{ "disease_id": "DOID:0070311", "recommended_name": { "id": "DOID:0070311", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070311", "name": "oligoasthenoteratozoospermia", "description": "A form of male infertility that is characterized by a combination of low number or oligozoospermia, poor motility or asthenozoospermia, and abnormal shape or teratozoospermia of sperms. OAT is the most common cause of male subfertility." }, "synonyms": [ { "id": "DOID:0070311", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070311", "name": "OAT", "description": "" }, { "id": "DOID:0070311", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070311", "name": "oligoasthenoteratospermia", "description": "" } ], "children": [], "id_list": [ "DOID:0070311" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0070311", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070311", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "A2CEH0-1", "uniprot_ac": "A2CEH0", "uniprot_id": "POC1B_DANRE", "refseq_ac": "NP_956412", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "POC1 centriolar protein homolog B", "type": "recommended" }, { "name": "POC1 centriolar protein homolog B", "type": "synonym" }, { "name": "WD repeat domain 51B", "type": "synonym" } ], "gene_names": [ { "name": "poc1b", "type": "recommended" }, { "name": "TUWD12", "type": "synonym" }, { "name": "poc1b", "type": "synonym" }, { "name": "si:dkey-164B12.2", "type": "synonym" }, { "name": "tuwd12", "type": "synonym" }, { "name": "wdr51b", "type": "synonym" }, { "name": "wu:fl36w17", "type": "synonym" }, { "name": "zgc:63538", "type": "synonym" } ], "record_id": "A2CEH0-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "A0A8M1N6M0-1", "uniprot_ac": "A0A8M1N6M0", "uniprot_id": "A0A8M1N6M0_DANRE", "refseq_ac": "NP_001019394", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Max-like protein X", "type": "recommended" }, { "name": "MAX-like protein X", "type": "synonym" }, { "name": "MLX, MAX dimerization protein", "type": "synonym" }, { "name": "Max-like bHLHZip protein", "type": "synonym" }, { "name": "Protein BigMax", "type": "synonym" }, { "name": "Transcription factor-like protein 4", "type": "synonym" }, { "name": "max-like protein X isoform 1", "type": "synonym" } ], "gene_names": [ { "name": "mlx", "type": "recommended" }, { "name": "TF4", "type": "synonym" }, { "name": "im:7146242", "type": "synonym" }, { "name": "mlx", "type": "synonym" }, { "name": "wu:fb61a01", "type": "synonym" }, { "name": "wu:fb99c01", "type": "synonym" }, { "name": "zgc:112409", "type": "synonym" } ], "record_id": "A0A8M1N6M0-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "A0A8M6YU94-1", "uniprot_ac": "A0A8M6YU94", "uniprot_id": "A0A8M6YU94_DANRE", "refseq_ac": "XP_009293268", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Cilia- and flagella-associated protein 61 isoform X1", "type": "synonym" }, { "name": "cilia- and flagella-associated protein 61 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "cfap61", "type": "recommended" }, { "name": "cfap61", "type": "synonym" } ], "record_id": "A0A8M6YU94-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "A0ACD6B6A6-1", "uniprot_ac": "A0ACD6B6A6", "uniprot_id": "A0ACD6B6A6_DANRE", "refseq_ac": "XP_009297485", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Cilia- and flagella-associated protein 70 isoform X1", "type": "synonym" }, { "name": "cilia- and flagella-associated protein 70 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "cfap70", "type": "recommended" }, { "name": "cfap70", "type": "synonym" } ], "record_id": "A0ACD6B6A6-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "F1QTW5-1", "uniprot_ac": "F1QTW5", "uniprot_id": "F1QTW5_DANRE", "refseq_ac": "XP_002663220", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Coiled-coil domain-containing protein 157", "type": "synonym" }, { "name": "coiled-coil domain-containing protein 157", "type": "synonym" } ], "gene_names": [ { "name": "ccdc157", "type": "recommended" }, { "name": "ccdc157", "type": "synonym" } ], "record_id": "F1QTW5-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "A0A8M9QBV1-1", "uniprot_ac": "A0A8M9QBV1", "uniprot_id": "A0A8M9QBV1_DANRE", "refseq_ac": "XP_021337018", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Arf-GAP domain and FG repeat-containing protein 1a isoform X1", "type": "synonym" }, { "name": "arf-GAP domain and FG repeat-containing protein 1a isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "agfg1a", "type": "recommended" }, { "name": "agfg1a", "type": "synonym" }, { "name": "agfg1", "type": "synonym" }, { "name": "hrb", "type": "synonym" }, { "name": "wu:fb14f05", "type": "synonym" }, { "name": "wu:fi19d11", "type": "synonym" } ], "record_id": "A0A8M9QBV1-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "B0UXL9-1", "uniprot_ac": "B0UXL9", "uniprot_id": "B0UXL9_DANRE", "refseq_ac": "NP_956882", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Arf-GAP domain and FG repeat-containing protein 1b", "type": "synonym" }, { "name": "DKEYP-13A3.4", "type": "synonym" }, { "name": "arf-GAP domain and FG repeat-containing protein 1b", "type": "synonym" } ], "gene_names": [ { "name": "agfg1b", "type": "recommended" }, { "name": "agfg1b", "type": "synonym" }, { "name": "zgc:66055", "type": "synonym" } ], "record_id": "B0UXL9-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "F1QGB9-1", "uniprot_ac": "F1QGB9", "uniprot_id": "F1QGB9_DANRE", "refseq_ac": "NP_001071024", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Cilia- and flagella-associated protein 58", "type": "synonym" }, { "name": "cilia- and flagella-associated protein 58", "type": "synonym" }, { "name": "coiled-coil domain containing 147", "type": "synonym" } ], "gene_names": [ { "name": "cfap58", "type": "recommended" }, { "name": "ccdc147", "type": "synonym" }, { "name": "cfap58", "type": "synonym" }, { "name": "zgc:153620", "type": "synonym" } ], "record_id": "F1QGB9-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "A8WGP3-1", "uniprot_ac": "A8WGP3", "uniprot_id": "PP4CA_DANRE", "refseq_ac": "NP_001103884", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Serine/threonine-protein phosphatase 4 catalytic subunit A", "type": "recommended" }, { "name": "3.1.3.16", "type": "synonym" }, { "name": "PP4C-A", "type": "synonym" }, { "name": "protein phosphatase 4 (formerly X), catalytic subunit a", "type": "synonym" }, { "name": "serine/threonine-protein phosphatase 4 catalytic subunit A", "type": "synonym" } ], "gene_names": [ { "name": "ppp4ca", "type": "recommended" }, { "name": "PP4C-A", "type": "synonym" }, { "name": "gc:56413", "type": "synonym" }, { "name": "pp4c", "type": "synonym" }, { "name": "ppp4ca", "type": "synonym" }, { "name": "ppp4c", "type": "synonym" }, { "name": "wu:fd05e08", "type": "synonym" }, { "name": "zgc:56413", "type": "synonym" } ], "record_id": "A8WGP3-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "A9JRC7-1", "uniprot_ac": "A9JRC7", "uniprot_id": "PP4CB_DANRE", "refseq_ac": "NP_001104638", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Serine/threonine-protein phosphatase 4 catalytic subunit B", "type": "recommended" }, { "name": "3.1.3.16", "type": "synonym" }, { "name": "PP4C-B", "type": "synonym" }, { "name": "protein phosphatase 4 (formerly X), catalytic subunit b", "type": "synonym" }, { "name": "serine/threonine-protein phosphatase 4 catalytic subunit B", "type": "synonym" } ], "gene_names": [ { "name": "ppp4cb", "type": "recommended" }, { "name": "PP4C-B", "type": "synonym" }, { "name": "ppp4cb", "type": "synonym" }, { "name": "zgc:172126", "type": "synonym" } ], "record_id": "A9JRC7-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "B2RW38-1", "uniprot_ac": "B2RW38", "uniprot_id": "CFA58_MOUSE", "refseq_ac": "NP_001156739", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Cilia- and flagella-associated protein 58", "type": "recommended" }, { "name": "cilia- and flagella-associated protein 58", "type": "synonym" }, { "name": "coiled-coil domain containing 147", "type": "synonym" } ], "gene_names": [ { "name": "Cfap58", "type": "recommended" }, { "name": "Ccdc147", "type": "synonym" }, { "name": "Cfap58", "type": "synonym" }, { "name": "Gm969", "type": "synonym" } ], "record_id": "B2RW38-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "P97470-1", "uniprot_ac": "P97470", "uniprot_id": "PP4C_MOUSE", "refseq_ac": "NP_062648", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Serine/threonine-protein phosphatase 4 catalytic subunit", "type": "recommended" }, { "name": "3.1.3.16", "type": "synonym" }, { "name": "PP-X", "type": "synonym" }, { "name": "PP4C", "type": "synonym" }, { "name": "Pp4", "type": "synonym" }, { "name": "Protein phosphatase X", "type": "synonym" }, { "name": "protein phosphatase X", "type": "synonym" }, { "name": "serine/threonine-protein phosphatase 4 catalytic subunit", "type": "synonym" } ], "gene_names": [ { "name": "Ppp4c", "type": "recommended" }, { "name": "1110002D08Rik", "type": "synonym" }, { "name": "PP-X", "type": "synonym" }, { "name": "PP4C", "type": "synonym" }, { "name": "Ppp4c", "type": "synonym" }, { "name": "Ppp4", "type": "synonym" }, { "name": "Ppx", "type": "synonym" }, { "name": "pp4", "type": "synonym" } ], "record_id": "P97470-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "Q80YT5-1", "uniprot_ac": "Q80YT5", "uniprot_id": "SPT20_MOUSE", "refseq_ac": "NP_659076", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Spermatogenesis-associated protein 20", "type": "recommended" }, { "name": "Sperm-specific protein 411", "type": "synonym" }, { "name": "Ssp411", "type": "synonym" }, { "name": "Transcript increased in spermiogenesis 78 protein", "type": "synonym" }, { "name": "sperm protein SSP411", "type": "synonym" }, { "name": "sperm-specific protein 411", "type": "synonym" }, { "name": "spermatogenesis-associated protein 20", "type": "synonym" }, { "name": "ssp411", "type": "synonym" }, { "name": "transcript increased in spermiogenesis 78 protein", "type": "synonym" } ], "gene_names": [ { "name": "Spata20", "type": "recommended" }, { "name": "Spata20", "type": "synonym" }, { "name": "Tisp78", "type": "synonym" } ], "record_id": "Q80YT5-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "Q8K2K6-4", "uniprot_ac": "Q8K2K6", "uniprot_id": "AGFG1_MOUSE", "refseq_ac": "NP_001297642", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Arf-GAP domain and FG repeat-containing protein 1", "type": "recommended" }, { "name": "HIV-1 Rev binding protein", "type": "synonym" }, { "name": "HIV-1 Rev-binding protein homolog", "type": "synonym" }, { "name": "Nucleoporin-like protein RIP", "type": "synonym" }, { "name": "arf-GAP domain and FG repeat-containing protein 1 isoform 2", "type": "synonym" }, { "name": "arf-GAP domain and FG repeat-containing protein 1", "type": "synonym" }, { "name": "arf-GAP domain and FG repeats-containing protein 1", "type": "synonym" }, { "name": "nucleoporin-like protein RIP", "type": "synonym" } ], "gene_names": [ { "name": "Agfg1", "type": "recommended" }, { "name": "Agfg1", "type": "synonym" }, { "name": "C130049H11Rik", "type": "synonym" }, { "name": "D730048C23Rik", "type": "synonym" }, { "name": "Hrb", "type": "synonym" }, { "name": "RAB", "type": "synonym" }, { "name": "Rip", "type": "synonym" } ], "record_id": "Q8K2K6-4", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "Q8BHD1-1", "uniprot_ac": "Q8BHD1", "uniprot_id": "POC1B_MOUSE", "refseq_ac": "NP_082016", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "POC1 centriolar protein homolog B", "type": "recommended" }, { "name": "POC1 centriolar protein homolog B", "type": "synonym" }, { "name": "WD repeat domain 51B", "type": "synonym" }, { "name": "WD repeat-containing protein 51B", "type": "synonym" } ], "gene_names": [ { "name": "Poc1b", "type": "recommended" }, { "name": "4933430F16Rik", "type": "synonym" }, { "name": "Poc1b", "type": "synonym" }, { "name": "Wdr51b", "type": "synonym" } ], "record_id": "Q8BHD1-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "D3YVL2-1", "uniprot_ac": "D3YVL2", "uniprot_id": "CFA70_MOUSE", "refseq_ac": "NP_001157111", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Cilia- and flagella-associated protein 70", "type": "recommended" }, { "name": "TPR repeat protein 18", "type": "synonym" }, { "name": "Tetratricopeptide repeat protein 18", "type": "synonym" }, { "name": "cilia- and flagella-associated protein 70 isoform 2", "type": "synonym" }, { "name": "tetratricopeptide repeat domain 18", "type": "synonym" }, { "name": "tetratricopeptide repeat protein 18", "type": "synonym" } ], "gene_names": [ { "name": "Cfap70", "type": "recommended" }, { "name": "Cfap70", "type": "synonym" }, { "name": "Ttc18", "type": "synonym" } ], "record_id": "D3YVL2-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "Q8CEL2-1", "uniprot_ac": "Q8CEL2", "uniprot_id": "CFA61_MOUSE", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Cilia- and flagella-associated protein 61", "type": "recommended" } ], "gene_names": [ { "name": "Cfap61", "type": "recommended" }, { "name": "4930529M08Rik", "type": "synonym" } ], "record_id": "Q8CEL2-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "O08609-1", "uniprot_ac": "O08609", "uniprot_id": "MLX_MOUSE", "refseq_ac": "NP_001152856", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Max-like protein X", "type": "recommended" }, { "name": "BigMax alpha", "type": "synonym" }, { "name": "MAX-like bHLHZIP protein", "type": "synonym" }, { "name": "Max-like bHLHZip protein", "type": "synonym" }, { "name": "Protein BigMax", "type": "synonym" }, { "name": "Transcription factor-like protein 4", "type": "synonym" }, { "name": "max-like protein X isoform alpha", "type": "synonym" }, { "name": "protein BigMax", "type": "synonym" }, { "name": "transcription factor-like 4", "type": "synonym" }, { "name": "transcription factor-like protein 4", "type": "synonym" } ], "gene_names": [ { "name": "Mlx", "type": "recommended" }, { "name": "Mlx", "type": "synonym" }, { "name": "Tcfl4", "type": "synonym" }, { "name": "Tf4", "type": "synonym" }, { "name": "bHLHd13", "type": "synonym" } ], "record_id": "O08609-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "Q5SPX1-1", "uniprot_ac": "Q5SPX1", "uniprot_id": "CC157_MOUSE", "refseq_ac": "NP_001158092", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Coiled-coil domain-containing protein 157", "type": "recommended" }, { "name": "coiled-coil domain-containing protein 157 isoform 1", "type": "synonym" }, { "name": "coiled-coil domain-containing protein 157", "type": "synonym" } ], "gene_names": [ { "name": "Ccdc157", "type": "recommended" }, { "name": "4930562D19Rik", "type": "synonym" }, { "name": "Ccdc157", "type": "synonym" }, { "name": "Kiaa1656", "type": "synonym" }, { "name": "mKIAA1656", "type": "synonym" } ], "record_id": "Q5SPX1-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "P32345-1", "uniprot_ac": "P32345", "uniprot_id": "PP4C_YEAST", "refseq_ac": "NP_010360", "glycoprotein": "no", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "Serine/threonine-protein phosphatase 4 catalytic subunit", "type": "recommended" }, { "name": "3.1.3.16", "type": "synonym" }, { "name": "PP4C", "type": "synonym" }, { "name": "Phosphatase PP2A-like catalytic subunit PPH3", "type": "synonym" }, { "name": "phosphoprotein phosphatase PP4 catalytic subunit PPH3", "type": "synonym" } ], "gene_names": [ { "name": "PPH3", "type": "recommended" }, { "name": "D4421", "type": "synonym" }, { "name": "PPH3", "type": "synonym" } ], "record_id": "P32345-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "A0A0G2K6K2-1", "uniprot_ac": "A0A0G2K6K2", "uniprot_id": "A0A0G2K6K2_RAT", "refseq_ac": "NP_001000575", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Olfactory receptor", "type": "recommended" }, { "name": "olfactory receptor 741", "type": "synonym" }, { "name": "olfactory receptor Olr741-like", "type": "synonym" }, { "name": "olfactory receptor Olr741", "type": "synonym" }, { "name": "olfactory receptor gene Olr741", "type": "synonym" } ], "gene_names": [ { "name": "Or4b1", "type": "recommended" }, { "name": "Olr741", "type": "synonym" }, { "name": "Or4b1", "type": "synonym" } ], "record_id": "A0A0G2K6K2-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "D3ZW91-1", "uniprot_ac": "D3ZW91", "uniprot_id": "POC1B_RAT", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "POC1 centriolar protein homolog B", "type": "recommended" }, { "name": "WD repeat-containing protein 51B", "type": "synonym" } ], "gene_names": [ { "name": "Poc1b", "type": "recommended" }, { "name": "Wdr51b", "type": "synonym" } ], "record_id": "D3ZW91-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "F7F8B8-1", "uniprot_ac": "F7F8B8", "uniprot_id": "F7F8B8_RAT", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Max-like protein X", "type": "recommended" }, { "name": "Max-like bHLHZip protein", "type": "synonym" }, { "name": "Protein BigMax", "type": "synonym" }, { "name": "Transcription factor-like protein 4", "type": "synonym" } ], "gene_names": [ { "name": "Mlx", "type": "recommended" } ], "record_id": "F7F8B8-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "A0A8I6AH20-1", "uniprot_ac": "A0A8I6AH20", "uniprot_id": "A0A8I6AH20_RAT", "refseq_ac": "XP_006251729", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Cilia and flagella associated protein 70", "type": "synonym" }, { "name": "cilia- and flagella-associated protein 70 isoform X3", "type": "synonym" } ], "gene_names": [ { "name": "Cfap70", "type": "recommended" }, { "name": "Cfap70", "type": "synonym" }, { "name": "Ttc18", "type": "synonym" } ], "record_id": "A0A8I6AH20-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "A0A8I6AWP1-1", "uniprot_ac": "A0A8I6AWP1", "uniprot_id": "A0A8I6AWP1_RAT", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Cilia and flagella associated protein 61", "type": "synonym" } ], "gene_names": [ { "name": "AABR07054096.1", "type": "recommended" }, { "name": "Cfap61", "type": "recommended" }, { "name": "AABR07054096.1", "type": "synonym" }, { "name": "Cfap61", "type": "synonym" } ], "record_id": "A0A8I6AWP1-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "Q4KLH5-1", "uniprot_ac": "Q4KLH5", "uniprot_id": "AGFG1_RAT", "refseq_ac": "NP_001129068", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Arf-GAP domain and FG repeat-containing protein 1", "type": "recommended" }, { "name": "HIV-1 Rev-binding protein homolog", "type": "synonym" }, { "name": "Nucleoporin-like protein RIP", "type": "synonym" }, { "name": "arf-GAP domain and FG repeat-containing protein 1", "type": "synonym" }, { "name": "arf-GAP domain and FG repeats-containing protein 1", "type": "synonym" }, { "name": "nucleoporin-like protein RIP", "type": "synonym" } ], "gene_names": [ { "name": "Agfg1", "type": "recommended" }, { "name": "Agfg1-ps1", "type": "synonym" }, { "name": "Agfg1", "type": "synonym" }, { "name": "Hrb", "type": "synonym" }, { "name": "Rip", "type": "synonym" } ], "record_id": "Q4KLH5-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "A0ABK0LQI7-1", "uniprot_ac": "A0ABK0LQI7", "uniprot_id": "A0ABK0LQI7_RAT", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Coiled-coil domain containing 157", "type": "synonym" } ], "gene_names": [ { "name": "Ccdc157", "type": "recommended" } ], "record_id": "A0ABK0LQI7-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "Q5BJ92-1", "uniprot_ac": "Q5BJ92", "uniprot_id": "PP4C_RAT", "refseq_ac": "NP_599186", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Serine/threonine-protein phosphatase 4 catalytic subunit", "type": "recommended" }, { "name": "3.1.3.16", "type": "synonym" }, { "name": "PP4C", "type": "synonym" }, { "name": "Pp4", "type": "synonym" }, { "name": "pp4", "type": "synonym" }, { "name": "protein phosphatase 4 (formerly X), catalytic subunit", "type": "synonym" }, { "name": "serine/threonine-protein phosphatase 4 catalytic subunit isoform 1", "type": "synonym" }, { "name": "serine/threonine-protein phosphatase 4 catalytic subunit", "type": "synonym" } ], "gene_names": [ { "name": "Ppp4c", "type": "recommended" }, { "name": "Ppp4c", "type": "synonym" }, { "name": "Ppx", "type": "synonym" } ], "record_id": "Q5BJ92-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "Q6T393-1", "uniprot_ac": "Q6T393", "uniprot_id": "SPT20_RAT", "refseq_ac": "NP_955434", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Spermatogenesis-associated protein 20", "type": "recommended" }, { "name": "Sperm-specific protein 411", "type": "synonym" }, { "name": "Ssp411", "type": "synonym" }, { "name": "sperm protein SSP411", "type": "synonym" }, { "name": "sperm-specific protein 411", "type": "synonym" }, { "name": "spermatogenesis-associated protein 20", "type": "synonym" } ], "gene_names": [ { "name": "Spata20", "type": "recommended" }, { "name": "Spata20", "type": "synonym" }, { "name": "Ssp411", "type": "synonym" } ], "record_id": "Q6T393-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "A0A096MJJ4-1", "uniprot_ac": "A0A096MJJ4", "uniprot_id": "A0A096MJJ4_RAT", "refseq_ac": "NP_001407019", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Cilia and flagella associated protein 58", "type": "synonym" }, { "name": "cilia and flagella associated protein 58-like 1", "type": "synonym" }, { "name": "cilia- and flagella-associated protein 58", "type": "synonym" }, { "name": "coiled-coil domain containing 147", "type": "synonym" }, { "name": "coiled-coil domain-containing protein 147-like", "type": "synonym" } ], "gene_names": [ { "name": "Cfap58", "type": "recommended" }, { "name": "Ccdc147", "type": "synonym" }, { "name": "Cfap58l1", "type": "synonym" }, { "name": "Cfap58", "type": "synonym" }, { "name": "RGD1307961", "type": "synonym" } ], "record_id": "A0A096MJJ4-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "Q9VKG0-1", "uniprot_ac": "Q9VKG0", "uniprot_id": "Q9VKG0_DROME", "refseq_ac": "NP_001285845", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG6614-PC", "type": "synonym" }, { "name": "Uncharacterized protein", "type": "synonym" }, { "name": "uncharacterized protein, isoform C", "type": "synonym" } ], "gene_names": [ { "name": "Dmel\\CG6614", "type": "recommended" }, { "name": "CG6614", "type": "synonym" }, { "name": "Dmel\\CG6614", "type": "synonym" }, { "name": "Dmel_CG6614", "type": "synonym" } ], "record_id": "Q9VKG0-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "E1JHR0-1", "uniprot_ac": "E1JHR0", "uniprot_id": "E1JHR0_DROME", "refseq_ac": "NP_001162848", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG3365-PF", "type": "synonym" }, { "name": "Drongo, isoform F", "type": "synonym" }, { "name": "drongo, isoform F", "type": "synonym" }, { "name": "drongo-PF", "type": "synonym" } ], "gene_names": [ { "name": "drongo", "type": "recommended" }, { "name": "CG3365", "type": "synonym" }, { "name": "DRONGO", "type": "synonym" }, { "name": "Dmel\\CG3365", "type": "synonym" }, { "name": "Dmel_CG3365", "type": "synonym" }, { "name": "drongo", "type": "synonym" } ], "record_id": "E1JHR0-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "Q9VB47-1", "uniprot_ac": "Q9VB47", "uniprot_id": "Q9VB47_DROME", "refseq_ac": "NP_651556", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Bigmax", "type": "synonym" }, { "name": "CG3350-PA", "type": "synonym" }, { "name": "Max-like protein X", "type": "synonym" }, { "name": "big max", "type": "synonym" }, { "name": "bigmax-PA", "type": "synonym" }, { "name": "bigmax", "type": "synonym" } ], "gene_names": [ { "name": "bigmax", "type": "recommended" }, { "name": "BIGMAX", "type": "synonym" }, { "name": "Bigmax", "type": "synonym" }, { "name": "CG3350", "type": "synonym" }, { "name": "DmMlx", "type": "synonym" }, { "name": "Dmel\\CG3350", "type": "synonym" }, { "name": "Dmel_CG3350", "type": "synonym" }, { "name": "Mlx", "type": "synonym" }, { "name": "bHLHd13", "type": "synonym" }, { "name": "bigmax", "type": "synonym" }, { "name": "cg3350", "type": "synonym" }, { "name": "mlx", "type": "synonym" } ], "record_id": "Q9VB47-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "Q9W206-1", "uniprot_ac": "Q9W206", "uniprot_id": "Q9W206_DROME", "refseq_ac": "NP_611712", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG30268-PB", "type": "synonym" }, { "name": "Uncharacterized protein", "type": "synonym" }, { "name": "uncharacterized protein", "type": "synonym" } ], "gene_names": [ { "name": "CG13520", "type": "recommended" }, { "name": "CG13520", "type": "synonym" }, { "name": "CG30268", "type": "synonym" }, { "name": "Dmel\\CG30268", "type": "synonym" }, { "name": "Dmel_CG30268", "type": "synonym" } ], "record_id": "Q9W206-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "Q9VU65-1", "uniprot_ac": "Q9VU65", "uniprot_id": "POC1_DROME", "refseq_ac": "NP_648640", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "POC1 centriolar protein homolog", "type": "recommended" }, { "name": "CG10191-PA", "type": "synonym" }, { "name": "Poc1-PA", "type": "synonym" }, { "name": "Proteome of centrioles 1", "type": "synonym" }, { "name": "proteome of centrioles 1, isoform A", "type": "synonym" } ], "gene_names": [ { "name": "Poc1", "type": "recommended" }, { "name": "CG10191", "type": "synonym" }, { "name": "Dmel\\CG10191", "type": "synonym" }, { "name": "Dmel_CG10191", "type": "synonym" }, { "name": "POC1", "type": "synonym" }, { "name": "Pix", "type": "synonym" }, { "name": "Poc1", "type": "synonym" }, { "name": "poc1", "type": "synonym" } ], "record_id": "Q9VU65-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "Q7KVK5-1", "uniprot_ac": "Q7KVK5", "uniprot_id": "Q7KVK5_DROME", "refseq_ac": "NP_788430", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG30275-PM", "type": "synonym" }, { "name": "Uncharacterized protein", "type": "synonym" }, { "name": "uncharacterized protein, isoform M", "type": "synonym" } ], "gene_names": [ { "name": "CG13520", "type": "recommended" }, { "name": "CG13520", "type": "synonym" }, { "name": "CG30275", "type": "synonym" }, { "name": "Dmel\\CG30275", "type": "synonym" }, { "name": "Dmel_CG30275", "type": "synonym" } ], "record_id": "Q7KVK5-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "O76932-1", "uniprot_ac": "O76932", "uniprot_id": "PP4C_DROME", "refseq_ac": "NP_001285489", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Serine/threonine-protein phosphatase 4 catalytic subunit", "type": "recommended" }, { "name": "3.1.3.16", "type": "synonym" }, { "name": "CG32505-PH", "type": "synonym" }, { "name": "PP4C", "type": "synonym" }, { "name": "Pp4-19C-PH", "type": "synonym" }, { "name": "phosphoprotein phosphatase 4", "type": "synonym" }, { "name": "protein phosphatase 19C, isoform H", "type": "synonym" }, { "name": "protein phosphatase 1", "type": "synonym" }, { "name": "protein phosphatase 4", "type": "synonym" }, { "name": "protein phosphatase X", "type": "synonym" } ], "gene_names": [ { "name": "Pp4-19C", "type": "recommended" }, { "name": "CG1459", "type": "synonym" }, { "name": "CG1596", "type": "synonym" }, { "name": "CG18339", "type": "synonym" }, { "name": "CG32505", "type": "synonym" }, { "name": "DmPpp4-19C", "type": "synonym" }, { "name": "Dmel\\CG32505", "type": "synonym" }, { "name": "Dmel_CG32505", "type": "synonym" }, { "name": "PP1", "type": "synonym" }, { "name": "PP4 19C", "type": "synonym" }, { "name": "PP4-19C", "type": "synonym" }, { "name": "PP4-19c", "type": "synonym" }, { "name": "PP4-1", "type": "synonym" }, { "name": "PP4C", "type": "synonym" }, { "name": "PP4c", "type": "synonym" }, { "name": "PP4", "type": "synonym" }, { "name": "PPP4c", "type": "synonym" }, { "name": "PPX", "type": "synonym" }, { "name": "Pp4-19C", "type": "synonym" }, { "name": "Pp4-19c", "type": "synonym" }, { "name": "PpX", "type": "synonym" }, { "name": "Ppp4c", "type": "synonym" }, { "name": "dPP4", "type": "synonym" }, { "name": "pp4", "type": "synonym" } ], "record_id": "O76932-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "Q9VB72-1", "uniprot_ac": "Q9VB72", "uniprot_id": "Q9VB72_DROME", "refseq_ac": "NP_651540", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Cilia- and flagella-associated protein 58 central coiled coil domain-containing protein", "type": 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"uncharacterized protein", "type": "synonym" } ], "gene_names": [ { "name": "Dmel\\CG6059", "type": "recommended" }, { "name": "CG6059", "type": "synonym" }, { "name": "Dmel\\CG6059", "type": "synonym" }, { "name": "Dmel_CG6059", "type": "synonym" } ], "record_id": "Q9VB71-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "Q5T0N1-1", "uniprot_ac": "Q5T0N1", "uniprot_id": "CFA70_HUMAN", "refseq_ac": "XP_006717667", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Cilia- and flagella-associated protein 70", "type": "recommended" }, { "name": "TPR repeat protein 18", "type": "synonym" }, { "name": "Tetratricopeptide repeat protein 18", "type": "synonym" }, { "name": "cilia- and flagella-associated protein 70 isoform X4", "type": "synonym" } ], "gene_names": [ { "name": "CFAP70", "type": "recommended" }, { "name": "CFAP70", "type": "synonym" }, { "name": "SPGF41", "type": "synonym" }, { "name": "TTC18", "type": "synonym" } ], "record_id": "Q5T0N1-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "Q9UH92-1", "uniprot_ac": "Q9UH92", "uniprot_id": "MLX_HUMAN", "refseq_ac": "NP_733752", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Max-like protein X", "type": "recommended" }, { "name": "BigMax protein", "type": "synonym" }, { "name": "Class D basic helix-loop-helix protein 13", "type": "synonym" }, { "name": "MAX-like bHLHZIP protein", "type": "synonym" }, { "name": "MAX-like protein X", "type": "synonym" }, { "name": "MLX, MAX dimerization protein", "type": "synonym" }, { "name": "Max-like bHLHZip protein", "type": "synonym" }, { "name": "Protein BigMax", "type": "synonym" }, { "name": "Transcription factor-like protein 4", "type": "synonym" }, { "name": "bHLHd13", "type": "synonym" }, { "name": "class D basic helix-loop-helix protein 13", "type": "synonym" }, { "name": "max-like protein X isoform gamma", "type": "synonym" }, { "name": "transcription factor-like protein 4", "type": "synonym" } ], "gene_names": [ { "name": "MLX", "type": "recommended" }, { "name": "BHLHD13", "type": "synonym" }, { "name": "MAD7", "type": "synonym" }, { "name": "MLX", "type": "synonym" }, { "name": "MXD7", "type": "synonym" }, { "name": "TCFL4", "type": "synonym" }, { "name": "TF4", "type": "synonym" }, { "name": "bHLHd13", "type": "synonym" } ], "record_id": "Q9UH92-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "Q569K6-1", "uniprot_ac": "Q569K6", "uniprot_id": "CC157_HUMAN", "refseq_ac": "NP_001017437", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Coiled-coil domain-containing protein 157", "type": "recommended" }, { "name": "coiled-coil domain-containing protein 157 isoform 1", "type": "synonym" }, { "name": "coiled-coil domain-containing protein 157", "type": "synonym" } ], "gene_names": [ { "name": "CCDC157", "type": "recommended" }, { "name": "CCDC157", "type": "synonym" }, { "name": "KIAA1656", "type": "synonym" } ], "record_id": "Q569K6-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "Q8NHU2-1", "uniprot_ac": "Q8NHU2", "uniprot_id": "CFA61_HUMAN", "refseq_ac": "NP_001161288", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Cilia- and flagella-associated protein 61", "type": "recommended" }, { "name": "cilia- and flagella-associated protein 61 isoform 2", "type": "synonym" } ], "gene_names": [ { "name": "CFAP61", "type": "recommended" }, { "name": "C20orf26", "type": "synonym" }, { "name": "CFAP61", "type": "synonym" }, { "name": "CaM-IP3", "type": "synonym" }, { "name": "SPGF84", "type": "synonym" }, { "name": "dJ1002M8.3", "type": "synonym" }, { "name": "dJ1178H5.4", "type": "synonym" } ], "record_id": "Q8NHU2-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "Q8TC44-1", "uniprot_ac": "Q8TC44", "uniprot_id": "POC1B_HUMAN", "refseq_ac": "NP_001186706", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "POC1 centriolar protein homolog B", "type": "recommended" }, { "name": "POC1 centriolar protein homolog B isoform b", "type": "synonym" }, { "name": "POC1 centriolar protein homolog B", "type": "synonym" }, { "name": "Pix1", "type": "synonym" }, { "name": "Proteome of centriole protein 1B", "type": "synonym" }, { "name": "WD repeat-containing protein 51B", "type": "synonym" }, { "name": "proteome of centriole protein 1B", "type": "synonym" } ], "gene_names": [ { "name": "POC1B", "type": "recommended" }, { "name": "CORD20", "type": "synonym" }, { "name": "PIX1", "type": "synonym" }, { "name": "POC1B", "type": "synonym" }, { "name": "TUWD12", "type": "synonym" }, { "name": "WDR51B", "type": "synonym" } ], "record_id": "Q8TC44-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "P52594-1", "uniprot_ac": "P52594", "uniprot_id": "AGFG1_HUMAN", 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"nucleoporin-like protein RIP", "type": "synonym" }, { "name": "rev-interacting protein", "type": "synonym" }, { "name": "rev/Rex activation domain-binding protein", "type": "synonym" } ], "gene_names": [ { "name": "AGFG1", "type": "recommended" }, { "name": "AGFG1", "type": "synonym" }, { "name": "HRB", "type": "synonym" }, { "name": "RAB", "type": "synonym" }, { "name": "RIP", "type": "synonym" } ], "record_id": "P52594-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "Q8TB22-1", "uniprot_ac": "Q8TB22", "uniprot_id": "SPT20_HUMAN", "refseq_ac": "NP_001245301", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Spermatogenesis-associated protein 20", "type": "recommended" }, { "name": "Sperm-specific protein 411", "type": "synonym" }, { "name": "Ssp411", "type": "synonym" }, { "name": "epididymis secretory protein Li 98", "type": "synonym" }, { "name": "sperm protein SSP411", "type": "synonym" }, { "name": "sperm-specific protein 411", "type": "synonym" }, { "name": "spermatogenesis-associated protein 20 isoform 2 precursor", "type": "synonym" }, { "name": "spermatogenesis-associated protein 20", "type": "synonym" }, { "name": "transcript increased in spermiogenesis 78", "type": "synonym" } ], "gene_names": [ { "name": "SPATA20", "type": "recommended" }, { "name": "HEL-S-98", "type": "synonym" }, { "name": "SPATA20", "type": "synonym" }, { "name": "SSP411", "type": "synonym" }, { "name": "Tisp78", "type": "synonym" } ], "record_id": "Q8TB22-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "P60510-1", "uniprot_ac": "P60510", "uniprot_id": "PP4C_HUMAN", "refseq_ac": "NP_001290432", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Serine/threonine-protein phosphatase 4 catalytic subunit", "type": "recommended" }, { "name": "3.1.3.16", "type": "synonym" }, { "name": "PP-X", "type": "synonym" }, { "name": "PP4C", "type": "synonym" }, { "name": "Pp4", "type": "synonym" }, { "name": "Protein phosphatase X", "type": "synonym" }, { "name": "epididymis secretory sperm binding protein", "type": "synonym" }, { "name": "protein phosphatase 4 (formerly X), catalytic subunit", "type": "synonym" }, { "name": "protein phosphatase X, catalytic subunit", "type": "synonym" }, { "name": "serine/threonine-protein phosphatase 4 catalytic subunit isoform 1", "type": "synonym" }, { "name": "serine/threonine-protein phosphatase 4 catalytic subunit", "type": "synonym" } ], "gene_names": [ { "name": "PPP4C", "type": "recommended" }, { "name": "PP-X", "type": "synonym" }, { "name": "PP4C", "type": "synonym" }, { "name": "PP4", "type": "synonym" }, { "name": "PPH3", "type": "synonym" }, { "name": "PPP4C", "type": "synonym" }, { "name": "PPP4", "type": "synonym" }, { "name": "PPX", "type": "synonym" } ], "record_id": "P60510-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] }, { "uniprot_canonical_ac": "Q5T655-1", "uniprot_ac": "Q5T655", "uniprot_id": "CFA58_HUMAN", "refseq_ac": "NP_001008723", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Cilia- and flagella-associated protein 58", "type": "recommended" }, { "name": "Coiled-coil domain-containing protein 147", "type": "synonym" }, { "name": "cilia- and flagella-associated protein 58 isoform 1", "type": "synonym" }, { "name": "coiled-coil domain containing 147", "type": "synonym" }, { "name": "coiled-coil domain-containing protein 147", "type": "synonym" } ], "gene_names": [ { "name": "CFAP58", "type": "recommended" }, { "name": "C10orf80", "type": "synonym" }, { "name": "CCDC147", "type": "synonym" }, { "name": "CFAP58", "type": "synonym" }, { "name": "SPGF49", "type": "synonym" }, { "name": "bA127L20.4", "type": "synonym" }, { "name": "bA127L20.5", "type": "synonym" }, { "name": "bA554P13.1", "type": "synonym" } ], "record_id": "Q5T655-1", "evidence": [ { "id": "0070311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070311" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0070311" }