SXN5", "url": "https://www.uniprot.org/uniprotkb/Q7SXN5" } ], "pmid": "" }, { "name": "mitochondrial fragmentation involved in apoptotic process", "id": "GO:0043653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043653", "evidence": [ { "database": "UniProtKB", "id": "Q7SXN5", "url": "https://www.uniprot.org/uniprotkb/Q7SXN5" } ], "pmid": "" }, { "name": "mitochondrial fission", "id": "GO:0000266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000266", "evidence": [ { "database": "UniProtKB", "id": "Q7SXN5", "url": "https://www.uniprot.org/uniprotkb/Q7SXN5" } ], "pmid": "" }, { "name": "intracellular distribution of mitochondria", "id": "GO:0048312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048312", "evidence": [ { "database": "UniProtKB", "id": "Q7SXN5", "url": "https://www.uniprot.org/uniprotkb/Q7SXN5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q7T2E3-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q7T2E3", "url": "https://www.uniprot.org/uniprotkb/Q7T2E3" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 403, "chemical_mass": 46243.0, "gene_names": "csnk1da;Csnk1d;csnk1da;csnk1dl;si:ch211-234h8.6;wu:fb50c04;zgc:63971", "protein_name": "Casein kinase I isoform delta-A", "disease": [ { "disease_id": "DOID:0060807", "name": "syndromic X-linked intellectual disability Najm type", "description": "A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the CASK gene on chromosome Xp11.", "url": "https://disease-ontology.org/term/DOID:0060807", "evidence": [ { "id": "0060807", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060807" } ], "weight": 0.0 }, { "disease_id": "DOID:0110012", "name": "advanced sleep phase syndrome 2", "description": "An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the CSNK1D gene on chromosome 17q25.", "url": "https://disease-ontology.org/term/DOID:0110012", "evidence": [ { "id": "0110012", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110012" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:1094", "name": "attention deficit hyperactivity disorder", "description": "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.", "url": "https://disease-ontology.org/term/DOID:1094", "evidence": [ { "id": "1094", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1094" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": 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"DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4195", "name": "hyperglycemia", "description": "", "url": "https://disease-ontology.org/term/DOID:4195", "evidence": [ { "id": "4195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology 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"https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q7SY24", "url": "https://www.uniprot.org/uniprotkb/Q7SY24" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q7SY24", "url": "https://www.uniprot.org/uniprotkb/Q7SY24" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q7SY24", "url": "https://www.uniprot.org/uniprotkb/Q7SY24" } ], "pmid": "" }, { "name": "blood coagulation", "id": "GO:0007596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007596", "evidence": [ { "database": "UniProtKB", "id": "Q7SY24", "url": "https://www.uniprot.org/uniprotkb/Q7SY24" } ], "pmid": "" }, { "name": "B cell activation", "id": "GO:0042113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042113", "evidence": [ { "database": "UniProtKB", "id": "Q7SY24", "url": "https://www.uniprot.org/uniprotkb/Q7SY24" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "Q7SY24", "url": "https://www.uniprot.org/uniprotkb/Q7SY24" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "Q7SY24", "url": "https://www.uniprot.org/uniprotkb/Q7SY24" } ], "pmid": "" }, { "name": "B cell receptor signaling pathway", "id": "GO:0050853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050853", "evidence": [ { "database": "UniProtKB", "id": "Q7SY24", "url": "https://www.uniprot.org/uniprotkb/Q7SY24" } ], "pmid": "" }, { "name": "protein kinase C signaling", "id": "GO:0070528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070528", "evidence": [ { "database": "UniProtKB", "id": "Q7SY24", "url": "https://www.uniprot.org/uniprotkb/Q7SY24" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q7SY24", "url": "https://www.uniprot.org/uniprotkb/Q7SY24" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q7SY24", "url": "https://www.uniprot.org/uniprotkb/Q7SY24" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q7SY24", "url": "https://www.uniprot.org/uniprotkb/Q7SY24" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q7SY24", "url": "https://www.uniprot.org/uniprotkb/Q7SY24" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q7SY24", "url": "https://www.uniprot.org/uniprotkb/Q7SY24" } ], "pmid": "" }, { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "Q7SY24", "url": "https://www.uniprot.org/uniprotkb/Q7SY24" } ], "pmid": "" }, { "name": "nuclear androgen receptor binding", "id": "GO:0050681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050681", "evidence": [ { "database": "UniProtKB", "id": "Q7SY24", "url": "https://www.uniprot.org/uniprotkb/Q7SY24" } ], "pmid": "" }, { "name": "calcium,diacylglycerol-dependent serine/threonine kinase activity", "id": "GO:0004698", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004698", "evidence": [ { "database": "UniProtKB", "id": "Q7SY24", "url": "https://www.uniprot.org/uniprotkb/Q7SY24" } ], "pmid": "" }, { "name": "histone H3T6 kinase activity", "id": "GO:0035403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035403", "evidence": [ { "database": "UniProtKB", "id": "Q7SY24", "url": "https://www.uniprot.org/uniprotkb/Q7SY24" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q7SY24", "url": "https://www.uniprot.org/uniprotkb/Q7SY24" } ], "pmid": "" }, { "name": "diacylglycerol-dependent serine/threonine kinase activity", "id": "GO:0004697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004697", "evidence": [ { "database": "UniProtKB", "id": "Q7SY24", "url": "https://www.uniprot.org/uniprotkb/Q7SY24" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q7SY24", "url": "https://www.uniprot.org/uniprotkb/Q7SY24" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q7SY24", "url": "https://www.uniprot.org/uniprotkb/Q7SY24" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q7SY24", "url": "https://www.uniprot.org/uniprotkb/Q7SY24" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q7SY24-1", "start_pos": "497", "end_pos": "497", "site_lbl": "Thr497", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7SY24", "url": "https://www.uniprot.org/uniprotkb/Q7SY24" } ] } ] }, { "uniprot_canonical_ac": "Q7SY24-1", "start_pos": "501", "end_pos": "501", "site_lbl": "Thr501", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7SY24", "url": "https://www.uniprot.org/uniprotkb/Q7SY24" } ] } ] }, { "uniprot_canonical_ac": "Q7SY24-1", "start_pos": "631", "end_pos": "631", "site_lbl": "Thr631", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7SY24", "url": "https://www.uniprot.org/uniprotkb/Q7SY24" } ] } ] }, { "uniprot_canonical_ac": "Q7SY24-1", "start_pos": "638", "end_pos": "638", "site_lbl": "Thr638", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7SY24", "url": "https://www.uniprot.org/uniprotkb/Q7SY24" } ] } ] }, { "uniprot_canonical_ac": "Q7SY24-1", "start_pos": "657", "end_pos": "657", "site_lbl": "Ser657", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7SY24", "url": "https://www.uniprot.org/uniprotkb/Q7SY24" } ] } ] } ], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q98UK5-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q98UK5", "url": "https://www.uniprot.org/uniprotkb/Q98UK5" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 356, "chemical_mass": 40233.0, "gene_names": "mafba;mafb;kreisler;krml;kr;mafba;mafb;val;wu:fc22d11;wu:fj82a09", "protein_name": "Transcription factor MafB", "disease": [ { "disease_id": "DOID:0061029", "name": "Duane retraction syndrome 3", "description": "A Duane retraction syndrome that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12.", "url": "https://disease-ontology.org/term/DOID:0061029", "evidence": [ { "id": "0061029", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061029" } ], "weight": 0.0 }, { "disease_id": "DOID:0111534", "name": "multicentric carpotarsal osteolysis syndrome", "description": "A syndrome characterized by progressive loss of bone, typically involving the carpal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12.", "url": "https://disease-ontology.org/term/DOID:0111534", "evidence": [ { "id": "0111534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111534" } ], "weight": 0.0 }, { "disease_id": "DOID:12557", "name": "Duane retraction syndrome", "description": "A strabismus characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction, or both, and narrowing of the palpebral 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"https://www.uniprot.org/uniprotkb/Q98UK5" } ], "pmid": "" }, { "name": "ionocyte differentiation", "id": "GO:0062236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062236", "evidence": [ { "database": "UniProtKB", "id": "Q98UK5", "url": "https://www.uniprot.org/uniprotkb/Q98UK5" } ], "pmid": "" }, { "name": "rhombomere boundary formation", "id": "GO:0021654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021654", "evidence": [ { "database": "UniProtKB", "id": "Q98UK5", "url": "https://www.uniprot.org/uniprotkb/Q98UK5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q98UK5", "url": "https://www.uniprot.org/uniprotkb/Q98UK5" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q98UK5", "url": "https://www.uniprot.org/uniprotkb/Q98UK5" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q98UK5", "url": "https://www.uniprot.org/uniprotkb/Q98UK5" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q98UK5", "url": "https://www.uniprot.org/uniprotkb/Q98UK5" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q98UK5", "url": "https://www.uniprot.org/uniprotkb/Q98UK5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q7SZK7-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q7SZK7", "url": "https://www.uniprot.org/uniprotkb/Q7SZK7" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 901, "chemical_mass": 103862.0, "gene_names": "ofd1;wu:fa07a10;wu:fd17e11;zgc:92562", "protein_name": "Centriole and centriolar satellite protein ofd1", "disease": [ { "disease_id": "DOID:0060316", "name": "orofaciodigital syndrome I", "description": "An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease.", "url": "https://disease-ontology.org/term/DOID:0060316", "evidence": [ { "id": "0060316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060316" } ], "weight": 0.0 }, { "disease_id": "DOID:0080342", "name": "Simpson-Golabi-Behmel syndrome type 2", "description": "A syndrome that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems.", "url": "https://disease-ontology.org/term/DOID:0080342", "evidence": [ { "id": "0080342", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080342" } ], "weight": 0.0 }, { "disease_id": "DOID:0110412", "name": "retinitis pigmentosa 23", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22.", "url": "https://disease-ontology.org/term/DOID:0110412", "evidence": [ { "id": "0110412", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110412" } ], "weight": 0.0 }, { "disease_id": "DOID:0110981", "name": "Joubert syndrome 10", "description": "A Joubert syndrome that has_material_basis_in X-linked recessive inheritance of mutation in the OFD1 gene 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"https://www.alliancegenome.org/disease/DOID:8466" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q7SZK7", "url": "https://www.uniprot.org/uniprotkb/Q7SZK7" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q7SZK7", "url": "https://www.uniprot.org/uniprotkb/Q7SZK7" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q7SZK7", "url": "https://www.uniprot.org/uniprotkb/Q7SZK7" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "Q7SZK7", "url": "https://www.uniprot.org/uniprotkb/Q7SZK7" } ], "pmid": "" }, { "name": "centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "Q7SZK7", "url": "https://www.uniprot.org/uniprotkb/Q7SZK7" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q7SZK7", "url": "https://www.uniprot.org/uniprotkb/Q7SZK7" } ], "pmid": "" } ], "biological_process": [ { "name": "cell projection organization", "id": "GO:0030030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030030", "evidence": [ { "database": "UniProtKB", "id": "Q7SZK7", "url": "https://www.uniprot.org/uniprotkb/Q7SZK7" } ], "pmid": "" }, { "name": "epithelial cilium movement involved in determination of left/right asymmetry", "id": "GO:0060287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060287", "evidence": [ { "database": "UniProtKB", "id": "Q7SZK7", "url": "https://www.uniprot.org/uniprotkb/Q7SZK7" } ], "pmid": "" }, { "name": "determination of heart left/right asymmetry", "id": "GO:0061371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061371", "evidence": [ { "database": "UniProtKB", "id": "Q7SZK7", "url": "https://www.uniprot.org/uniprotkb/Q7SZK7" } ], "pmid": "" }, { "name": "convergent extension", "id": "GO:0060026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060026", "evidence": [ { "database": "UniProtKB", "id": "Q7SZK7", "url": "https://www.uniprot.org/uniprotkb/Q7SZK7" } ], "pmid": "" }, { "name": "convergent extension involved in gastrulation", "id": "GO:0060027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060027", "evidence": [ { "database": "UniProtKB", "id": "Q7SZK7", "url": "https://www.uniprot.org/uniprotkb/Q7SZK7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q7SZK7-1", "start_pos": "659", "end_pos": "659", "site_lbl": "Ser659", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7SZK7", "url": "https://www.uniprot.org/uniprotkb/Q7SZK7" } ] } ] } ], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q8JG38-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q8JG38", "url": "https://www.uniprot.org/uniprotkb/Q8JG38" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 817, "chemical_mass": 91388.0, "gene_names": "fgfr2;fc56c05;fgfr-2;fgfr2b;fgfr2c;wu:fc56c05", "protein_name": "Fibroblast growth factor receptor 2", "disease": [ { "disease_id": "DOID:0050156", "name": "idiopathic pulmonary fibrosis", "description": "A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.", "url": "https://disease-ontology.org/term/DOID:0050156", "evidence": [ { "id": "0050156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050156" } ], "weight": 0.0 }, { "disease_id": "DOID:0050331", "name": "lacrimoauriculodentodigital syndrome 1", "description": "A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes.", "url": "https://disease-ontology.org/term/DOID:0050331", "evidence": [ { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" } ], "weight": 0.0 }, { "disease_id": "DOID:0050660", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.", "url": "https://disease-ontology.org/term/DOID:0050660", "evidence": [ { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" } ], "weight": 0.0 }, { "disease_id": "DOID:0050861", "name": "colorectal adenocarcinoma", "description": "A colorectal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:0050861", "evidence": [ { "id": "0050861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050861" } ], "weight": 0.0 }, { "disease_id": "DOID:0060992", "name": "bent bone dysplasia syndrome 1", "description": "A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.", "url": "https://disease-ontology.org/term/DOID:0060992", "evidence": [ { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" } ], "weight": 0.0 }, { "disease_id": "DOID:0080001", "name": "bone disease", "description": "A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function.", "url": "https://disease-ontology.org/term/DOID:0080001", "evidence": [ { "id": "0080001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080001" } ], "weight": 0.0 }, { "disease_id": "DOID:0081289", "name": "Antley-Bixler syndrome", "description": "A craniosynostosis that is characterized by radiohumeral synostosis present from the perinatal period.", "url": "https://disease-ontology.org/term/DOID:0081289", "evidence": [ { "id": "0081289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081289" } ], "weight": 0.0 }, { "disease_id": "DOID:0081290", "name": "Antley-Bixler syndrome without disordered steroidogenesis", "description": "An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome.", "url": "https://disease-ontology.org/term/DOID:0081290", "evidence": [ { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" } ], "weight": 0.0 }, { "disease_id": "DOID:0111337", "name": "Jackson-Weiss syndrome", "description": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13.", "url": "https://disease-ontology.org/term/DOID:0111337", "evidence": [ { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10486", "name": "intestinal atresia", "description": "", "url": "https://disease-ontology.org/term/DOID:10486", "evidence": [ { "id": "10486", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10486" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:10584", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.", "url": "https://disease-ontology.org/term/DOID:10584", "evidence": [ { "id": "10584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10584" } ], "weight": 0.0 }, { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID:10825", "name": "essential hypertension", "description": "A hypertension with no known cause. It is the most common type of hypertension.", "url": "https://disease-ontology.org/term/DOID:10825", "evidence": [ { "id": "10825", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10825" } ], "weight": 0.0 }, { "disease_id": "DOID:10892", "name": "hypospadias", "description": "A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.", "url": "https://disease-ontology.org/term/DOID:10892", "evidence": [ { "id": "10892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:12960", "name": "acrocephalosyndactylia", "description": "A synostosis that results_in craniosynostosis and syndactyly.", "url": "https://disease-ontology.org/term/DOID:12960", "evidence": [ { "id": "12960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12960" } ], "weight": 0.0 }, { "disease_id": "DOID:14557", "name": "primary pulmonary hypertension", "description": "A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling.", "url": "https://disease-ontology.org/term/DOID:14557", "evidence": [ { "id": "14557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14557" } ], "weight": 0.0 }, { "disease_id": "DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.", "url": "https://disease-ontology.org/term/DOID:14705", "evidence": [ { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" } ], "weight": 0.0 }, { "disease_id": "DOID:14768", "name": "Saethre-Chotzen syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull.", "url": "https://disease-ontology.org/term/DOID:14768", "evidence": [ { "id": "14768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14768" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1749", "name": "squamous cell carcinoma", "description": "A carcinoma that derives_from squamous epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1749", "evidence": [ { "id": "1749", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene.", "url": "https://disease-ontology.org/term/DOID:2339", "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ], "weight": 0.0 }, { "disease_id": "DOID:2340", "name": "craniosynostosis", "description": "A synostosis that results_in premature fusion located_in skull.", "url": "https://disease-ontology.org/term/DOID:2340", "evidence": [ { "id": "2340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2340" } ], "weight": 0.0 }, { "disease_id": "DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2671", "evidence": [ { "id": "2671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ], "weight": 0.0 }, { "disease_id": "DOID:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:4441", "name": "dysgerminoma", "description": "A germ cell cancer that derives_from cells that give rise to egg cells.", "url": "https://disease-ontology.org/term/DOID:4441", "evidence": [ { "id": "4441", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4441" } ], "weight": 0.0 }, { "disease_id": "DOID:5517", "name": "stomach carcinoma", "description": "A stomach cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:5517", "evidence": [ { "id": "5517", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5517" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7843", "name": "female breast carcinoma", "description": "A breast carcinoma that is manifested in the female breast.", "url": "https://disease-ontology.org/term/DOID:7843", "evidence": [ { "id": "7843", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7843" } ], "weight": 0.0 }, { "disease_id": "DOID:8445", "name": "intestinal volvulus", "description": "An intestinal obstruction characterized by abnormal rotation of the intestines.", "url": "https://disease-ontology.org/term/DOID:8445", "evidence": [ { "id": "8445", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8445" } ], "weight": 0.0 }, { "disease_id": "DOID:8632", "name": "Kaposi's sarcoma", "description": "A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (Rhadinovirus humangamma8).", "url": "https://disease-ontology.org/term/DOID:8632", "evidence": [ { "id": "8632", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8632" } ], "weight": 0.0 } ], "biological_process": [ { "name": "determination of left/right asymmetry in lateral mesoderm", "id": "GO:0003140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003140", "evidence": [ { "database": "UniProtKB", "id": "Q8JG38", "url": "https://www.uniprot.org/uniprotkb/Q8JG38" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q8JG38", "url": "https://www.uniprot.org/uniprotkb/Q8JG38" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "Q8JG38", "url": "https://www.uniprot.org/uniprotkb/Q8JG38" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q8JG38", "url": "https://www.uniprot.org/uniprotkb/Q8JG38" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": 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"https://www.uniprot.org/uniprotkb/Q6NW59" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6NW59", "url": "https://www.uniprot.org/uniprotkb/Q6NW59" } ], "pmid": "" }, { "name": "ATF1-ATF4 transcription factor complex", "id": "GO:1990590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990590", "evidence": [ { "database": "UniProtKB", "id": "Q6NW59", "url": "https://www.uniprot.org/uniprotkb/Q6NW59" } ], "pmid": "" }, { "name": "ATF4-CREB1 transcription factor complex", "id": "GO:1990589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990589", "evidence": [ { "database": "UniProtKB", "id": "Q6NW59", "url": "https://www.uniprot.org/uniprotkb/Q6NW59" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q6SJP8-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q6SJP8", "url": "https://www.uniprot.org/uniprotkb/Q6SJP8" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 215, "chemical_mass": 25203.0, "gene_names": "fgf17;fgf17b;fgf17;si:ch211-237h13.2;zgc:101759", "protein_name": "Fibroblast growth factor 17", "disease": [ { "disease_id": "DOID:0090082", "name": "hypogonadotropic hypogonadism 20 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGF17 gene on chromosome 8p21, sometimes in association with mutations in other genes.", "url": "https://disease-ontology.org/term/DOID:0090082", "evidence": [ { "id": "0090082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090082" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "type 1 fibroblast growth factor receptor binding", "id": "GO:0005105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005105", "evidence": [ { "database": "UniProtKB", "id": "Q6SJP8", "url": "https://www.uniprot.org/uniprotkb/Q6SJP8" } ], "pmid": "" }, { "name": "growth factor activity", "id": "GO:0008083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008083", "evidence": [ { "database": "UniProtKB", "id": "Q6SJP8", "url": "https://www.uniprot.org/uniprotkb/Q6SJP8" } ], "pmid": "" }, { "name": "type 2 fibroblast growth factor receptor binding", "id": "GO:0005111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005111", "evidence": [ { "database": "UniProtKB", "id": "Q6SJP8", "url": "https://www.uniprot.org/uniprotkb/Q6SJP8" } ], "pmid": "" }, { "name": "fibroblast growth factor receptor binding", "id": "GO:0005104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005104", "evidence": [ { "database": "UniProtKB", "id": "Q6SJP8", "url": "https://www.uniprot.org/uniprotkb/Q6SJP8" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q6SJP8", "url": "https://www.uniprot.org/uniprotkb/Q6SJP8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6SJP8", "url": "https://www.uniprot.org/uniprotkb/Q6SJP8" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q6SJP8", "url": "https://www.uniprot.org/uniprotkb/Q6SJP8" } ], "pmid": "" } ], "biological_process": [ { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q6SJP8", "url": "https://www.uniprot.org/uniprotkb/Q6SJP8" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "Q6SJP8", "url": "https://www.uniprot.org/uniprotkb/Q6SJP8" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q6SJP8", "url": "https://www.uniprot.org/uniprotkb/Q6SJP8" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "Q6SJP8", "url": "https://www.uniprot.org/uniprotkb/Q6SJP8" } ], "pmid": "" }, { "name": "positive regulation of cell division", "id": "GO:0051781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051781", "evidence": [ { "database": "UniProtKB", "id": "Q6SJP8", "url": "https://www.uniprot.org/uniprotkb/Q6SJP8" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "Q6SJP8", "url": "https://www.uniprot.org/uniprotkb/Q6SJP8" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "Q6SJP8", "url": "https://www.uniprot.org/uniprotkb/Q6SJP8" } ], "pmid": "" }, { "name": "mesoderm development", "id": "GO:0007498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007498", "evidence": [ { "database": "UniProtKB", "id": "Q6SJP8", "url": "https://www.uniprot.org/uniprotkb/Q6SJP8" } ], "pmid": "" }, { "name": "fibroblast growth factor receptor signaling pathway", "id": "GO:0008543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008543", "evidence": [ { "database": "UniProtKB", "id": "Q6SJP8", "url": "https://www.uniprot.org/uniprotkb/Q6SJP8" } ], "pmid": "" }, { "name": "negative regulation of endodermal cell fate specification", "id": "GO:0042664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042664", "evidence": [ { "database": "UniProtKB", "id": "Q6SJP8", "url": "https://www.uniprot.org/uniprotkb/Q6SJP8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6SJP8-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Asn137", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 137, "start_aa": "Asn", "end_pos": 137, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn137", "evidence": [ { "id": "Q6SJP8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6SJP8#ptm_processing" } ] } ] } ], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q6PBJ2-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q6PBJ2", "url": "https://www.uniprot.org/uniprotkb/Q6PBJ2" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 192, "chemical_mass": 22606.0, "gene_names": "cfap20;cfap20;zgc:73380", "protein_name": "Cilia- and flagella-associated protein 20", "disease": [], "biological_process": [ { "name": "notochord morphogenesis", "id": "GO:0048570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048570", "evidence": [ { "database": "UniProtKB", "id": "Q6PBJ2", "url": "https://www.uniprot.org/uniprotkb/Q6PBJ2" } ], "pmid": "" }, { "name": "retina homeostasis", "id": "GO:0001895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001895", "evidence": [ { "database": "UniProtKB", "id": "Q6PBJ2", "url": "https://www.uniprot.org/uniprotkb/Q6PBJ2" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q6PBJ2", "url": "https://www.uniprot.org/uniprotkb/Q6PBJ2" } ], "pmid": "" }, { "name": "positive regulation of feeding behavior", "id": "GO:2000253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000253", "evidence": [ { "database": "UniProtKB", "id": "Q6PBJ2", "url": "https://www.uniprot.org/uniprotkb/Q6PBJ2" } ], "pmid": "" }, { "name": "specification of axis polarity", "id": "GO:0065001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065001", "evidence": [ { "database": "UniProtKB", "id": "Q6PBJ2", "url": "https://www.uniprot.org/uniprotkb/Q6PBJ2" } ], "pmid": "" }, { "name": "positive regulation of cell motility", "id": "GO:2000147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000147", "evidence": [ { "database": "UniProtKB", "id": "Q6PBJ2", "url": "https://www.uniprot.org/uniprotkb/Q6PBJ2" } ], "pmid": "" }, { "name": "regulation of heart looping", "id": "GO:1901207", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901207", "evidence": [ { "database": "UniProtKB", "id": "Q6PBJ2", "url": "https://www.uniprot.org/uniprotkb/Q6PBJ2" } ], "pmid": "" }, { "name": "regulation of somitogenesis", "id": "GO:0014807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014807", "evidence": [ { "database": "UniProtKB", "id": "Q6PBJ2", "url": "https://www.uniprot.org/uniprotkb/Q6PBJ2" } ], "pmid": "" }, { "name": "protein polyglutamylation", "id": "GO:0018095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018095", "evidence": [ { "database": "UniProtKB", "id": "Q6PBJ2", "url": "https://www.uniprot.org/uniprotkb/Q6PBJ2" } ], "pmid": "" }, { "name": "regulation of cilium beat frequency involved in ciliary motility", "id": "GO:0060296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060296", "evidence": [ { "database": "UniProtKB", "id": "Q6PBJ2", "url": "https://www.uniprot.org/uniprotkb/Q6PBJ2" } ], "pmid": "" }, { "name": "determination of heart left/right asymmetry", "id": "GO:0061371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061371", "evidence": [ { "database": "UniProtKB", "id": "Q6PBJ2", "url": "https://www.uniprot.org/uniprotkb/Q6PBJ2" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6PBJ2", "url": "https://www.uniprot.org/uniprotkb/Q6PBJ2" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q6PBJ2", "url": "https://www.uniprot.org/uniprotkb/Q6PBJ2" } ], "pmid": "" }, { "name": "motile cilium", "id": "GO:0031514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031514", "evidence": [ { "database": "UniProtKB", "id": "Q6PBJ2", "url": "https://www.uniprot.org/uniprotkb/Q6PBJ2" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "Q6PBJ2", "url": "https://www.uniprot.org/uniprotkb/Q6PBJ2" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q6PBJ2", "url": "https://www.uniprot.org/uniprotkb/Q6PBJ2" } ], "pmid": "" }, { "name": "axonemal microtubule", "id": "GO:0005879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005879", "evidence": [ { "database": "UniProtKB", "id": "Q6PBJ2", "url": "https://www.uniprot.org/uniprotkb/Q6PBJ2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q8JFR5-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q8JFR5", "url": "https://www.uniprot.org/uniprotkb/Q8JFR5" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 976, "chemical_mass": 109280.0, "gene_names": "kita;c-kit;kita;kit;receptor;sparse", "protein_name": "Mast/stem cell growth factor receptor kita", "disease": [ { "disease_id": "DOID:10487", "name": "Hirschsprung's disease", "description": "A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.", "url": "https://disease-ontology.org/term/DOID:10487", "evidence": [ { "id": "10487", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10487" } ], "weight": 0.0 }, { "disease_id": "DOID:11044", "name": "gastroschisis", "description": "", "url": "https://disease-ontology.org/term/DOID:11044", "evidence": [ { "id": "11044", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11044" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": 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"https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "notochord cell development", "id": "GO:0060035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060035", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "spinal cord motor neuron cell fate specification", "id": "GO:0021520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021520", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "rhombomere development", "id": "GO:0021546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021546", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "diencephalon development", "id": "GO:0021536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021536", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "vasculogenesis", "id": "GO:0001570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001570", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "neural retina development", "id": "GO:0003407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003407", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "spinal cord development", "id": "GO:0021510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021510", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "hematopoietic stem cell differentiation", "id": "GO:0060218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060218", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "regulation of neuron differentiation", "id": "GO:0045664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045664", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "positive regulation of Notch signaling pathway", "id": "GO:0045747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045747", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "blood vessel morphogenesis", "id": "GO:0048514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048514", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "hindbrain development", "id": "GO:0030902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030902", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "embryonic camera-type eye development", "id": "GO:0031076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031076", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "digestive tract morphogenesis", "id": "GO:0048546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048546", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "hemopoiesis", "id": "GO:0030097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030097", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "positive regulation of protein ubiquitination", "id": "GO:0031398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031398", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "somitogenesis", "id": "GO:0001756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001756", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "sprouting angiogenesis", "id": "GO:0002040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002040", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "otic vesicle development", "id": "GO:0071599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071599", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "protein autoubiquitination", "id": "GO:0051865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051865", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "hematopoietic progenitor cell differentiation", "id": "GO:0002244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002244", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "neuron development", "id": "GO:0048666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048666", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "regulation of receptor internalization", "id": "GO:0002090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002090", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "regulation of receptor-mediated endocytosis", "id": "GO:0048259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048259", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "optic cup formation involved in camera-type eye development", "id": "GO:0003408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003408", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "neuron fate commitment", "id": "GO:0048663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048663", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "neuron fate specification", "id": "GO:0048665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048665", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "developmental pigmentation", "id": "GO:0048066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048066", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "definitive hemopoiesis", "id": "GO:0060216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060216", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "generation of neurons", "id": "GO:0048699", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048699", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "notochord development", "id": "GO:0030903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030903", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "ventral spinal cord interneuron differentiation", "id": "GO:0021514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021514", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "formation of anatomical boundary", "id": "GO:0048859", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048859", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "epithelial cell development", "id": "GO:0002064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002064", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "melanocyte differentiation", "id": "GO:0030318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030318", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "embryonic pattern specification", "id": "GO:0009880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009880", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "inner ear receptor cell differentiation", "id": "GO:0060113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060113", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "glial cell differentiation", "id": "GO:0010001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010001", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "trigeminal ganglion development", "id": "GO:0061551", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061551", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "endothelial cell development", "id": "GO:0001885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001885", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "hair cell differentiation", "id": "GO:0035315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035315", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "ventral spinal cord interneuron specification", "id": "GO:0021521", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021521", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "ubiquitin-dependent endocytosis", "id": "GO:0070086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070086", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "pronephros development", "id": "GO:0048793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048793", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "pigment cell differentiation", "id": "GO:0050931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050931", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "regulation of Notch signaling pathway", "id": "GO:0008593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008593", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "habenula development", "id": "GO:0021986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021986", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "regulation of glial cell differentiation", "id": "GO:0045685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045685", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "pronephric duct development", "id": "GO:0039022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0039022", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "anterior lateral line development", "id": "GO:0048899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048899", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "posterior lateral line development", "id": "GO:0048916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048916", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "posterior lateral line neuromast primordium migration", "id": "GO:0048920", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048920", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "taste bud formation", "id": "GO:0061195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061195", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "spinal cord association neuron specification", "id": "GO:0021519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021519", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "rhombomere boundary formation", "id": "GO:0021654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021654", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "lateral line nerve development", "id": "GO:0048892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048892", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q804S5", "url": "https://www.uniprot.org/uniprotkb/Q804S5" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": 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"" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q7ZVK3", "url": "https://www.uniprot.org/uniprotkb/Q7ZVK3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q7ZVK3", "url": "https://www.uniprot.org/uniprotkb/Q7ZVK3" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q7ZVK3", "url": "https://www.uniprot.org/uniprotkb/Q7ZVK3" } ], "pmid": "" }, { "name": "spindle", "id": "GO:0005819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005819", "evidence": [ { "database": "UniProtKB", "id": "Q7ZVK3", "url": "https://www.uniprot.org/uniprotkb/Q7ZVK3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q7ZVK3", "url": "https://www.uniprot.org/uniprotkb/Q7ZVK3" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q7ZVK3", "url": "https://www.uniprot.org/uniprotkb/Q7ZVK3" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "Q7ZVK3", "url": "https://www.uniprot.org/uniprotkb/Q7ZVK3" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q7ZVK3", "url": "https://www.uniprot.org/uniprotkb/Q7ZVK3" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { 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"https://www.uniprot.org/uniprotkb/Q7ZVK3" } ], "pmid": "" }, { "name": "meiotic spindle", "id": "GO:0072687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072687", "evidence": [ { "database": "UniProtKB", "id": "Q7ZVK3", "url": "https://www.uniprot.org/uniprotkb/Q7ZVK3" } ], "pmid": "" }, { "name": "heterochromatin", "id": "GO:0000792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000792", "evidence": [ { "database": "UniProtKB", "id": "Q7ZVK3", "url": "https://www.uniprot.org/uniprotkb/Q7ZVK3" } ], "pmid": "" }, { "name": "mitotic spindle", "id": "GO:0072686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072686", "evidence": [ { "database": "UniProtKB", "id": "Q7ZVK3", "url": "https://www.uniprot.org/uniprotkb/Q7ZVK3" } ], "pmid": "" }, { "name": "juxtaparanode region of axon", "id": "GO:0044224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044224", "evidence": [ { "database": "UniProtKB", "id": "Q7ZVK3", "url": "https://www.uniprot.org/uniprotkb/Q7ZVK3" } ], "pmid": "" }, { "name": "paranode region of axon", "id": "GO:0033270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033270", "evidence": [ { "database": "UniProtKB", "id": "Q7ZVK3", "url": "https://www.uniprot.org/uniprotkb/Q7ZVK3" } ], "pmid": "" }, { "name": "glial cell projection", "id": "GO:0097386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097386", "evidence": [ { "database": "UniProtKB", "id": "Q7ZVK3", "url": "https://www.uniprot.org/uniprotkb/Q7ZVK3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q90415-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q90415", "url": "https://www.uniprot.org/uniprotkb/Q90415" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 379, "chemical_mass": 42556.0, "gene_names": "rxrab;etID309731.5;nr2b1b;rxrab;rxra;rxrg;rxr", "protein_name": 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"https://www.uniprot.org/uniprotkb/Q92050" } ], "pmid": "" }, { "name": "chondrocyte differentiation", "id": "GO:0002062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002062", "evidence": [ { "database": "UniProtKB", "id": "Q92050", "url": "https://www.uniprot.org/uniprotkb/Q92050" } ], "pmid": "" }, { "name": "Wnt signaling pathway, calcium modulating pathway", "id": "GO:0007223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007223", "evidence": [ { "database": "UniProtKB", "id": "Q92050", "url": "https://www.uniprot.org/uniprotkb/Q92050" } ], "pmid": "" }, { "name": "endocrine pancreas development", "id": "GO:0031018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031018", "evidence": [ { "database": "UniProtKB", "id": "Q92050", "url": "https://www.uniprot.org/uniprotkb/Q92050" } ], "pmid": "" }, { "name": "muscle cell differentiation", "id": "GO:0042692", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042692", "evidence": [ { "database": "UniProtKB", "id": "Q92050", "url": "https://www.uniprot.org/uniprotkb/Q92050" } ], "pmid": "" }, { "name": "otolith development", "id": "GO:0048840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048840", "evidence": [ { "database": "UniProtKB", "id": "Q92050", "url": "https://www.uniprot.org/uniprotkb/Q92050" } ], "pmid": "" }, { "name": "cartilage morphogenesis", "id": "GO:0060536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060536", "evidence": [ { "database": "UniProtKB", "id": "Q92050", "url": "https://www.uniprot.org/uniprotkb/Q92050" } ], "pmid": "" }, { "name": "convergent extension involved in axis elongation", "id": "GO:0060028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060028", "evidence": [ { "database": "UniProtKB", "id": "Q92050", "url": "https://www.uniprot.org/uniprotkb/Q92050" } ], "pmid": "" }, { "name": "embryonic viscerocranium morphogenesis", "id": "GO:0048703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048703", "evidence": [ { "database": "UniProtKB", "id": "Q92050", "url": 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"https://www.uniprot.org/uniprotkb/Q92050" } ], "pmid": "" }, { "name": "somite development", "id": "GO:0061053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061053", "evidence": [ { "database": "UniProtKB", "id": "Q92050", "url": "https://www.uniprot.org/uniprotkb/Q92050" } ], "pmid": "" }, { "name": "positive regulation of serine C-palmitoyltransferase activity", "id": "GO:1904222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904222", "evidence": [ { "database": "UniProtKB", "id": "Q92050", "url": "https://www.uniprot.org/uniprotkb/Q92050" } ], "pmid": "" }, { "name": "post-anal tail morphogenesis", "id": "GO:0036342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036342", "evidence": [ { "database": "UniProtKB", "id": "Q92050", "url": "https://www.uniprot.org/uniprotkb/Q92050" } ], "pmid": "" }, { "name": "positive regulation of non-canonical Wnt signaling pathway", "id": "GO:2000052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000052", "evidence": [ { "database": "UniProtKB", "id": "Q92050", "url": "https://www.uniprot.org/uniprotkb/Q92050" } ], "pmid": "" }, { "name": "intracellular sphingolipid homeostasis", "id": "GO:0090156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090156", "evidence": [ { "database": "UniProtKB", "id": "Q92050", "url": "https://www.uniprot.org/uniprotkb/Q92050" } ], "pmid": "" }, { "name": "convergent extension", "id": "GO:0060026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060026", "evidence": [ { "database": "UniProtKB", "id": "Q92050", "url": "https://www.uniprot.org/uniprotkb/Q92050" } ], "pmid": "" }, { "name": "convergent extension involved in gastrulation", "id": "GO:0060027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060027", "evidence": [ { "database": "UniProtKB", "id": "Q92050", "url": "https://www.uniprot.org/uniprotkb/Q92050" } ], "pmid": "" }, { "name": "positive regulation of convergent extension involved in gastrulation", "id": "GO:1904105", "url": 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"midbrain-hindbrain boundary morphogenesis", "id": "GO:0021555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021555", "evidence": [ { "database": "UniProtKB", "id": "Q6DRG7", "url": "https://www.uniprot.org/uniprotkb/Q6DRG7" } ], "pmid": "" }, { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "Q6DRG7", "url": "https://www.uniprot.org/uniprotkb/Q6DRG7" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q6DRG7", "url": "https://www.uniprot.org/uniprotkb/Q6DRG7" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "Q6DRG7", "url": "https://www.uniprot.org/uniprotkb/Q6DRG7" } ], "pmid": "" }, { "name": "regulation of cell adhesion", "id": "GO:0030155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030155", "evidence": [ { "database": "UniProtKB", "id": "Q6DRG7", "url": "https://www.uniprot.org/uniprotkb/Q6DRG7" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "Q6DRG7", "url": "https://www.uniprot.org/uniprotkb/Q6DRG7" } ], "pmid": "" }, { "name": "actin filament bundle assembly", "id": "GO:0051017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051017", "evidence": [ { "database": "UniProtKB", "id": "Q6DRG7", "url": "https://www.uniprot.org/uniprotkb/Q6DRG7" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "Q6DRG7", "url": "https://www.uniprot.org/uniprotkb/Q6DRG7" } ], "pmid": "" }, { "name": "regulation of BMP signaling pathway", "id": "GO:0030510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030510", "evidence": [ { "database": "UniProtKB", "id": "Q6DRG7", "url": "https://www.uniprot.org/uniprotkb/Q6DRG7" } ], "pmid": "" }, { "name": "convergent extension involved in axis elongation", "id": "GO:0060028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060028", "evidence": [ { "database": "UniProtKB", "id": "Q6DRG7", "url": "https://www.uniprot.org/uniprotkb/Q6DRG7" } ], "pmid": "" }, { "name": "motor neuron axon guidance", "id": "GO:0008045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008045", "evidence": [ { "database": "UniProtKB", "id": "Q6DRG7", "url": "https://www.uniprot.org/uniprotkb/Q6DRG7" } ], "pmid": "" }, { "name": "actin filament bundle distribution", "id": "GO:0070650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070650", "evidence": [ { "database": "UniProtKB", "id": "Q6DRG7", "url": "https://www.uniprot.org/uniprotkb/Q6DRG7" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6DRG7", "url": "https://www.uniprot.org/uniprotkb/Q6DRG7" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q6DRG7", "url": "https://www.uniprot.org/uniprotkb/Q6DRG7" } ], "pmid": "" }, { "name": "A band", "id": "GO:0031672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031672", "evidence": [ { "database": "UniProtKB", "id": "Q6DRG7", "url": "https://www.uniprot.org/uniprotkb/Q6DRG7" } ], "pmid": "" }, { "name": "PTW/PP1 phosphatase complex", "id": "GO:0072357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072357", "evidence": [ { "database": "UniProtKB", "id": "Q6DRG7", "url": "https://www.uniprot.org/uniprotkb/Q6DRG7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M9QD64-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M9QD64", "url": "https://www.uniprot.org/uniprotkb/A0A8M9QD64" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 1547, "chemical_mass": 170647.0, "gene_names": "slit2;slit2", "protein_name": "Slit homolog 1 protein", "disease": [ { "disease_id": "DOID:0050144", "name": "Kartagener syndrome", "description": "A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development.", "url": "https://disease-ontology.org/term/DOID:0050144", "evidence": [ { "id": "0050144", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050144" } ], "weight": 0.0 }, { "disease_id": "DOID:0050545", "name": "visceral heterotaxy", "description": "A physical disorder characterized by the 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"https://www.ebi.ac.uk/QuickGO/term/GO:0061360", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9QD64", "url": "https://www.uniprot.org/uniprotkb/A0A8M9QD64" } ], "pmid": "" }, { "name": "optic nerve morphogenesis", "id": "GO:0021631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021631", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9QD64", "url": "https://www.uniprot.org/uniprotkb/A0A8M9QD64" } ], "pmid": "" }, { "name": "central nervous system projection neuron axonogenesis", "id": "GO:0021952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021952", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9QD64", "url": "https://www.uniprot.org/uniprotkb/A0A8M9QD64" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9QD64", "url": "https://www.uniprot.org/uniprotkb/A0A8M9QD64" } ], "pmid": "" }, { "name": "morphogenesis of a branching structure", 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progenitor cell migration to the midline involved in heart field formation", "id": "GO:0003262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003262", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9QD64", "url": "https://www.uniprot.org/uniprotkb/A0A8M9QD64" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9QD64", "url": "https://www.uniprot.org/uniprotkb/A0A8M9QD64" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9QD64", "url": "https://www.uniprot.org/uniprotkb/A0A8M9QD64" } ], "pmid": "" }, { "name": "animal organ development", "id": "GO:0048513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048513", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9QD64", "url": "https://www.uniprot.org/uniprotkb/A0A8M9QD64" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9QD64", "url": "https://www.uniprot.org/uniprotkb/A0A8M9QD64" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9QD64", "url": "https://www.uniprot.org/uniprotkb/A0A8M9QD64" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9QD64", "url": "https://www.uniprot.org/uniprotkb/A0A8M9QD64" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9QD64", "url": "https://www.uniprot.org/uniprotkb/A0A8M9QD64" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q9I9K7-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q9I9K7", "url": "https://www.uniprot.org/uniprotkb/Q9I9K7" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 446, "chemical_mass": 49303.0, "gene_names": "tbx20;ZF-TBX20;cb826;hrt;tbx20;whz", "protein_name": "T-box transcription factor TBX20", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": 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development", "id": "GO:0003313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003313", "evidence": [ { "database": "UniProtKB", "id": "Q9I9K7", "url": "https://www.uniprot.org/uniprotkb/Q9I9K7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9I9K7", "url": "https://www.uniprot.org/uniprotkb/Q9I9K7" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q9I9K7", "url": "https://www.uniprot.org/uniprotkb/Q9I9K7" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q9I9K7", "url": "https://www.uniprot.org/uniprotkb/Q9I9K7" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q9I9K7", "url": "https://www.uniprot.org/uniprotkb/Q9I9K7" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q9I9K7", "url": "https://www.uniprot.org/uniprotkb/Q9I9K7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q6TV19-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q6TV19", "url": "https://www.uniprot.org/uniprotkb/Q6TV19" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 1865, "chemical_mass": 210817.0, "gene_names": "dicer1;dicer1;fc39d11;fc74b05;wu:fc39d11;wu:fc74b05", "protein_name": "Endoribonuclease Dicer", "disease": [ { "disease_id": "DOID:0050489", "name": "multinodular goiter", "description": "A goiter characterized by a multinodular enlargement of the thyroid gland.", "url": "https://disease-ontology.org/term/DOID:0050489", "evidence": [ { "id": "0050489", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050489" } ], "weight": 0.0 }, { "disease_id": "DOID:0050745", "name": "diffuse large B-cell lymphoma", "description": "A large B-cell lymphoma that is consisting of medium-sized to large B cells with a diffuse growth pattern.", "url": "https://disease-ontology.org/term/DOID:0050745", "evidence": [ { "id": "0050745", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050745" } ], "weight": 0.0 }, { "disease_id": "DOID:0080615", "name": "nephroma", "description": "A kidney benign neoplasm that is located_in the kidney cortex.", "url": 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Mutations of the gene encoding the endoribonuclease, Dicer, disrupts the biogenesis and processing of miRNAs with subsequent disruption in control of gene expression.", "url": "https://disease-ontology.org/term/DOID:0081063", "evidence": [ { "id": "0081063", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081063" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:11198", "name": "DiGeorge syndrome", "description": "A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production.", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q6TV19", "url": "https://www.uniprot.org/uniprotkb/Q6TV19" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q6TV19", "url": "https://www.uniprot.org/uniprotkb/Q6TV19" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q6TV19", "url": "https://www.uniprot.org/uniprotkb/Q6TV19" } ], "pmid": "" }, { "name": "helicase activity", "id": "GO:0004386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004386", "evidence": [ { "database": "UniProtKB", "id": "Q6TV19", "url": "https://www.uniprot.org/uniprotkb/Q6TV19" } ], "pmid": "" }, { "name": "ribonuclease III activity", "id": "GO:0004525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004525", "evidence": [ { 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"A0A8M9Q7Y5-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M9Q7Y5", "url": "https://www.uniprot.org/uniprotkb/A0A8M9Q7Y5" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 1392, "chemical_mass": 156023.0, "gene_names": "si:ch73-383l1.1;si:ch73-383l1.1", "protein_name": "Receptor protein-tyrosine kinase", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID:0050865", "name": "tongue squamous cell carcinoma", "description": "A head and neck squamous cell carcinoma that is located_in the tongue.", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005154", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9Q7Y5", "url": "https://www.uniprot.org/uniprotkb/A0A8M9Q7Y5" } ], "pmid": "" }, { "name": "transmembrane receptor protein tyrosine kinase activity", "id": "GO:0004714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004714", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9Q7Y5", "url": "https://www.uniprot.org/uniprotkb/A0A8M9Q7Y5" } ], "pmid": "" }, { "name": "kinase activity", "id": "GO:0016301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9Q7Y5", "url": "https://www.uniprot.org/uniprotkb/A0A8M9Q7Y5" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9Q7Y5", "url": "https://www.uniprot.org/uniprotkb/A0A8M9Q7Y5" } ], "pmid": "" }, { "name": "receptor complex", 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"Q9IAK8", "url": "https://www.uniprot.org/uniprotkb/Q9IAK8" } ], "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": "Q9IAK8", "url": "https://www.uniprot.org/uniprotkb/Q9IAK8" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q9IAK8", "url": "https://www.uniprot.org/uniprotkb/Q9IAK8" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q9IAK8", "url": "https://www.uniprot.org/uniprotkb/Q9IAK8" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { 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"id": "Q9IAK8", "url": "https://www.uniprot.org/uniprotkb/Q9IAK8" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "Q9IAK8", "url": "https://www.uniprot.org/uniprotkb/Q9IAK8" } ], "pmid": "" }, { "name": "optic nerve development", "id": "GO:0021554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021554", "evidence": [ { "database": "UniProtKB", "id": "Q9IAK8", "url": "https://www.uniprot.org/uniprotkb/Q9IAK8" } ], "pmid": "" }, { "name": "limb bud formation", "id": "GO:0060174", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060174", "evidence": [ { "database": "UniProtKB", "id": "Q9IAK8", "url": "https://www.uniprot.org/uniprotkb/Q9IAK8" } ], "pmid": "" }, { "name": "atrial ventricular junction remodeling", "id": "GO:0003294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003294", "evidence": [ { "database": "UniProtKB", "id": "Q9IAK8", "url": 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"evidence": [ { "database": "UniProtKB", "id": "Q9IAK8", "url": "https://www.uniprot.org/uniprotkb/Q9IAK8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M9QDJ7-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M9QDJ7", "url": "https://www.uniprot.org/uniprotkb/A0A8M9QDJ7" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 685, "chemical_mass": 77900.0, "gene_names": "prkcdb;prkcdb;prkcd", "protein_name": "Protein kinase C delta type", "disease": [ { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", 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"https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q6DHM9", "url": "https://www.uniprot.org/uniprotkb/Q6DHM9" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q6DHM9", "url": "https://www.uniprot.org/uniprotkb/Q6DHM9" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q6DHM9", "url": "https://www.uniprot.org/uniprotkb/Q6DHM9" } ], "pmid": "" }, { "name": "G protein activity", "id": "GO:0003925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003925", "evidence": [ { "database": "UniProtKB", "id": "Q6DHM9", "url": "https://www.uniprot.org/uniprotkb/Q6DHM9" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q6DHM9", "url": "https://www.uniprot.org/uniprotkb/Q6DHM9" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6DHM9", "url": "https://www.uniprot.org/uniprotkb/Q6DHM9" } ], "pmid": "" } ], "biological_process": [ { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "Q6DHM9", "url": "https://www.uniprot.org/uniprotkb/Q6DHM9" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q6DHM9", "url": "https://www.uniprot.org/uniprotkb/Q6DHM9" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q6DHM9", "url": "https://www.uniprot.org/uniprotkb/Q6DHM9" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "Q6DHM9", "url": "https://www.uniprot.org/uniprotkb/Q6DHM9" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q6DHM9", "url": "https://www.uniprot.org/uniprotkb/Q6DHM9" } ], "pmid": "" }, { "name": "Rho protein signal transduction", "id": "GO:0007266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007266", "evidence": [ { "database": "UniProtKB", "id": "Q6DHM9", "url": "https://www.uniprot.org/uniprotkb/Q6DHM9" } ], "pmid": "" }, { "name": "regulation of Rho protein signal transduction", "id": "GO:0035023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035023", "evidence": [ { "database": "UniProtKB", "id": "Q6DHM9", "url": "https://www.uniprot.org/uniprotkb/Q6DHM9" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q6DHM9", "url": "https://www.uniprot.org/uniprotkb/Q6DHM9" } ], "pmid": "" }, { "name": "cell migration involved in gastrulation", "id": "GO:0042074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042074", "evidence": [ { "database": "UniProtKB", "id": "Q6DHM9", "url": "https://www.uniprot.org/uniprotkb/Q6DHM9" } ], "pmid": "" }, { "name": "otolith development", "id": "GO:0048840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048840", "evidence": [ { "database": "UniProtKB", "id": "Q6DHM9", "url": "https://www.uniprot.org/uniprotkb/Q6DHM9" } ], "pmid": "" }, { "name": "establishment of mitotic spindle localization", "id": "GO:0040001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040001", "evidence": [ { "database": "UniProtKB", "id": "Q6DHM9", "url": "https://www.uniprot.org/uniprotkb/Q6DHM9" } ], "pmid": "" }, { "name": "skeletal muscle satellite cell migration", "id": "GO:1902766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902766", "evidence": [ { "database": "UniProtKB", "id": "Q6DHM9", "url": "https://www.uniprot.org/uniprotkb/Q6DHM9" } ], "pmid": "" }, { "name": "post-anal tail morphogenesis", "id": "GO:0036342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036342", "evidence": [ { "database": "UniProtKB", "id": "Q6DHM9", "url": "https://www.uniprot.org/uniprotkb/Q6DHM9" } ], "pmid": "" }, { "name": "wound healing, spreading of cells", "id": "GO:0044319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044319", "evidence": [ { "database": "UniProtKB", "id": "Q6DHM9", "url": "https://www.uniprot.org/uniprotkb/Q6DHM9" } ], "pmid": "" }, { "name": "small GTPase-mediated signal transduction", "id": "GO:0007264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007264", "evidence": [ { "database": "UniProtKB", "id": "Q6DHM9", "url": "https://www.uniprot.org/uniprotkb/Q6DHM9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6DHM9-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Tyr34", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "Y", "relation": "attached", "comment": "O-linked (GlcNAc) tyrosine;O-GlcNAcylation", "icn3d_view": {}, "start_pos": 34, "start_aa": "Tyr", "end_pos": 34, "end_aa": "Tyr", "residue": "Tyr", "site_lbl": "Tyr34", "evidence": [ { "id": "Q6DHM9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6DHM9#ptm_processing" }, { "id": "26190758", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26190758" } ] } ] } ], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q9I8N6-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q9I8N6", "url": "https://www.uniprot.org/uniprotkb/Q9I8N6" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 977, "chemical_mass": 110188.0, "gene_names": "csf1ra;csf1r;CSF-1R;M-CSF-R;csf1ra;csf1r;fms;panther;si:zfos-1069f5.1", "protein_name": "Macrophage colony-stimulating factor 1 receptor", "disease": [ { "disease_id": "DOID:0070343", "name": "CSF1R-related brain malformation and osteopetrosis", "description": "A neuroaxonal dystrophy that has_material_basis_in heterozygous 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"Q6IWL4", "url": "https://www.uniprot.org/uniprotkb/Q6IWL4" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "Q6IWL4", "url": "https://www.uniprot.org/uniprotkb/Q6IWL4" } ], "pmid": "" }, { "name": "response to virus", "id": "GO:0009615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009615", "evidence": [ { "database": "UniProtKB", "id": "Q6IWL4", "url": "https://www.uniprot.org/uniprotkb/Q6IWL4" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q6IWL4", "url": "https://www.uniprot.org/uniprotkb/Q6IWL4" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q6IWL4", "url": "https://www.uniprot.org/uniprotkb/Q6IWL4" } ], "pmid": "" }, { "name": "lipopolysaccharide-mediated signaling pathway", "id": "GO:0031663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031663", "evidence": [ { "database": "UniProtKB", "id": "Q6IWL4", "url": "https://www.uniprot.org/uniprotkb/Q6IWL4" } ], "pmid": "" }, { "name": "non-canonical NF-kappaB signal transduction", "id": "GO:0038061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038061", "evidence": [ { "database": "UniProtKB", "id": "Q6IWL4", "url": "https://www.uniprot.org/uniprotkb/Q6IWL4" } ], "pmid": "" }, { "name": "regulation of canonical NF-kappaB signal transduction", "id": "GO:0043122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043122", "evidence": [ { "database": "UniProtKB", "id": "Q6IWL4", "url": "https://www.uniprot.org/uniprotkb/Q6IWL4" } ], "pmid": "" }, { "name": "protein K63-linked ubiquitination", "id": "GO:0070534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070534", "evidence": [ { "database": "UniProtKB", "id": "Q6IWL4", "url": "https://www.uniprot.org/uniprotkb/Q6IWL4" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q6IWL4", "url": "https://www.uniprot.org/uniprotkb/Q6IWL4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q6NSN2-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q6NSN2", "url": "https://www.uniprot.org/uniprotkb/Q6NSN2" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 522, "chemical_mass": 58765.0, "gene_names": "mao;Z-MAO;maob;mao;moa;wu:fb68b05;wu:fo76d11;wu:fq38g06;zgc:85761", "protein_name": "Amine oxidase [flavin-containing]", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum 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"sites": [ { "uniprot_canonical_ac": "Q6NSN5-1", "start_pos": "169", "end_pos": "169", "site_lbl": "Thr169", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 169, "start_aa": "Thr", "end_pos": 169, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr169", "evidence": [ { "id": "", "database": "GlyGen", "url": "https://data.glygen.org/" } ] } ] }, { "uniprot_canonical_ac": "Q6NSN5-1", "start_pos": "130", "end_pos": "130", "site_lbl": "Ser130", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6NSN5", "url": "https://www.uniprot.org/uniprotkb/Q6NSN5" }, { "database": "PubMed", "id": "18307296", "url": "https://glygen.org/publication/PubMed/18307296" }, { "database": "iPTMnet", "id": "Q6NSN5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6NSN5" } ] } ] } ], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q6NW58-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q6NW58", "url": "https://www.uniprot.org/uniprotkb/Q6NW58" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 570, "chemical_mass": 63086.0, "gene_names": "spast;SPAST;SPG4;si:ch73-233a22.3;spast;spg4;zgc:85952", "protein_name": "Spastin", "disease": [ { "disease_id": "DOID:0110792", "name": "hereditary spastic paraplegia 4", "description": "A hereditary spastic paraplegia that is characterized by slowly progressive muscle weakness and spasticity and has_material_basis_in mutation in the SPAST gene on chromosome 2p22.", "url": 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"end_pos": 229, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr229", "evidence": [ { "id": "", "database": "GlyGen", "url": "https://data.glygen.org/" } ] } ] } ], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q6P0E5-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q6P0E5", "url": "https://www.uniprot.org/uniprotkb/Q6P0E5" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 300, "chemical_mass": 34431.0, "gene_names": "ddrgk1;ddrgk1;zgc:56488;zgc:77356", "protein_name": "DDRGK domain-containing protein 1", "disease": [], "biological_process": [ { "name": "rescue of stalled ribosome", "id": "GO:0072344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072344", "evidence": [ { "database": "UniProtKB", "id": "Q6P0E5", "url": "https://www.uniprot.org/uniprotkb/Q6P0E5" } ], "pmid": "" }, { "name": "ribosome disassembly", "id": "GO:0032790", "url": 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"https://www.uniprot.org/uniprotkb/Q6P7E4" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "Q6P7E4", "url": "https://www.uniprot.org/uniprotkb/Q6P7E4" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q6P7E4", "url": "https://www.uniprot.org/uniprotkb/Q6P7E4" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q6P7E4", "url": "https://www.uniprot.org/uniprotkb/Q6P7E4" } ], "pmid": "" }, { "name": "stress fiber", "id": "GO:0001725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001725", "evidence": [ { "database": "UniProtKB", "id": "Q6P7E4", "url": "https://www.uniprot.org/uniprotkb/Q6P7E4" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q6P7E4", "url": "https://www.uniprot.org/uniprotkb/Q6P7E4" } ], "pmid": "" }, { "name": "filamentous actin", "id": "GO:0031941", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031941", "evidence": [ { "database": "UniProtKB", "id": "Q6P7E4", "url": "https://www.uniprot.org/uniprotkb/Q6P7E4" } ], "pmid": "" } ], "biological_process": [ { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q6P7E4", "url": "https://www.uniprot.org/uniprotkb/Q6P7E4" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q6P7E4", "url": "https://www.uniprot.org/uniprotkb/Q6P7E4" } ], "pmid": "" }, { "name": "somitogenesis", "id": "GO:0001756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001756", "evidence": [ { "database": "UniProtKB", "id": "Q6P7E4", "url": "https://www.uniprot.org/uniprotkb/Q6P7E4" } ], "pmid": "" }, { "name": "embryonic heart tube morphogenesis", "id": "GO:0003143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003143", "evidence": [ { "database": "UniProtKB", "id": "Q6P7E4", "url": "https://www.uniprot.org/uniprotkb/Q6P7E4" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "Q6P7E4", "url": "https://www.uniprot.org/uniprotkb/Q6P7E4" } ], "pmid": "" }, { "name": "atrial ventricular junction remodeling", "id": "GO:0003294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003294", "evidence": [ { "database": "UniProtKB", "id": "Q6P7E4", "url": "https://www.uniprot.org/uniprotkb/Q6P7E4" } ], "pmid": "" }, { "name": "muscle structure development", "id": "GO:0061061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061061", "evidence": [ { "database": "UniProtKB", "id": "Q6P7E4", "url": "https://www.uniprot.org/uniprotkb/Q6P7E4" } ], "pmid": "" }, { "name": "atrioventricular valve formation", "id": "GO:0003190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003190", "evidence": [ { "database": "UniProtKB", "id": "Q6P7E4", "url": "https://www.uniprot.org/uniprotkb/Q6P7E4" } ], "pmid": "" }, { "name": "pectoral fin development", "id": "GO:0033339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033339", "evidence": [ { "database": "UniProtKB", "id": "Q6P7E4", "url": "https://www.uniprot.org/uniprotkb/Q6P7E4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6P7E4-1", "start_pos": "218", "end_pos": "218", "site_lbl": "Thr218", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 218, "start_aa": "Thr", "end_pos": 218, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr218", "evidence": [ { "id": "", "database": "GlyGen", "url": "https://data.glygen.org/" } ] } ] } ], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q6PBT8-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q6PBT8", "url": "https://www.uniprot.org/uniprotkb/Q6PBT8" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 147, "chemical_mass": 16638.0, "gene_names": "fgf1;HBGF-1;aFGF;fgf-1;fgf1a;fgf1;zgc:73249", "protein_name": "Putative fibroblast growth factor 1", "disease": [ { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, 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"weight": 0.0 }, { "disease_id": "DOID:127", "name": "leiomyoma", "description": "A cell type benign neoplasm that is a benign tumor of smooth muscle cells.", "url": "https://disease-ontology.org/term/DOID:127", "evidence": [ { "id": "127", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:127" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], 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"GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q6PBT8", "url": "https://www.uniprot.org/uniprotkb/Q6PBT8" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q6PBT8", "url": "https://www.uniprot.org/uniprotkb/Q6PBT8" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6PBT8", "url": "https://www.uniprot.org/uniprotkb/Q6PBT8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6PBT8", "url": "https://www.uniprot.org/uniprotkb/Q6PBT8" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q6PBT8", "url": "https://www.uniprot.org/uniprotkb/Q6PBT8" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q6PBT8", "url": "https://www.uniprot.org/uniprotkb/Q6PBT8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q6PBW5-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q6PBW5", "url": "https://www.uniprot.org/uniprotkb/Q6PBW5" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 531, "chemical_mass": 60789.0, "gene_names": "rpe65a;RPE56a;rpe65a;rpepa;zgc:73213", "protein_name": "Retinoid isomerohydrolase", "disease": [ { "disease_id": "DOID:0110016", "name": "Leber congenital amaurosis 2", "description": "A Leber congenital 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"evidence": [ { "database": "UniProtKB", "id": "Q6PE18", "url": "https://www.uniprot.org/uniprotkb/Q6PE18" } ], "pmid": "" }, { "name": "Golgi organization", "id": "GO:0007030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007030", "evidence": [ { "database": "UniProtKB", "id": "Q6PE18", "url": "https://www.uniprot.org/uniprotkb/Q6PE18" } ], "pmid": "" }, { "name": "phosphatidylinositol phosphate biosynthetic process", "id": "GO:0046854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046854", "evidence": [ { "database": "UniProtKB", "id": "Q6PE18", "url": "https://www.uniprot.org/uniprotkb/Q6PE18" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6PE18-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Thr34", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 34, "start_aa": "Thr", "end_pos": 34, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr34", "evidence": [ { "id": "", "database": "GlyGen", "url": "https://data.glygen.org/" } ] } ] } ], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q6PFM0-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q6PFM0", "url": "https://www.uniprot.org/uniprotkb/Q6PFM0" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 403, "chemical_mass": 46687.0, "gene_names": "jmjd6;jmjd6a;jmjd6;psr;ptdsr;zfpsr;zgc:66264", "protein_name": "Bifunctional arginine demethylase and lysyl-hydroxylase JMJD6", "disease": [], "biological_process": [ { "name": "peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine", "id": "GO:0018395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018395", "evidence": [ { "database": "UniProtKB", "id": "Q6PFM0", "url": "https://www.uniprot.org/uniprotkb/Q6PFM0" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q6PFM0", "url": "https://www.uniprot.org/uniprotkb/Q6PFM0" } ], "pmid": "" }, { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "Q6PFM0", "url": "https://www.uniprot.org/uniprotkb/Q6PFM0" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q6PFM0", "url": "https://www.uniprot.org/uniprotkb/Q6PFM0" } ], "pmid": "" }, { "name": "protein homooligomerization", "id": "GO:0051260", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0048024", "evidence": [ { "database": "UniProtKB", "id": "Q6PFM0", "url": "https://www.uniprot.org/uniprotkb/Q6PFM0" } ], "pmid": "" } ], "molecular_function": [ { "name": "histone H3R2 demethylase activity", "id": "GO:0033746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033746", "evidence": [ { "database": "UniProtKB", "id": "Q6PFM0", "url": "https://www.uniprot.org/uniprotkb/Q6PFM0" } ], "pmid": "" }, { "name": "histone H4R3 demethylase activity", "id": "GO:0033749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033749", "evidence": [ { "database": "UniProtKB", "id": "Q6PFM0", "url": "https://www.uniprot.org/uniprotkb/Q6PFM0" } ], "pmid": "" }, { "name": "peptidyl-lysine 5-dioxygenase activity", "id": "GO:0070815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070815", "evidence": [ { "database": "UniProtKB", "id": "Q6PFM0", "url": "https://www.uniprot.org/uniprotkb/Q6PFM0" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q6PFM0", "url": "https://www.uniprot.org/uniprotkb/Q6PFM0" } ], "pmid": "" }, { "name": "single-stranded RNA binding", "id": "GO:0003727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003727", "evidence": [ { "database": "UniProtKB", "id": "Q6PFM0", "url": "https://www.uniprot.org/uniprotkb/Q6PFM0" } ], "pmid": "" }, { "name": "histone demethylase activity", "id": "GO:0032452", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032452", "evidence": [ { "database": "UniProtKB", "id": "Q6PFM0", "url": "https://www.uniprot.org/uniprotkb/Q6PFM0" } ], "pmid": "" }, { "name": "P-TEFb complex binding", "id": "GO:0106140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106140", "evidence": [ { "database": "UniProtKB", "id": "Q6PFM0", "url": "https://www.uniprot.org/uniprotkb/Q6PFM0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6PFM0", "url": "https://www.uniprot.org/uniprotkb/Q6PFM0" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q6PFM0", "url": "https://www.uniprot.org/uniprotkb/Q6PFM0" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q6PFM0", "url": "https://www.uniprot.org/uniprotkb/Q6PFM0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6PFM0", "url": "https://www.uniprot.org/uniprotkb/Q6PFM0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q6PGY3-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q6PGY3", "url": "https://www.uniprot.org/uniprotkb/Q6PGY3" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 359, "chemical_mass": 39412.0, "gene_names": "slc25a1a;slc25a1a;slc25a1;zgc:63578", "protein_name": "Tricarboxylate transport protein A, mitochondrial", "disease": [ { "disease_id": "DOID:0050573", "name": "2-hydroxyglutaric aciduria", "description": "An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage.", "url": "https://disease-ontology.org/term/DOID:0050573", "evidence": [ { "id": "0050573", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050573" } ], "weight": 0.0 }, { "disease_id": "DOID:0060413", "name": "chromosome 22q11.2 deletion syndrome, 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"gene_names": "ufl1;ufl1;zgc:63562", "protein_name": "E3 UFM1-protein ligase 1", "disease": [], "biological_process": [ { "name": "rescue of stalled ribosome", "id": "GO:0072344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072344", "evidence": [ { "database": "UniProtKB", "id": "Q6PGY6", "url": "https://www.uniprot.org/uniprotkb/Q6PGY6" } ], "pmid": "" }, { "name": "ribosome disassembly", "id": "GO:0032790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032790", "evidence": [ { "database": "UniProtKB", "id": "Q6PGY6", "url": "https://www.uniprot.org/uniprotkb/Q6PGY6" } ], "pmid": "" }, { "name": "regulation of telomere maintenance", "id": "GO:0032204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032204", "evidence": [ { "database": "UniProtKB", "id": "Q6PGY6", "url": "https://www.uniprot.org/uniprotkb/Q6PGY6" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q6PGY6", "url": "https://www.uniprot.org/uniprotkb/Q6PGY6" } ], "pmid": "" }, { "name": "hematopoietic stem cell differentiation", "id": "GO:0060218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060218", "evidence": [ { "database": "UniProtKB", "id": "Q6PGY6", "url": "https://www.uniprot.org/uniprotkb/Q6PGY6" } ], "pmid": "" }, { "name": "erythrocyte differentiation", "id": "GO:0030218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030218", "evidence": [ { "database": "UniProtKB", "id": "Q6PGY6", "url": "https://www.uniprot.org/uniprotkb/Q6PGY6" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "Q6PGY6", "url": "https://www.uniprot.org/uniprotkb/Q6PGY6" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q6PGY6", "url": "https://www.uniprot.org/uniprotkb/Q6PGY6" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "Q6PGY6", "url": "https://www.uniprot.org/uniprotkb/Q6PGY6" } ], "pmid": "" }, { "name": "regulation of canonical NF-kappaB signal transduction", "id": "GO:0043122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043122", "evidence": [ { "database": "UniProtKB", "id": "Q6PGY6", "url": "https://www.uniprot.org/uniprotkb/Q6PGY6" } ], "pmid": "" }, { "name": "DNA damage checkpoint signaling", "id": "GO:0000077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000077", "evidence": [ { "database": "UniProtKB", "id": "Q6PGY6", "url": "https://www.uniprot.org/uniprotkb/Q6PGY6" } ], "pmid": "" }, { "name": "protein ufmylation", "id": "GO:0071569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071569", "evidence": [ { "database": "UniProtKB", 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advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:1923", "name": "disorder of sexual development", "description": "A gonadal disease that is characterized by atypical development of chromosomal, gonadal, or anatomic sex.", "url": "https://disease-ontology.org/term/DOID:1923", "evidence": [ { "id": "1923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1923" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and 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biosynthetic process", "id": "GO:0061370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061370", "evidence": [ { "database": "UniProtKB", "id": "Q6QA32", "url": "https://www.uniprot.org/uniprotkb/Q6QA32" } ], "pmid": "" } ], "molecular_function": [ { "name": "testosterone dehydrogenase (NADP+) activity", "id": "GO:0047045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047045", "evidence": [ { "database": "UniProtKB", "id": "Q6QA32", "url": "https://www.uniprot.org/uniprotkb/Q6QA32" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q6QU75-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q6QU75", "url": "https://www.uniprot.org/uniprotkb/Q6QU75" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 293, "chemical_mass": 32438.0, "gene_names": "pitx3;pitx3;si:dkey-196H17.1;zgc:109716", "protein_name": "Pituitary homeobox 3", "disease": [ { "disease_id": "DOID:0060648", "name": "anterior segment dysgenesis", "description": "An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located_in the anterior segment of the eye.", "url": "https://disease-ontology.org/term/DOID:0060648", "evidence": [ { "id": "0060648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060648" } ], "weight": 0.0 }, { "disease_id": "DOID:0080606", "name": "anterior segment dysgenesis 1", "description": "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24.", "url": "https://disease-ontology.org/term/DOID:0080606", "evidence": [ { "id": "0080606", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080606" } ], "weight": 0.0 }, { "disease_id": "DOID:0110249", "name": "cataract 11 multiple types", "description": "A cataract that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24.", "url": "https://disease-ontology.org/term/DOID:0110249", "evidence": [ { "id": "0110249", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110249" } ], "weight": 0.0 }, { "disease_id": "DOID:0110266", "name": "cataract 9 multiple types", "description": "A cataract that has_material_basis_in autosomal recessive or autosomal dominant inheritance of heterozygous or homozygous mutation in the CRYAA gene, which encodes alpha-A-crystallin, on chromosome 21q22.", "url": "https://disease-ontology.org/term/DOID:0110266", "evidence": [ { "id": "0110266", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110266" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 } ], "biological_process": [ { "name": "adenohypophysis development", "id": "GO:0021984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021984", "evidence": [ { "database": "UniProtKB", "id": "Q6QU75", "url": "https://www.uniprot.org/uniprotkb/Q6QU75" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q6QU75", "url": "https://www.uniprot.org/uniprotkb/Q6QU75" } ], "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": "Q6QU75", "url": "https://www.uniprot.org/uniprotkb/Q6QU75" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q6QU75", "url": "https://www.uniprot.org/uniprotkb/Q6QU75" } ], "pmid": "" }, { "name": "endocrine system development", "id": "GO:0035270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035270", "evidence": [ { "database": "UniProtKB", "id": "Q6QU75", "url": "https://www.uniprot.org/uniprotkb/Q6QU75" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "Q6QU75", "url": "https://www.uniprot.org/uniprotkb/Q6QU75" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "Q6QU75", "url": "https://www.uniprot.org/uniprotkb/Q6QU75" } ], "pmid": "" }, { "name": "lens development in camera-type eye", "id": "GO:0002088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002088", "evidence": [ { "database": "UniProtKB", "id": "Q6QU75", "url": "https://www.uniprot.org/uniprotkb/Q6QU75" } ], "pmid": "" }, { "name": "lens fiber cell differentiation", "id": "GO:0070306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070306", "evidence": [ { "database": "UniProtKB", "id": "Q6QU75", "url": "https://www.uniprot.org/uniprotkb/Q6QU75" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6QU75", "url": "https://www.uniprot.org/uniprotkb/Q6QU75" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q6QU75", "url": "https://www.uniprot.org/uniprotkb/Q6QU75" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q6QU75", "url": "https://www.uniprot.org/uniprotkb/Q6QU75" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q6QU75", "url": "https://www.uniprot.org/uniprotkb/Q6QU75" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q6R005-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q6R005", "url": "https://www.uniprot.org/uniprotkb/Q6R005" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 801, "chemical_mass": 89140.0, "gene_names": "dlg4;dlg4b;dlg4", "protein_name": "Disks large homolog 4", "disease": [ { "disease_id": "DOID:0060037", "name": "developmental disorder of mental health", "description": "A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.", "url": "https://disease-ontology.org/term/DOID:0060037", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ], "weight": 0.0 }, { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. 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"https://disease-ontology.org/term/DOID:0060419", "evidence": [ { "id": "0060419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060419" } ], "weight": 0.0 }, { "disease_id": "DOID:0061035", "name": "autosomal dominant intellectual developmental disorder 62", "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in caused by heterozygous mutation in the DLG4 gene on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:0061035", "evidence": [ { "id": "0061035", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061035" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by 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"url": "https://disease-ontology.org/term/DOID:305", "evidence": [ { "id": "305", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:305" } ], "weight": 0.0 }, { "disease_id": "DOID:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 }, { "disease_id": "DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 } ], "biological_process": [ { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q6R005", "url": "https://www.uniprot.org/uniprotkb/Q6R005" } ], "pmid": "" }, { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "Q6R005", "url": "https://www.uniprot.org/uniprotkb/Q6R005" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q6R005", "url": "https://www.uniprot.org/uniprotkb/Q6R005" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q6R005", "url": "https://www.uniprot.org/uniprotkb/Q6R005" } ], "pmid": "" }, { "name": "AMPA glutamate receptor clustering", "id": "GO:0097113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097113", "evidence": [ { "database": "UniProtKB", "id": "Q6R005", "url": "https://www.uniprot.org/uniprotkb/Q6R005" } ], "pmid": "" }, { "name": "protein localization to synapse", "id": "GO:0035418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035418", "evidence": [ { "database": "UniProtKB", "id": "Q6R005", "url": "https://www.uniprot.org/uniprotkb/Q6R005" } ], "pmid": "" }, { "name": "receptor localization to synapse", "id": "GO:0097120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097120", "evidence": [ { "database": "UniProtKB", "id": "Q6R005", "url": "https://www.uniprot.org/uniprotkb/Q6R005" } ], "pmid": "" }, { "name": "regulation of postsynaptic membrane neurotransmitter receptor levels", "id": "GO:0099072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099072", "evidence": [ { "database": "UniProtKB", "id": "Q6R005", "url": "https://www.uniprot.org/uniprotkb/Q6R005" } ], "pmid": "" } ], "cellular_component": [ { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q6R005", "url": "https://www.uniprot.org/uniprotkb/Q6R005" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "Q6R005", "url": "https://www.uniprot.org/uniprotkb/Q6R005" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q6R005", "url": "https://www.uniprot.org/uniprotkb/Q6R005" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q6R005", "url": "https://www.uniprot.org/uniprotkb/Q6R005" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "Q6R005", "url": "https://www.uniprot.org/uniprotkb/Q6R005" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q6R005", "url": "https://www.uniprot.org/uniprotkb/Q6R005" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q6R005", "url": "https://www.uniprot.org/uniprotkb/Q6R005" } ], "pmid": "" }, { "name": "ionotropic glutamate receptor binding", "id": "GO:0035255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035255", "evidence": [ { "database": "UniProtKB", "id": "Q6R005", "url": "https://www.uniprot.org/uniprotkb/Q6R005" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q6R8J2-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q6R8J2", "url": "https://www.uniprot.org/uniprotkb/Q6R8J2" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 977, "chemical_mass": 105529.0, "gene_names": "heg1;heg;heg", "protein_name": "Protein HEG", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q6R8J2", "url": "https://www.uniprot.org/uniprotkb/Q6R8J2" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6R8J2", "url": "https://www.uniprot.org/uniprotkb/Q6R8J2" } ], "pmid": "" }, { "name": "anchoring junction", "id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0060536", "evidence": [ { "database": "UniProtKB", "id": "Q6TEN1", "url": "https://www.uniprot.org/uniprotkb/Q6TEN1" } ], "pmid": "" }, { "name": "somite rostral/caudal axis specification", "id": "GO:0032525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032525", "evidence": [ { "database": "UniProtKB", "id": "Q6TEN1", "url": "https://www.uniprot.org/uniprotkb/Q6TEN1" } ], "pmid": "" }, { "name": "convergent extension", "id": "GO:0060026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060026", "evidence": [ { "database": "UniProtKB", "id": "Q6TEN1", "url": "https://www.uniprot.org/uniprotkb/Q6TEN1" } ], "pmid": "" }, { "name": "convergent extension involved in gastrulation", "id": "GO:0060027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060027", "evidence": [ { "database": "UniProtKB", "id": "Q6TEN1", "url": "https://www.uniprot.org/uniprotkb/Q6TEN1" } ], "pmid": "" }, { "name": "chondrocyte intercalation involved in growth plate cartilage morphogenesis", "id": "GO:0003428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003428", "evidence": [ { "database": "UniProtKB", "id": "Q6TEN1", "url": "https://www.uniprot.org/uniprotkb/Q6TEN1" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q6TEN1", "url": "https://www.uniprot.org/uniprotkb/Q6TEN1" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q6TEN1", "url": "https://www.uniprot.org/uniprotkb/Q6TEN1" } ], "pmid": "" }, { "name": "MAP kinase kinase activity", "id": "GO:0004708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004708", "evidence": [ { "database": "UniProtKB", "id": "Q6TEN1", "url": "https://www.uniprot.org/uniprotkb/Q6TEN1" } ], "pmid": "" }, { "name": "G protein activity", "id": "GO:0003925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003925", "evidence": [ { "database": "UniProtKB", "id": "Q6TEN1", "url": "https://www.uniprot.org/uniprotkb/Q6TEN1" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q6TEN1", "url": "https://www.uniprot.org/uniprotkb/Q6TEN1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6TEN1", "url": "https://www.uniprot.org/uniprotkb/Q6TEN1" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q6TEN1", "url": "https://www.uniprot.org/uniprotkb/Q6TEN1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q6VN46-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q6VN46", "url": "https://www.uniprot.org/uniprotkb/Q6VN46" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 147, "chemical_mass": 15583.0, "gene_names": "mb;mb;zgc:65819;zgc:77764", "protein_name": "Myoglobin", "disease": [ { "disease_id": "DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.", "url": "https://disease-ontology.org/term/DOID:0080600", "evidence": [ { "id": "0080600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ], "weight": 0.0 }, { "disease_id": "DOID:11758", "name": "iron deficiency anemia", "description": "A microcytic anemia that is characterized by pallor, fatigue, lightheadedness, and weakness and has_material_basis_in low total body iron causing impaired synthesis of red blood cells.", "url": "https://disease-ontology.org/term/DOID:11758", "evidence": [ { "id": "11758", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11758" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:670", "name": "amphetamine abuse", "description": "A substance abuse that involves the recurring use of amphetamines despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:670", "evidence": [ { "id": "670", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:670" } ], "weight": 0.0 }, { "disease_id": "DOID:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "weight": 0.0 }, { "disease_id": "DOID:809", "name": "cocaine abuse", "description": "A substance abuse that involves the recurring use of cocaine despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:809", "evidence": [ { "id": "809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:809" } ], "weight": 0.0 } ], "biological_process": [ { "name": "vasculogenesis", "id": "GO:0001570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001570", "evidence": [ { "database": "UniProtKB", "id": "Q6VN46", "url": "https://www.uniprot.org/uniprotkb/Q6VN46" } ], "pmid": "" }, { "name": "skeletal muscle contraction", "id": "GO:0003009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003009", "evidence": [ { "database": "UniProtKB", "id": "Q6VN46", "url": "https://www.uniprot.org/uniprotkb/Q6VN46" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q6VN46", "url": "https://www.uniprot.org/uniprotkb/Q6VN46" } ], "pmid": "" }, { "name": "response to activity", "id": "GO:0014823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014823", "evidence": [ { "database": "UniProtKB", "id": "Q6VN46", "url": "https://www.uniprot.org/uniprotkb/Q6VN46" } ], "pmid": "" }, { "name": "removal of superoxide radicals", "id": "GO:0019430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019430", "evidence": [ { "database": "UniProtKB", "id": "Q6VN46", "url": "https://www.uniprot.org/uniprotkb/Q6VN46" } ], "pmid": "" }, { "name": "digestive tract development", "id": "GO:0048565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048565", "evidence": [ { "database": "UniProtKB", "id": "Q6VN46", "url": "https://www.uniprot.org/uniprotkb/Q6VN46" } ], "pmid": "" }, { "name": "oxygen transport", "id": "GO:0015671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015671", "evidence": [ { "database": "UniProtKB", "id": "Q6VN46", "url": "https://www.uniprot.org/uniprotkb/Q6VN46" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q6VN46", "url": "https://www.uniprot.org/uniprotkb/Q6VN46" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q6VN46", "url": "https://www.uniprot.org/uniprotkb/Q6VN46" } ], "pmid": "" }, { "name": "oxygen binding", "id": "GO:0019825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019825", "evidence": [ { "database": "UniProtKB", "id": "Q6VN46", "url": "https://www.uniprot.org/uniprotkb/Q6VN46" } ], "pmid": "" }, { "name": "peroxidase activity", "id": "GO:0004601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004601", "evidence": [ { "database": "UniProtKB", "id": "Q6VN46", "url": "https://www.uniprot.org/uniprotkb/Q6VN46" } ], "pmid": "" }, { "name": "oxygen carrier activity", "id": "GO:0005344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005344", "evidence": [ { "database": "UniProtKB", "id": "Q6VN46", "url": "https://www.uniprot.org/uniprotkb/Q6VN46" } ], "pmid": "" }, { "name": "nitrite reductase activity", "id": "GO:0098809", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098809", "evidence": [ { "database": "UniProtKB", "id": "Q6VN46", "url": "https://www.uniprot.org/uniprotkb/Q6VN46" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "Q6VN46", "url": "https://www.uniprot.org/uniprotkb/Q6VN46" } ], "pmid": "" } ], "cellular_component": [ { "name": "sarcoplasm", "id": "GO:0016528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016528", "evidence": [ { "database": "UniProtKB", "id": "Q6VN46", "url": "https://www.uniprot.org/uniprotkb/Q6VN46" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q6YLH9-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q6YLH9", "url": "https://www.uniprot.org/uniprotkb/Q6YLH9" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 181, "chemical_mass": 20653.0, "gene_names": "cav1;cav1;wu:fc07c04", "protein_name": "Caveolin", "disease": [ { "disease_id": "DOID:0050440", "name": "familial partial lipodystrophy", "description": "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life.", "url": "https://disease-ontology.org/term/DOID:0050440", "evidence": [ { "id": "0050440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050440" } ], "weight": 0.0 }, { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 }, { "disease_id": "DOID:0111137", "name": "congenital generalized lipodystrophy type 3", "description": "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2.", "url": "https://disease-ontology.org/term/DOID:0111137", "evidence": [ { "id": "0111137", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111137" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.", "url": "https://disease-ontology.org/term/DOID:1070", "evidence": [ { "id": "1070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:12689", "name": "acoustic neuroma", "description": "", "url": "https://disease-ontology.org/term/DOID:12689", "evidence": [ { "id": "12689", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12689" } ], "weight": 0.0 }, { "disease_id": "DOID:127", "name": "leiomyoma", "description": "A cell type benign neoplasm that is a benign tumor of smooth muscle cells.", "url": "https://disease-ontology.org/term/DOID:127", "evidence": [ { "id": "127", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:127" } ], "weight": 0.0 }, { "disease_id": "DOID:14557", "name": "primary pulmonary hypertension", "description": "A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling.", "url": "https://disease-ontology.org/term/DOID:14557", "evidence": [ { "id": "14557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14557" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID:1577", "name": "limited scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1577", "evidence": [ { "id": "1577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1577" } ], "weight": 0.0 }, { "disease_id": "DOID:1580", "name": "diffuse scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1580", "evidence": [ { "id": "1580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1580" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID:4001", "name": "ovarian carcinoma", "description": "An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:4001", "evidence": [ { "id": "4001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4001" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as 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"id": "Q6YLH9", "url": "https://www.uniprot.org/uniprotkb/Q6YLH9" } ], "pmid": "" }, { "name": "regulation of cytosolic calcium ion concentration", "id": "GO:0051480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051480", "evidence": [ { "database": "UniProtKB", "id": "Q6YLH9", "url": "https://www.uniprot.org/uniprotkb/Q6YLH9" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell proliferation", "id": "GO:0001937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001937", "evidence": [ { "database": "UniProtKB", "id": "Q6YLH9", "url": "https://www.uniprot.org/uniprotkb/Q6YLH9" } ], "pmid": "" }, { "name": "regulation of type I interferon-mediated signaling pathway", "id": "GO:0060338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060338", "evidence": [ { "database": "UniProtKB", "id": "Q6YLH9", "url": "https://www.uniprot.org/uniprotkb/Q6YLH9" } ], "pmid": "" }, { "name": "somitogenesis", "id": "GO:0001756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001756", "evidence": [ { "database": "UniProtKB", "id": "Q6YLH9", "url": "https://www.uniprot.org/uniprotkb/Q6YLH9" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "Q6YLH9", "url": "https://www.uniprot.org/uniprotkb/Q6YLH9" } ], "pmid": "" }, { "name": "cardiac muscle cell proliferation", "id": "GO:0060038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060038", "evidence": [ { "database": "UniProtKB", "id": "Q6YLH9", "url": "https://www.uniprot.org/uniprotkb/Q6YLH9" } ], "pmid": "" }, { "name": "regulation of defense response to virus", "id": "GO:0050688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050688", "evidence": [ { "database": "UniProtKB", "id": "Q6YLH9", "url": "https://www.uniprot.org/uniprotkb/Q6YLH9" } ], "pmid": "" }, { "name": "caveola assembly", "id": "GO:0070836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070836", "evidence": [ { 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"UniProtKB", "id": "Q6YLH9", "url": "https://www.uniprot.org/uniprotkb/Q6YLH9" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "Q6YLH9", "url": "https://www.uniprot.org/uniprotkb/Q6YLH9" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "Q6YLH9", "url": "https://www.uniprot.org/uniprotkb/Q6YLH9" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q6YLH9", "url": "https://www.uniprot.org/uniprotkb/Q6YLH9" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q6YLH9", 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}, { "uniprot_canonical_ac": "Q76LC6-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q76LC6", "url": "https://www.uniprot.org/uniprotkb/Q76LC6" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 230, "chemical_mass": 24601.0, "gene_names": "rbm24a;rbm24;rbm24a;rbm24;seb-4", "protein_name": "RNA-binding protein 24", "disease": [ { "disease_id": "DOID:10629", "name": "microphthalmia", "description": "An eye disease where one or both eyeballs are abnormally small.", "url": "https://disease-ontology.org/term/DOID:10629", "evidence": [ { "id": "10629", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10629" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood 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"" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "Q76LC6", "url": "https://www.uniprot.org/uniprotkb/Q76LC6" } ], "pmid": "" }, { "name": "otic vesicle development", "id": "GO:0071599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071599", "evidence": [ { "database": "UniProtKB", "id": "Q76LC6", "url": "https://www.uniprot.org/uniprotkb/Q76LC6" } ], "pmid": "" }, { "name": "mRNA destabilization", "id": "GO:0061157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061157", "evidence": [ { "database": "UniProtKB", "id": "Q76LC6", "url": "https://www.uniprot.org/uniprotkb/Q76LC6" } ], "pmid": "" }, { "name": "positive regulation of stem cell differentiation", "id": "GO:2000738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000738", "evidence": [ { "database": "UniProtKB", "id": "Q76LC6", "url": "https://www.uniprot.org/uniprotkb/Q76LC6" } ], "pmid": "" }, { "name": "skeletal 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"evidence": [ { "database": "UniProtKB", "id": "Q76LC6", "url": "https://www.uniprot.org/uniprotkb/Q76LC6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q76LC6", "url": "https://www.uniprot.org/uniprotkb/Q76LC6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q76LC6", "url": "https://www.uniprot.org/uniprotkb/Q76LC6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q76LC6", "url": "https://www.uniprot.org/uniprotkb/Q76LC6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q7SX99-1", "species": [ { "name": "Danio rerio", "taxid": 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that filter the blood and remove waste products).", "url": "https://disease-ontology.org/term/DOID:4451", "evidence": [ { "id": "4451", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4451" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 } ], "biological_process": [ { "name": "cardiac muscle tissue regeneration", "id": "GO:0061026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061026", "evidence": [ { "database": "UniProtKB", "id": "Q7SXE8", "url": "https://www.uniprot.org/uniprotkb/Q7SXE8" } ], "pmid": "" }, { "name": "regulation of 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elongation by RNA polymerase II", "id": "GO:0006368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006368", "evidence": [ { "database": "UniProtKB", "id": "Q7SXE8", "url": "https://www.uniprot.org/uniprotkb/Q7SXE8" } ], "pmid": "" }, { "name": "regulation of cardiac muscle cell proliferation", "id": "GO:0060043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060043", "evidence": [ { "database": "UniProtKB", "id": "Q7SXE8", "url": "https://www.uniprot.org/uniprotkb/Q7SXE8" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "Q7SXE8", "url": "https://www.uniprot.org/uniprotkb/Q7SXE8" } ], "pmid": "" }, { "name": "inflammatory response to wounding", "id": "GO:0090594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090594", "evidence": [ { "database": "UniProtKB", "id": "Q7SXE8", "url": "https://www.uniprot.org/uniprotkb/Q7SXE8" } ], "pmid": "" }, { "name": "positive regulation of protein localization to chromatin", "id": "GO:0120187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120187", "evidence": [ { "database": "UniProtKB", "id": "Q7SXE8", "url": "https://www.uniprot.org/uniprotkb/Q7SXE8" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q7SXE8", "url": "https://www.uniprot.org/uniprotkb/Q7SXE8" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q7SXE8", "url": "https://www.uniprot.org/uniprotkb/Q7SXE8" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q7SXE8", "url": "https://www.uniprot.org/uniprotkb/Q7SXE8" } ], "pmid": "" }, { "name": "cyclin-dependent protein serine/threonine kinase activity", "id": "GO:0004693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004693", "evidence": [ { "database": "UniProtKB", "id": "Q7SXE8", "url": "https://www.uniprot.org/uniprotkb/Q7SXE8" } ], "pmid": "" }, { "name": "RNA polymerase II CTD heptapeptide repeat kinase activity", "id": "GO:0008353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008353", "evidence": [ { "database": "UniProtKB", "id": "Q7SXE8", "url": "https://www.uniprot.org/uniprotkb/Q7SXE8" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q7SXE8", "url": "https://www.uniprot.org/uniprotkb/Q7SXE8" } ], "pmid": "" }, { "name": "kinase activity", "id": "GO:0016301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301", "evidence": [ { "database": "UniProtKB", "id": "Q7SXE8", "url": "https://www.uniprot.org/uniprotkb/Q7SXE8" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q7SXE8", "url": "https://www.uniprot.org/uniprotkb/Q7SXE8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q7SXE8", "url": "https://www.uniprot.org/uniprotkb/Q7SXE8" } ], "pmid": "" }, { "name": "PML body", "id": "GO:0016605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016605", "evidence": [ { "database": "UniProtKB", "id": "Q7SXE8", "url": "https://www.uniprot.org/uniprotkb/Q7SXE8" } ], "pmid": "" }, { "name": "cyclin-dependent protein kinase holoenzyme complex", "id": "GO:0000307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000307", "evidence": [ { "database": "UniProtKB", "id": "Q7SXE8", "url": "https://www.uniprot.org/uniprotkb/Q7SXE8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q7SXM7-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q7SXM7", "url": "https://www.uniprot.org/uniprotkb/Q7SXM7" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 508, "chemical_mass": 56474.0, "gene_names": "prpf31;prpf31;zgc:66177", "protein_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "disease": [ { "disease_id": "DOID:0110408", "name": "retinitis pigmentosa 11", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF31 gene on chromosome 19q13.", "url": "https://disease-ontology.org/term/DOID:0110408", "evidence": [ { "id": "0110408", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110408" } ], "weight": 0.0 }, { "disease_id": "DOID:10584", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.", "url": "https://disease-ontology.org/term/DOID:10584", "evidence": [ { "id": "10584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10584" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q7SXM7", "url": "https://www.uniprot.org/uniprotkb/Q7SXM7" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q7SXM7", "url": "https://www.uniprot.org/uniprotkb/Q7SXM7" } ], "pmid": "" }, { "name": "Cajal body", "id": "GO:0015030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015030", "evidence": [ { "database": "UniProtKB", "id": "Q7SXM7", "url": "https://www.uniprot.org/uniprotkb/Q7SXM7" } ], "pmid": "" }, { "name": "MLL1 complex", "id": "GO:0071339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071339", "evidence": [ { "database": "UniProtKB", "id": "Q7SXM7", "url": "https://www.uniprot.org/uniprotkb/Q7SXM7" } ], "pmid": "" }, { "name": "precatalytic spliceosome", "id": "GO:0071011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071011", "evidence": [ { "database": "UniProtKB", "id": "Q7SXM7", "url": "https://www.uniprot.org/uniprotkb/Q7SXM7" } ], "pmid": "" }, { "name": "U4 snRNP", "id": "GO:0005687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005687", "evidence": [ { "database": "UniProtKB", "id": "Q7SXM7", "url": "https://www.uniprot.org/uniprotkb/Q7SXM7" } ], "pmid": "" }, { "name": "U4atac snRNP", "id": "GO:0005690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005690", "evidence": [ { "database": "UniProtKB", "id": "Q7SXM7", "url": "https://www.uniprot.org/uniprotkb/Q7SXM7" } ], "pmid": "" }, { "name": "U4/U6 x U5 tri-snRNP complex", "id": "GO:0046540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046540", "evidence": [ { "database": "UniProtKB", "id": "Q7SXM7", "url": "https://www.uniprot.org/uniprotkb/Q7SXM7" } ], "pmid": "" }, { "name": "spliceosomal tri-snRNP complex", "id": "GO:0097526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097526", "evidence": [ { "database": "UniProtKB", "id": "Q7SXM7", "url": "https://www.uniprot.org/uniprotkb/Q7SXM7" } ], "pmid": "" }, { "name": "U2-type precatalytic spliceosome", "id": "GO:0071005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071005", "evidence": [ { "database": "UniProtKB", "id": "Q7SXM7", "url": "https://www.uniprot.org/uniprotkb/Q7SXM7" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "Q7SXM7", "url": "https://www.uniprot.org/uniprotkb/Q7SXM7" } ], "pmid": "" } ], "biological_process": [ { "name": "spliceosomal tri-snRNP complex assembly", "id": "GO:0000244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000244", "evidence": [ { "database": "UniProtKB", "id": "Q7SXM7", "url": "https://www.uniprot.org/uniprotkb/Q7SXM7" } ], "pmid": "" }, { "name": "retina development in camera-type eye", "id": "GO:0060041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060041", "evidence": [ { "database": "UniProtKB", "id": "Q7SXM7", "url": "https://www.uniprot.org/uniprotkb/Q7SXM7" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "Q7SXM7", "url": "https://www.uniprot.org/uniprotkb/Q7SXM7" } ], "pmid": "" }, { "name": "regulation of alternative mRNA splicing, via spliceosome", "id": "GO:0000381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000381", "evidence": [ { "database": "UniProtKB", "id": "Q7SXM7", "url": "https://www.uniprot.org/uniprotkb/Q7SXM7" } ], "pmid": "" } ], "molecular_function": [ { "name": "U4atac snRNA binding", "id": "GO:0030622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030622", "evidence": [ { "database": "UniProtKB", "id": "Q7SXM7", "url": "https://www.uniprot.org/uniprotkb/Q7SXM7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q7SYK7-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q7SYK7", "url": "https://www.uniprot.org/uniprotkb/Q7SYK7" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 428, "chemical_mass": 47587.0, "gene_names": "got2a;got2a;got2;mAspAT;zgc:66329", "protein_name": "Aspartate aminotransferase, mitochondrial", "disease": [ 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"retrograde axonal transport", "id": "GO:0008090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008090", "evidence": [ { "database": "UniProtKB", "id": "Q7T394", "url": "https://www.uniprot.org/uniprotkb/Q7T394" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q7T394", "url": "https://www.uniprot.org/uniprotkb/Q7T394" } ], "pmid": "" }, { "name": "germ cell development", "id": "GO:0007281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007281", "evidence": [ { "database": "UniProtKB", "id": "Q7T394", "url": "https://www.uniprot.org/uniprotkb/Q7T394" } ], "pmid": "" }, { "name": "brain morphogenesis", "id": "GO:0048854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048854", "evidence": [ { "database": "UniProtKB", "id": "Q7T394", "url": "https://www.uniprot.org/uniprotkb/Q7T394" } ], "pmid": "" }, { "name": "establishment of mitotic spindle orientation", "id": 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"Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 200, "chemical_mass": 22458.0, "gene_names": "rab13;cb764;hm:zeh0455;rab13", "protein_name": "Ras-related protein Rab-13", "disease": [ { "disease_id": "DOID:0060247", "name": "Smith-McCort dysplasia", "description": "A Dyggve-Melchior-Clausen disease that is characterized by short limbs and a short trunk with a barrel-shaped chest.", "url": "https://disease-ontology.org/term/DOID:0060247", "evidence": [ { "id": "0060247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060247" } ], "weight": 0.0 }, { "disease_id": "DOID:0111167", "name": "Dyggve-Melchior-Clausen disease", "description": "A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21.", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070830", "evidence": [ { "database": "UniProtKB", "id": "Q7T3A4", "url": "https://www.uniprot.org/uniprotkb/Q7T3A4" } ], "pmid": "" }, { "name": "exocytosis", "id": "GO:0006887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006887", "evidence": [ { "database": "UniProtKB", "id": "Q7T3A4", "url": "https://www.uniprot.org/uniprotkb/Q7T3A4" } ], "pmid": "" }, { "name": "endocytic recycling", "id": "GO:0032456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032456", "evidence": [ { "database": "UniProtKB", "id": "Q7T3A4", "url": "https://www.uniprot.org/uniprotkb/Q7T3A4" } ], "pmid": "" }, { "name": "endothelial cell chemotaxis", "id": "GO:0035767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035767", "evidence": [ { "database": "UniProtKB", "id": "Q7T3A4", "url": "https://www.uniprot.org/uniprotkb/Q7T3A4" } ], "pmid": "" }, { "name": "trans-Golgi network to recycling endosome transport", "id": "GO:0044795", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:1905168", "evidence": [ { "database": "UniProtKB", "id": "Q803C1", "url": "https://www.uniprot.org/uniprotkb/Q803C1" } ], "pmid": "" }, { "name": "sperm DNA condensation", "id": "GO:0035092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035092", "evidence": [ { "database": "UniProtKB", "id": "Q803C1", "url": "https://www.uniprot.org/uniprotkb/Q803C1" } ], "pmid": "" }, { "name": "DNA repair-dependent chromatin remodeling", "id": "GO:0140861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140861", "evidence": [ { "database": "UniProtKB", "id": "Q803C1", "url": "https://www.uniprot.org/uniprotkb/Q803C1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q803C3-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q803C3", "url": "https://www.uniprot.org/uniprotkb/Q803C3" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 428, "chemical_mass": 48980.0, "gene_names": "hdac3;hdac3;zgc:55927", "protein_name": "Histone deacetylase 3", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID:0070227", "name": "intrahepatic cholestasis of pregnancy", "description": "An intrahepatic cholestasis characterized by reversible cholestasis typically occurring in the second or third trimester of pregnancy, elevated serum aminotransferases and bile acid level and resolution of symptoms by 2 to 3 weeks after delivery.", "url": "https://disease-ontology.org/term/DOID:0070227", "evidence": [ 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"https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4001", "name": "ovarian carcinoma", "description": "An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:4001", "evidence": [ { "id": "4001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4001" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q803C3", "url": "https://www.uniprot.org/uniprotkb/Q803C3" } ], "pmid": "" }, { "name": "transcription repressor complex", "id": "GO:0017053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017053", "evidence": [ { "database": "UniProtKB", "id": "Q803C3", "url": "https://www.uniprot.org/uniprotkb/Q803C3" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "Q803C3", "url": "https://www.uniprot.org/uniprotkb/Q803C3" } ], "pmid": "" }, { "name": "histone deacetylase complex", "id": "GO:0000118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000118", "evidence": [ { "database": "UniProtKB", "id": "Q803C3", "url": "https://www.uniprot.org/uniprotkb/Q803C3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q803D2-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q803D2", "url": "https://www.uniprot.org/uniprotkb/Q803D2" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 410, "chemical_mass": 46530.0, "gene_names": "pafah1b1b;Lis1a;lis1a;pafah1b1b", "protein_name": "Lissencephaly-1 homolog B", "disease": [ { "disease_id": "DOID:0050453", "name": "lissencephaly", "description": "A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation.", "url": "https://disease-ontology.org/term/DOID:0050453", "evidence": [ { "id": "0050453", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050453" } ], "weight": 0.0 }, { "disease_id": "DOID:0060469", "name": "Miller-Dieker lissencephaly syndrome", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0008090", "evidence": [ { "database": "UniProtKB", "id": "Q803D2", "url": "https://www.uniprot.org/uniprotkb/Q803D2" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q803D2", "url": "https://www.uniprot.org/uniprotkb/Q803D2" } ], "pmid": "" }, { "name": "photoreceptor cell maintenance", "id": "GO:0045494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045494", "evidence": [ { "database": "UniProtKB", "id": "Q803D2", "url": "https://www.uniprot.org/uniprotkb/Q803D2" } ], "pmid": "" }, { "name": "germ cell development", "id": "GO:0007281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007281", "evidence": [ { "database": "UniProtKB", "id": "Q803D2", "url": "https://www.uniprot.org/uniprotkb/Q803D2" } ], "pmid": "" }, { "name": "brain morphogenesis", "id": "GO:0048854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048854", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "Q803D2", "url": "https://www.uniprot.org/uniprotkb/Q803D2" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q803D2", "url": "https://www.uniprot.org/uniprotkb/Q803D2" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q803D2", "url": "https://www.uniprot.org/uniprotkb/Q803D2" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q803D2", "url": "https://www.uniprot.org/uniprotkb/Q803D2" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q803D2", "url": "https://www.uniprot.org/uniprotkb/Q803D2" } ], "pmid": "" }, { "name": "microtubule associated complex", "id": "GO:0005875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005875", "evidence": [ { "database": "UniProtKB", "id": "Q803D2", "url": "https://www.uniprot.org/uniprotkb/Q803D2" } ], "pmid": "" }, { "name": "kinetochore", "id": "GO:0000776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000776", "evidence": [ { "database": "UniProtKB", "id": "Q803D2", "url": "https://www.uniprot.org/uniprotkb/Q803D2" } ], "pmid": "" }, { "name": "axon cytoplasm", "id": "GO:1904115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904115", "evidence": [ { "database": "UniProtKB", "id": "Q803D2", "url": "https://www.uniprot.org/uniprotkb/Q803D2" } ], "pmid": "" }, { "name": "cytoplasmic microtubule", "id": "GO:0005881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005881", "evidence": [ { "database": "UniProtKB", "id": "Q803D2", "url": "https://www.uniprot.org/uniprotkb/Q803D2" } ], "pmid": "" }, { "name": "1-alkyl-2-acetylglycerophosphocholine esterase complex", "id": "GO:0008247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008247", "evidence": [ { "database": "UniProtKB", "id": "Q803D2", "url": "https://www.uniprot.org/uniprotkb/Q803D2" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q803D2", "url": "https://www.uniprot.org/uniprotkb/Q803D2" } ], "pmid": "" }, { "name": "microtubule plus-end binding", "id": "GO:0051010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051010", "evidence": [ { "database": "UniProtKB", "id": "Q803D2", "url": "https://www.uniprot.org/uniprotkb/Q803D2" } ], "pmid": "" }, { "name": "dynein complex binding", "id": "GO:0070840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070840", "evidence": [ { "database": "UniProtKB", "id": "Q803D2", "url": "https://www.uniprot.org/uniprotkb/Q803D2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q804T6-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q804T6", "url": "https://www.uniprot.org/uniprotkb/Q804T6" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 443, "chemical_mass": 50439.0, "gene_names": "dixdc1a;ccd1;dixdc1a;dixdc1", "protein_name": "Dixin-A", "disease": [], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q804T6", "url": "https://www.uniprot.org/uniprotkb/Q804T6" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q804T6", "url": "https://www.uniprot.org/uniprotkb/Q804T6" } ], "pmid": "" } ], "biological_process": [ { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "Q804T6", "url": "https://www.uniprot.org/uniprotkb/Q804T6" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "Q804T6", "url": "https://www.uniprot.org/uniprotkb/Q804T6" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "Q804T6", "url": "https://www.uniprot.org/uniprotkb/Q804T6" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q804T6", "url": "https://www.uniprot.org/uniprotkb/Q804T6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q8AW52-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q8AW52", "url": "https://www.uniprot.org/uniprotkb/Q8AW52" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 134, "chemical_mass": 15622.0, "gene_names": "atoh7;ath5;atoh7;lak;si:packtrz.1;zath5", "protein_name": "Transcription factor atoh7", "disease": [ { "disease_id": "DOID:0060282", "name": "persistent hyperplastic primary vitreous", "description": "A developmental vitreous disease that is characterized by leukocoria, strabismus and vision loss, caused by failure of primary vitreous and hyaloid vasculature to regress during embryological development.", "url": "https://disease-ontology.org/term/DOID:0060282", "evidence": [ { "id": "0060282", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060282" } ], "weight": 0.0 } ], "biological_process": [ { "name": "neural retina development", "id": "GO:0003407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003407", "evidence": [ { "database": "UniProtKB", "id": "Q8AW52", "url": "https://www.uniprot.org/uniprotkb/Q8AW52" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8AW52", "url": "https://www.uniprot.org/uniprotkb/Q8AW52" } ], "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": "Q8AW52", "url": "https://www.uniprot.org/uniprotkb/Q8AW52" } ], "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": "Q8AW52", "url": "https://www.uniprot.org/uniprotkb/Q8AW52" } ], "pmid": "" }, { "name": "regulation of mitotic cell cycle", "id": "GO:0007346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007346", "evidence": [ { "database": "UniProtKB", "id": "Q8AW52", "url": "https://www.uniprot.org/uniprotkb/Q8AW52" } ], "pmid": "" }, { "name": "retina development in camera-type eye", "id": "GO:0060041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060041", "evidence": [ { "database": "UniProtKB", "id": "Q8AW52", "url": "https://www.uniprot.org/uniprotkb/Q8AW52" } ], "pmid": "" }, { "name": "retina layer formation", "id": "GO:0010842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010842", "evidence": [ { "database": "UniProtKB", "id": "Q8AW52", "url": "https://www.uniprot.org/uniprotkb/Q8AW52" } ], "pmid": "" }, { "name": "swimming behavior", "id": "GO:0036269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036269", "evidence": [ { "database": "UniProtKB", "id": "Q8AW52", "url": "https://www.uniprot.org/uniprotkb/Q8AW52" } ], "pmid": "" }, { "name": "pigmentation", "id": "GO:0043473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043473", "evidence": [ { "database": "UniProtKB", "id": "Q8AW52", "url": "https://www.uniprot.org/uniprotkb/Q8AW52" } ], "pmid": "" }, { "name": "neuron fate commitment", "id": "GO:0048663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048663", "evidence": [ { "database": "UniProtKB", "id": "Q8AW52", "url": "https://www.uniprot.org/uniprotkb/Q8AW52" } ], "pmid": "" }, { "name": "axon development", "id": "GO:0061564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061564", "evidence": [ { "database": "UniProtKB", "id": "Q8AW52", "url": "https://www.uniprot.org/uniprotkb/Q8AW52" } ], "pmid": "" }, { "name": "eye development", "id": "GO:0001654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001654", "evidence": [ { "database": "UniProtKB", "id": "Q8AW52", "url": "https://www.uniprot.org/uniprotkb/Q8AW52" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "Q8AW52", "url": "https://www.uniprot.org/uniprotkb/Q8AW52" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "Q8AW52", "url": "https://www.uniprot.org/uniprotkb/Q8AW52" } ], "pmid": "" }, { "name": "cell fate commitment", "id": "GO:0045165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045165", "evidence": [ { "database": "UniProtKB", "id": "Q8AW52", "url": "https://www.uniprot.org/uniprotkb/Q8AW52" } ], "pmid": "" }, { "name": "positive regulation of neurogenesis", "id": "GO:0050769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050769", "evidence": [ { "database": "UniProtKB", "id": "Q8AW52", "url": "https://www.uniprot.org/uniprotkb/Q8AW52" } ], "pmid": "" }, { "name": "positive regulation of retinal ganglion cell axon guidance", "id": "GO:1902336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902336", "evidence": [ { "database": "UniProtKB", "id": "Q8AW52", "url": "https://www.uniprot.org/uniprotkb/Q8AW52" } ], "pmid": "" }, { "name": "sensory organ development", "id": "GO:0007423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007423", "evidence": [ { "database": "UniProtKB", "id": "Q8AW52", "url": "https://www.uniprot.org/uniprotkb/Q8AW52" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8AW52", "url": "https://www.uniprot.org/uniprotkb/Q8AW52" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q8AW52", "url": "https://www.uniprot.org/uniprotkb/Q8AW52" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q8AW52", "url": "https://www.uniprot.org/uniprotkb/Q8AW52" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "Q8AW52", "url": "https://www.uniprot.org/uniprotkb/Q8AW52" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q8AW52", "url": "https://www.uniprot.org/uniprotkb/Q8AW52" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase 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"uniprot_canonical_ac": "Q8AWD2-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q8AWD2", "url": "https://www.uniprot.org/uniprotkb/Q8AWD2" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 459, "chemical_mass": 50798.0, "gene_names": "mocs3;MOCS3;UBA4;mocs3;uba4;zgc:55696", "protein_name": "Adenylyltransferase and sulfurtransferase MOCS3", "disease": [], "biological_process": [ { "name": "tRNA wobble position uridine thiolation", "id": "GO:0002143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002143", "evidence": [ { "database": "UniProtKB", "id": "Q8AWD2", "url": "https://www.uniprot.org/uniprotkb/Q8AWD2" } ], "pmid": "" }, { "name": "tRNA thio-modification", "id": "GO:0034227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034227", "evidence": [ { "database": "UniProtKB", "id": "Q8AWD2", "url": "https://www.uniprot.org/uniprotkb/Q8AWD2" } ], "pmid": "" }, { "name": "tRNA wobble uridine modification", "id": "GO:0002098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002098", "evidence": [ { "database": "UniProtKB", "id": "Q8AWD2", "url": "https://www.uniprot.org/uniprotkb/Q8AWD2" } ], "pmid": "" }, { "name": "Mo-molybdopterin cofactor biosynthetic process", "id": "GO:0006777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006777", "evidence": [ { "database": "UniProtKB", "id": "Q8AWD2", "url": "https://www.uniprot.org/uniprotkb/Q8AWD2" } ], "pmid": "" }, { "name": "protein urmylation", "id": "GO:0032447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032447", "evidence": [ { "database": "UniProtKB", "id": "Q8AWD2", "url": "https://www.uniprot.org/uniprotkb/Q8AWD2" } ], "pmid": "" } ], "molecular_function": [ { "name": "sulfurtransferase activity", "id": "GO:0016783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016783", "evidence": [ { "database": "UniProtKB", "id": "Q8AWD2", "url": "https://www.uniprot.org/uniprotkb/Q8AWD2" } ], 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"Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 649, "chemical_mass": 70974.0, "gene_names": "hspa8;hsc70", "protein_name": "Heat shock cognate 71 kDa protein", "disease": [ { "disease_id": "DOID:0014667", "name": "disease of metabolism", "description": "A disease that involves errors in metabolic processes of building or degradation of molecules.", "url": "https://disease-ontology.org/term/DOID:0014667", "evidence": [ { "id": "0014667", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0014667" } ], "weight": 0.0 }, { "disease_id": "DOID:0081267", "name": "graft-versus-host disease", "description": "An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32.", "url": "https://disease-ontology.org/term/DOID:0081267", "evidence": [ { "id": "0081267", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081267" } ], "weight": 0.0 }, { "disease_id": "DOID:1073", "name": "renal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1073", "evidence": [ { "id": "1073", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1073" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2378", "name": "relapsing-remitting multiple sclerosis", "description": "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). 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the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 } ], "biological_process": [ { "name": "cranial skeletal system development", "id": "GO:1904888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904888", "evidence": [ { "database": "UniProtKB", "id": "Q90473", "url": "https://www.uniprot.org/uniprotkb/Q90473" } ], "pmid": "" }, { "name": "regulation of fibroblast growth factor receptor signaling pathway", "id": "GO:0040036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040036", "evidence": [ { "database": "UniProtKB", "id": "Q90473", "url": "https://www.uniprot.org/uniprotkb/Q90473" } ], "pmid": "" }, { "name": "embryonic camera-type eye development", "id": "GO:0031076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031076", "evidence": [ { "database": "UniProtKB", "id": "Q90473", "url": "https://www.uniprot.org/uniprotkb/Q90473" } ], "pmid": "" }, { "name": "positive regulation of receptor-mediated endocytosis", "id": "GO:0048260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048260", "evidence": [ { "database": "UniProtKB", "id": "Q90473", "url": "https://www.uniprot.org/uniprotkb/Q90473" } ], "pmid": "" }, { "name": "protein refolding", "id": "GO:0042026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042026", "evidence": [ { "database": "UniProtKB", "id": "Q90473", "url": "https://www.uniprot.org/uniprotkb/Q90473" } ], "pmid": "" }, { "name": "clathrin coat disassembly", "id": "GO:0072318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072318", "evidence": [ { "database": "UniProtKB", "id": "Q90473", "url": "https://www.uniprot.org/uniprotkb/Q90473" } ], "pmid": "" }, { "name": "protein localization to early endosome", "id": "GO:1902946", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902946", "evidence": [ { "database": "UniProtKB", "id": "Q90473", "url": "https://www.uniprot.org/uniprotkb/Q90473" } ], "pmid": "" }, { "name": "protein targeting to lysosome involved in chaperone-mediated autophagy", "id": "GO:0061740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061740", "evidence": [ { "database": "UniProtKB", "id": "Q90473", "url": "https://www.uniprot.org/uniprotkb/Q90473" } ], "pmid": "" }, { "name": "fin regeneration", "id": "GO:0031101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031101", "evidence": [ { "database": "UniProtKB", "id": "Q90473", "url": "https://www.uniprot.org/uniprotkb/Q90473" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q90473", "url": "https://www.uniprot.org/uniprotkb/Q90473" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q90473", "url": "https://www.uniprot.org/uniprotkb/Q90473" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q90473", "url": 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} ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q90473", "url": "https://www.uniprot.org/uniprotkb/Q90473" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q90473", "url": "https://www.uniprot.org/uniprotkb/Q90473" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q90473", "url": "https://www.uniprot.org/uniprotkb/Q90473" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q90473", "url": "https://www.uniprot.org/uniprotkb/Q90473" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q90474-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q90474", "url": "https://www.uniprot.org/uniprotkb/Q90474" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 725, "chemical_mass": 83319.0, "gene_names": "hsp90a.1;hsp90aa1;hsp90a;hsp90;zgc:86652", "protein_name": "Heat shock protein HSP 90-alpha 1", "disease": [ { "disease_id": "DOID:0060001", "name": "withdrawal disorder", "description": "A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol.", "url": "https://disease-ontology.org/term/DOID:0060001", "evidence": [ { "id": "0060001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060001" } ], "weight": 0.0 }, { "disease_id": "DOID:0081292", "name": "traumatic brain injury", "description": "A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head.", "url": "https://disease-ontology.org/term/DOID:0081292", "evidence": [ { "id": "0081292", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081292" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID:12337", "name": "varicocele", "description": "", "url": "https://disease-ontology.org/term/DOID:12337", "evidence": [ { "id": "12337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12337" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:4928", "name": "intrahepatic cholangiocarcinoma", "description": "A cholangiocarcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree.", "url": "https://disease-ontology.org/term/DOID:4928", "evidence": [ { "id": "4928", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4928" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 } ], "biological_process": [ { "name": "skeletal myofibril assembly", "id": "GO:0014866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014866", "evidence": [ { "database": "UniProtKB", "id": "Q90474", "url": "https://www.uniprot.org/uniprotkb/Q90474" } ], "pmid": "" }, { "name": "striated muscle myosin thick filament assembly", "id": "GO:0071688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071688", "evidence": [ { "database": "UniProtKB", "id": "Q90474", "url": "https://www.uniprot.org/uniprotkb/Q90474" } ], "pmid": "" }, { "name": "positive regulation of nitric oxide biosynthetic process", "id": "GO:0045429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045429", "evidence": [ { "database": "UniProtKB", "id": "Q90474", "url": "https://www.uniprot.org/uniprotkb/Q90474" } ], "pmid": "" }, { "name": "cellular response to heat", "id": "GO:0034605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034605", "evidence": [ { "database": "UniProtKB", "id": "Q90474", "url": "https://www.uniprot.org/uniprotkb/Q90474" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "Q90474", "url": "https://www.uniprot.org/uniprotkb/Q90474" } ], "pmid": "" }, { "name": "skeletal muscle thin filament assembly", "id": "GO:0030240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030240", "evidence": [ { "database": "UniProtKB", "id": "Q90474", "url": "https://www.uniprot.org/uniprotkb/Q90474" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q90474", "url": "https://www.uniprot.org/uniprotkb/Q90474" } ], "pmid": "" }, { "name": "leukocyte migration", "id": "GO:0050900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050900", "evidence": [ { "database": 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"id": "Q90477", "url": "https://www.uniprot.org/uniprotkb/Q90477" } ], "pmid": "" }, { "name": "skeletal muscle fiber development", "id": "GO:0048741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048741", "evidence": [ { "database": "UniProtKB", "id": "Q90477", "url": "https://www.uniprot.org/uniprotkb/Q90477" } ], "pmid": "" }, { "name": "skeletal muscle cell differentiation", "id": "GO:0035914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035914", "evidence": [ { "database": "UniProtKB", "id": "Q90477", "url": "https://www.uniprot.org/uniprotkb/Q90477" } ], "pmid": "" }, { "name": "cellular response to estradiol stimulus", "id": "GO:0071392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071392", "evidence": [ { "database": "UniProtKB", "id": "Q90477", "url": "https://www.uniprot.org/uniprotkb/Q90477" } ], "pmid": "" }, { "name": "striated muscle cell development", "id": "GO:0055002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055002", "evidence": [ { "database": 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"name": "DNA-binding transcription activator activity", "id": "GO:0001216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001216", "evidence": [ { "database": "UniProtKB", "id": "Q90477", "url": "https://www.uniprot.org/uniprotkb/Q90477" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q90485-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q90485", "url": "https://www.uniprot.org/uniprotkb/Q90485" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 148, "chemical_mass": 16389.0, "gene_names": "ba2l;ba2;si:dz118j2.1;si:dz118j2.3;zgc:92900", "protein_name": "Hemoglobin subunit beta-2", "disease": [], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009888", "evidence": [ { "database": "UniProtKB", "id": "Q90YL6", "url": "https://www.uniprot.org/uniprotkb/Q90YL6" } ], "pmid": "" }, { "name": "positive regulation of tendon cell differentiation", "id": "GO:2001051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001051", "evidence": [ { "database": "UniProtKB", "id": "Q90YL6", "url": "https://www.uniprot.org/uniprotkb/Q90YL6" } ], "pmid": "" }, { "name": "exocrine pancreas development", "id": "GO:0031017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031017", "evidence": [ { "database": "UniProtKB", "id": "Q90YL6", "url": "https://www.uniprot.org/uniprotkb/Q90YL6" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q90YL6", "url": "https://www.uniprot.org/uniprotkb/Q90YL6" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", 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"sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q90Z00-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q90Z00", "url": "https://www.uniprot.org/uniprotkb/Q90Z00" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 810, "chemical_mass": 91041.0, "gene_names": "fgfr1a;FGFR-1-A;bFGF-R-1-A;cb231;fgfr1a;fgfr1;sb:cb231;si:ch211-198o12.1", "protein_name": "Fibroblast growth factor receptor 1-A", "disease": [ { "disease_id": "DOID:0050852", "name": "limb ischemia", "description": "An ischemia that is characterized by low blood supply to tissues in the limb due to interruption in the arterial blood supply.", "url": "https://disease-ontology.org/term/DOID:0050852", "evidence": [ { "id": "0050852", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050852" } ], "weight": 0.0 }, { "disease_id": "DOID:0060597", "name": "atypical 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"url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear.", "url": "https://disease-ontology.org/term/DOID:10754", "evidence": [ { "id": "10754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:12689", "name": "acoustic neuroma", "description": "", "url": "https://disease-ontology.org/term/DOID:12689", "evidence": [ { "id": "12689", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12689" } ], "weight": 0.0 }, { "disease_id": "DOID:12960", "name": "acrocephalosyndactylia", "description": "A synostosis that results_in craniosynostosis and syndactyly.", "url": "https://disease-ontology.org/term/DOID:12960", "evidence": [ { "id": "12960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12960" } ], "weight": 0.0 }, { "disease_id": "DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.", "url": "https://disease-ontology.org/term/DOID:14705", "evidence": [ { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:403", "name": "mouth disease", "description": "A gastrointestinal system disease that is located_in the mouth.", "url": "https://disease-ontology.org/term/DOID:403", "evidence": [ { "id": "403", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:403" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4783", "name": "mesangial proliferative glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:4783", "evidence": [ { "id": "4783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4783" } ], "weight": 0.0 }, { "disease_id": "DOID:5015", "name": "fibrolamellar carcinoma", "description": "A hepatocellular carcinoma characterized microscopically by laminated fibrous layers interspersed between the tumour cells. The polygonal, deeply eosinophilic tumor cells arise in non-cirrhotic livers.", "url": "https://disease-ontology.org/term/DOID:5015", "evidence": [ { "id": "5015", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5015" } ], "weight": 0.0 }, { "disease_id": "DOID:5327", "name": "retinal detachment", "description": "", "url": "https://disease-ontology.org/term/DOID:5327", "evidence": [ { "id": "5327", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5327" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:8692", "name": "myeloid leukemia", "description": "A leukemia that is located_in myeloid tissue.", "url": "https://disease-ontology.org/term/DOID:8692", "evidence": [ { "id": "8692", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8692" } ], "weight": 0.0 }, { "disease_id": "DOID:8725", "name": "vascular dementia", "description": "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.", "url": "https://disease-ontology.org/term/DOID:8725", "evidence": [ { "id": "8725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9296", "name": "cleft lip", "description": "An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences.", "url": 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The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3457", "name": "invasive lobular carcinoma", "description": "A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated.", "url": "https://disease-ontology.org/term/DOID:3457", "evidence": [ { "id": "3457", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3457" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:3969", "name": "papillary thyroid carcinoma", "description": "A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland.", "url": "https://disease-ontology.org/term/DOID:3969", "evidence": [ { "id": "3969", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3969" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4531", "name": "mucoepidermoid carcinoma", "description": "A carcinoma that is characterized by the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation.", "url": "https://disease-ontology.org/term/DOID:4531", "evidence": [ { "id": "4531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4531" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:687", "name": "hepatoblastoma", "description": "", "url": "https://disease-ontology.org/term/DOID:687", "evidence": [ { "id": "687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:687" } ], "weight": 0.0 }, { "disease_id": "DOID:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in situ that is located_in the uterine cervix.", "url": "https://disease-ontology.org/term/DOID:8991", "evidence": [ { "id": "8991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8991" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9296", "name": "cleft lip", "description": "An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences.", "url": "https://disease-ontology.org/term/DOID:9296", "evidence": [ { "id": "9296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9296" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q91392", "url": "https://www.uniprot.org/uniprotkb/Q91392" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q92008-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q92008", "url": "https://www.uniprot.org/uniprotkb/Q92008" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 418, "chemical_mass": 46403.0, "gene_names": "shha;ShhNC;fc83d08;shha;shh;syu;vhh-1;vhh1;wu:fc83d08", "protein_name": "Sonic hedgehog protein", "disease": [ { "disease_id": "DOID:0050338", "name": "primary bacterial infectious disease", "description": "A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic 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"name": "nevoid basal cell carcinoma syndrome", "description": "A syndrome characterized by multiple early-onset basal cell carcinoma, multiple jaw keratocysts and skeletal abnormalities.", "url": "https://disease-ontology.org/term/DOID:2512", "evidence": [ { "id": "2512", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2512" } ], "weight": 0.0 }, { "disease_id": "DOID:2513", "name": "basal cell carcinoma", "description": "A skin carcinoma affecting basal cells.", "url": "https://disease-ontology.org/term/DOID:2513", "evidence": [ { "id": "2513", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2513" } ], "weight": 0.0 }, { "disease_id": "DOID:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } 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"url": "https://disease-ontology.org/term/DOID:4621", "evidence": [ { "id": "4621", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4621" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:784", "name": "chronic kidney disease", "description": "A kidney failure that is characterized by the gradual loss of kidney function, present for a minimum of 3 months. 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"id": "Q92008", "url": "https://www.uniprot.org/uniprotkb/Q92008" } ], "pmid": "" }, { "name": "floor plate formation", "id": "GO:0021508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021508", "evidence": [ { "database": "UniProtKB", "id": "Q92008", "url": "https://www.uniprot.org/uniprotkb/Q92008" } ], "pmid": "" }, { "name": "spinal cord motor neuron cell fate specification", "id": "GO:0021520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021520", "evidence": [ { "database": "UniProtKB", "id": "Q92008", "url": "https://www.uniprot.org/uniprotkb/Q92008" } ], "pmid": "" }, { "name": "diencephalon development", "id": "GO:0021536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021536", "evidence": [ { "database": "UniProtKB", "id": "Q92008", "url": "https://www.uniprot.org/uniprotkb/Q92008" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "Q92008", "url": "https://www.uniprot.org/uniprotkb/Q92008" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q92008", "url": "https://www.uniprot.org/uniprotkb/Q92008" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q92008", "url": "https://www.uniprot.org/uniprotkb/Q92008" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q92008", "url": "https://www.uniprot.org/uniprotkb/Q92008" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "Q92008", "url": "https://www.uniprot.org/uniprotkb/Q92008" } ], "pmid": "" }, { "name": "blood circulation", "id": "GO:0008015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008015", "evidence": [ { "database": "UniProtKB", "id": "Q92008", "url": "https://www.uniprot.org/uniprotkb/Q92008" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "Q92008", "url": "https://www.uniprot.org/uniprotkb/Q92008" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q92008", "url": "https://www.uniprot.org/uniprotkb/Q92008" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "Q92008", "url": "https://www.uniprot.org/uniprotkb/Q92008" } 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"" }, { "name": "hindbrain development", "id": "GO:0030902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030902", "evidence": [ { "database": "UniProtKB", "id": "Q92008", "url": "https://www.uniprot.org/uniprotkb/Q92008" } ], "pmid": "" }, { "name": "pancreas development", "id": "GO:0031016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031016", "evidence": [ { "database": "UniProtKB", "id": "Q92008", "url": "https://www.uniprot.org/uniprotkb/Q92008" } ], "pmid": "" }, { "name": "embryonic camera-type eye development", "id": "GO:0031076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031076", "evidence": [ { "database": "UniProtKB", "id": "Q92008", "url": "https://www.uniprot.org/uniprotkb/Q92008" } ], "pmid": "" }, { "name": "somitogenesis", "id": "GO:0001756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001756", "evidence": [ { "database": "UniProtKB", "id": "Q92008", "url": "https://www.uniprot.org/uniprotkb/Q92008" } ], "pmid": "" }, { "name": "determination of left/right 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"https://www.ebi.ac.uk/QuickGO/term/GO:0031018", "evidence": [ { "database": "UniProtKB", "id": "Q92008", "url": "https://www.uniprot.org/uniprotkb/Q92008" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "Q92008", "url": "https://www.uniprot.org/uniprotkb/Q92008" } ], "pmid": "" }, { "name": "regulation of BMP signaling pathway", "id": "GO:0030510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030510", "evidence": [ { "database": "UniProtKB", "id": "Q92008", "url": "https://www.uniprot.org/uniprotkb/Q92008" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q92008", "url": "https://www.uniprot.org/uniprotkb/Q92008" } ], "pmid": "" }, { "name": "gliogenesis", "id": "GO:0042063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042063", "evidence": [ { "database": "UniProtKB", "id": "Q92008", "url": "https://www.uniprot.org/uniprotkb/Q92008" } ], "pmid": "" }, { "name": "neuron fate commitment", "id": "GO:0048663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048663", "evidence": [ { "database": "UniProtKB", "id": "Q92008", "url": "https://www.uniprot.org/uniprotkb/Q92008" } ], "pmid": "" }, { "name": "self proteolysis", "id": "GO:0097264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097264", "evidence": [ { "database": "UniProtKB", "id": "Q92008", "url": "https://www.uniprot.org/uniprotkb/Q92008" } ], "pmid": "" }, { "name": "floor plate development", "id": "GO:0033504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033504", "evidence": [ { "database": "UniProtKB", "id": "Q92008", "url": "https://www.uniprot.org/uniprotkb/Q92008" } ], "pmid": "" }, { "name": "eye photoreceptor cell development", "id": "GO:0042462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042462", "evidence": [ { "database": "UniProtKB", "id": "Q92008", "url": "https://www.uniprot.org/uniprotkb/Q92008" } ], "pmid": "" }, { "name": "midbrain-hindbrain boundary development", "id": "GO:0030917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030917", "evidence": [ { "database": "UniProtKB", "id": "Q92008", "url": "https://www.uniprot.org/uniprotkb/Q92008" } ], "pmid": "" }, { "name": "regulation of vascular endothelial growth factor receptor signaling pathway", "id": "GO:0030947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030947", "evidence": [ { "database": "UniProtKB", "id": "Q92008", "url": "https://www.uniprot.org/uniprotkb/Q92008" } ], "pmid": "" }, { "name": "striated muscle cell development", "id": "GO:0055002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055002", "evidence": [ { "database": "UniProtKB", "id": "Q92008", "url": "https://www.uniprot.org/uniprotkb/Q92008" } ], "pmid": "" }, { "name": "cardioblast differentiation", "id": "GO:0010002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010002", 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"evidence": [ { "database": "UniProtKB", "id": "Q92008", "url": "https://www.uniprot.org/uniprotkb/Q92008" } ], "pmid": "" }, { "name": "oligodendrocyte differentiation", "id": "GO:0048709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048709", "evidence": [ { "database": "UniProtKB", "id": "Q92008", "url": "https://www.uniprot.org/uniprotkb/Q92008" } ], "pmid": "" }, { "name": "glial cell differentiation", "id": "GO:0010001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010001", "evidence": [ { "database": "UniProtKB", "id": "Q92008", "url": "https://www.uniprot.org/uniprotkb/Q92008" } ], "pmid": "" }, { "name": "neural plate morphogenesis", "id": "GO:0001839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001839", "evidence": [ { "database": "UniProtKB", "id": "Q92008", "url": "https://www.uniprot.org/uniprotkb/Q92008" } ], "pmid": "" }, { "name": "muscle cell fate specification", "id": "GO:0042694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042694", "evidence": [ { 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The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0060850", "name": "annular pancreas", "description": "A pancreas disease characterized by autosomal dominant inheritance of the annular pancreas (head of the pancreas forming a ring around the second portion of the duodenum) and duodenal stenosis.", "url": "https://disease-ontology.org/term/DOID:0060850", "evidence": [ { "id": "0060850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060850" } ], "weight": 0.0 }, { "disease_id": "DOID:0110964", "name": "brachydactyly type A1", "description": "A brachydactyly characterized by rudimentary or fused middle phalanges of all the 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"https://www.uniprot.org/uniprotkb/Q98862" } ], "pmid": "" }, { "name": "positive regulation of smoothened signaling pathway", "id": "GO:0045880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045880", "evidence": [ { "database": "UniProtKB", "id": "Q98862", "url": "https://www.uniprot.org/uniprotkb/Q98862" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "Q98862", "url": "https://www.uniprot.org/uniprotkb/Q98862" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q98862", "url": "https://www.uniprot.org/uniprotkb/Q98862" } ], "pmid": "" }, { "name": "protein autoprocessing", "id": "GO:0016540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016540", "evidence": [ { "database": "UniProtKB", "id": "Q98862", "url": "https://www.uniprot.org/uniprotkb/Q98862" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "Q98862", "url": "https://www.uniprot.org/uniprotkb/Q98862" } ], "pmid": "" }, { "name": "self proteolysis", "id": "GO:0097264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097264", "evidence": [ { "database": "UniProtKB", "id": "Q98862", "url": "https://www.uniprot.org/uniprotkb/Q98862" } ], "pmid": "" }, { "name": "striated muscle cell development", "id": "GO:0055002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055002", "evidence": [ { "database": "UniProtKB", "id": "Q98862", "url": "https://www.uniprot.org/uniprotkb/Q98862" } ], "pmid": "" }, { "name": "oligodendrocyte differentiation", "id": "GO:0048709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048709", "evidence": [ { "database": "UniProtKB", "id": "Q98862", "url": "https://www.uniprot.org/uniprotkb/Q98862" } ], "pmid": "" }, { "name": "regulation of oligodendrocyte progenitor proliferation", "id": "GO:0070445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070445", "evidence": [ { "database": "UniProtKB", "id": "Q98862", "url": "https://www.uniprot.org/uniprotkb/Q98862" } ], "pmid": "" }, { "name": "intein-mediated protein splicing", "id": "GO:0016539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016539", "evidence": [ { "database": "UniProtKB", "id": "Q98862", "url": "https://www.uniprot.org/uniprotkb/Q98862" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q98862", "url": "https://www.uniprot.org/uniprotkb/Q98862" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q98862", "url": "https://www.uniprot.org/uniprotkb/Q98862" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q98862", "url": "https://www.uniprot.org/uniprotkb/Q98862" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q98862", "url": "https://www.uniprot.org/uniprotkb/Q98862" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q98862", "url": "https://www.uniprot.org/uniprotkb/Q98862" } ], "pmid": "" }, { "name": "peptidase activity", "id": "GO:0008233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008233", "evidence": [ { "database": "UniProtKB", "id": "Q98862", "url": "https://www.uniprot.org/uniprotkb/Q98862" } ], "pmid": "" }, { "name": "patched binding", "id": "GO:0005113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005113", "evidence": [ { "database": "UniProtKB", "id": "Q98862", "url": "https://www.uniprot.org/uniprotkb/Q98862" } ], "pmid": "" }, { "name": "very-low-density lipoprotein particle binding", "id": "GO:0034189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034189", "evidence": [ { "database": "UniProtKB", "id": "Q98862", "url": "https://www.uniprot.org/uniprotkb/Q98862" } ], "pmid": "" }, { "name": "cholesterol-protein transferase activity", "id": "GO:0140853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140853", "evidence": [ { "database": "UniProtKB", "id": "Q98862", "url": "https://www.uniprot.org/uniprotkb/Q98862" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q98878-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q98878", "url": "https://www.uniprot.org/uniprotkb/Q98878" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 254, "chemical_mass": 28183.0, "gene_names": "dlx4b;dlx4b;dlx7;fj03c01;wu:fj03c01;zgc:109858", "protein_name": "Homeobox protein Dlx4b", "disease": [ { "disease_id": "DOID:0080408", "name": "orofacial cleft 15", "description": "An orofacial cleft that has_material_basis_in mutation in the DLX4 gene on chromosome 17q21.", "url": "https://disease-ontology.org/term/DOID:0080408", "evidence": [ { "id": "0080408", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080408" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q98878", "url": "https://www.uniprot.org/uniprotkb/Q98878" } ], "pmid": "" } ], "biological_process": [ { "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": "Q98878", "url": "https://www.uniprot.org/uniprotkb/Q98878" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q98878", "url": "https://www.uniprot.org/uniprotkb/Q98878" } ], "pmid": "" }, { "name": "trigeminal nerve development", "id": "GO:0021559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021559", "evidence": [ { "database": "UniProtKB", "id": "Q98878", "url": "https://www.uniprot.org/uniprotkb/Q98878" } ], "pmid": "" }, { "name": "inner ear receptor cell development", "id": "GO:0060119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060119", "evidence": [ { "database": "UniProtKB", "id": "Q98878", "url": "https://www.uniprot.org/uniprotkb/Q98878" } ], "pmid": "" }, { "name": "neuron development", "id": "GO:0048666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048666", "evidence": [ { "database": "UniProtKB", "id": "Q98878", "url": "https://www.uniprot.org/uniprotkb/Q98878" } ], "pmid": "" }, { "name": "endocrine system development", "id": "GO:0035270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035270", "evidence": [ { "database": "UniProtKB", "id": "Q98878", "url": "https://www.uniprot.org/uniprotkb/Q98878" } ], "pmid": "" }, { "name": "auditory receptor cell fate specification", "id": "GO:0042667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042667", "evidence": [ { "database": "UniProtKB", "id": "Q98878", "url": "https://www.uniprot.org/uniprotkb/Q98878" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "Q98878", "url": "https://www.uniprot.org/uniprotkb/Q98878" } ], "pmid": "" }, { "name": "embryonic viscerocranium morphogenesis", "id": "GO:0048703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048703", "evidence": [ { "database": "UniProtKB", "id": "Q98878", "url": "https://www.uniprot.org/uniprotkb/Q98878" } ], "pmid": "" }, { "name": "olfactory placode formation", "id": "GO:0030910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030910", "evidence": [ { "database": "UniProtKB", "id": "Q98878", "url": "https://www.uniprot.org/uniprotkb/Q98878" } ], "pmid": "" }, { "name": "embryonic skeletal system development", "id": "GO:0048706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048706", "evidence": [ { "database": "UniProtKB", "id": "Q98878", "url": "https://www.uniprot.org/uniprotkb/Q98878" } ], "pmid": "" }, { "name": "otic vesicle formation", "id": "GO:0030916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030916", "evidence": [ { "database": "UniProtKB", "id": "Q98878", "url": "https://www.uniprot.org/uniprotkb/Q98878" } ], "pmid": "" }, { "name": "lens fiber cell differentiation", "id": "GO:0070306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070306", "evidence": [ { "database": "UniProtKB", "id": "Q98878", "url": "https://www.uniprot.org/uniprotkb/Q98878" } ], "pmid": "" }, { "name": "otic vesicle morphogenesis", "id": "GO:0071600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071600", "evidence": [ { "database": "UniProtKB", "id": "Q98878", "url": "https://www.uniprot.org/uniprotkb/Q98878" } ], "pmid": "" }, { "name": "otic placode formation", "id": "GO:0043049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043049", "evidence": [ { "database": "UniProtKB", "id": "Q98878", "url": "https://www.uniprot.org/uniprotkb/Q98878" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q98878", "url": "https://www.uniprot.org/uniprotkb/Q98878" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q98878", "url": "https://www.uniprot.org/uniprotkb/Q98878" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q98880-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q98880", "url": "https://www.uniprot.org/uniprotkb/Q98880" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 456, "chemical_mass": 52100.0, "gene_names": "chrna1;chrna1;nic1;zgc:86593", "protein_name": "Acetylcholine receptor subunit alpha", "disease": [ { "disease_id": "DOID:0110662", "name": "congenital myasthenic syndrome 1B", "description": "A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q.", "url": "https://disease-ontology.org/term/DOID:0110662", "evidence": [ { "id": "0110662", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110662" } ], "weight": 0.0 }, { "disease_id": "DOID:0110663", "name": "congenital myasthenic syndrome 1A", "description": "A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q.", "url": "https://disease-ontology.org/term/DOID:0110663", "evidence": [ { "id": "0110663", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110663" } ], "weight": 0.0 }, { "disease_id": "DOID:3635", "name": 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"UniProtKB", "id": "Q98880", "url": "https://www.uniprot.org/uniprotkb/Q98880" } ], "pmid": "" }, { "name": "membrane depolarization", "id": "GO:0051899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051899", "evidence": [ { "database": "UniProtKB", "id": "Q98880", "url": "https://www.uniprot.org/uniprotkb/Q98880" } ], "pmid": "" }, { "name": "skeletal muscle fiber development", "id": "GO:0048741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048741", "evidence": [ { "database": "UniProtKB", "id": "Q98880", "url": "https://www.uniprot.org/uniprotkb/Q98880" } ], "pmid": "" }, { "name": "regulation of axon extension", "id": "GO:0030516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030516", "evidence": [ { "database": "UniProtKB", "id": "Q98880", "url": "https://www.uniprot.org/uniprotkb/Q98880" } ], "pmid": "" }, { "name": "skeletal system morphogenesis", "id": "GO:0048705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048705", "evidence": [ { "database": "UniProtKB", "id": "Q98880", "url": "https://www.uniprot.org/uniprotkb/Q98880" } ], "pmid": "" }, { "name": "receptor clustering", "id": "GO:0043113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043113", "evidence": [ { "database": "UniProtKB", "id": "Q98880", "url": "https://www.uniprot.org/uniprotkb/Q98880" } ], "pmid": "" }, { "name": "membrane repolarization", "id": "GO:0086009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086009", "evidence": [ { "database": "UniProtKB", "id": "Q98880", "url": "https://www.uniprot.org/uniprotkb/Q98880" } ], "pmid": "" }, { "name": "motor neuron axon guidance", "id": "GO:0008045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008045", "evidence": [ { "database": "UniProtKB", "id": "Q98880", "url": "https://www.uniprot.org/uniprotkb/Q98880" } ], "pmid": "" }, { "name": "presynaptic modulation of chemical synaptic transmission", "id": "GO:0099171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099171", "evidence": [ { "database": "UniProtKB", "id": "Q98880", 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061656", "evidence": [ { "database": "UniProtKB", "id": "Q9DDJ0", "url": "https://www.uniprot.org/uniprotkb/Q9DDJ0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9DDJ0", "url": "https://www.uniprot.org/uniprotkb/Q9DDJ0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q9DDK4-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q9DDK4", "url": "https://www.uniprot.org/uniprotkb/Q9DDK4" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 362, "chemical_mass": 40601.0, "gene_names": "s1pr1;edg1;etID43307.22;s1p1;s1pr1;wu:fb98f05", "protein_name": "Sphingosine 1-phosphate receptor 1", "disease": [ 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"uniprot_canonical_ac": "Q9DDK4-1", "start_pos": "10", "end_pos": "10", "site_lbl": "Asn10", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 10, "start_aa": "Asn", "end_pos": 10, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn10", "evidence": [ { "id": "Q9DDK4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9DDK4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9DDK4-1", "start_pos": "169", "end_pos": "169", "site_lbl": "Asn169", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) 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"https://disease-ontology.org/term/DOID:0080608", "evidence": [ { "id": "0080608", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080608" } ], "weight": 0.0 }, { "disease_id": "DOID:0110122", "name": "Axenfeld-Rieger syndrome type 3", "description": "An Axenfeld-Rieger characterized by an anteriorly displaced Schwalbe line, the presence of another ocular anomaly (hypoplasia of iris stroma, corectopia, or iridocorneal adhesions), and nonocular anomalies including maxillary hypoplasia, hypodontia, microdontia, protuberant periumbilical skin, sensorineural hearing loss, and congenital cardiac or renal anomalies syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25.", "url": "https://disease-ontology.org/term/DOID:0110122", "evidence": [ { "id": "0110122", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110122" } ], "weight": 0.0 }, { "disease_id": "DOID:11211", "name": "buphthalmos", "description": 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"url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 } ], "biological_process": [ { "name": "embryonic retina morphogenesis in camera-type eye", "id": "GO:0060059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060059", "evidence": [ { "database": "UniProtKB", "id": "Q9DE24", "url": "https://www.uniprot.org/uniprotkb/Q9DE24" } ], "pmid": "" }, { "name": "cerebellum vasculature development", "id": "GO:0061300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061300", "evidence": [ { "database": "UniProtKB", "id": "Q9DE24", "url": "https://www.uniprot.org/uniprotkb/Q9DE24" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9DE24", "url": "https://www.uniprot.org/uniprotkb/Q9DE24" } ], "pmid": "" }, { "name": "regulation of 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permeability", "id": "GO:0043114", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043114", "evidence": [ { "database": "UniProtKB", "id": "Q9DE24", "url": "https://www.uniprot.org/uniprotkb/Q9DE24" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "Q9DE24", "url": "https://www.uniprot.org/uniprotkb/Q9DE24" } ], "pmid": "" }, { "name": "vasculature development", "id": "GO:0001944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001944", "evidence": [ { "database": "UniProtKB", "id": "Q9DE24", "url": "https://www.uniprot.org/uniprotkb/Q9DE24" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "Q9DE24", "url": "https://www.uniprot.org/uniprotkb/Q9DE24" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "Q9DE24", "url": "https://www.uniprot.org/uniprotkb/Q9DE24" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "Q9DE24", "url": "https://www.uniprot.org/uniprotkb/Q9DE24" } ], "pmid": "" }, { "name": "determination of pancreatic left/right asymmetry", "id": "GO:0035469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035469", "evidence": [ { "database": "UniProtKB", "id": "Q9DE24", "url": "https://www.uniprot.org/uniprotkb/Q9DE24" } ], "pmid": "" }, { "name": "determination of heart left/right asymmetry", "id": "GO:0061371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061371", "evidence": [ { "database": "UniProtKB", "id": "Q9DE24", "url": "https://www.uniprot.org/uniprotkb/Q9DE24" } ], "pmid": "" }, { "name": "determination of liver 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"https://www.alliancegenome.org/disease/DOID:0110122" } ], "weight": 0.0 }, { "disease_id": "DOID:11211", "name": "buphthalmos", "description": "A hydrophthalmos characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure, increased corneal diameter, and swelling of the globe and has_symptom early vision loss, photophobia, blepharospasm, tearing, increased corneal diameter, increased corneal thickness, and enlarged globe. Buphthalmos is caused by severe congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss.", "url": "https://disease-ontology.org/term/DOID:11211", "evidence": [ { "id": "11211", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11211" } ], "weight": 0.0 }, { "disease_id": "DOID:14686", "name": "Axenfeld-Rieger syndrome", "description": "An eye disease characterized by anterior segment ocular dysgenesis in addition to systemic abnormalities such as dental, cardiac, craniofacial, and abdominal wall defects.", "url": "https://disease-ontology.org/term/DOID:14686", "evidence": [ { "id": "14686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14686" } ], "weight": 0.0 }, { "disease_id": "DOID:1686", "name": "glaucoma", "description": "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.", "url": "https://disease-ontology.org/term/DOID:1686", "evidence": [ { "id": "1686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1686" } ], "weight": 0.0 }, { "disease_id": "DOID:3008", "name": "invasive ductal carcinoma", "description": "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated.", "url": "https://disease-ontology.org/term/DOID:3008", "evidence": [ { "id": "3008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3008" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 } ], "biological_process": [ { "name": "embryonic retina morphogenesis in camera-type eye", "id": "GO:0060059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060059", "evidence": [ { "database": "UniProtKB", "id": "Q9DE25", "url": "https://www.uniprot.org/uniprotkb/Q9DE25" } ], "pmid": "" }, { "name": "regulation of fibroblast growth factor receptor signaling pathway", "id": "GO:0040036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040036", "evidence": [ { "database": "UniProtKB", "id": "Q9DE25", "url": "https://www.uniprot.org/uniprotkb/Q9DE25" } ], "pmid": "" }, { "name": "cerebellum vasculature development", "id": "GO:0061300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061300", "evidence": [ { "database": "UniProtKB", "id": "Q9DE25", "url": "https://www.uniprot.org/uniprotkb/Q9DE25" } ], "pmid": "" }, { "name": "closure of optic fissure", "id": "GO:0061386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061386", "evidence": [ { "database": "UniProtKB", "id": "Q9DE25", "url": "https://www.uniprot.org/uniprotkb/Q9DE25" } ], "pmid": "" }, { "name": "vascular associated smooth muscle cell differentiation", "id": "GO:0035886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035886", "evidence": [ { "database": "UniProtKB", "id": "Q9DE25", "url": "https://www.uniprot.org/uniprotkb/Q9DE25" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9DE25", "url": "https://www.uniprot.org/uniprotkb/Q9DE25" } ], "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": "Q9DE25", "url": "https://www.uniprot.org/uniprotkb/Q9DE25" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q9DE25", "url": "https://www.uniprot.org/uniprotkb/Q9DE25" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q9DE25", "url": "https://www.uniprot.org/uniprotkb/Q9DE25" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "Q9DE25", "url": "https://www.uniprot.org/uniprotkb/Q9DE25" } ], "pmid": "" }, { "name": "neural crest cell migration", "id": "GO:0001755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001755", "evidence": [ { "database": "UniProtKB", "id": "Q9DE25", "url": "https://www.uniprot.org/uniprotkb/Q9DE25" } ], "pmid": "" }, { "name": "regulation of vascular permeability", "id": "GO:0043114", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043114", "evidence": [ { "database": "UniProtKB", "id": "Q9DE25", "url": "https://www.uniprot.org/uniprotkb/Q9DE25" } ], "pmid": "" }, { "name": "somitogenesis", "id": "GO:0001756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001756", "evidence": [ { "database": "UniProtKB", "id": "Q9DE25", "url": "https://www.uniprot.org/uniprotkb/Q9DE25" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "Q9DE25", "url": "https://www.uniprot.org/uniprotkb/Q9DE25" } ], "pmid": "" }, { "name": "vasculature development", "id": "GO:0001944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001944", "evidence": [ { "database": "UniProtKB", "id": "Q9DE25", "url": "https://www.uniprot.org/uniprotkb/Q9DE25" } ], "pmid": "" }, { "name": "adrenal gland development", "id": "GO:0030325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030325", "evidence": [ { "database": "UniProtKB", "id": "Q9DE25", "url": "https://www.uniprot.org/uniprotkb/Q9DE25" } ], "pmid": "" }, { "name": "regulation of bone mineralization", "id": "GO:0030500", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030500", "evidence": [ { "database": "UniProtKB", "id": "Q9DE25", "url": "https://www.uniprot.org/uniprotkb/Q9DE25" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "Q9DE25", "url": "https://www.uniprot.org/uniprotkb/Q9DE25" } ], "pmid": "" }, { "name": "motor neuron axon guidance", "id": "GO:0008045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008045", "evidence": [ { "database": "UniProtKB", "id": "Q9DE25", "url": "https://www.uniprot.org/uniprotkb/Q9DE25" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "Q9DE25", "url": "https://www.uniprot.org/uniprotkb/Q9DE25" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "Q9DE25", "url": "https://www.uniprot.org/uniprotkb/Q9DE25" } ], "pmid": "" }, { "name": "podocyte development", "id": "GO:0072015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072015", "evidence": [ { "database": "UniProtKB", "id": "Q9DE25", "url": "https://www.uniprot.org/uniprotkb/Q9DE25" } ], "pmid": "" }, { "name": "determination of pancreatic left/right asymmetry", "id": "GO:0035469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035469", "evidence": [ { "database": "UniProtKB", "id": "Q9DE25", "url": "https://www.uniprot.org/uniprotkb/Q9DE25" } ], "pmid": "" }, { "name": "determination of heart left/right asymmetry", "id": "GO:0061371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061371", "evidence": [ { "database": "UniProtKB", "id": "Q9DE25", "url": "https://www.uniprot.org/uniprotkb/Q9DE25" } ], "pmid": "" }, { "name": "determination of liver left/right asymmetry", "id": "GO:0071910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071910", "evidence": [ { "database": "UniProtKB", "id": "Q9DE25", "url": "https://www.uniprot.org/uniprotkb/Q9DE25" } ], "pmid": "" }, { "name": "negative regulation of retinoic acid receptor signaling pathway", "id": "GO:0048387", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048387", "evidence": [ { "database": "UniProtKB", "id": "Q9DE25", "url": "https://www.uniprot.org/uniprotkb/Q9DE25" } ], "pmid": "" }, { "name": "regulation of Notch signaling pathway", "id": "GO:0008593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008593", "evidence": [ { "database": "UniProtKB", "id": "Q9DE25", "url": "https://www.uniprot.org/uniprotkb/Q9DE25" } ], "pmid": "" }, { "name": "regulation of platelet-derived growth factor receptor-alpha signaling pathway", "id": "GO:2000583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000583", "evidence": [ { "database": "UniProtKB", "id": "Q9DE25", "url": "https://www.uniprot.org/uniprotkb/Q9DE25" } ], "pmid": "" }, { "name": "pectoral fin development", "id": "GO:0033339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033339", "evidence": [ { "database": "UniProtKB", "id": "Q9DE25", "url": "https://www.uniprot.org/uniprotkb/Q9DE25" } ], "pmid": "" }, { "name": "pronephric glomerulus development", "id": "GO:0039021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0039021", "evidence": [ { "database": "UniProtKB", "id": "Q9DE25", "url": "https://www.uniprot.org/uniprotkb/Q9DE25" } ], "pmid": "" }, { "name": "podocyte cell fate commitment", "id": "GO:0072149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072149", "evidence": [ { "database": "UniProtKB", "id": "Q9DE25", "url": "https://www.uniprot.org/uniprotkb/Q9DE25" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q9DE25", "url": "https://www.uniprot.org/uniprotkb/Q9DE25" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q9DE25", "url": "https://www.uniprot.org/uniprotkb/Q9DE25" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q9DE25", "url": "https://www.uniprot.org/uniprotkb/Q9DE25" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9DE25", "url": "https://www.uniprot.org/uniprotkb/Q9DE25" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q9DE49-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q9DE49", "url": "https://www.uniprot.org/uniprotkb/Q9DE49" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 1059, "chemical_mass": 118211.0, "gene_names": "pdgfra;etID309717.20;pdgfr-a;pdgfra;wu:fc27f02;wu:fv91b12", "protein_name": "Platelet-derived growth factor receptor alpha", "disease": [ { "disease_id": "DOID:0050902", "name": "medulloblastoma", "description": "An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor.", "url": "https://disease-ontology.org/term/DOID:0050902", "evidence": [ { "id": "0050902", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050902" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:12215", "name": "oligohydramnios", "description": "A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion.", "url": "https://disease-ontology.org/term/DOID:12215", "evidence": [ { "id": "12215", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12215" } ], "weight": 0.0 }, { "disease_id": "DOID:1240", "name": "leukemia", "description": "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.", "url": "https://disease-ontology.org/term/DOID:1240", "evidence": [ { "id": "1240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1240" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:2526", "name": "prostate adenocarcinoma", "description": "A prostate carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:2526", "evidence": [ { "id": "2526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2526" } ], "weight": 0.0 }, { "disease_id": "DOID:2696", "name": "Leydig cell tumor", "description": "A sex cord-gonadal stromal tumor that secretes testosterone characterized by excessive proliferation of Leydig cells located_in ovary or testicle.", "url": "https://disease-ontology.org/term/DOID:2696", "evidence": [ { "id": "2696", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2696" } ], "weight": 0.0 }, { "disease_id": "DOID:305", "name": "carcinoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:305", "evidence": [ { "id": "305", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:305" } ], "weight": 0.0 }, { "disease_id": "DOID:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:3827", "name": "congenital diaphragmatic hernia", "description": "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs.", "url": "https://disease-ontology.org/term/DOID:3827", "evidence": [ { "id": "3827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3827" } ], "weight": 0.0 }, { "disease_id": "DOID:3840", "name": "craniopharyngioma", "description": "", "url": "https://disease-ontology.org/term/DOID:3840", "evidence": [ { "id": "3840", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3840" } ], "weight": 0.0 }, { "disease_id": "DOID:4202", "name": "brain stem glioma", "description": "A brain stem cancer that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells, derives_from glial cells.", "url": "https://disease-ontology.org/term/DOID:4202", "evidence": [ { "id": "4202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4202" } ], "weight": 0.0 }, { "disease_id": "DOID:4297", "name": "scimitar syndrome", "description": "A congenital heart disease that is characterized by partial or entire anomalous curved venous drainage of the right lung to the inferior vena cava, association with variable right lung and pulmonary artery hypoplasia, dextraposition of the heart and an anomalous systemic blood supply to the ipsilateral lung.", "url": "https://disease-ontology.org/term/DOID:4297", "evidence": [ { "id": "4297", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4297" } ], "weight": 0.0 }, { "disease_id": "DOID:4440", "name": "seminoma", "description": "A germinoma that has_material_basis_in cells that make sperm and eggs.", "url": "https://disease-ontology.org/term/DOID:4440", "evidence": [ { "id": "4440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4440" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:5603", "name": "T-cell acute lymphoblastic leukemia", "description": "An acute lymphoblastic leukemia that is characterized by too many T-cell lymphoblasts found in the bone 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], "pmid": "" }, { "name": "morphogenesis of an epithelium", "id": "GO:0002009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002009", "evidence": [ { "database": "UniProtKB", "id": "Q9DFH2", "url": "https://www.uniprot.org/uniprotkb/Q9DFH2" } ], "pmid": "" }, { "name": "oligodendrocyte differentiation", "id": "GO:0048709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048709", "evidence": [ { "database": "UniProtKB", "id": "Q9DFH2", "url": "https://www.uniprot.org/uniprotkb/Q9DFH2" } ], "pmid": "" }, { "name": "otic vesicle formation", "id": "GO:0030916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030916", "evidence": [ { "database": "UniProtKB", "id": "Q9DFH2", "url": "https://www.uniprot.org/uniprotkb/Q9DFH2" } ], "pmid": "" }, { "name": "otic placode formation", "id": "GO:0043049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043049", "evidence": [ { "database": "UniProtKB", "id": "Q9DFH2", "url": "https://www.uniprot.org/uniprotkb/Q9DFH2" } ], "pmid": "" }, { "name": "pectoral fin development", "id": "GO:0033339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033339", "evidence": [ { "database": "UniProtKB", "id": "Q9DFH2", "url": "https://www.uniprot.org/uniprotkb/Q9DFH2" } ], "pmid": "" }, { "name": "embryonic pectoral fin morphogenesis", "id": "GO:0035118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035118", "evidence": [ { "database": "UniProtKB", "id": "Q9DFH2", "url": "https://www.uniprot.org/uniprotkb/Q9DFH2" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q9DFH2", "url": "https://www.uniprot.org/uniprotkb/Q9DFH2" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q9DFH2", "url": "https://www.uniprot.org/uniprotkb/Q9DFH2" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q9DFH2", "url": "https://www.uniprot.org/uniprotkb/Q9DFH2" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q9DFH2", "url": "https://www.uniprot.org/uniprotkb/Q9DFH2" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9DFH2", "url": "https://www.uniprot.org/uniprotkb/Q9DFH2" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9DFH2", "url": "https://www.uniprot.org/uniprotkb/Q9DFH2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q9DFS6-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q9DFS6", "url": "https://www.uniprot.org/uniprotkb/Q9DFS6" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 215, "chemical_mass": 24850.0, "gene_names": "eif4ea;eif4e-1;eif4e1a;eif4ea;eif4e;zgc:86680", "protein_name": "Eukaryotic translation initiation factor 4E-1A", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:12849", "evidence": [ { "id": "12849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12849" } ], "weight": 0.0 }, { "disease_id": "DOID:1508", "name": "candidiasis", "description": "An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons.", "url": "https://disease-ontology.org/term/DOID:1508", "evidence": [ { "id": "1508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1508" } ], "weight": 0.0 }, { "disease_id": "DOID:8725", "name": "vascular dementia", "description": "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.", "url": "https://disease-ontology.org/term/DOID:8725", "evidence": [ { "id": "8725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9DFS6", "url": "https://www.uniprot.org/uniprotkb/Q9DFS6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9DFS6", "url": "https://www.uniprot.org/uniprotkb/Q9DFS6" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q9DFS6", "url": "https://www.uniprot.org/uniprotkb/Q9DFS6" } ], "pmid": "" }, { "name": "eukaryotic translation initiation factor 4F complex", "id": "GO:0016281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016281", "evidence": [ { "database": "UniProtKB", "id": "Q9DFS6", "url": "https://www.uniprot.org/uniprotkb/Q9DFS6" } ], "pmid": "" } ], "biological_process": [ { "name": "mRNA export from nucleus", "id": "GO:0006406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006406", "evidence": [ { "database": "UniProtKB", "id": "Q9DFS6", "url": "https://www.uniprot.org/uniprotkb/Q9DFS6" } ], "pmid": "" }, { "name": "regulation of translation", "id": "GO:0006417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006417", "evidence": [ { "database": "UniProtKB", "id": "Q9DFS6", "url": "https://www.uniprot.org/uniprotkb/Q9DFS6" } ], "pmid": "" }, { "name": "translational initiation", "id": "GO:0006413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006413", "evidence": [ { "database": "UniProtKB", "id": "Q9DFS6", "url": "https://www.uniprot.org/uniprotkb/Q9DFS6" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA 7-methylguanosine cap binding", "id": "GO:0000340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000340", "evidence": [ { "database": "UniProtKB", "id": "Q9DFS6", "url": "https://www.uniprot.org/uniprotkb/Q9DFS6" } ], "pmid": "" }, { "name": "translation initiation factor activity", "id": "GO:0003743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003743", "evidence": [ { "database": "UniProtKB", "id": "Q9DFS6", "url": "https://www.uniprot.org/uniprotkb/Q9DFS6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q9DGD9-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q9DGD9", "url": "https://www.uniprot.org/uniprotkb/Q9DGD9" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 384, "chemical_mass": 44140.0, "gene_names": "mapk8;JNK1;JNK;jnk1a-1;jnk1b;jnk1;mapk8b;mapk8;zgc:112379", "protein_name": "Mitogen-activated protein kinase 8", "disease": [ { "disease_id": "DOID:0050860", "name": "colorectal adenoma", "description": "An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum.", "url": "https://disease-ontology.org/term/DOID:0050860", "evidence": [ { "id": "0050860", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050860" } ], "weight": 0.0 }, { "disease_id": "DOID:0050861", "name": "colorectal adenocarcinoma", "description": "A colorectal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:0050861", "evidence": [ { "id": "0050861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050861" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture.", "url": "https://disease-ontology.org/term/DOID:0080855", "evidence": [ { "id": "0080855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080855" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1984", "name": "rectal benign neoplasm", "description": "An intestinal benign neoplasm located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:1984", "evidence": [ { "id": "1984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1984" } ], "weight": 0.0 }, { "disease_id": "DOID:2058", "name": "chronic mucocutaneous candidiasis", "description": "A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located_in skin, located_in mucous membrane, or located_in nail due to T-cell defects, has-agent Candida species and has_symptom scaling of skin lesions, has_symptom thickening of nails, has_symptom swollen periungal tissue, and has_symptom scarring of the scalp.", "url": "https://disease-ontology.org/term/DOID:2058", "evidence": [ { "id": "2058", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2058" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:4074", "name": "pancreatic adenocarcinoma", "description": "A pancreatic carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4074", "evidence": [ { "id": "4074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4074" } ], "weight": 0.0 }, { "disease_id": "DOID:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries.", "url": "https://disease-ontology.org/term/DOID:4780", "evidence": [ { "id": "4780", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4780" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 } ], "biological_process": [ { "name": "enteric nervous system development", "id": "GO:0048484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048484", "evidence": [ { "database": "UniProtKB", "id": "Q9DGD9", "url": "https://www.uniprot.org/uniprotkb/Q9DGD9" } ], "pmid": "" }, { "name": "JNK cascade", "id": "GO:0007254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007254", "evidence": [ { "database": "UniProtKB", "id": "Q9DGD9", "url": "https://www.uniprot.org/uniprotkb/Q9DGD9" } ], "pmid": "" }, { "name": "rhythmic process", "id": 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The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:4989", "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ], "weight": 0.0 }, { "disease_id": "DOID:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:8719", "name": "in situ carcinoma", "description": "A carcinoma 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"skin epidermis development", "id": "GO:0098773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098773", "evidence": [ { "database": "UniProtKB", "id": "Q9PUB8", "url": "https://www.uniprot.org/uniprotkb/Q9PUB8" } ], "pmid": "" }, { "name": "zinc ion transport", "id": "GO:0006829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006829", "evidence": [ { "database": "UniProtKB", "id": "Q9PUB8", "url": "https://www.uniprot.org/uniprotkb/Q9PUB8" } ], "pmid": "" }, { "name": "B cell differentiation", "id": "GO:0030183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030183", "evidence": [ { "database": "UniProtKB", "id": "Q9PUB8", "url": "https://www.uniprot.org/uniprotkb/Q9PUB8" } ], "pmid": "" }, { "name": "intracellular zinc ion homeostasis", "id": "GO:0006882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006882", "evidence": [ { "database": "UniProtKB", "id": "Q9PUB8", "url": "https://www.uniprot.org/uniprotkb/Q9PUB8" } ], "pmid": "" }, { "name": "regulation of ferroptosis", "id": "GO:0110075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110075", "evidence": [ { "database": "UniProtKB", "id": "Q9PUB8", "url": "https://www.uniprot.org/uniprotkb/Q9PUB8" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9PUB8", "url": "https://www.uniprot.org/uniprotkb/Q9PUB8" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9PUB8", "url": "https://www.uniprot.org/uniprotkb/Q9PUB8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q9PVF7-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q9PVF7", "url": "https://www.uniprot.org/uniprotkb/Q9PVF7" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 729, "chemical_mass": 80033.0, "gene_names": "jupa;cb80;danPG;fb11b06;jupa;jup;wu:fb11b06", "protein_name": "Junction plakoglobin a", "disease": [ { "disease_id": "DOID:0050431", "name": "arrhythmogenic right ventricular cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle and limited or no involvement of the left ventricle.", "url": "https://disease-ontology.org/term/DOID:0050431", "evidence": [ { "id": "0050431", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050431" } ], "weight": 0.0 }, { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID:0080365", "name": "endometrial hyperplasia", "description": "An uterine benign neoplasm that is characterized by excessive proliferation of the cells of the endometrium.", "url": "https://disease-ontology.org/term/DOID:0080365", "evidence": [ { "id": "0080365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080365" } ], "weight": 0.0 }, { "disease_id": "DOID:0080551", "name": "Naxos disease", "description": "A nonepidermolytic palmoplantar keratoderma that is characterized by palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy and that has_material_basis_in homozygous mutation in the plakoglobin gene on chromosome 17q21.", "url": "https://disease-ontology.org/term/DOID:0080551", "evidence": [ { "id": "0080551", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080551" } ], "weight": 0.0 }, { "disease_id": "DOID:0110083", "name": "arrhythmogenic right ventricular dysplasia 12", "description": "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding junction plakoglobin (JUP) on chromosome 17q21.", "url": "https://disease-ontology.org/term/DOID:0110083", "evidence": [ { "id": "0110083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110083" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:2154", "name": "nephroblastoma", "description": "A kidney cancer that affects the kidneys and typically occuring in children.", "url": "https://disease-ontology.org/term/DOID:2154", "evidence": [ { "id": "2154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2154" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:3008", "name": "invasive ductal carcinoma", "description": "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated.", "url": "https://disease-ontology.org/term/DOID:3008", "evidence": [ { "id": "3008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3008" } ], "weight": 0.0 }, { "disease_id": "DOID:305", "name": "carcinoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:305", "evidence": [ { "id": "305", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:305" } ], "weight": 0.0 }, { "disease_id": "DOID:3390", "name": "palmoplantar keratosis", "description": "A keratosis characterized by abnormal thickening of the palms and the soles.", "url": "https://disease-ontology.org/term/DOID:3390", "evidence": [ { "id": "3390", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3390" } ], "weight": 0.0 }, { "disease_id": "DOID:4440", "name": "seminoma", "description": "A germinoma that has_material_basis_in cells that make sperm and eggs.", "url": "https://disease-ontology.org/term/DOID:4440", "evidence": [ { "id": "4440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4440" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4603", "name": "epidermolytic hyperkeratosis", "description": "An ichthyosis that is characterized by generalized erythema, skin blisters and skin fragility, manifested at birth.", "url": "https://disease-ontology.org/term/DOID:4603", "evidence": [ { "id": "4603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4603" } ], "weight": 0.0 }, { "disease_id": "DOID:870", "name": "neuropathy", "description": "A nervous system disease that is located_in nerves or nerve cells.", "url": "https://disease-ontology.org/term/DOID:870", "evidence": [ { "id": "870", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:870" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q9PVF7", "url": "https://www.uniprot.org/uniprotkb/Q9PVF7" } ], "pmid": "" }, { "name": "cadherin binding", "id": "GO:0045296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045296", "evidence": [ { "database": "UniProtKB", "id": "Q9PVF7", "url": "https://www.uniprot.org/uniprotkb/Q9PVF7" } ], "pmid": "" }, { "name": "protein phosphatase binding", "id": "GO:0019903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "evidence": [ { "database": "UniProtKB", "id": "Q9PVF7", "url": "https://www.uniprot.org/uniprotkb/Q9PVF7" } ], "pmid": "" }, { "name": "alpha-catenin binding", "id": "GO:0045294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045294", "evidence": [ { "database": "UniProtKB", "id": "Q9PVF7", "url": "https://www.uniprot.org/uniprotkb/Q9PVF7" } ], "pmid": "" }, { "name": "nuclear receptor binding", "id": "GO:0016922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016922", "evidence": [ { "database": "UniProtKB", "id": "Q9PVF7", "url": "https://www.uniprot.org/uniprotkb/Q9PVF7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9PVF7", "url": "https://www.uniprot.org/uniprotkb/Q9PVF7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9PVF7", "url": "https://www.uniprot.org/uniprotkb/Q9PVF7" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q9PVF7", "url": "https://www.uniprot.org/uniprotkb/Q9PVF7" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9PVF7", "url": "https://www.uniprot.org/uniprotkb/Q9PVF7" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q9PVF7", "url": "https://www.uniprot.org/uniprotkb/Q9PVF7" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "Q9PVF7", "url": "https://www.uniprot.org/uniprotkb/Q9PVF7" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q9PVF7", "url": "https://www.uniprot.org/uniprotkb/Q9PVF7" } ], "pmid": "" }, { "name": "intercalated disc", "id": "GO:0014704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014704", "evidence": [ { "database": "UniProtKB", "id": "Q9PVF7", "url": "https://www.uniprot.org/uniprotkb/Q9PVF7" } ], "pmid": "" }, { "name": "catenin complex", "id": "GO:0016342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016342", "evidence": [ { "database": "UniProtKB", "id": "Q9PVF7", "url": "https://www.uniprot.org/uniprotkb/Q9PVF7" } ], "pmid": "" }, { "name": "desmosome", "id": "GO:0030057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030057", "evidence": [ { "database": "UniProtKB", "id": "Q9PVF7", "url": "https://www.uniprot.org/uniprotkb/Q9PVF7" } ], "pmid": "" } ], "biological_process": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q9PVF7", "url": "https://www.uniprot.org/uniprotkb/Q9PVF7" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q9PVF7", "url": "https://www.uniprot.org/uniprotkb/Q9PVF7" } ], "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": "Q9PVF7", "url": "https://www.uniprot.org/uniprotkb/Q9PVF7" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q9PVF7", "url": "https://www.uniprot.org/uniprotkb/Q9PVF7" } ], "pmid": "" }, { "name": "negative regulation of Wnt signaling pathway", "id": "GO:0030178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030178", "evidence": [ { "database": "UniProtKB", "id": "Q9PVF7", "url": "https://www.uniprot.org/uniprotkb/Q9PVF7" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "Q9PVF7", "url": "https://www.uniprot.org/uniprotkb/Q9PVF7" } ], "pmid": "" }, { "name": "atrioventricular valve morphogenesis", "id": "GO:0003181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003181", "evidence": [ { "database": "UniProtKB", "id": "Q9PVF7", "url": "https://www.uniprot.org/uniprotkb/Q9PVF7" } ], "pmid": "" }, { "name": "Kupffer's vesicle development", "id": "GO:0070121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070121", "evidence": [ { "database": "UniProtKB", "id": "Q9PVF7", "url": "https://www.uniprot.org/uniprotkb/Q9PVF7" } ], "pmid": "" }, { "name": "adherens junction maintenance", "id": "GO:0034334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034334", "evidence": [ { "database": "UniProtKB", "id": "Q9PVF7", "url": "https://www.uniprot.org/uniprotkb/Q9PVF7" } ], "pmid": "" }, { "name": "desmosome maintenance", "id": "GO:0002160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002160", "evidence": [ { "database": "UniProtKB", "id": "Q9PVF7", "url": "https://www.uniprot.org/uniprotkb/Q9PVF7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q9PVF8-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q9PVF8", "url": "https://www.uniprot.org/uniprotkb/Q9PVF8" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 907, "chemical_mass": 100519.0, "gene_names": "ctnna1;ctnna1;ctnna", "protein_name": "Catenin alpha-1", "disease": [ { "disease_id": "DOID:0060864", "name": "patterned macular dystrophy 2", "description": "A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the CTNNA1 gene on chromosome 5q31.", "url": "https://disease-ontology.org/term/DOID:0060864", "evidence": [ { "id": "0060864", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060864" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2671", "evidence": [ { "id": "2671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ], "weight": 0.0 }, { "disease_id": "DOID:3457", "name": "invasive lobular carcinoma", "description": "A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated.", "url": "https://disease-ontology.org/term/DOID:3457", "evidence": [ { "id": "3457", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3457" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in situ that is located_in the uterine cervix.", "url": "https://disease-ontology.org/term/DOID:8991", "evidence": [ { "id": "8991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8991" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9PVF8", "url": "https://www.uniprot.org/uniprotkb/Q9PVF8" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q9PVF8", "url": "https://www.uniprot.org/uniprotkb/Q9PVF8" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "Q9PVF8", "url": "https://www.uniprot.org/uniprotkb/Q9PVF8" } ], "pmid": "" }, { "name": "cell cortex", "id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q9PVF8", "url": "https://www.uniprot.org/uniprotkb/Q9PVF8" } ], "pmid": "" }, { "name": "tissue homeostasis", "id": "GO:0001894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001894", "evidence": [ { "database": "UniProtKB", "id": "Q9PVF8", "url": "https://www.uniprot.org/uniprotkb/Q9PVF8" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q9PVF8", "url": "https://www.uniprot.org/uniprotkb/Q9PVF8" } ], "pmid": "" }, { "name": "adherens junction maintenance", "id": "GO:0034334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034334", "evidence": [ { "database": "UniProtKB", "id": "Q9PVF8", "url": "https://www.uniprot.org/uniprotkb/Q9PVF8" } ], "pmid": "" }, { "name": "chordate embryonic development", "id": "GO:0043009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043009", "evidence": [ { "database": "UniProtKB", "id": "Q9PVF8", "url": "https://www.uniprot.org/uniprotkb/Q9PVF8" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q9PVF8", "url": "https://www.uniprot.org/uniprotkb/Q9PVF8" } ], "pmid": "" }, { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "Q9PVF8", "url": "https://www.uniprot.org/uniprotkb/Q9PVF8" } ], "pmid": "" }, { "name": "cadherin binding", "id": "GO:0045296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045296", "evidence": [ { "database": "UniProtKB", "id": "Q9PVF8", "url": "https://www.uniprot.org/uniprotkb/Q9PVF8" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": 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and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene.", "url": "https://disease-ontology.org/term/DOID:0050647", "evidence": [ { "id": "0050647", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050647" } ], "weight": 0.0 }, { "disease_id": "DOID:0080609", "name": "anterior segment dysgenesis 4", "description": "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25.", "url": "https://disease-ontology.org/term/DOID:0080609", "evidence": [ { "id": "0080609", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080609" } ], "weight": 0.0 }, { "disease_id": "DOID:0110120", "name": "Axenfeld-Rieger syndrome type 1", "description": "An Axenfeld-Rieger syndrome characterized by abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals that has_material_basis_in heterozygous 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}, { "name": "odontogenesis", "id": "GO:0042476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042476", "evidence": [ { "database": "UniProtKB", "id": "Q9W5Z2", "url": "https://www.uniprot.org/uniprotkb/Q9W5Z2" } ], "pmid": "" }, { "name": "embryonic cranial skeleton morphogenesis", "id": "GO:0048701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048701", "evidence": [ { "database": "UniProtKB", "id": "Q9W5Z2", "url": "https://www.uniprot.org/uniprotkb/Q9W5Z2" } ], "pmid": "" }, { "name": "face morphogenesis", "id": "GO:0060325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060325", "evidence": [ { "database": "UniProtKB", "id": "Q9W5Z2", "url": "https://www.uniprot.org/uniprotkb/Q9W5Z2" } ], "pmid": "" }, { "name": "camera-type eye morphogenesis", "id": "GO:0048593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048593", "evidence": [ { "database": "UniProtKB", "id": "Q9W5Z2", "url": "https://www.uniprot.org/uniprotkb/Q9W5Z2" } ], "pmid": "" }, { "name": "anatomical structure 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"cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9W5Z2", "url": "https://www.uniprot.org/uniprotkb/Q9W5Z2" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9W5Z2", "url": "https://www.uniprot.org/uniprotkb/Q9W5Z2" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q9W5Z2", "url": "https://www.uniprot.org/uniprotkb/Q9W5Z2" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q9W5Z2", 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"uniprot_canonical_ac": "Q9W5Z2-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Thr265", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 265, "start_aa": "Thr", "end_pos": 265, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr265", "evidence": [ { "id": "", "database": "GlyGen", "url": "https://data.glygen.org/" } ] } ] } ], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q9W686-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q9W686", "url": "https://www.uniprot.org/uniprotkb/Q9W686" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 778, 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"https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q9W6F9", "url": "https://www.uniprot.org/uniprotkb/Q9W6F9" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "Q9W6F9", "url": "https://www.uniprot.org/uniprotkb/Q9W6F9" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q9W6F9", "url": "https://www.uniprot.org/uniprotkb/Q9W6F9" } ], "pmid": "" }, { "name": "regulation of canonical Wnt signaling pathway", "id": "GO:0060828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060828", "evidence": [ { "database": "UniProtKB", "id": "Q9W6F9", "url": "https://www.uniprot.org/uniprotkb/Q9W6F9" } ], "pmid": "" }, { "name": "habenula development", "id": "GO:0021986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021986", "evidence": [ { "database": "UniProtKB", "id": "Q9W6F9", "url": "https://www.uniprot.org/uniprotkb/Q9W6F9" } ], "pmid": "" }, { "name": "swim bladder development", "id": "GO:0048794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048794", "evidence": [ { "database": "UniProtKB", "id": "Q9W6F9", "url": "https://www.uniprot.org/uniprotkb/Q9W6F9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9W6F9-1", "start_pos": "243", "end_pos": "243", "site_lbl": "Asn243", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 243, "start_aa": "Asn", "end_pos": 243, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn243", "evidence": [ { "id": "Q9W6F9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9W6F9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9W6F9-1", "start_pos": "86", "end_pos": "86", "site_lbl": "Asn86", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 86, "start_aa": "Asn", "end_pos": 86, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn86", "evidence": [ { "id": "Q9W6F9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9W6F9#ptm_processing" } ] } ] } ], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q9W6H5-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q9W6H5", "url": "https://www.uniprot.org/uniprotkb/Q9W6H5" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 158, "chemical_mass": 18053.0, "gene_names": "ube2ia;Ubc9-2;ubc9a;ubc9;ube2i2;ube2ia;ube2ib;ube2i;zUbc9", "protein_name": "SUMO-conjugating enzyme UBC9-A", "disease": [ { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.", "url": "https://disease-ontology.org/term/DOID:2531", "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ], "weight": 0.0 } ], "biological_process": [ { "name": "embryonic heart tube elongation", "id": "GO:0036306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036306", "evidence": [ { "database": "UniProtKB", "id": "Q9W6H5", "url": "https://www.uniprot.org/uniprotkb/Q9W6H5" } ], "pmid": "" }, { "name": "regeneration", "id": "GO:0031099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031099", "evidence": [ { "database": "UniProtKB", "id": "Q9W6H5", "url": "https://www.uniprot.org/uniprotkb/Q9W6H5" } ], "pmid": "" }, { "name": "chromosome segregation", "id": "GO:0007059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007059", "evidence": [ { "database": "UniProtKB", "id": "Q9W6H5", "url": "https://www.uniprot.org/uniprotkb/Q9W6H5" } ], "pmid": "" }, { "name": "protein sumoylation", "id": "GO:0016925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016925", "evidence": [ { "database": "UniProtKB", "id": "Q9W6H5", "url": "https://www.uniprot.org/uniprotkb/Q9W6H5" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q9W6H5", "url": "https://www.uniprot.org/uniprotkb/Q9W6H5" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "Q9W6H5", "url": "https://www.uniprot.org/uniprotkb/Q9W6H5" } ], "pmid": "" }, { "name": "regulation of mitotic nuclear division", "id": "GO:0007088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007088", "evidence": [ { "database": "UniProtKB", "id": "Q9W6H5", "url": "https://www.uniprot.org/uniprotkb/Q9W6H5" } ], "pmid": "" }, { "name": "definitive hemopoiesis", "id": "GO:0060216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060216", "evidence": [ { "database": "UniProtKB", "id": "Q9W6H5", "url": "https://www.uniprot.org/uniprotkb/Q9W6H5" } ], "pmid": "" }, { "name": "hematopoietic stem cell homeostasis", "id": "GO:0061484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061484", "evidence": [ { "database": "UniProtKB", "id": "Q9W6H5", "url": "https://www.uniprot.org/uniprotkb/Q9W6H5" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9W6H5", "url": "https://www.uniprot.org/uniprotkb/Q9W6H5" } ], "pmid": "" }, { "name": "SUMO transferase activity", "id": "GO:0019789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019789", "evidence": [ { "database": "UniProtKB", "id": "Q9W6H5", "url": "https://www.uniprot.org/uniprotkb/Q9W6H5" } ], "pmid": "" }, { "name": "SUMO conjugating enzyme activity", "id": "GO:0061656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061656", "evidence": [ { "database": "UniProtKB", "id": "Q9W6H5", "url": "https://www.uniprot.org/uniprotkb/Q9W6H5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9W6H5", "url": "https://www.uniprot.org/uniprotkb/Q9W6H5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q9W6S8-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q9W6S8", "url": "https://www.uniprot.org/uniprotkb/Q9W6S8" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 281, "chemical_mass": 30986.0, "gene_names": "smn1;fa12d01;smn1;smn;wu:fa12d01", "protein_name": "Survival motor neuron protein 1", "disease": [ { "disease_id": "DOID:0050529", "name": "adult spinal muscular atrophy", "description": "A spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons.", "url": "https://disease-ontology.org/term/DOID:0050529", "evidence": [ { "id": "0050529", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050529" } ], "weight": 0.0 }, { "disease_id": "DOID:0050530", "name": "intermediate spinal muscular atrophy", "description": "A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons.", "url": "https://disease-ontology.org/term/DOID:0050530", "evidence": [ { "id": "0050530", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050530" } ], "weight": 0.0 }, { "disease_id": "DOID:0060160", "name": "childhood spinal muscular atrophy", "description": "A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood and that has_material_basis_in variation in the SMN gene.", "url": "https://disease-ontology.org/term/DOID:0060160", "evidence": [ { "id": "0060160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060160" } ], "weight": 0.0 }, { "disease_id": "DOID:12376", "name": "juvenile spinal muscular atrophy", "description": "A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk and that has_material_basis_in homozygous or compound heterozygous mutation in the SMN1 gene on chromosome 5q13.", "url": "https://disease-ontology.org/term/DOID:12376", "evidence": [ { "id": "12376", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12376" } ], "weight": 0.0 }, { "disease_id": "DOID:12377", "name": "spinal muscular atrophy", "description": "A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.", "url": "https://disease-ontology.org/term/DOID:12377", "evidence": [ { "id": "12377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12377" } ], "weight": 0.0 }, { "disease_id": "DOID:13137", "name": "Werdnig-Hoffmann disease", "description": "A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted and that has_material_basis_in a mutation or deletion in the telomeric copy of the SMN gene, known as SMN1, on chromosome 5q13.", "url": "https://disease-ontology.org/term/DOID:13137", "evidence": [ { "id": "13137", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13137" } ], "weight": 0.0 } ], "biological_process": [ { "name": "peripheral nervous system neuron axonogenesis", "id": "GO:0048936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048936", "evidence": [ { "database": "UniProtKB", "id": "Q9W6S8", "url": "https://www.uniprot.org/uniprotkb/Q9W6S8" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "Q9W6S8", "url": "https://www.uniprot.org/uniprotkb/Q9W6S8" } ], "pmid": "" }, { "name": "neuromuscular junction development", "id": "GO:0007528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007528", "evidence": [ { "database": "UniProtKB", "id": "Q9W6S8", "url": "https://www.uniprot.org/uniprotkb/Q9W6S8" } ], "pmid": "" }, { "name": "dendrite development", "id": "GO:0016358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016358", "evidence": [ { "database": "UniProtKB", "id": "Q9W6S8", "url": "https://www.uniprot.org/uniprotkb/Q9W6S8" } ], "pmid": "" }, { "name": "synaptic assembly at neuromuscular junction", "id": "GO:0051124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051124", "evidence": [ { "database": "UniProtKB", "id": "Q9W6S8", "url": "https://www.uniprot.org/uniprotkb/Q9W6S8" } ], "pmid": "" }, { "name": "protein complex oligomerization", "id": "GO:0051259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051259", "evidence": [ { "database": "UniProtKB", "id": "Q9W6S8", "url": "https://www.uniprot.org/uniprotkb/Q9W6S8" } ], "pmid": "" }, { "name": "neuron cellular homeostasis", "id": "GO:0070050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070050", "evidence": [ { "database": "UniProtKB", "id": "Q9W6S8", "url": "https://www.uniprot.org/uniprotkb/Q9W6S8" } ], "pmid": "" }, { "name": "tissue regeneration", "id": "GO:0042246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042246", "evidence": [ { "database": "UniProtKB", "id": "Q9W6S8", "url": "https://www.uniprot.org/uniprotkb/Q9W6S8" } ], "pmid": "" }, { "name": "spliceosomal snRNP assembly", "id": "GO:0000387", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000387", "evidence": [ { "database": "UniProtKB", "id": "Q9W6S8", "url": "https://www.uniprot.org/uniprotkb/Q9W6S8" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "Q9W6S8", "url": "https://www.uniprot.org/uniprotkb/Q9W6S8" } ], "pmid": "" }, { "name": "axon extension", "id": "GO:0048675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048675", "evidence": [ { "database": "UniProtKB", "id": "Q9W6S8", "url": "https://www.uniprot.org/uniprotkb/Q9W6S8" } ], "pmid": "" }, { "name": "axon development", "id": "GO:0061564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061564", "evidence": [ { "database": "UniProtKB", "id": "Q9W6S8", "url": "https://www.uniprot.org/uniprotkb/Q9W6S8" } ], "pmid": "" }, { "name": "positive regulation of oxidative phosphorylation", "id": "GO:1903862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903862", "evidence": [ { "database": "UniProtKB", "id": "Q9W6S8", "url": "https://www.uniprot.org/uniprotkb/Q9W6S8" } ], "pmid": "" }, { "name": "regulation of axon extension involved in axon guidance", "id": "GO:0048841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048841", "evidence": [ { "database": "UniProtKB", "id": "Q9W6S8", "url": "https://www.uniprot.org/uniprotkb/Q9W6S8" } ], "pmid": "" }, { "name": "motor neuron axon guidance", "id": "GO:0008045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008045", "evidence": [ { "database": "UniProtKB", "id": "Q9W6S8", "url": "https://www.uniprot.org/uniprotkb/Q9W6S8" } ], "pmid": "" }, { "name": "regulation of neuromuscular junction development", "id": "GO:1904396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904396", "evidence": [ { "database": "UniProtKB", "id": "Q9W6S8", "url": "https://www.uniprot.org/uniprotkb/Q9W6S8" } ], "pmid": "" }, { "name": "axon arborization", "id": "GO:0140060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140060", "evidence": [ { "database": "UniProtKB", "id": "Q9W6S8", "url": "https://www.uniprot.org/uniprotkb/Q9W6S8" } ], "pmid": "" }, { "name": "neuromast regeneration", "id": "GO:0070657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070657", "evidence": [ { "database": "UniProtKB", "id": "Q9W6S8", "url": "https://www.uniprot.org/uniprotkb/Q9W6S8" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9W6S8", "url": "https://www.uniprot.org/uniprotkb/Q9W6S8" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9W6S8", "url": "https://www.uniprot.org/uniprotkb/Q9W6S8" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9W6S8", "url": "https://www.uniprot.org/uniprotkb/Q9W6S8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9W6S8", "url": "https://www.uniprot.org/uniprotkb/Q9W6S8" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q9W6S8", "url": "https://www.uniprot.org/uniprotkb/Q9W6S8" } ], "pmid": "" }, { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "Q9W6S8", "url": "https://www.uniprot.org/uniprotkb/Q9W6S8" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q9W6S8", "url": "https://www.uniprot.org/uniprotkb/Q9W6S8" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q9W6S8", "url": "https://www.uniprot.org/uniprotkb/Q9W6S8" } ], "pmid": "" }, { "name": "cytoplasmic ribonucleoprotein granule", "id": "GO:0036464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036464", "evidence": [ { "database": "UniProtKB", "id": "Q9W6S8", "url": "https://www.uniprot.org/uniprotkb/Q9W6S8" } ], "pmid": "" }, { "name": "Cajal body", "id": "GO:0015030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015030", "evidence": [ { "database": "UniProtKB", "id": "Q9W6S8", "url": 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"kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9W6S8", "url": "https://www.uniprot.org/uniprotkb/Q9W6S8" }, { "database": "PubMed", "id": "18307296", "url": "https://glygen.org/publication/PubMed/18307296" }, { "database": "iPTMnet", "id": "Q9W6S8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9W6S8" } ] } ] }, { "uniprot_canonical_ac": "Q9W6S8-1", "start_pos": "17", "end_pos": "17", "site_lbl": "Ser17", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9W6S8", "url": "https://www.uniprot.org/uniprotkb/Q9W6S8" }, { "database": "PubMed", "id": "18307296", "url": "https://glygen.org/publication/PubMed/18307296" }, { "database": "iPTMnet", "id": "Q9W6S8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9W6S8" } ] } ] }, { "uniprot_canonical_ac": "Q9W6S8-1", "start_pos": "20", "end_pos": "20", "site_lbl": "Ser20", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9W6S8", "url": "https://www.uniprot.org/uniprotkb/Q9W6S8" }, { "database": "PubMed", "id": "18307296", "url": "https://glygen.org/publication/PubMed/18307296" }, { "database": "iPTMnet", "id": "Q9W6S8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9W6S8" } ] } ] } ], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "Q9W720-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "Q9W720", "url": "https://www.uniprot.org/uniprotkb/Q9W720" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 310, "chemical_mass": 33573.0, "gene_names": "ucp2;cb74;slc25a8", "protein_name": "Dicarboxylate carrier UCP2", "disease": [ { "disease_id": "DOID:0050770", "name": "polycystic liver disease", "description": "A liver disease that is characterized by the presence of multiple cysts located_in the liver.", "url": "https://disease-ontology.org/term/DOID:0050770", "evidence": [ { "id": "0050770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050770" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.", "url": "https://disease-ontology.org/term/DOID:12858", "evidence": [ { "id": "12858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ], "weight": 0.0 }, { "disease_id": "DOID:13603", "name": "obstructive jaundice", "description": "A cholestasis characterized by yellowish pigmentation of the skin and sclera due to high bilirubin levels resulting from biliary tract obstruction.", "url": "https://disease-ontology.org/term/DOID:13603", "evidence": [ { "id": "13603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13603" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:3407", "name": "carotid artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3407", "evidence": [ { "id": "3407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q9W7E7", "url": "https://www.uniprot.org/uniprotkb/Q9W7E7" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9W7E7", "url": "https://www.uniprot.org/uniprotkb/Q9W7E7" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q9W7E7", "url": "https://www.uniprot.org/uniprotkb/Q9W7E7" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q9W7E7", "url": "https://www.uniprot.org/uniprotkb/Q9W7E7" } ], "pmid": "" }, { "name": "DNA-binding transcription 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"pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q9W7E7", "url": "https://www.uniprot.org/uniprotkb/Q9W7E7" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q9W7E7", "url": "https://www.uniprot.org/uniprotkb/Q9W7E7" } ], "pmid": "" }, { "name": "transforming growth factor beta receptor signaling pathway", "id": "GO:0007179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007179", "evidence": [ { "database": "UniProtKB", "id": "Q9W7E7", "url": "https://www.uniprot.org/uniprotkb/Q9W7E7" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q9W7E7", "url": 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Primary angle-closure glaucoma has a strong genetic component.", "url": "https://disease-ontology.org/term/DOID:1405", "evidence": [ { "id": "1405", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1405" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:3827", "name": "congenital diaphragmatic hernia", "description": "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the 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"name": "TORC1 signaling", "id": "GO:0038202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038202", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AP68", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AP68" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AP68", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AP68" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M3APA4-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M3APA4", "url": "https://www.uniprot.org/uniprotkb/A0A8M3APA4" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 1082, "chemical_mass": 121014.0, "gene_names": "tnk2a;tnk2a", "protein_name": 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"description": "A vascular disease that is characterized by a restriction in blood supply to tissues.", "url": "https://disease-ontology.org/term/DOID:326", "evidence": [ { "id": "326", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:326" } ], "weight": 0.0 }, { "disease_id": "DOID:3774", "name": "chordoid glioma", "description": "A high grade glioma that is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates.", "url": "https://disease-ontology.org/term/DOID:3774", "evidence": [ { "id": "3774", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3774" } ], "weight": 0.0 }, { "disease_id": "DOID:4001", "name": "ovarian carcinoma", "description": "An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:4001", "evidence": [ { "id": "4001", "database": "AGR", "url": 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"GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AR84", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AR84" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AR84", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AR84" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AR84", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AR84" } ], "pmid": "" }, { "name": "diacylglycerol-dependent serine/threonine kinase activity", "id": "GO:0004697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004697", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AR84", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AR84" } ], "pmid": "" }, { "name": "kinase activity", "id": 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"end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr174", "evidence": [ { "id": "", "database": "GlyGen", "url": "https://data.glygen.org/" } ] } ] } ], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M3B1K8-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B1K8", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B1K8" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 1180, "chemical_mass": 130733.0, "gene_names": "nrcama;nrcama;nrcam;si:dkey-240a12.1", "protein_name": "Neural cell adhesion molecule L1", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098632", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B1K8", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B1K8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M3ARE4-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ARE4", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ARE4" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 968, "chemical_mass": 107541.0, "gene_names": "dgki;dgki", "protein_name": "Diacylglycerol kinase", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ARE4", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ARE4" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ARE4", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ARE4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ARE4", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ARE4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ARE4", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ARE4" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ARE4", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ARE4" } ], "pmid": "" } ], "biological_process": [ { "name": "diacylglycerol metabolic 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140658", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ARX1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ARX1" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ARX1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ARX1" } ], "pmid": "" } ], "cellular_component": [ { "name": "spindle", "id": "GO:0005819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005819", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ARX1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ARX1" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ARX1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ARX1" } ], "pmid": "" }, { "name": "Ino80 complex", "id": "GO:0031011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031011", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ARX1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ARX1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M3B2S1-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B2S1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B2S1" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 483, "chemical_mass": 52263.0, "gene_names": "mef2cb;mef2cb;si:ch211-202e12.2", "protein_name": "", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0070050", "name": "neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language", "description": "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with hypotonia, poor motor development with limited walking, impaired intellectual development with poor or absent speech, and behavioral abnormalities and that has_material_basis_in an autosomal dominant mutation of the MEF2C gene on chromosome 5q14.3.", "url": "https://disease-ontology.org/term/DOID:0070050", "evidence": [ { "id": "0070050", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070050" } ], "weight": 0.0 }, { "disease_id": "DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.", "url": "https://disease-ontology.org/term/DOID:1059", "evidence": [ { "id": "1059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "weight": 0.0 }, { "disease_id": "DOID:1094", "name": "attention deficit hyperactivity disorder", "description": "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.", "url": "https://disease-ontology.org/term/DOID:1094", "evidence": [ { "id": "1094", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1094" } ], "weight": 0.0 }, { "disease_id": "DOID:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B2S1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B2S1" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B2S1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B2S1" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B2S1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B2S1" } ], "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": "A0A8M3B2S1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B2S1" } ], "pmid": "" }, { "name": "embryonic heart tube morphogenesis", "id": "GO:0003143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003143", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B2S1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B2S1" } ], "pmid": "" }, { "name": "cardiac muscle cell differentiation", "id": "GO:0055007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055007", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B2S1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B2S1" } ], "pmid": "" }, { "name": "cardiac muscle cell development", "id": "GO:0055013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055013", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B2S1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B2S1" } ], "pmid": "" }, { "name": "heart formation", "id": "GO:0060914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060914", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B2S1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B2S1" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B2S1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B2S1" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B2S1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B2S1" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B2S1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B2S1" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B2S1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B2S1" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B2S1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B2S1" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B2S1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B2S1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M3ASP8-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ASP8", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ASP8" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 796, "chemical_mass": 92070.0, "gene_names": "ppef2a;ppef2a", "protein_name": "Serine/threonine-protein phosphatase", "disease": [], "biological_process": [ { "name": "detection of stimulus involved in sensory perception", "id": "GO:0050906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050906", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ASP8", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ASP8" } ], "pmid": "" }, { "name": "negative regulation of MAPK cascade", "id": "GO:0043409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043409", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ASP8", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ASP8" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ASP8", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ASP8" } ], "pmid": "" } ], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ASP8", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ASP8" } ], "pmid": "" }, { "name": "manganese ion binding", "id": "GO:0030145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030145", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ASP8", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ASP8" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ASP8", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ASP8" } ], "pmid": "" }, { "name": "protein serine/threonine phosphatase activity", "id": "GO:0004722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004722", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ASP8", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ASP8" } ], "pmid": "" }, { "name": "Hsp90 protein binding", "id": "GO:0051879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051879", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ASP8", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ASP8" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ASP8", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ASP8" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ASP8", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ASP8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M3AT49-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AT49", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AT49" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 978, "chemical_mass": 108673.0, "gene_names": "bbs9;bbs9", "protein_name": "", "disease": [ { "disease_id": "DOID:0110131", "name": "Bardet-Biedl syndrome 9", "description": "A Bardet-Biedl syndrome that has_material_basis_in homozygosity or compound heterozygosity for mutations in the PTHB1 gene on chromosome 7p14.", "url": "https://disease-ontology.org/term/DOID:0110131", "evidence": [ { "id": "0110131", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110131" } ], "weight": 0.0 }, { "disease_id": "DOID:1935", "name": "Bardet-Biedl syndrome", "description": "A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.", "url": "https://disease-ontology.org/term/DOID:1935", "evidence": [ { "id": "1935", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1935" } ], "weight": 0.0 }, { "disease_id": "DOID:2340", "name": "craniosynostosis", "description": "A synostosis that results_in premature fusion located_in skull.", "url": "https://disease-ontology.org/term/DOID:2340", "evidence": [ { "id": "2340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2340" } ], "weight": 0.0 }, { "disease_id": "DOID:5426", "name": "primary ovarian insufficiency", "description": "An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40.", "url": "https://disease-ontology.org/term/DOID:5426", "evidence": [ { "id": "5426", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5426" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AT49", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AT49" } ], "pmid": "" }, { "name": "BBSome", "id": "GO:0034464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034464", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AT49", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AT49" } ], "pmid": "" } ], "biological_process": [ { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AT49", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AT49" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AT49", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AT49" } ], "pmid": "" }, { "name": "retina layer formation", "id": "GO:0010842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010842", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AT49", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AT49" } ], "pmid": "" }, { "name": "gastrulation", "id": "GO:0007369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007369", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AT49", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AT49" } ], "pmid": "" }, { "name": "eye development", "id": "GO:0001654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001654", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AT49", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AT49" } ], "pmid": "" }, { "name": "pronephros development", "id": "GO:0048793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048793", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AT49", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AT49" } ], "pmid": "" }, { "name": "renal filtration", "id": "GO:0097205", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097205", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AT49", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AT49" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M3ATF0-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ATF0", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ATF0" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 337, "chemical_mass": 37121.0, "gene_names": "ctss2.2;ctss2.2;ctssb.2;ctssb2;wu:fj84d06;zgc:111950;zgc:112489", "protein_name": "", "disease": [ { "disease_id": "DOID:0050848", "name": "obstructive sleep apnea", "description": "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.", "url": "https://disease-ontology.org/term/DOID:0050848", "evidence": [ { "id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ], "weight": 0.0 }, { "disease_id": "DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.", "url": "https://disease-ontology.org/term/DOID:0080600", "evidence": [ { "id": "0080600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ], "weight": 0.0 }, { "disease_id": "DOID:10300", "name": "Raynaud disease", "description": "A peripheral vascular disease that is characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or cyanosis in response to cold exposure or stress.", "url": "https://disease-ontology.org/term/DOID:10300", "evidence": [ { "id": "10300", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10300" } ], "weight": 0.0 }, { "disease_id": "DOID:10316", "name": "pneumoconiosis", "description": "An interstitial lung disease that is caused by the inhalation of dust.", "url": "https://disease-ontology.org/term/DOID:10316", "evidence": [ { "id": "10316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10316" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10941", "name": "intracranial aneurysm", "description": "", "url": "https://disease-ontology.org/term/DOID:10941", "evidence": [ { "id": "10941", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10941" } ], "weight": 0.0 }, { "disease_id": "DOID:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.", "url": "https://disease-ontology.org/term/DOID:11335", "evidence": [ { "id": "11335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ], "weight": 0.0 }, { "disease_id": "DOID:11723", "name": "Duchenne muscular dystrophy", "description": "A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.", "url": "https://disease-ontology.org/term/DOID:11723", "evidence": [ { "id": "11723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11723" } ], "weight": 0.0 }, { "disease_id": "DOID:14250", "name": "Down syndrome", "description": "A chromosomal duplication syndrome that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.", "url": "https://disease-ontology.org/term/DOID:14250", "evidence": [ { "id": "14250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14250" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1580", "name": "diffuse scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1580", "evidence": [ { "id": "1580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1580" } ], "weight": 0.0 }, { "disease_id": "DOID:2378", "name": "relapsing-remitting multiple sclerosis", "description": "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles.", "url": "https://disease-ontology.org/term/DOID:2378", "evidence": [ { "id": "2378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2378" } ], "weight": 0.0 }, { "disease_id": "DOID:2797", "name": "idiopathic interstitial pneumonia", "description": "A pneumonia located_in the lung parenchyma of unknown cause.", "url": "https://disease-ontology.org/term/DOID:2797", "evidence": [ { "id": "2797", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2797" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.", "url": "https://disease-ontology.org/term/DOID:3082", "evidence": [ { "id": "3082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3407", "name": "carotid artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3407", "evidence": [ { "id": "3407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ], "weight": 0.0 }, { "disease_id": "DOID:870", "name": "neuropathy", "description": "A nervous system disease that is located_in nerves or nerve cells.", "url": "https://disease-ontology.org/term/DOID:870", "evidence": [ { "id": "870", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:870" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin 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"id": "A0A8M3AWN1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AWN1" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 874, "chemical_mass": 98453.0, "gene_names": "pde8b;pde8b", "protein_name": "Phosphodiesterase", "disease": [ { "disease_id": "DOID:0070548", "name": "primary pigmented nodular adrenocortical disease 3", "description": "A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PDE8B gene on chromosome 5q13.3.", "url": "https://disease-ontology.org/term/DOID:0070548", "evidence": [ { "id": "0070548", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070548" } ], "weight": 0.0 } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AWN1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AWN1" } ], 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"url": "https://www.uniprot.org/uniprotkb/A0A8M3AWN1" } ], "pmid": "" }, { "name": "negative regulation of cAMP/PKA signal transduction", "id": "GO:0141162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141162", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AWN1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AWN1" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AWN1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AWN1" } ], "pmid": "" }, { "name": "3',5'-cyclic-AMP phosphodiesterase activity", "id": "GO:0004115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004115", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3AWN1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3AWN1" } ], "pmid": "" }, { "name": "3',5'-cyclic-GMP phosphodiesterase activity", "id": "GO:0047555", "url": 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"evidence": [ { "database": "UniProtKB", "id": "A0A8M3ATS4", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ATS4" } ], "pmid": "" }, { "name": "hyaluronan catabolic process", "id": "GO:0030214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030214", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ATS4", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ATS4" } ], "pmid": "" } ], "molecular_function": [ { "name": "hyalurononglucosaminidase activity", "id": "GO:0004415", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004415", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ATS4", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ATS4" } ], "pmid": "" }, { "name": "hyaluronoglucuronidase activity", "id": "GO:0033906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033906", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ATS4", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ATS4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A0A8M3ATS4-1", "start_pos": "366", "end_pos": "366", "site_lbl": "Asn366", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 366, "start_aa": "Asn", "end_pos": 366, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn366", "evidence": [ { "id": "A0A8M3ATS4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A0A8M3ATS4#ptm_processing" }, { "id": "PIRSR038193-2", "database": "PIR Site Rule", "url": "https://proteininformationresource.org/cgi-bin/pirrule?id=PIRSR038193-2" } ] } ] } ], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M3ATV7-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M3ATV7", "url": 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} ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M3B0G1-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B0G1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B0G1" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 419, "chemical_mass": 46700.0, "gene_names": "LOC103911233;LOC103911233", "protein_name": "Kynurenine--oxoglutarate transaminase 3", "disease": [], "biological_process": [ { "name": "L-kynurenine catabolic process", "id": "GO:0097053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097053", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B0G1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B0G1" } ], "pmid": "" } ], "molecular_function": [ { "name": "kynurenine-glyoxylate transaminase activity", "id": "GO:0047315", "url": 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"pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M3B615-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B615", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B615" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 1016, "chemical_mass": 112845.0, "gene_names": "adnpb;adnp1b;adnpb;adnp;wu:fi72f04", "protein_name": "", "disease": [ { "disease_id": "DOID:0070058", "name": "Helsmoortel-Van Der Aa Syndrome", "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ADNP gene on chromosome 20q13.13.", "url": "https://disease-ontology.org/term/DOID:0070058", "evidence": [ { "id": "0070058", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070058" } ], "weight": 0.0 }, { 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"url": "https://www.uniprot.org/uniprotkb/A0A8M3B615" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B615", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B615" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B615", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B615" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B615", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B615" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M3B6F1-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B6F1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B6F1" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 253, "chemical_mass": 28803.0, "gene_names": "pdyn;fj38c03;pdyn;wu:fj38c03", "protein_name": "Proenkephalin-B", "disease": [ { "disease_id": "DOID:0050696", "name": "fetal alcohol spectrum disorder", "description": "A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy.", "url": "https://disease-ontology.org/term/DOID:0050696", "evidence": [ { "id": "0050696", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050696" } ], "weight": 0.0 }, { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, 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"id": "GO:0043226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043226", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7K5", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7K5" } ], "pmid": "" } ], "biological_process": [ { "name": "monoatomic cation transmembrane transport", "id": "GO:0098655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098655", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7K5", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7K5" } ], "pmid": "" } ], "molecular_function": [ { "name": "NMDA glutamate receptor activity", "id": "GO:0004972", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004972", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7K5", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7K5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M3B7U5-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7U5", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7U5" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 508, "chemical_mass": 56558.0, "gene_names": "pimr157;pimr157", "protein_name": "non-specific serine/threonine protein kinase", "disease": [], "molecular_function": [ { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7U5", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7U5" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7U5", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7U5" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7U5", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7U5" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7U5", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7U5" } ], "pmid": "" }, { "name": "regulation of mitotic cell cycle", "id": "GO:0007346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007346", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7U5", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7U5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M3B7W8-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7W8", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7W8" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 454, "chemical_mass": 52907.0, "gene_names": "gabrg1;gabrg1", "protein_name": "", "disease": [ { "disease_id": "DOID:12098", "name": "trigeminal neuralgia", "description": "", "url": "https://disease-ontology.org/term/DOID:12098", "evidence": [ { "id": "12098", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12098" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7W8", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7W8" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7W8", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7W8" } ], "pmid": "" }, { "name": "chloride channel complex", "id": "GO:0034707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034707", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7W8", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7W8" } ], "pmid": "" }, { "name": "dendrite membrane", "id": "GO:0032590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032590", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7W8", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7W8" } ], "pmid": "" }, { "name": "GABA-A receptor complex", "id": "GO:1902711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902711", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7W8", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7W8" } ], "pmid": "" } ], "biological_process": [ { "name": "gamma-aminobutyric acid signaling pathway", "id": "GO:0007214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007214", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7W8", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7W8" } ], "pmid": "" }, { "name": "chloride transmembrane transport", "id": "GO:1902476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7W8", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7W8" } ], "pmid": "" }, { "name": "synaptic transmission, GABAergic", "id": "GO:0051932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051932", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7W8", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7W8" } ], "pmid": "" }, { "name": "inhibitory synapse assembly", "id": "GO:1904862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904862", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7W8", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7W8" } ], "pmid": "" } ], "molecular_function": [ { "name": "GABA-A receptor activity", "id": "GO:0004890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004890", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7W8", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7W8" } ], "pmid": "" }, { "name": "GABA-gated chloride ion channel activity", "id": "GO:0022851", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022851", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7W8", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7W8" } ], "pmid": "" }, { "name": "chloride channel activity", "id": "GO:0005254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005254", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7W8", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7W8" } ], "pmid": "" }, { "name": "extracellular ligand-gated monoatomic ion channel activity", "id": "GO:0005230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005230", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7W8", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7W8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M3B7X7-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7X7", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7X7" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 824, "chemical_mass": 94890.0, "gene_names": "tlr4ba;TIR4.1;tlr4a;tlr4ba", "protein_name": "Toll-like receptor 4", "disease": [ { "disease_id": "DOID:0050073", "name": "invasive aspergillosis", "description": "An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage.", "url": "https://disease-ontology.org/term/DOID:0050073", "evidence": [ { "id": "0050073", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050073" } ], "weight": 0.0 }, { "disease_id": "DOID:0050127", "name": "sinusitis", "description": "A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip.", "url": "https://disease-ontology.org/term/DOID:0050127", "evidence": [ { "id": "0050127", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050127" } ], "weight": 0.0 }, { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0050855", "name": "renal fibrosis", "description": "A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function.", "url": "https://disease-ontology.org/term/DOID:0050855", "evidence": [ { "id": "0050855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050855" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon.", "url": "https://disease-ontology.org/term/DOID:0060180", "evidence": [ { "id": "0060180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ], "weight": 0.0 }, { "disease_id": "DOID:0060189", "name": "ileitis", "description": "An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss.", "url": "https://disease-ontology.org/term/DOID:0060189", "evidence": [ { "id": "0060189", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060189" } ], "weight": 0.0 }, { "disease_id": "DOID:0060322", "name": "mastoiditis", "description": "A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process.", "url": "https://disease-ontology.org/term/DOID:0060322", "evidence": [ { "id": "0060322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060322" } ], "weight": 0.0 }, { "disease_id": "DOID:0060496", "name": "respiratory allergy", "description": "An allergic disease that is located_in the respiratory tract.", "url": "https://disease-ontology.org/term/DOID:0060496", "evidence": [ { "id": "0060496", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060496" } ], "weight": 0.0 }, { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0080158", "name": "herpes simplex virus keratitis", "description": "A keratitis that has_material_basis_in herpes simplex type infection.", "url": "https://disease-ontology.org/term/DOID:0080158", "evidence": [ { "id": "0080158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080158" } ], "weight": 0.0 }, { "disease_id": "DOID:0080176", "name": "meningococcal meningitis", "description": "A bacterial meningitis that has_material_basis_in Neisseria meningitidis infection.", "url": "https://disease-ontology.org/term/DOID:0080176", "evidence": [ { "id": "0080176", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080176" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080784", "name": "urinary tract infection", "description": "An urinary system disease that is characterized by an infection in any part of the urinary system, including the kidneys, ureters, bladder or urethra.", "url": "https://disease-ontology.org/term/DOID:0080784", "evidence": [ { "id": "0080784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080784" } ], "weight": 0.0 }, { "disease_id": "DOID:0080998", "name": "acute necrotizing pancreatitis", "description": "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.", "url": "https://disease-ontology.org/term/DOID:0080998", "evidence": [ { "id": "0080998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080998" } ], "weight": 0.0 }, { "disease_id": "DOID:10074", "name": "hymenolepiasis", "description": "A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness.", "url": "https://disease-ontology.org/term/DOID:10074", "evidence": [ { "id": "10074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10074" } ], "weight": 0.0 }, { "disease_id": "DOID:10140", "name": "dry eye syndrome", "description": "A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface.", "url": "https://disease-ontology.org/term/DOID:10140", "evidence": [ { "id": "10140", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10140" } ], "weight": 0.0 }, { "disease_id": "DOID:10223", "name": "dermatomyositis", "description": "A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction.", "url": "https://disease-ontology.org/term/DOID:10223", "evidence": [ { "id": "10223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10223" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:106", "name": "pleural tuberculosis", "description": "An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac.", "url": "https://disease-ontology.org/term/DOID:106", "evidence": [ { "id": "106", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:106" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10690", "name": "mastitis", "description": "A breast disease characterized by painful infection of the breast tissue.", "url": "https://disease-ontology.org/term/DOID:10690", "evidence": [ { "id": "10690", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10690" } ], "weight": 0.0 }, { "disease_id": "DOID:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.", "url": "https://disease-ontology.org/term/DOID:1070", "evidence": [ { "id": "1070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ], "weight": 0.0 }, { "disease_id": "DOID:1074", "name": "kidney failure", "description": "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.", "url": "https://disease-ontology.org/term/DOID:1074", "evidence": [ { "id": "1074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1074" } ], "weight": 0.0 }, { "disease_id": "DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear.", "url": "https://disease-ontology.org/term/DOID:10754", "evidence": [ { "id": "10754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ], "weight": 0.0 }, { "disease_id": "DOID:10964", "name": "cholesteatoma of middle ear", "description": "", "url": "https://disease-ontology.org/term/DOID:10964", "evidence": [ { "id": "10964", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10964" } ], "weight": 0.0 }, { "disease_id": "DOID:11121", "name": "pulpitis", "description": "A dental pulp disease characterized by inflammation.", "url": "https://disease-ontology.org/term/DOID:11121", "evidence": [ { "id": "11121", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11121" } ], "weight": 0.0 }, { "disease_id": "DOID:11168", "name": "anogenital venereal wart", "description": "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.", "url": "https://disease-ontology.org/term/DOID:11168", "evidence": [ { "id": "11168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ], "weight": 0.0 }, { "disease_id": "DOID:11204", "name": "allergic conjunctivitis", "description": "A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant.", "url": "https://disease-ontology.org/term/DOID:11204", "evidence": [ { "id": "11204", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11204" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:11506", "name": "suppurative otitis media", "description": "A otitis media which involves inflammation of the middle ear with infected effusion containing pus.", "url": "https://disease-ontology.org/term/DOID:11506", "evidence": [ { "id": "11506", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11506" } ], "weight": 0.0 }, { "disease_id": "DOID:11823", "name": "hepatorenal syndrome", "description": "An acute kidney failure that is characterized by severe renal vasoconstriction.", "url": "https://disease-ontology.org/term/DOID:11823", "evidence": [ { "id": "11823", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11823" } ], "weight": 0.0 }, { "disease_id": "DOID:1214", "name": "tympanosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1214", "evidence": [ { "id": "1214", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1214" } ], "weight": 0.0 }, { "disease_id": "DOID:12306", "name": "vitiligo", "description": "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.", "url": "https://disease-ontology.org/term/DOID:12306", "evidence": [ { "id": "12306", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12306" } ], "weight": 0.0 }, { "disease_id": "DOID:12351", "name": "alcoholic hepatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:12351", "evidence": [ { "id": "12351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12351" } ], "weight": 0.0 }, { "disease_id": "DOID:1273", "name": "respiratory syncytial virus infectious disease", "description": "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.", "url": "https://disease-ontology.org/term/DOID:1273", "evidence": [ { "id": "1273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ], "weight": 0.0 }, { "disease_id": "DOID:13001", "name": "carotid stenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:13001", "evidence": [ { "id": "13001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13001" } ], "weight": 0.0 }, { "disease_id": "DOID:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "weight": 0.0 }, { "disease_id": "DOID:13241", "name": "Behcet's disease", "description": "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID:13375", "name": "temporal arteritis", "description": "A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head.", "url": "https://disease-ontology.org/term/DOID:13375", "evidence": [ { "id": "13375", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13375" } ], "weight": 0.0 }, { "disease_id": "DOID:13378", "name": "Kawasaki disease", "description": "A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities.", "url": "https://disease-ontology.org/term/DOID:13378", "evidence": [ { "id": "13378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13378" } ], "weight": 0.0 }, { "disease_id": "DOID:13544", "name": "low tension glaucoma", "description": "An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. Normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision.", "url": "https://disease-ontology.org/term/DOID:13544", "evidence": [ { "id": "13544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13544" } ], "weight": 0.0 }, { "disease_id": "DOID:13641", "name": "exfoliation syndrome", "description": "A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures.", "url": "https://disease-ontology.org/term/DOID:13641", "evidence": [ { "id": "13641", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13641" } ], "weight": 0.0 }, { "disease_id": "DOID:13809", "name": "familial combined hyperlipidemia", "description": "", "url": "https://disease-ontology.org/term/DOID:13809", "evidence": [ { "id": "13809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13809" } ], "weight": 0.0 }, { "disease_id": "DOID:14018", "name": "alcoholic liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14018", "evidence": [ { "id": "14018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14018" } ], "weight": 0.0 }, { "disease_id": "DOID:1407", "name": "anterior uveitis", "description": "", "url": "https://disease-ontology.org/term/DOID:1407", "evidence": [ { "id": "1407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1407" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1495", "name": "cystic echinococcosis", "description": "An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected.", "url": "https://disease-ontology.org/term/DOID:1495", "evidence": [ { "id": "1495", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1495" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3042", "name": "allergic contact dermatitis", "description": "A contact dermatitis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign.", "url": "https://disease-ontology.org/term/DOID:3042", "evidence": [ { "id": "3042", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3042" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3407", "name": "carotid artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3407", "evidence": [ { "id": "3407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:4194", "name": "glucose metabolism disease", "description": "A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range.", "url": "https://disease-ontology.org/term/DOID:4194", "evidence": [ { "id": "4194", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4194" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:4481", "name": "allergic rhinitis", "description": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.", "url": "https://disease-ontology.org/term/DOID:4481", "evidence": [ { "id": "4481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4481" } ], "weight": 0.0 }, { "disease_id": "DOID:4677", "name": "keratitis", "description": "A corneal disease that is characterized by inflammation of the cornea.", "url": "https://disease-ontology.org/term/DOID:4677", "evidence": [ { "id": "4677", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4677" } ], "weight": 0.0 }, { "disease_id": "DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:4989", "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5614", "name": "eye disease", "description": "An eye and adnexa disease that is located_in the eye.", "url": "https://disease-ontology.org/term/DOID:5614", "evidence": [ { "id": "5614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5614" } ], "weight": 0.0 }, { "disease_id": "DOID:580", "name": "uric acid nephrolithiasis", "description": "A nephrolithiasis that is characterized by stones composed predominantly uric acid.", "url": "https://disease-ontology.org/term/DOID:580", "evidence": [ { "id": "580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:580" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:612", "name": "primary immunodeficiency disease", "description": "An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.", "url": "https://disease-ontology.org/term/DOID:612", "evidence": [ { "id": "612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:612" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.", "url": "https://disease-ontology.org/term/DOID:7147", "evidence": [ { "id": "7147", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7147" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:848", "name": "arthritis", "description": "A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint.", "url": "https://disease-ontology.org/term/DOID:848", "evidence": [ { "id": "848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:848" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:854", "name": "collagen disease", "description": "A connective tissue disease that characterized by connective tissue disease that has_material_basis_in inheritable defects in collagen.", "url": "https://disease-ontology.org/term/DOID:854", "evidence": [ { "id": "854", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:854" } ], "weight": 0.0 }, { "disease_id": "DOID:8677", "name": "perinatal necrotizing enterocolitis", "description": "", "url": "https://disease-ontology.org/term/DOID:8677", "evidence": [ { "id": "8677", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8677" } ], "weight": 0.0 }, { "disease_id": "DOID:869", "name": "cholesteatoma", "description": "A keratosis that is characterized by keratinizing squamous epithelium located in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction.", "url": "https://disease-ontology.org/term/DOID:869", "evidence": [ { "id": "869", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:869" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9111", "name": "cutaneous leishmaniasis", "description": "A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.", "url": "https://disease-ontology.org/term/DOID:9111", "evidence": [ { "id": "9111", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9111" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "weight": 0.0 }, { "disease_id": "DOID:9743", "name": "diabetic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9743", "evidence": [ { "id": "9743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "transmembrane signaling receptor activity", "id": "GO:0004888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004888", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7X7", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7X7" } ], "pmid": "" }, { "name": "lipopolysaccharide binding", "id": "GO:0001530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001530", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7X7", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7X7" } ], "pmid": "" }, { "name": "lipopolysaccharide immune receptor activity", "id": "GO:0001875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001875", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7X7", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7X7" } ], "pmid": "" } ], "cellular_component": [ { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7X7", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7X7" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7X7", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7X7" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7X7", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7X7" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7X7", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7X7" } ], "pmid": "" }, { "name": "lipopolysaccharide receptor complex", "id": "GO:0046696", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046696", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7X7", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7X7" } ], "pmid": "" } ], "biological_process": [ { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7X7", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7X7" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7X7", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7X7" } ], "pmid": "" }, { "name": "defense response to Gram-negative bacterium", "id": "GO:0050829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050829", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7X7", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7X7" } ], "pmid": "" }, { "name": "toll-like receptor 4 signaling pathway", "id": "GO:0034142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034142", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7X7", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7X7" } ], "pmid": "" }, { "name": "MyD88-dependent toll-like receptor signaling pathway", "id": "GO:0002755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002755", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7X7", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7X7" } ], "pmid": "" }, { "name": "detection of lipopolysaccharide", "id": "GO:0032497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032497", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7X7", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7X7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M3B7Z1-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7Z1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7Z1" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 1940, "chemical_mass": 221337.0, "gene_names": "scn12aa;scn12aa", "protein_name": "Sodium channel protein", "disease": [ { "disease_id": "DOID:0060170", "name": "generalized epilepsy with febrile seizures plus", "description": "An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset.", "url": "https://disease-ontology.org/term/DOID:0060170", "evidence": [ { "id": "0060170", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060170" } ], "weight": 0.0 }, { "disease_id": "DOID:0080422", "name": "Dravet syndrome", "description": "A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24.", "url": "https://disease-ontology.org/term/DOID:0080422", "evidence": [ { "id": "0080422", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080422" } ], "weight": 0.0 }, { "disease_id": "DOID:0110218", "name": "Brugada syndrome 1", "description": "A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN5A gene on chromosome 3p22.", "url": "https://disease-ontology.org/term/DOID:0110218", "evidence": [ { "id": "0110218", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110218" } ], "weight": 0.0 }, { "disease_id": "DOID:0110646", "name": "long QT syndrome 3", "description": "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN5A gene on chromosome 3p22.2.", "url": "https://disease-ontology.org/term/DOID:0110646", "evidence": [ { "id": "0110646", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110646" } ], "weight": 0.0 }, { "disease_id": "DOID:0111074", "name": "progressive familial heart block type IA", "description": "A progressive familial heart block characterized by autosomal dominant inheritance of cardiac bundle branch disorder that may progress to complete heart block that has_material_basis_in mutation in the SCN5A gene on chromosome 3p21.", "url": "https://disease-ontology.org/term/DOID:0111074", "evidence": [ { "id": "0111074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111074" } ], "weight": 0.0 }, { "disease_id": "DOID:0111294", "name": "generalized epilepsy with febrile seizures plus 2", "description": "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1A on chromosome 2q24.3.", "url": "https://disease-ontology.org/term/DOID:0111294", "evidence": [ { "id": "0111294", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111294" } ], "weight": 0.0 }, { "disease_id": "DOID:13884", "name": "sick sinus syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:13884", "evidence": [ { "id": "13884", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13884" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 } ], "biological_process": [ { "name": "neuronal action potential", "id": "GO:0019228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019228", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7Z1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7Z1" } ], "pmid": "" }, { "name": "sensory perception of pain", "id": "GO:0019233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019233", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7Z1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7Z1" } ], "pmid": "" }, { "name": "membrane depolarization during action potential", "id": "GO:0086010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086010", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7Z1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7Z1" } ], "pmid": "" }, { "name": "regulation of heart contraction", "id": "GO:0008016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008016", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7Z1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7Z1" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7Z1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7Z1" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7Z1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7Z1" } ], "pmid": "" }, { "name": "sodium ion transmembrane transport", "id": "GO:0035725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035725", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7Z1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7Z1" } ], "pmid": "" } ], "cellular_component": [ { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7Z1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7Z1" } ], "pmid": "" }, { "name": "voltage-gated sodium channel complex", "id": "GO:0001518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001518", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7Z1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7Z1" } ], "pmid": "" } ], "molecular_function": [ { "name": "voltage-gated sodium channel activity", "id": "GO:0005248", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005248", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B7Z1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B7Z1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M3B826-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B826", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B826" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 565, "chemical_mass": 64611.0, "gene_names": "galnt2;galnt2;im:7140357;si:dkey-162b3.1", "protein_name": "Polypeptide N-acetylgalactosaminyltransferase", "disease": [ { "disease_id": "DOID:0051049", "name": "congenital disorder of glycosylation type IIt", "description": "A congenital disorder of glycosylation type II that is characterized by global developmental delay, poor overall growth, severely impaired intellectual development with absent language, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the GALNT2 gene on chromosome 1q41.", "url": "https://disease-ontology.org/term/DOID:0051049", "evidence": [ { "id": "0051049", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051049" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B826", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B826" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B826", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B826" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B826", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B826" } ], "pmid": "" }, { "name": "Golgi cisterna membrane", "id": "GO:0032580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032580", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B826", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B826" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B826", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B826" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B826", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B826" } ], "pmid": "" }, { "name": "polypeptide N-acetylgalactosaminyltransferase activity", "id": "GO:0004653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004653", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B826", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B826" } ], "pmid": "" } ], "biological_process": [ { "name": "protein O-linked glycosylation", "id": "GO:0006493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006493", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B826", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B826" } ], "pmid": "" }, { "name": "regulation of bone mineralization", "id": "GO:0030500", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030500", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B826", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B826" } ], "pmid": "" }, { "name": "fin regeneration", "id": "GO:0031101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031101", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B826", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B826" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M3B909-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B909", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B909" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 719, "chemical_mass": 82355.0, "gene_names": "prkcq;prkcq;si:ch211-239o15.1", "protein_name": "Protein kinase C", "disease": [ { "disease_id": "DOID:2018", "name": "hyperinsulinism", "description": "", "url": "https://disease-ontology.org/term/DOID:2018", "evidence": [ { "id": "2018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ], "weight": 0.0 }, { "disease_id": "DOID:2526", "name": "prostate adenocarcinoma", "description": "A prostate carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:2526", "evidence": [ { "id": "2526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2526" } ], "weight": 0.0 }, { "disease_id": "DOID:5327", "name": "retinal detachment", "description": "", "url": "https://disease-ontology.org/term/DOID:5327", "evidence": [ { "id": 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transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B909", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B909" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M3B9I7-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M3B9I7", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B9I7" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 1059, "chemical_mass": 121948.0, "gene_names": "myo1ha;myo1ha", "protein_name": "Unconventional myosin-Ic", "disease": [ { "disease_id": "DOID:0060731", "name": "congenital central hypoventilation syndrome", "description": "An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005921", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PD49", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PD49" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M9PD63-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PD63", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PD63" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 591, "chemical_mass": 68408.0, "gene_names": "cblc;cblc;si:ch211-175g6.9;zgc:172162", "protein_name": "E3 ubiquitin-protein ligase CBL", "disease": [], "molecular_function": [ { "name": "phosphotyrosine residue binding", "id": "GO:0001784", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001784", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PD63", "url": 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"uniprot_canonical_ac": "A0A8M9PD73-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PD73", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PD73" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 466, "chemical_mass": 52288.0, "gene_names": "cdk14;cdk14;zgc:172096", "protein_name": "Cyclin-dependent kinase 14", "disease": [], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PD73", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PD73" } ], "pmid": "" }, { "name": "kinase activity", "id": "GO:0016301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PD73", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PD73" } ], "pmid": "" }, { "name": "cyclin-dependent protein 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"A0A8M9PDN7", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PDN7" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 587, "chemical_mass": 64274.0, "gene_names": "slc34a1b;slc34a1b", "protein_name": "Sodium-dependent phosphate transport protein 2A", "disease": [ { "disease_id": "DOID:0050336", "name": "hypophosphatemia", "description": "A phosphorus metabolism disease that is characterized by hypophosphatemia and the symptoms of osteomalacia including bone pain, skeletal deformities and osteoarthritis.", "url": "https://disease-ontology.org/term/DOID:0050336", "evidence": [ { "id": "0050336", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050336" } ], "weight": 0.0 }, { "disease_id": "DOID:0050947", "name": "hereditary hypophosphatemic rickets with hypercalciuria", "description": "A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal 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} ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9Q2N7", "url": "https://www.uniprot.org/uniprotkb/A0A8M9Q2N7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M9PLW9-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PLW9", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PLW9" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 474, "chemical_mass": 53509.0, "gene_names": "fli1;cb855;fli-1;fli1a;fli1;fli;wu:fc45b11", "protein_name": "", "disease": [ { "disease_id": "DOID:1588", "name": "thrombocytopenia", "description": "A blood platelet disease that is characterized by low a platelet count in the blood.", "url": 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"reference_species": "Danio rerio [7955]" } ], "length": 679, "chemical_mass": 77346.0, "gene_names": "prkcaa;im:7139045;prkcaa;prkca;si:dkey-8l19.1", "protein_name": "Protein kinase C", "disease": [ { "disease_id": "DOID:0060074", "name": "ductal carcinoma in situ", "description": "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:0060074", "evidence": [ { "id": "0060074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060074" } ], "weight": 0.0 }, { "disease_id": "DOID:10286", "name": "prostate carcinoma", "description": "A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:10286", "evidence": [ { "id": "10286", "database": "AGR", 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female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:2871", "name": "endometrial carcinoma", "description": "A endometrial cancer that is located_in the tissue lining the uterus.", "url": "https://disease-ontology.org/term/DOID:2871", "evidence": [ { "id": "2871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2871" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:326", "name": "ischemia", 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"A0A8M9PRM2", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PRM2" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 1931, "chemical_mass": 219128.0, "gene_names": "chd4a;chd4a;im:7143343;si:ch211-51m24.3", "protein_name": "", "disease": [ { "disease_id": "DOID:0060058", "name": "lymphoma", "description": "A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.", "url": "https://disease-ontology.org/term/DOID:0060058", "evidence": [ { "id": "0060058", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060058" } ], "weight": 0.0 }, { "disease_id": "DOID:0060480", "name": "left ventricular noncompaction", "description": "An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium.", "url": "https://disease-ontology.org/term/DOID:0060480", "evidence": [ { "id": "0060480", "database": "AGR", 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"molecular_function": [ { "name": "inositol hexakisphosphate kinase activity", "id": "GO:0000828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000828", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PXC2", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PXC2" } ], "pmid": "" }, { "name": "5-diphosphoinositol pentakisphosphate 1-kinase activity", "id": "GO:0033857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033857", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PXC2", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PXC2" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PXC2", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PXC2" } ], "pmid": "" }, { "name": "kinase activity", "id": "GO:0016301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PXC2", "url": 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that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:5679", "name": "retinal disease", "description": "An eye disease that is located_in the retina.", "url": "https://disease-ontology.org/term/DOID:5679", "evidence": [ { "id": "5679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5679" } ], "weight": 0.0 }, { "disease_id": "DOID:8466", "name": "retinal degeneration", "description": "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.", "url": "https://disease-ontology.org/term/DOID:8466", "evidence": [ { "id": "8466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8466" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "phosphatidylinositol-4,5-bisphosphate phospholipase C activity", "id": "GO:0004435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004435", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PL02", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PL02" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PL02", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PL02" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PL02", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PL02" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PL02", "url": 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"species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PL45", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PL45" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 999, "chemical_mass": 111800.0, "gene_names": "ephb2a;ephb2a", "protein_name": "receptor protein-tyrosine kinase", "disease": [ { "disease_id": "DOID:1561", "name": "cognitive disorder", "description": "A disease of mental health that affects cognitive functions including memory processing, perception and problem solving.", "url": "https://disease-ontology.org/term/DOID:1561", "evidence": [ { "id": "1561", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1561" } ], "weight": 0.0 }, { "disease_id": "DOID:2218", "name": "blood platelet disease", "description": "A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction.", "url": "https://disease-ontology.org/term/DOID:2218", "evidence": [ { "id": "2218", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2218" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:9778", "name": "irritable bowel syndrome", "description": "An intestinal disease that is characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause.", "url": "https://disease-ontology.org/term/DOID:9778", "evidence": [ { "id": "9778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9778" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PL45", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PL45" } ], "pmid": "" }, { "name": "ephrin receptor activity", "id": "GO:0005003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005003", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PL45", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PL45" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PL45", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PL45" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PL45", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PL45" } ], "pmid": "" } ], "biological_process": [ { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PL45", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PL45" } ], "pmid": "" }, { "name": "ephrin receptor signaling pathway", "id": "GO:0048013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048013", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PL45", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PL45" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PL45", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PL45" } ], "pmid": "" }, { "name": "convergent extension", "id": "GO:0060026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060026", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PL45", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PL45" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.zebrafish.2" }, { "uniprot_canonical_ac": "A0A8M9PLD4-1", "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PLD4", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PLD4" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "length": 923, "chemical_mass": 102520.0, "gene_names": "prkd2;prkd2", "protein_name": "Serine/threonine-protein kinase", "disease": [ { "disease_id": "DOID:1508", "name": "candidiasis", "description": "An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. 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It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PM39", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PM39" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PM39", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PM39" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PM39", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PM39" } ], "pmid": "" }, { "name": "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity", "id": "GO:0015018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015018", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PM39", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PM39" } ], "pmid": "" } ], "biological_process": [ { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PM39", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PM39" } ], "pmid": "" }, { "name": "chondroitin sulfate proteoglycan biosynthetic process", "id": "GO:0050650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050650", "evidence": [ { "database": "UniProtKB", "id": "A0A8M9PM39", "url": "https://www.uniprot.org/uniprotkb/A0A8M9PM39" } ], "pmid": "" }, { "name": "axon regeneration", "id": "GO:0031103", "url": 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