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"type": "synonym" }, { "name": "TRPP2", "type": "synonym" }, { "name": "Transient receptor potential cation channel subfamily P member 2", "type": "synonym" }, { "name": "cup", "type": "synonym" }, { "name": "curly up", "type": "synonym" }, { "name": "polycystic kidney disease 2 protein homolog", "type": "synonym" }, { "name": "polycystin-2", "type": "synonym" }, { "name": "transient receptor potential cation channel subfamily P member 2", "type": "synonym" } ], "gene_names": [ { "name": "pkd2", "type": "recommended" }, { "name": "pkd2", "type": "synonym" } ], "record_id": "Q6IVV8-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "E7EXH4-1", "uniprot_ac": "E7EXH4", "uniprot_id": "E7EXH4_DANRE", "refseq_ac": "NP_001070934", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio 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"si:ch211-276k2.4", "type": "synonym" }, { "name": "tctex1d2", "type": "synonym" } ], "record_id": "F1QMY1-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "X1WC30-1", "uniprot_ac": "X1WC30", "uniprot_id": "X1WC30_DANRE", "refseq_ac": "XP_692102", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Protein moonraker isoform X1", "type": "synonym" }, { "name": "protein moonraker isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "si:dkey-243i1.1", "type": "recommended" }, { "name": "si:dkey-243i1.1", "type": "synonym" } ], "record_id": "X1WC30-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "A3QK09-1", "uniprot_ac": "A3QK09", "uniprot_id": "A3QK09_DANRE", "refseq_ac": "NP_001070841", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Meckel syndrome, type 1", "type": "synonym" }, { "name": "Tectonic-like complex member MKS1", "type": "synonym" }, { "name": "tectonic-like complex member MKS1", "type": "synonym" } ], "gene_names": [ { "name": "mks1", "type": "recommended" }, { "name": "fc54h05", "type": "synonym" }, { "name": "mks1", "type": "synonym" }, { "name": "si:dkey-189h5.2", "type": "synonym" }, { "name": "wu:fc54h05", "type": "synonym" }, { "name": "zgc:153149", "type": "synonym" } ], "record_id": "A3QK09-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "A0A0R4IRF0-1", "uniprot_ac": "A0A0R4IRF0", "uniprot_id": "A0A0R4IRF0_DANRE", 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"synonym" }, { "name": "molecular chaperone MKKS isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "mkks", "type": "recommended" }, { "name": "bbs6", "type": "synonym" }, { "name": "mkks", "type": "synonym" }, { "name": "zgc:55608", "type": "synonym" } ], "record_id": "A0A8M9QNB5-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q8UVJ6-1", "uniprot_ac": "Q8UVJ6", "uniprot_id": "VANG2_DANRE", "refseq_ac": "NP_705960", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Vang-like protein 2", "type": "recommended" }, { "name": "Protein strabismus", "type": "synonym" }, { "name": "Protein trilobite", "type": "synonym" }, { "name": "Van Gogh-like protein 2", "type": "synonym" }, { "name": "protein strabismus", "type": "synonym" }, { "name": "protein trilobite", "type": "synonym" }, { "name": "strabismus", "type": "synonym" }, { "name": "trilobite", "type": "synonym" }, { "name": "van Gogh-like protein 2", "type": "synonym" }, { "name": "vang-like 2 (van gogh, Drosophila)", "type": "synonym" }, { "name": "vang-like protein 2", "type": "synonym" } ], "gene_names": [ { "name": "vangl2", "type": "recommended" }, { "name": "stbm", "type": "synonym" }, { "name": "tri", "type": "synonym" }, { "name": "vangl2", "type": "synonym" }, { "name": "vang", "type": "synonym" } ], "record_id": "Q8UVJ6-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q7ZVS3-1", "uniprot_ac": "Q7ZVS3", "uniprot_id": "PLK4_DANRE", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Serine/threonine-protein kinase PLK4", "type": "recommended" }, { "name": "2.7.11.21", "type": "synonym" }, { "name": "PLK-4", "type": "synonym" }, { "name": "Polo-like kinase 4", "type": "synonym" }, { "name": "Serine/threonine-protein kinase Sak", "type": "synonym" } ], "gene_names": [ { "name": "plk4", "type": "recommended" }, { "name": "sak", "type": "synonym" }, { "name": "stk18", "type": "synonym" }, { "name": "wu:fi33g07", "type": "synonym" } ], "record_id": "Q7ZVS3-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "A0A8M3AJU9-1", "uniprot_ac": "A0A8M3AJU9", "uniprot_id": "A0A8M3AJU9_DANRE", "refseq_ac": "XP_009291338", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Mitogen-activated protein kinase kinase kinase kinase", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "mitogen-activated protein kinase kinase kinase kinase 3 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "map4k3b", "type": "recommended" }, { "name": "map4k3b", "type": "synonym" } ], "record_id": "A0A8M3AJU9-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "A0A8M9QA20-1", "uniprot_ac": "A0A8M9QA20", "uniprot_id": "A0A8M9QA20_DANRE", "refseq_ac": "XP_021334094", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Nephrocystin-4 isoform X1", "type": "synonym" }, { "name": "nephrocystin-4 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "nphp4", "type": "recommended" }, { "name": "nphp4", "type": "synonym" } ], "record_id": "A0A8M9QA20-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "A0AC58H0N0-1", "uniprot_ac": "A0AC58H0N0", "uniprot_id": "A0AC58H0N0_DANRE", "refseq_ac": "XP_073775545", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "cGMP-dependent protein kinase", "type": "recommended" }, { "name": "2.7.11.12", "type": "synonym" }, { "name": "cGMP-dependent protein kinase 1a isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "prkg1a", "type": "recommended" }, { "name": "prkg1a", "type": "synonym" }, { "name": "prkg1", "type": "synonym" }, { "name": "zgc:63955", "type": "synonym" } ], "record_id": "A0AC58H0N0-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "A0AB32TJB3-1", "uniprot_ac": "A0AB32TJB3", "uniprot_id": "A0AB32TJB3_DANRE", "refseq_ac": "XP_073798201", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Protein fantom isoform X1", "type": "synonym" }, { "name": "protein fantom isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "rpgrip1l", "type": "recommended" }, { "name": "rpgrip1l", "type": "synonym" }, { "name": "si:ch1073-301i20.1", "type": "synonym" } ], "record_id": "A0AB32TJB3-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q6DGZ1-1", "uniprot_ac": "Q6DGZ1", "uniprot_id": "B9D2_DANRE", "refseq_ac": "NP_001002394", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "B9 domain-containing protein 2", "type": "recommended" }, { "name": "B9 domain-containing protein 2", "type": "synonym" }, { "name": "B9 protein domain 2", "type": "synonym" } ], "gene_names": [ { "name": "b9d2", "type": "recommended" }, { "name": "b9d2", "type": "synonym" }, { "name": "zgc:92713", "type": "synonym" } ], "record_id": "Q6DGZ1-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "A0AC58ITH0-1", "uniprot_ac": "A0AC58ITH0", "uniprot_id": "A0AC58ITH0_DANRE", "refseq_ac": "XP_073797520", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Protein fantom isoform X1", "type": "synonym" }, { "name": "protein fantom isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "rpgrip1", "type": "recommended" }, { "name": "rpgrip1", "type": "synonym" } ], "record_id": "A0AC58ITH0-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q5M9P8-1", "uniprot_ac": "Q5M9P8", "uniprot_id": "ARL6_DANRE", "refseq_ac": "NP_001008733", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "ADP-ribosylation factor-like protein 6", "type": "recommended" }, { "name": "ADP-ribosylation factor-like 6", "type": "synonym" }, { "name": "ADP-ribosylation factor-like protein 6", "type": "synonym" }, { "name": "bbs3", "type": "synonym" } ], "gene_names": [ { "name": "arl6", "type": "recommended" }, { "name": "arl6", "type": "synonym" }, { "name": "si:dkey-24h22.2", "type": "synonym" }, { "name": "zgc:101762", "type": "synonym" } ], "record_id": "Q5M9P8-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q503B7-1", "uniprot_ac": "Q503B7", "uniprot_id": "B9D1_DANRE", "refseq_ac": "NP_001019544", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "B9 domain-containing protein 1", "type": "recommended" }, { "name": "B9 domain-containing protein 1", "type": "synonym" } ], "gene_names": [ { "name": "b9d1", "type": "recommended" }, { "name": "b9d1", "type": "synonym" }, { "name": "im:6905750", "type": "synonym" }, { "name": "im:7069491", "type": "synonym" }, { "name": "wu:fc09g07", "type": "synonym" }, { "name": "zgc:110733", "type": "synonym" } ], "record_id": "Q503B7-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q6IVW0-1", "uniprot_ac": "Q6IVW0", "uniprot_id": "IFT57_DANRE", "refseq_ac": "NP_001001832", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Intraflagellar transport protein 57 homolog", "type": "recommended" }, { "name": "axonemal transport protein", "type": "synonym" }, { "name": "curly", "type": "synonym" }, { "name": "intraflagellar transport protein 57 homolog", "type": "synonym" } ], "gene_names": [ { "name": "ift57", "type": "recommended" }, { "name": "hippi", "type": "synonym" }, { "name": "ift57", "type": "synonym" }, { "name": "zgc:111831", "type": "synonym" } ], "record_id": "Q6IVW0-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "A0AB32U0S1-1", "uniprot_ac": "A0AB32U0S1", "uniprot_id": "A0AB32U0S1_DANRE", "refseq_ac": "XP_068080465", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Mitogen-activated protein kinase kinase kinase kinase", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "mitogen-activated protein kinase kinase kinase kinase 3 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "map4k3a", "type": "recommended" }, { "name": "map4k3a", "type": "synonym" } ], "record_id": "A0AB32U0S1-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q7ZWB7-1", "uniprot_ac": "Q7ZWB7", "uniprot_id": "BBS5_DANRE", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "BBSome complex member BBS5", "type": "recommended" }, { "name": "Bardet-Biedl syndrome 5 protein homolog", "type": "synonym" } ], "gene_names": [ { "name": "bbs5", "type": "recommended" }, { "name": "zgc:56578", "type": "synonym" } ], "record_id": "Q7ZWB7-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "A0A8M9Q9K2-1", "uniprot_ac": "A0A8M9Q9K2", "uniprot_id": "A0A8M9Q9K2_DANRE", "refseq_ac": "XP_021336201", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Mitogen-activated protein kinase kinase kinase kinase", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "mitogen-activated protein kinase kinase kinase kinase 5 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "map4k5", "type": "recommended" }, { "name": "fl74c10", "type": "synonym" }, { "name": "map4k5", "type": "synonym" }, { "name": "wu:fl74c10", "type": "synonym" }, { "name": "zgc:55719", "type": "synonym" }, { "name": "zgc:55985", "type": "synonym" } ], "record_id": "A0A8M9Q9K2-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "A0AC58INI6-1", "uniprot_ac": "A0AC58INI6", "uniprot_id": "A0AC58INI6_DANRE", "refseq_ac": "XP_073795759", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Coiled-coil and C2 domain-containing protein 2A isoform X1", "type": "synonym" }, { "name": "coiled-coil and C2 domain-containing protein 2A isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "cc2d2a", "type": "recommended" }, { "name": "cc2d2a", "type": "synonym" } ], "record_id": "A0AC58INI6-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "A0A8M6Z2D7-1", "uniprot_ac": "A0A8M6Z2D7", "uniprot_id": "A0A8M6Z2D7_DANRE", "refseq_ac": "XP_017213035", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "cGMP-dependent protein kinase", "type": "recommended" }, { "name": "2.7.11.12", "type": "synonym" }, { "name": "cGMP-dependent protein kinase 1 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "prkg1l", "type": "recommended" }, { "name": "prkg1l", "type": "synonym" } ], "record_id": "A0A8M6Z2D7-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "F1QEB7-1", "uniprot_ac": "F1QEB7", "uniprot_id": "WDR11_DANRE", "refseq_ac": "NP_001410892", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "WD repeat-containing protein 11", "type": "recommended" }, { "name": "WD repeat-containing protein 11", "type": "synonym" } ], "gene_names": [ { "name": "wdr11", "type": "recommended" }, { "name": "si:ch211-233m11.6", "type": "synonym" }, { "name": "wdr11", "type": "synonym" } ], "record_id": "F1QEB7-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "A0A8M9QEB4-1", "uniprot_ac": "A0A8M9QEB4", "uniprot_id": "A0A8M9QEB4_DANRE", "refseq_ac": "XP_021331990", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "WD repeat-containing protein 19", "type": "recommended" }, { "name": "Intraflagellar transport 144 homolog", "type": "synonym" }, { "name": "WD repeat-containing protein 19 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "wdr19", "type": "recommended" }, { "name": "wdr19", "type": "synonym" } ], "record_id": "A0A8M9QEB4-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q58G59-1", "uniprot_ac": "Q58G59", "uniprot_id": "KIF7_DANRE", "refseq_ac": "NP_001014816", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Kinesin-like protein kif7", "type": "recommended" }, { "name": "Kinesin-like protein costal2", "type": "synonym" }, { "name": "kinesin-like protein costal2", "type": "synonym" }, { "name": "kinesin-like protein kif7", "type": "synonym" } ], "gene_names": [ { "name": "kif7", "type": "recommended" }, { "name": "cos2", "type": "synonym" }, { "name": "costal2", "type": "synonym" }, { "name": "kif7", "type": "synonym" } ], "record_id": "Q58G59-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "F1QU39-1", "uniprot_ac": "F1QU39", "uniprot_id": "F1QU39_DANRE", "refseq_ac": "XP_005160342", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Protein sprouty homolog 2", "type": "recommended" }, { "name": "protein sprouty homolog 2 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "spry2", "type": "recommended" }, { "name": "spry2", "type": "synonym" }, { "name": "wu:fk66h11", "type": "synonym" }, { "name": "wu:fk93e11", "type": "synonym" }, { "name": "zgc:110440", "type": "synonym" } ], "record_id": "F1QU39-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q9QXV8-1", "uniprot_ac": "Q9QXV8", "uniprot_id": "SPY2_MOUSE", "refseq_ac": "NP_036027", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Protein sprouty homolog 2", "type": "recommended" }, { "name": "Spry-2", "type": "synonym" }, { "name": "protein sprouty homolog 2", "type": "synonym" }, { "name": "sprouty homolog 2", "type": "synonym" }, { "name": "spry-2", "type": "synonym" } ], "gene_names": [ { "name": "Spry2", "type": "recommended" }, { "name": "Spry2", "type": "synonym" }, { "name": "sprouty2", "type": "synonym" } ], "record_id": "Q9QXV8-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q3UYI6-1", "uniprot_ac": "Q3UYI6", "uniprot_id": "FUZZY_MOUSE", "refseq_ac": "NP_081652", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Protein fuzzy homolog", "type": "recommended" }, { "name": "protein fuzzy homolog isoform 2", "type": "synonym" }, { "name": "protein fuzzy homolog", "type": "synonym" } ], "gene_names": [ { "name": "Fuz", "type": "recommended" }, { "name": "2600013E07Rik", "type": "synonym" }, { "name": "Fuz", "type": "synonym" }, { "name": "b2b1273Clo", "type": "synonym" } ], "record_id": "Q3UYI6-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q8K1X1-1", "uniprot_ac": "Q8K1X1", "uniprot_id": "WDR11_MOUSE", "refseq_ac": "NP_758459", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "WD repeat-containing protein 11", "type": "recommended" }, { "name": "Bromodomain and WD repeat-containing protein 2", "type": "synonym" }, { "name": "WD repeat-containing protein 11", "type": "synonym" }, { "name": "bromodomain and WD repeat domain containing 2", "type": "synonym" }, { "name": "bromodomain and WD repeat-containing protein 2", "type": "synonym" } ], "gene_names": [ { "name": "Wdr11", "type": "recommended" }, { "name": "2900055P10Rik", "type": "synonym" }, { "name": "Brwd2", "type": "synonym" }, { "name": "Kiaa1351", "type": "synonym" }, { "name": "Wdr11", "type": "synonym" }, { "name": "mKIAA1351", "type": "synonym" } ], "record_id": "Q8K1X1-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "G5E861-1", "uniprot_ac": "G5E861", "uniprot_id": "SCLT1_MOUSE", "refseq_ac": "NP_001074880", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Sodium channel and clathrin linker 1", "type": "recommended" }, { "name": "Sodium channel-associated protein 1", "type": "synonym" }, { "name": "sodium channel and clathrin linker 1", "type": "synonym" }, { "name": "sodium channel-associated protein 1", "type": "synonym" } ], "gene_names": [ { "name": "Sclt1", "type": "recommended" }, { "name": "2610207F23Rik", "type": "synonym" }, { "name": "4931421F20Rik", "type": "synonym" }, { "name": "CAGGS-SB10", "type": "synonym" }, { "name": "Sap1", "type": "synonym" }, { "name": "Sclt1", "type": "synonym" }, { "name": "Tg(ACTB-sb10)1Dla", "type": "synonym" }, { "name": "Tg(CAG-sb10)1Dla", "type": "synonym" } ], "record_id": "G5E861-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "B7ZNG0-1", "uniprot_ac": "B7ZNG0", "uniprot_id": "KIF7_MOUSE", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Kinesin-like protein KIF7", "type": "recommended" } ], "gene_names": [ { "name": "Kif7", "type": "recommended" } ], "record_id": "B7ZNG0-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q3UGF1-1", "uniprot_ac": "Q3UGF1", "uniprot_id": "WDR19_MOUSE", "refseq_ac": "NP_700440", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "WD repeat-containing protein 19", "type": "recommended" }, { "name": "Intraflagellar transport 144 homolog", "type": "synonym" }, { "name": "WD repeat membrane protein PWDMP", "type": "synonym" }, { "name": "WD repeat-containing protein 19 isoform a", "type": "synonym" }, { "name": "WD repeat-containing protein 19", "type": "synonym" }, { "name": "intraflagellar transport 144 homolog", "type": "synonym" } ], "gene_names": [ { "name": "Wdr19", "type": "recommended" }, { "name": "C330027H04Rik", "type": "synonym" }, { "name": "D330023L08Rik", "type": "synonym" }, { "name": "DYF2", "type": "synonym" }, { "name": "Ift144", "type": "synonym" }, { "name": "Kiaa1638", "type": "synonym" }, { "name": "PWDMP", "type": "synonym" }, { "name": "Wdr19", "type": "synonym" }, { "name": "mKIAA1638", "type": "synonym" } ], "record_id": "Q3UGF1-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q8CFW7-1", "uniprot_ac": "Q8CFW7", "uniprot_id": "C2D2A_MOUSE", "refseq_ac": "NP_758478", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Coiled-coil and C2 domain-containing protein 2A", "type": "recommended" }, { "name": "coiled-coil and C2 domain-containing protein 2A isoform a", "type": "synonym" }, { "name": "coiled-coil and C2 domain-containing protein 2A", "type": "synonym" } ], "gene_names": [ { "name": "Cc2d2a", "type": "recommended" }, { "name": "5730509K17Rik", "type": "synonym" }, { "name": "Cc2d2a", "type": "synonym" }, { "name": "b2b1035Clo", "type": "synonym" } ], "record_id": "Q8CFW7-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q99KL7-1", "uniprot_ac": "Q99KL7", "uniprot_id": "RAB28_MOUSE", "refseq_ac": "NP_081571", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Ras-related protein Rab-28", "type": "recommended" }, { "name": "3.6.5.2", "type": "synonym" }, { "name": "ras-related protein Rab-28 isoform 1", "type": "synonym" }, { "name": "ras-related protein Rab-28", "type": "synonym" } ], "gene_names": [ { "name": "Rab28", "type": "recommended" }, { "name": "2700023P08Rik", "type": "synonym" }, { "name": "Rab28", "type": "synonym" } ], "record_id": "Q99KL7-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q9R1S0-1", "uniprot_ac": "Q9R1S0", "uniprot_id": "B9D1_MOUSE", "refseq_ac": "NP_001317709", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "B9 domain-containing protein 1", "type": "recommended" }, { "name": "B9 domain-containing protein 1 isoform 2", "type": "synonym" }, { "name": "B9 domain-containing protein 1", "type": "synonym" }, { "name": "Endothelial precursor cells protein B9", "type": "synonym" }, { "name": "endothelial precursor cells protein B9", "type": "synonym" } ], "gene_names": [ { "name": "B9d1", "type": "recommended" }, { "name": "B9d1", "type": "synonym" }, { "name": "B9", "type": "synonym" }, { "name": "Eppb9", "type": "synonym" } ], "record_id": "Q9R1S0-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q5SW45-1", "uniprot_ac": "Q5SW45", "uniprot_id": "MKS1_MOUSE", "refseq_ac": "NP_001034773", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Tectonic-like complex member MKS1", "type": "recommended" }, { "name": "Meckel syndrome type 1 protein homolog", "type": "synonym" }, { "name": "Meckel syndrome, type 1", "type": "synonym" }, { "name": "meckel syndrome type 1 protein homolog", "type": "synonym" }, { "name": "tectonic-like complex member MKS1", "type": "synonym" } ], "gene_names": [ { "name": "Mks1", "type": "recommended" }, { "name": "B8d3", "type": "synonym" }, { "name": "Mks1", "type": "synonym" }, { "name": "avc6", "type": "synonym" } ], "record_id": "Q5SW45-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "A0A140LIW0-1", "uniprot_ac": "A0A140LIW0", "uniprot_id": "A0A140LIW0_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": "Coiled-coil and C2 domain containing 2B", "type": "synonym" } ], "gene_names": [ { "name": "Cc2d2b", "type": "recommended" } ], "record_id": "A0A140LIW0-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "O88848-1", "uniprot_ac": "O88848", "uniprot_id": "ARL6_MOUSE", "refseq_ac": "NP_001334173", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "ADP-ribosylation factor-like protein 6", "type": "recommended" }, { "name": "ADP-ribosylation factor-like protein 6 isoform 2", "type": "synonym" }, { "name": "ADP-ribosylation factor-like protein 6", "type": "synonym" }, { "name": "ADP-ribosylation-like 6", "type": "synonym" }, { "name": "ADP-ribosylation-like factor homolog ARL6", "type": "synonym" } ], "gene_names": [ { "name": "Arl6", "type": "recommended" }, { "name": "1110018H24Rik", "type": "synonym" }, { "name": "2210411E14Rik", "type": "synonym" }, { "name": "Arl6", "type": "synonym" }, { "name": "BBS3", "type": "synonym" }, { "name": "Bbs3", "type": "synonym" } ], "record_id": "O88848-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q9EPQ2-1", "uniprot_ac": "Q9EPQ2", "uniprot_id": "RPGR1_MOUSE", "refseq_ac": "NP_001161987", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "X-linked retinitis pigmentosa GTPase regulator-interacting protein 1", "type": "recommended" }, { "name": "RPGR-interacting protein 1", "type": "synonym" }, { "name": "X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform 2", "type": "synonym" }, { "name": "X-linked retinitis pigmentosa GTPase regulator-interacting protein 1", "type": "synonym" } ], "gene_names": [ { "name": "Rpgrip1", "type": "recommended" }, { "name": "0610005A07Rik", "type": "synonym" }, { "name": "4930401L23Rik", "type": "synonym" }, { "name": "4930505G06Rik", "type": "synonym" }, { "name": "A930002K18Rik", "type": "synonym" }, { "name": "Rpgrip1", "type": "synonym" }, { "name": "nmf247", "type": "synonym" } ], "record_id": "Q9EPQ2-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q8BPM2-1", "uniprot_ac": "Q8BPM2", "uniprot_id": "M4K5_MOUSE", "refseq_ac": "NP_958927", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Mitogen-activated protein kinase kinase kinase kinase 5", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "MAPK/ERK kinase kinase kinase 5", "type": "synonym" }, { "name": "MEK kinase kinase 5", "type": "synonym" }, { "name": "MEKKK 5", "type": "synonym" }, { "name": "mitogen-activated protein kinase kinase kinase kinase 5", "type": "synonym" } ], "gene_names": [ { "name": "Map4k5", "type": "recommended" }, { "name": "4432415E19Rik", "type": "synonym" }, { "name": "GCKR", "type": "synonym" }, { "name": "KHS", "type": "synonym" }, { "name": "MAPKKKK5", "type": "synonym" }, { "name": "Map4k5", "type": "synonym" } ], "record_id": "Q8BPM2-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "P0C605-1", "uniprot_ac": "P0C605", "uniprot_id": "KGP1_MOUSE", "refseq_ac": "NP_001013855", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "cGMP-dependent protein kinase 1", "type": "recommended" }, { "name": "2.7.11.12", "type": "synonym" }, { "name": "cGK 1", "type": "synonym" }, { "name": "cGK1", "type": "synonym" }, { "name": "cGKI", "type": "synonym" }, { "name": "cGMP-dependent protein kinase 1 isoform alpha", "type": "synonym" }, { "name": "cGMP-dependent protein kinase 1", "type": "synonym" }, { "name": "cGMP-dependent protein kinase I", "type": "synonym" } ], "gene_names": [ { "name": "Prkg1", "type": "recommended" }, { "name": "CGKI", "type": "synonym" }, { "name": "Gm19690", "type": "synonym" }, { "name": "Prkg1b", "type": "synonym" }, { "name": "Prkg1", "type": "synonym" }, { "name": "Prkgr1a", "type": "synonym" }, { "name": "Prkgr1b", "type": "synonym" } ], "record_id": "P0C605-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q3UK10-1", "uniprot_ac": "Q3UK10", "uniprot_id": "B9D2_MOUSE", "refseq_ac": "NP_742160", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "B9 domain-containing protein 2", "type": "recommended" }, { "name": "B9 domain-containing protein 2", "type": "synonym" }, { "name": "Stumpy", "type": "synonym" } ], "gene_names": [ { "name": "B9d2", "type": "recommended" }, { "name": "B9d2", "type": "synonym" }, { "name": "stumpy", "type": "synonym" } ], "record_id": "Q3UK10-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q3TYG6-1", "uniprot_ac": "Q3TYG6", "uniprot_id": "TGRM2_MOUSE", "refseq_ac": "NP_796061", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "TOG array regulator of axonemal microtubules protein 2", "type": "recommended" }, { "name": "Crescerin-2", "type": "synonym" }, { "name": "Protein FAM179A", "type": "synonym" }, { "name": "TOG array regulator of axonemal microtubules protein 2", "type": "synonym" }, { "name": "crescerin-2", "type": "synonym" }, { "name": "family with sequence similarity 179, member A", "type": "synonym" }, { "name": "protein FAM179A", "type": "synonym" } ], "gene_names": [ { "name": "Togaram2", "type": "recommended" }, { "name": "4632412N22Rik", "type": "synonym" }, { "name": "Fam179a", "type": "synonym" }, { "name": "Togaram2", "type": "synonym" } ], "record_id": "Q3TYG6-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "P70218-1", "uniprot_ac": "P70218", "uniprot_id": "M4K1_MOUSE", "refseq_ac": "NP_032305", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Mitogen-activated protein kinase kinase kinase kinase 1", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "HPK", "type": "synonym" }, { "name": "Hematopoietic progenitor kinase", "type": "synonym" }, { "name": "MAPK/ERK kinase kinase kinase 1", "type": "synonym" }, { "name": "MEK kinase kinase 1", "type": "synonym" }, { "name": "MEKKK 1", "type": "synonym" }, { "name": "hematopoietic progenitor kinase 1", "type": "synonym" }, { "name": "mitogen-activated protein kinase kinase kinase kinase 1 isoform 1", "type": "synonym" } ], "gene_names": [ { "name": "Map4k1", "type": "recommended" }, { "name": "Hpk1", "type": "synonym" }, { "name": "Map4k1", "type": "synonym" }, { "name": "mHPK1", "type": "synonym" } ], "record_id": "P70218-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q8VD72-1", "uniprot_ac": "Q8VD72", "uniprot_id": "TTC8_MOUSE", "refseq_ac": "NP_083829", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Tetratricopeptide repeat protein 8", "type": "recommended" }, { "name": "Bardet-Biedl syndrome 8 protein homolog", "type": "synonym" }, { "name": "TPR repeat protein 8", "type": "synonym" }, { "name": "bardet-Biedl syndrome 8 protein homolog", "type": "synonym" }, { "name": "tetratricopeptide repeat protein 8 isoform 2", "type": "synonym" }, { "name": "tetratricopeptide repeat protein 8", "type": "synonym" } ], "gene_names": [ { "name": "Ttc8", "type": "recommended" }, { "name": "0610012F22Rik", "type": "synonym" }, { "name": "BBS8", "type": "synonym" }, { "name": "Bbs8", "type": "synonym" }, { "name": "Ttc8", "type": "synonym" } ], "record_id": "Q8VD72-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q8CG73-1", "uniprot_ac": "Q8CG73", "uniprot_id": "FTM_MOUSE", "refseq_ac": "NP_775607", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Protein fantom", "type": "recommended" }, { "name": "Nephrocystin-8", "type": "synonym" }, { "name": "RPGR-interacting protein 1-like protein", "type": "synonym" }, { "name": "RPGRIP1-like protein", "type": "synonym" }, { "name": "fantom", "type": "synonym" }, { "name": "nephrocystin-8", "type": "synonym" }, { "name": "protein fantom", "type": "synonym" } ], "gene_names": [ { "name": "Rpgrip1l", "type": "recommended" }, { "name": "1700047E16Rik", "type": "synonym" }, { "name": "4931437C01", "type": "synonym" }, { "name": "Ftm", "type": "synonym" }, { "name": "Nphp8", "type": "synonym" }, { "name": "Rpgrip1l", "type": "synonym" } ], "record_id": "Q8CG73-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q6A070-1", "uniprot_ac": "Q6A070", "uniprot_id": "TGRM1_MOUSE", "refseq_ac": "NP_808473", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "TOG array regulator of axonemal microtubules protein 1", "type": "recommended" }, { "name": "Crescerin-1", "type": "synonym" }, { "name": "Protein FAM179B", "type": "synonym" }, { "name": "TOG array regulator of axonemal microtubules protein 1 isoform 2", "type": "synonym" }, { "name": "TOG array regulator of axonemal microtubules protein 1", "type": "synonym" }, { "name": "crescerin-1", "type": "synonym" }, { "name": "family with sequence similarity 179, member B", "type": "synonym" }, { "name": "protein FAM179B", "type": "synonym" } ], "gene_names": [ { "name": "Togaram1", "type": "recommended" }, { "name": "A430041B07Rik", "type": "synonym" }, { "name": "C130034K06", "type": "synonym" }, { "name": "Fam179b", "type": "synonym" }, { "name": "Kiaa0423", "type": "synonym" }, { "name": "Togaram1", "type": "synonym" } ], "record_id": "Q6A070-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q61161-1", "uniprot_ac": "Q61161", "uniprot_id": "M4K2_MOUSE", "refseq_ac": "NP_001278716", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Mitogen-activated protein kinase kinase kinase kinase 2", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "GCK", "type": "synonym" }, { "name": "Germinal center kinase", "type": "synonym" }, { "name": "MAPK/ERK kinase kinase kinase 2", "type": "synonym" }, { "name": "MEK kinase kinase 2", "type": "synonym" }, { "name": "MEKKK 2", "type": "synonym" }, { "name": "RAB8 interacting protein", "type": "synonym" }, { "name": "Rab8-interacting protein", "type": "synonym" }, { "name": "germinal center kinase", "type": "synonym" }, { "name": "mitogen-activated protein kinase kinase kinase kinase 2 isoform 2", "type": "synonym" }, { "name": "rab8-interacting protein", "type": "synonym" } ], "gene_names": [ { "name": "Map4k2", "type": "recommended" }, { "name": "BL44", "type": "synonym" }, { "name": "GCK", "type": "synonym" }, { "name": "Map4k2", "type": "synonym" }, { "name": "Rab8ip", "type": "synonym" } ], "record_id": "Q61161-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q9CZQ9-1", "uniprot_ac": "Q9CZQ9", "uniprot_id": "BBS5_MOUSE", "refseq_ac": "NP_082560", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "BBSome complex member BBS5", "type": "recommended" }, { "name": "BBSome complex member BBS5 isoform 1", "type": "synonym" }, { "name": "BBSome complex member BBS5", "type": "synonym" }, { "name": "Bardet-Biedl syndrome 5 protein homolog", "type": "synonym" }, { "name": "bardet-Biedl syndrome 5 protein homolog", "type": "synonym" }, { "name": "novel DUF1448 protein", "type": "synonym" } ], "gene_names": [ { "name": "Bbs5", "type": "recommended" }, { "name": "1700049I01Rik", "type": "synonym" }, { "name": "2700023J09Rik", "type": "synonym" }, { "name": "Bbs5", "type": "synonym" } ], "record_id": "Q9CZQ9-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q8BXG3-1", "uniprot_ac": "Q8BXG3", "uniprot_id": "IFT57_MOUSE", "refseq_ac": "NP_082956", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Intraflagellar transport protein 57 homolog", "type": "recommended" }, { "name": "HIP1-interacting protein", "type": "synonym" }, { "name": "Vestrogen-related receptor beta like 1", "type": "synonym" }, { "name": "estrogen-related receptor beta like 1", "type": "synonym" }, { "name": "huntingtin-interacting protein-1 protein interactor", "type": "synonym" }, { "name": "intraflagellar transport 57 homolog", "type": "synonym" }, { "name": "intraflagellar transport protein 57 homolog", "type": "synonym" } ], "gene_names": [ { "name": "Ift57", "type": "recommended" }, { "name": "4833420A15Rik", "type": "synonym" }, { "name": "Esrrbl1", "type": "synonym" }, { "name": "Hippi", "type": "synonym" }, { "name": "Ift57", "type": "synonym" }, { "name": "MHS4R2", "type": "synonym" } ], "record_id": "Q8BXG3-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "P59240-1", "uniprot_ac": "P59240", "uniprot_id": "NPHP4_MOUSE", "refseq_ac": "NP_700473", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Nephrocystin-4", "type": "recommended" }, { "name": "Nephroretinin", "type": "synonym" }, { "name": "nephrocystin-4", "type": "synonym" }, { "name": "nephroretinin", "type": "synonym" } ], "gene_names": [ { "name": "Nphp4", "type": "recommended" }, { "name": "4930564O18Rik", "type": "synonym" }, { "name": "Nphp4", "type": "synonym" }, { "name": "nmf192", "type": "synonym" } ], "record_id": "P59240-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q99JP0-1", "uniprot_ac": "Q99JP0", "uniprot_id": "M4K3_MOUSE", "refseq_ac": "NP_001277274", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Mitogen-activated protein kinase kinase kinase kinase 3", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "GLK", "type": "synonym" }, { "name": "Germinal center kinase-related protein kinase", "type": "synonym" }, { "name": "MAPK/ERK kinase kinase kinase 3", "type": "synonym" }, { "name": "MEK kinase kinase 3", "type": "synonym" }, { "name": "MEKKK 3", "type": "synonym" }, { "name": "germinal center kinase-related protein kinase", "type": "synonym" }, { "name": "mitogen-activated protein kinase kinase kinase kinase 3 isoform 1", "type": "synonym" } ], "gene_names": [ { "name": "Map4k3", "type": "recommended" }, { "name": "4833416M01Rik", "type": "synonym" }, { "name": "4833416M07Rik", "type": "synonym" }, { "name": "9530052P13Rik", "type": "synonym" }, { "name": "Glk", "type": "synonym" }, { "name": "MAPKKKK3", "type": "synonym" }, { "name": "MEKKK 3", "type": "synonym" }, { "name": "MEKKK3", "type": "synonym" }, { "name": "Map4k3", "type": "synonym" }, { "name": "RAB8IPL1", "type": "synonym" } ], "record_id": "Q99JP0-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q8BR76-1", "uniprot_ac": "Q8BR76", "uniprot_id": "MKS3_MOUSE", "refseq_ac": "NP_808529", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Meckelin", "type": "recommended" }, { "name": "Meckel syndrome type 3 protein homolog", "type": "synonym" }, { "name": "Transmembrane protein 67", "type": "synonym" }, { "name": "meckel syndrome type 3 protein homolog", "type": "synonym" }, { "name": "meckelin precursor", "type": "synonym" }, { "name": "meckelin", "type": "synonym" } ], "gene_names": [ { "name": "Tmem67", "type": "recommended" }, { "name": "5330408M12Rik", "type": "synonym" }, { "name": "B230117O07", "type": "synonym" }, { "name": "Mks3", "type": "synonym" }, { "name": "Tmem67", "type": "synonym" }, { "name": "b2b1163.1Clo", "type": "synonym" }, { "name": "b2b1291.1Clo", "type": "synonym" } ], "record_id": "Q8BR76-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "O88413-1", "uniprot_ac": "O88413", "uniprot_id": "TULP3_MOUSE", "refseq_ac": "NP_035787", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Tubby-related protein 3", "type": "recommended" }, { "name": "Protein hitchhiker", "type": "synonym" }, { "name": "Tubby-like protein 3", "type": "synonym" }, { "name": "hhkr", "type": "synonym" }, { "name": "tubby-like protein 3", "type": "synonym" }, { "name": "tubby-related protein 3", "type": "synonym" } ], "gene_names": [ { "name": "Tulp3", "type": "recommended" }, { "name": "2310022L06Rik", "type": "synonym" }, { "name": "Tulp3", "type": "synonym" } ], "record_id": "O88413-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q8K057-1", "uniprot_ac": "Q8K057", "uniprot_id": "IFT80_MOUSE", "refseq_ac": "NP_080917", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Intraflagellar transport protein 80 homolog", "type": "recommended" }, { "name": "WD repeat domain 56", "type": "synonym" }, { "name": "WD repeat-containing protein 56", "type": "synonym" }, { "name": "intraflagellar transport 80 homolog", "type": "synonym" }, { "name": "intraflagellar transport protein 80 homolog", "type": "synonym" } ], "gene_names": [ { "name": "Ift80", "type": "recommended" }, { "name": "4921524P20Rik", "type": "synonym" }, { "name": "Ift80", "type": "synonym" }, { "name": "Kiaa1374", "type": "synonym" }, { "name": "Wdr56", "type": "synonym" }, { "name": "mKIAA1374", "type": "synonym" } ], "record_id": "Q8K057-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "P70441-1", "uniprot_ac": "P70441", "uniprot_id": "NHRF1_MOUSE", "refseq_ac": "NP_036160", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Na(+)/H(+) exchange regulatory cofactor NHE-RF1", "type": "recommended" }, { "name": "EBP50", "type": "synonym" }, { "name": "Ezrin-radixin-moesin-binding phosphoprotein 50", "type": "synonym" }, { "name": "NHERF-1", "type": "synonym" }, { "name": "Na(+)/H(+) exchange regulatory cofactor NHE-RF1", "type": "synonym" }, { "name": "Regulatory cofactor of Na(+)/H(+) exchanger", "type": "synonym" }, { "name": "Sodium-hydrogen exchanger regulatory factor 1", "type": "synonym" }, { "name": "Solute carrier family 9 isoform A3 regulatory factor 1", "type": "synonym" }, { "name": "ezrin-radixin-moesin-binding phosphoprotein 50", "type": "synonym" }, { "name": "regulatory cofactor of Na(+)/H(+) exchanger", "type": "synonym" }, { "name": "sodium-hydrogen exchanger regulatory factor 1", "type": "synonym" }, { "name": "solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1", "type": "synonym" } ], "gene_names": [ { "name": "Nherf1", "type": "recommended" }, { "name": "EBP-50", "type": "synonym" }, { "name": "NHE-RF", "type": "synonym" }, { "name": "NHERF-1", "type": "synonym" }, { "name": "Nherf1", "type": "synonym" }, { "name": "Nherf", "type": "synonym" }, { "name": "Slc9a3r1", "type": "synonym" } ], "record_id": "P70441-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "O89019-1", "uniprot_ac": "O89019", "uniprot_id": "INVS_MOUSE", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Inversin", "type": "recommended" }, { "name": "Inversion of embryo turning protein", "type": "synonym" }, { "name": "Nephrocystin-2", "type": "synonym" } ], "gene_names": [ { "name": "Invs", "type": "recommended" }, { "name": "Inv", "type": "synonym" }, { "name": "Nphp2", "type": "synonym" } ], "record_id": "O89019-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "O35245-1", "uniprot_ac": "O35245", "uniprot_id": "PKD2_MOUSE", "refseq_ac": "NP_032887", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Polycystin-2", "type": "recommended" }, { "name": "Polycystic kidney disease 2 protein homolog", "type": "synonym" }, { "name": "Transient receptor potential cation channel subfamily P member 2", "type": "synonym" }, { "name": "polycystic kidney disease 2 protein homolog", "type": "synonym" }, { "name": "polycystin-2", "type": "synonym" }, { "name": "transient receptor potential cation channel subfamily P member 2", "type": "synonym" } ], "gene_names": [ { "name": "Pkd2", "type": "recommended" }, { "name": "C030034P18Rik", "type": "synonym" }, { "name": "PC2", "type": "synonym" }, { "name": "Pkd2", "type": "synonym" }, { "name": "TRPP2", "type": "synonym" } ], "record_id": "O35245-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q8C1Z7-1", "uniprot_ac": "Q8C1Z7", "uniprot_id": "BBS4_MOUSE", "refseq_ac": "NP_780534", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "BBSome complex member BBS4", "type": "recommended" }, { "name": "BBSome complex member BBS4 isoform 1", "type": "synonym" }, { "name": "BBSome complex member BBS4", "type": "synonym" }, { "name": "Bardet-Biedl syndrome 4 homolog", "type": "synonym" }, { "name": "Bardet-Biedl syndrome 4 protein homolog", "type": "synonym" }, { "name": "bardet-Biedl syndrome 4 protein homolog", "type": "synonym" } ], "gene_names": [ { "name": "Bbs4", "type": "recommended" }, { "name": "Bbs4", "type": "synonym" }, { "name": "D9Ertd464e", "type": "synonym" } ], "record_id": "Q8C1Z7-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q9JI70-1", "uniprot_ac": "Q9JI70", "uniprot_id": "MKKS_MOUSE", "refseq_ac": "NP_001135418", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Molecular chaperone MKKS", "type": "recommended" }, { "name": "MKKS protein", "type": "synonym" }, { "name": "McKusick-Kaufman syndrome protein", "type": "synonym" }, { "name": "McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin", "type": "synonym" }, { "name": "Protein Bbs6 homolog", "type": "synonym" }, { "name": "mcKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin", "type": "synonym" }, { "name": "molecular chaperone MKKS isoform 1", "type": "synonym" }, { "name": "molecular chaperone MKKS", "type": "synonym" }, { "name": "protein Bbs6 homolog", "type": "synonym" } ], "gene_names": [ { "name": "Mkks", "type": "recommended" }, { "name": "1300013E18Rik", "type": "synonym" }, { "name": "Bbs6", "type": "synonym" }, { "name": "Mkks", "type": "synonym" } ], "record_id": "Q9JI70-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "E9PYY5-1", "uniprot_ac": "E9PYY5", "uniprot_id": "DNAI4_MOUSE", "refseq_ac": "NP_666366", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Dynein axonemal intermediate chain 4", "type": "recommended" }, { "name": "WD repeat domain 78", "type": "synonym" }, { "name": "WD repeat-containing protein 78", "type": "synonym" }, { "name": "dynein axonemal intermediate chain 4 isoform 1", "type": "synonym" }, { "name": "dynein intermediate chain 4, axonemal", "type": "synonym" } ], "gene_names": [ { "name": "Dnai4", "type": "recommended" }, { "name": "Dnai4", "type": "synonym" }, { "name": "Wdr78", "type": "synonym" } ], "record_id": "E9PYY5-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q8K1A6-1", "uniprot_ac": "Q8K1A6", "uniprot_id": "C2D1A_MOUSE", "refseq_ac": "NP_666082", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Coiled-coil and C2 domain-containing protein 1A", "type": "recommended" }, { "name": "5-HT1A receptor", "type": "synonym" }, { "name": "FRE under dual repression-binding protein 1", "type": "synonym" }, { "name": "Five prime repressor element under dual repression-binding protein 1", "type": "synonym" }, { "name": "Freud-1", "type": "synonym" }, { "name": "coiled-coil and C2 domain-containing protein 1A isoform 1", "type": "synonym" }, { "name": "coiled-coil and C2 domain-containing protein 1A", "type": "synonym" }, { "name": "five prime repressor element under dual repression-binding protein 1", "type": "synonym" }, { "name": "five' repressor element under dual repression binding protein 1", "type": "synonym" }, { "name": "putative NFkB activating protein", "type": "synonym" } ], "gene_names": [ { "name": "Cc2d1a", "type": "recommended" }, { "name": "Cc2d1a", "type": "synonym" }, { "name": "Freud-1", "type": "synonym" }, { "name": "Tape", "type": "synonym" } ], "record_id": "Q8K1A6-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q91ZD4-1", "uniprot_ac": "Q91ZD4", "uniprot_id": "VANG2_MOUSE", "refseq_ac": "NP_277044", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Vang-like protein 2", "type": "recommended" }, { "name": "Loop-tail protein 1", "type": "synonym" }, { "name": "Loop-tail-associated protein", "type": "synonym" }, { "name": "Van Gogh-like protein 2", "type": "synonym" }, { "name": "loop tail associated protein", "type": "synonym" }, { "name": "loop-tail protein 1", "type": "synonym" }, { "name": "van Gogh-like protein 2", "type": "synonym" }, { "name": "vang-like 2 (van gogh, Drosophila)", "type": "synonym" }, { "name": "vang-like protein 2", "type": "synonym" } ], "gene_names": [ { "name": "Vangl2", "type": "recommended" }, { "name": "C530001F03Rik", "type": "synonym" }, { "name": "Lootl", "type": "synonym" }, { "name": "Lpp1", "type": "synonym" }, { "name": "Lp", "type": "synonym" }, { "name": "Ltap", "type": "synonym" }, { "name": "Vang1l2", "type": "synonym" }, { "name": "Vangl2", "type": "synonym" }, { "name": "loop-tail", "type": "synonym" }, { "name": "ska17", "type": "synonym" }, { "name": "ska", "type": "synonym" }, { "name": "stbm", "type": "synonym" }, { "name": "strabismus", "type": "synonym" } ], "record_id": "Q91ZD4-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q6A000-1", "uniprot_ac": "Q6A000", "uniprot_id": "MOONR_MOUSE", "refseq_ac": "NP_083239", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Protein moonraker", "type": "recommended" }, { "name": "MNR", "type": "synonym" }, { "name": "protein moonraker", "type": "synonym" } ], "gene_names": [ { "name": "4933427D14Rik", "type": "recommended" }, { "name": "Kiaa0753", "type": "recommended" }, { "name": "4933427D14Rik", "type": "synonym" }, { "name": "Gm43951", "type": "synonym" }, { "name": "Kiaa0753", "type": "synonym" }, { "name": "MNR", "type": "synonym" }, { "name": "Mnr", "type": "synonym" } ], "record_id": "Q6A000-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q64702-1", "uniprot_ac": "Q64702", "uniprot_id": "PLK4_MOUSE", "refseq_ac": "NP_035625", "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 kinase PLK4", "type": "recommended" }, { "name": "2.7.11.21", "type": "synonym" }, { "name": "PLK-4", "type": "synonym" }, { "name": "Polo-like kinase 4", "type": "synonym" }, { "name": "Serine/threonine-protein kinase 18", "type": "synonym" }, { "name": "Serine/threonine-protein kinase Sak", "type": "synonym" }, { "name": "serine/threonine kinase 18", "type": "synonym" }, { "name": "serine/threonine-protein kinase 18", "type": "synonym" }, { "name": "serine/threonine-protein kinase PLK4 isoform 1", "type": "synonym" }, { "name": "serine/threonine-protein kinase Plk4", "type": "synonym" }, { "name": "serine/threonine-protein kinase Sak", "type": "synonym" } ], "gene_names": [ { "name": "Plk4", "type": "recommended" }, { "name": "1700028H20", "type": "synonym" }, { "name": "Plk4", "type": "synonym" }, { "name": "Sak", "type": "synonym" }, { "name": "Stk18", "type": "synonym" } ], "record_id": "Q64702-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "P12787-1", "uniprot_ac": "P12787", "uniprot_id": "COX5A_MOUSE", "refseq_ac": "NP_031773", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Cytochrome c oxidase subunit 5A, mitochondrial", "type": "recommended" }, { "name": "Cytochrome c oxidase polypeptide Va", "type": "synonym" }, { "name": "cytochrome c oxidase polypeptide Va", "type": "synonym" }, { "name": "cytochrome c oxidase subunit 5A, mitochondrial precursor", "type": "synonym" }, { "name": "cytochrome c oxidase subunit 5A, mitochondrial", "type": "synonym" }, { "name": "cytochrome c oxidase subunit Va", "type": "synonym" } ], "gene_names": [ { "name": "Cox5a", "type": "recommended" }, { "name": "CcOX", "type": "synonym" }, { "name": "Cox5a", "type": "synonym" } ], "record_id": "P12787-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q6A078-1", "uniprot_ac": "Q6A078", "uniprot_id": "CE290_MOUSE", "refseq_ac": "NP_666121", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Centrosomal protein of 290 kDa", "type": "recommended" }, { "name": "Bardet-Biedl syndrome 14 protein homolog", "type": "synonym" }, { "name": "Cep290", "type": "synonym" }, { "name": "Nephrocystin-6", "type": "synonym" }, { "name": "centrosomal protein of 290 kDa isoform 2", "type": "synonym" }, { "name": "centrosomal protein of 290 kDa", "type": "synonym" }, { "name": "nephrocystin-6", "type": "synonym" } ], "gene_names": [ { "name": "Cep290", "type": "recommended" }, { "name": "Cep290", "type": "synonym" }, { "name": "Kiaa0373", "type": "synonym" }, { "name": "Nphp6", "type": "synonym" }, { "name": "b2b1454Clo", "type": "synonym" }, { "name": "b2b1752Clo", "type": "synonym" } ], "record_id": "Q6A078-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q9CQ66-1", "uniprot_ac": "Q9CQ66", "uniprot_id": "DYT2B_MOUSE", "refseq_ac": "NP_079605", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Dynein light chain Tctex-type protein 2B", "type": "recommended" }, { "name": "Tctex1 domain containing 2", "type": "synonym" }, { "name": "Tctex1 domain-containing protein 2", "type": "synonym" }, { "name": "dynein light chain Tctex-type protein 2B isoform 1", "type": "synonym" }, { "name": "dynein light chain Tctex-type protein 2B", "type": "synonym" }, { "name": "tctex1 domain-containing protein 2", "type": "synonym" } ], "gene_names": [ { "name": "Dynlt2b", "type": "recommended" }, { "name": "0610012D17Rik", "type": "synonym" }, { "name": "2410011K15Rik", "type": "synonym" }, { "name": "Dynlt2b", "type": "synonym" }, { "name": "Tctex1d2", "type": "synonym" } ], "record_id": "Q9CQ66-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "P38692-1", "uniprot_ac": "P38692", "uniprot_id": "KIC1_YEAST", "refseq_ac": "NP_011970", "glycoprotein": "yes", "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 kinase KIC1", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "Kinase that interacts with CDC31", "type": "synonym" }, { "name": "N-rich kinase 1", "type": "synonym" }, { "name": "putative serine/threonine protein kinase KIC1", "type": "synonym" } ], "gene_names": [ { "name": "KIC1", "type": "recommended" }, { "name": "KIC1", "type": "synonym" }, { "name": "NRK1", "type": "synonym" } ], "record_id": "P38692-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "P00427-1", "uniprot_ac": "P00427", "uniprot_id": "COX6_YEAST", "refseq_ac": "NP_011918", "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": "Cytochrome c oxidase subunit 6, mitochondrial", "type": "recommended" }, { "name": "Cytochrome c oxidase polypeptide VI", "type": "synonym" }, { "name": "cytochrome c oxidase subunit VI", "type": "synonym" } ], "gene_names": [ { "name": "COX6", "type": "recommended" }, { "name": "COX6", "type": "synonym" } ], "record_id": "P00427-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "D3ZHL6-1", "uniprot_ac": "D3ZHL6", "uniprot_id": "D3ZHL6_RAT", "refseq_ac": "NP_001178945", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Mitogen-activated protein kinase kinase kinase kinase", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": 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"https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "A0A0G2K9D9-1", "uniprot_ac": "A0A0G2K9D9", "uniprot_id": "A0A0G2K9D9_RAT", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Coiled-coil and C2 domain containing 2A", "type": "synonym" } ], "gene_names": [ { "name": "Cc2d2a", "type": "recommended" } ], "record_id": "A0A0G2K9D9-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "A0ABK0M8L4-1", "uniprot_ac": "A0ABK0M8L4", "uniprot_id": "A0ABK0M8L4_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": "cGMP-dependent protein kinase", "type": "recommended" }, { "name": "2.7.11.12", "type": "synonym" } ], "gene_names": [ { "name": "AABR07006724.1", "type": "recommended" }, { "name": "Prkg1", "type": "recommended" }, { "name": "AABR07006724.1", "type": "synonym" }, { "name": "Prkg1", "type": "synonym" } ], "record_id": "A0ABK0M8L4-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "A0ABK0LJ71-1", "uniprot_ac": "A0ABK0LJ71", "uniprot_id": "A0ABK0LJ71_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": "RPGR interacting protein 1", "type": "synonym" } ], "gene_names": [ { "name": "Rpgrip1", "type": "recommended" } ], "record_id": "A0ABK0LJ71-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "D4A1L0-1", "uniprot_ac": "D4A1L0", "uniprot_id": "D4A1L0_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": "TOG array regulator of axonemal microtubules 2", "type": "synonym" } ], "gene_names": [ { "name": "Togaram2", "type": "recommended" }, { "name": "Fam179a", "type": "synonym" } ], "record_id": "D4A1L0-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "P0C5J2-1", "uniprot_ac": "P0C5J2", "uniprot_id": "B9D1_RAT", "refseq_ac": "NP_001099256", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], 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[10116]" } ], "protein_names": [ { "name": "TOG array regulator of axonemal microtubules protein 1", "type": "recommended" }, { "name": "Crescerin-1", "type": "synonym" }, { "name": "Protein FAM179B", "type": "synonym" }, { "name": "TOG array regulator of axonemal microtubules protein 1", "type": "synonym" }, { "name": "family with sequence similarity 179, member B", "type": "synonym" } ], "gene_names": [ { "name": "Togaram1", "type": "recommended" }, { "name": "Fam179b", "type": "synonym" }, { "name": "RGD1310474", "type": "synonym" }, { "name": "Togaram1", "type": "synonym" } ], "record_id": "D4ABJ6-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "A0ABK0L514-1", "uniprot_ac": "A0ABK0L514", "uniprot_id": "A0ABK0L514_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": "BBSome complex member BBS5", "type": "recommended" }, { "name": "Kelch repeat and BTB domain-containing protein 10", "type": "synonym" }, { "name": "Kelch-like protein 41", "type": "synonym" } ], "gene_names": [ { "name": "Bbs5", "type": "recommended" } ], "record_id": "A0ABK0L514-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "P0C5J3-1", "uniprot_ac": "P0C5J3", "uniprot_id": "B9D2_RAT", "refseq_ac": "NP_001100964", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "B9 domain-containing protein 2", "type": "recommended" }, { "name": "B9 domain-containing protein 2", "type": "synonym" }, { "name": "B9 protein domain 2", "type": "synonym" } ], "gene_names": [ { "name": 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"glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Intraflagellar transport protein 57 homolog", "type": "recommended" }, { "name": "estrogen-related receptor beta like 1", "type": "synonym" }, { "name": "intraflagellar transport 57 homolog", "type": "synonym" }, { "name": "intraflagellar transport protein 57 homolog", "type": "synonym" } ], "gene_names": [ { "name": "Ift57", "type": "recommended" }, { "name": "Esrrbl1", "type": "synonym" }, { "name": "Ift57", "type": "synonym" } ], "record_id": "D4A1V1-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "A0ABK0L1R9-1", "uniprot_ac": "A0ABK0L1R9", "uniprot_id": "A0ABK0L1R9_RAT", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "G3V9Y6-1", "uniprot_ac": "G3V9Y6", "uniprot_id": "G3V9Y6_RAT", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Nephrocystin 4", "type": "synonym" } ], "gene_names": [ { "name": "Nphp4", "type": "recommended" } ], "record_id": "G3V9Y6-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "A0ABK0LK01-1", "uniprot_ac": "A0ABK0LK01", "uniprot_id": "A0ABK0LK01_RAT", "refseq_ac": "XP_017445859", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Coiled-coil and C2 domain containing 2B", "type": "synonym" }, { "name": "protein CC2D2B isoform X5", "type": "synonym" } ], "gene_names": [ { "name": "Cc2d2b", "type": "recommended" }, { "name": "Cc2d2b", "type": "synonym" } ], "record_id": "A0ABK0LK01-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "P51158-1", "uniprot_ac": "P51158", "uniprot_id": "RAB28_RAT", "refseq_ac": "NP_446430", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Ras-related protein Rab-28", "type": "recommended" }, { "name": "3.6.5.2", "type": "synonym" }, { "name": "rab-26", "type": "synonym" }, { "name": "ras-related protein Rab-28", "type": "synonym" } ], "gene_names": [ { "name": "Rab28", "type": "recommended" }, { "name": "Rab28", "type": "synonym" } ], "record_id": "P51158-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q924I2-1", "uniprot_ac": "Q924I2", "uniprot_id": "M4K3_RAT", "refseq_ac": "NP_596898", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Mitogen-activated protein kinase kinase kinase kinase 3", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "GLK", "type": "synonym" }, { "name": "Germinal center kinase-related protein kinase", "type": "synonym" }, { "name": "MAPK/ERK kinase kinase kinase 3", "type": "synonym" }, { "name": "MEK kinase kinase 3", "type": "synonym" }, { "name": "MEKKK 3", "type": "synonym" }, { "name": "germinal center kinase-related protein kinase", "type": "synonym" }, { "name": "mitogen-activated protein kinase kinase kinase kinase 3", "type": "synonym" } ], "gene_names": [ { "name": "Map4k3", "type": "recommended" }, { "name": "Map4k3", "type": "synonym" } ], "record_id": "Q924I2-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "B1WC73-1", "uniprot_ac": "B1WC73", "uniprot_id": "B1WC73_RAT", "refseq_ac": "NP_001430583", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "ADP-ribosylation factor-like protein 6", "type": "recommended" }, { "name": "ADP-ribosylation factor like GTPase 6", "type": "synonym" }, { "name": "ADP-ribosylation factor-like 6", "type": "synonym" }, { "name": "ADP-ribosylation factor-like protein 6 isoform 1", "type": "synonym" }, { "name": "ADP-ribosylation factor-like protein 6", "type": "synonym" } ], "gene_names": [ { "name": "Arl6", "type": "recommended" }, { "name": "Arl6", "type": "synonym" } ], "record_id": "B1WC73-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "D3ZD38-1", "uniprot_ac": "D3ZD38", "uniprot_id": "D3ZD38_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": "Dynein light chain Tctex-type 2B, pseudogene 1", "type": "synonym" } ], "gene_names": [ { "name": "Dynlt2b-ps1", "type": "recommended" }, { "name": "RGD1564702", "type": "synonym" } ], "record_id": "D3ZD38-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "F1LZ00-1", "uniprot_ac": "F1LZ00", "uniprot_id": "F1LZ00_RAT", "refseq_ac": "NP_001366028", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "THO complex subunit 2", "type": "recommended" }, { "name": "similar to THO complex subunit 2 (Tho2)", "type": "synonym" } ], "gene_names": [ { "name": "Thoc2l", "type": "recommended" }, { "name": "LOC679894", "type": "synonym" }, { "name": "Pkd2", "type": "synonym" }, { "name": "Thoc2l", "type": "synonym" } ], "record_id": "F1LZ00-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q9JJ19-1", "uniprot_ac": "Q9JJ19", "uniprot_id": "NHRF1_RAT", "refseq_ac": "NP_067605", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Na(+)/H(+) exchange regulatory cofactor NHE-RF1", "type": "recommended" }, { "name": "EBP50", "type": "synonym" }, { "name": "ERM-binding phosphoprotein", "type": "synonym" }, { "name": "Ezrin-radixin-moesin-binding phosphoprotein 50", "type": "synonym" }, { "name": "NHERF-1", "type": "synonym" }, { "name": "Na(+)/H(+) exchange regulatory cofactor NHE-RF1", "type": "synonym" }, { "name": "Regulatory cofactor of Na(+)/H(+) exchanger", "type": "synonym" }, { "name": "SLC9A3 regulator 1", "type": "synonym" }, { "name": "Sodium-hydrogen exchanger regulatory factor 1", "type": "synonym" }, { "name": "Solute carrier family 9 isoform A3 regulatory factor 1", "type": "synonym" }, { "name": "ezrin-radixin-moesin-binding phosphoprotein 50", "type": "synonym" }, { "name": "regulatory cofactor of Na(+)/H(+) exchanger", "type": "synonym" }, { "name": "sodium-hydrogen exchanger regulatory factor 1", "type": "synonym" }, { "name": "solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1", "type": "synonym" }, { "name": "solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1", "type": "synonym" } ], "gene_names": [ { "name": "Nherf1", "type": "recommended" }, { "name": "Nherf1", "type": "synonym" }, { "name": "Nherf", "type": "synonym" }, { "name": "Slc9a3r1", "type": "synonym" } ], "record_id": "Q9JJ19-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "B2GUY1-1", "uniprot_ac": "B2GUY1", "uniprot_id": "PLK4_RAT", "refseq_ac": "NP_001382032", "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 kinase PLK4", "type": "recommended" }, { "name": "2.7.11.21", "type": "synonym" }, { "name": "PLK-4", "type": "synonym" }, { "name": "Polo-like kinase 4", "type": "synonym" }, { "name": "Serine/threonine-protein kinase Sak", "type": "synonym" }, { "name": "serine/threonine-protein kinase PLK4", "type": "synonym" }, { "name": "serine/threonine-protein kinase Sak", "type": "synonym" } ], "gene_names": [ { "name": "Plk4", "type": "recommended" }, { "name": "Plk4", "type": "synonym" }, { "name": "Sak", "type": "synonym" } ], "record_id": "B2GUY1-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "P11240-1", "uniprot_ac": "P11240", "uniprot_id": "COX5A_RAT", "refseq_ac": "NP_665726", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Cytochrome c oxidase subunit 5A, mitochondrial", "type": "recommended" }, { "name": "Cytochrome c oxidase polypeptide Va", "type": "synonym" }, { "name": "cytochrome c oxidase polypeptide Va", "type": "synonym" }, { "name": "cytochrome c oxidase subunit 5A, mitochondrial precursor", "type": "synonym" }, { "name": "cytochrome c oxidase subunit 5A, mitochondrial", "type": "synonym" }, { "name": "cytochrome c oxidase, subunit Va", "type": "synonym" } ], "gene_names": [ { "name": "Cox5a", "type": "recommended" }, { "name": "LOC100361008", "type": "recommended" }, { "name": "Cox5a", "type": "synonym" }, { "name": "LOC100361008", "type": "synonym" } ], "record_id": "P11240-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q4V8G4-1", "uniprot_ac": "Q4V8G4", "uniprot_id": "DNAI4_RAT", "refseq_ac": "NP_001019957", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Dynein axonemal intermediate chain 4", "type": "recommended" }, { "name": "WD repeat domain 78", "type": "synonym" }, { "name": "WD repeat-containing protein 78", "type": "synonym" }, { "name": "dynein axonemal intermediate chain 4", "type": "synonym" }, { "name": "dynein intermediate chain 4, axonemal", "type": "synonym" } ], "gene_names": [ { "name": "Dnai4", "type": "recommended" }, { "name": "Dnai4", "type": "synonym" }, { "name": "RGD1311027", "type": "synonym" }, { "name": "Wdr78", "type": "synonym" } ], "record_id": "Q4V8G4-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "F1M656-1", "uniprot_ac": "F1M656", "uniprot_id": "F1M656_RAT", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Tubby-like protein", "type": "recommended" } ], "gene_names": [ { "name": "Tulp3", "type": "recommended" }, { "name": "LOC100364088", "type": "synonym" } ], "record_id": "F1M656-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "D4A4A8-1", "uniprot_ac": "D4A4A8", "uniprot_id": "D4A4A8_RAT", "refseq_ac": "XP_038965783", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Inversin", "type": "recommended" }, { "name": "inversin isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "Invs", "type": "recommended" }, { "name": "Invs", "type": "synonym" }, { "name": "RGD1563359", "type": "synonym" } ], "record_id": "D4A4A8-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q66HB3-1", "uniprot_ac": "Q66HB3", "uniprot_id": "IFT80_RAT", "refseq_ac": "NP_001013933", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Intraflagellar transport protein 80 homolog", "type": "recommended" }, { "name": "WD repeat domain 56", "type": "synonym" }, { "name": "WD repeat-containing protein 56", "type": "synonym" }, { "name": "intraflagellar transport 80 homolog", "type": "synonym" }, { "name": "intraflagellar transport protein 80 homolog isoform 1", "type": "synonym" }, { "name": "intraflagellar transport protein 80 homolog", "type": "synonym" } ], "gene_names": [ { "name": "Ift80", "type": "recommended" }, { "name": "Ift80", "type": "synonym" }, { "name": "RGD1312006", "type": "synonym" }, { "name": "Wdr56", "type": "synonym" } ], "record_id": "Q66HB3-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "P0C152-1", "uniprot_ac": "P0C152", "uniprot_id": "MKS3_RAT", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Meckelin", "type": "recommended" }, { "name": "Meckel syndrome type 3 protein homolog", "type": "synonym" }, { "name": "Transmembrane protein 67", "type": "synonym" } ], "gene_names": [ { "name": "Tmem67", "type": "recommended" }, { "name": "Mks3", "type": "synonym" }, { "name": "Wpk", "type": "synonym" } ], "record_id": "P0C152-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q66HA5-1", "uniprot_ac": "Q66HA5", "uniprot_id": "C2D1A_RAT", "refseq_ac": "NP_001013891", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Coiled-coil and C2 domain-containing protein 1A", "type": "recommended" }, { "name": "FRE under dual repression-binding protein 1", "type": "synonym" }, { "name": "Five prime repressor element under dual repression-binding protein 1", "type": "synonym" }, { "name": "Freud-1", "type": "synonym" }, { "name": "coiled-coil and C2 domain-containing protein 1A isoform 1", "type": "synonym" }, { "name": "coiled-coil and C2 domain-containing protein 1A", "type": "synonym" }, { "name": "five prime repressor element under dual repression-binding protein 1", "type": "synonym" }, { "name": "five repressor element under dual repression-binding protein 1", "type": "synonym" }, { "name": "freud-1", "type": "synonym" } ], "gene_names": [ { "name": "Cc2d1a", "type": "recommended" }, { "name": "Cc2d1a", "type": "synonym" }, { "name": "RGD1306108", "type": "synonym" } ], "record_id": "Q66HA5-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "A0A0G2K715-1", "uniprot_ac": "A0A0G2K715", "uniprot_id": "A0A0G2K715_RAT", "refseq_ac": "NP_001129227", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Centrosomal protein 290", "type": "synonym" }, { "name": "centrosomal protein 290kDa", "type": "synonym" }, { "name": "centrosomal protein of 290 kDa isoform 2", "type": "synonym" }, { "name": "centrosomal protein of 290 kDa", "type": "synonym" } ], "gene_names": [ { "name": "Cep290", "type": "recommended" }, { "name": "Cep290", "type": "synonym" }, { "name": "RGD1311640", "type": "synonym" } ], "record_id": "A0A0G2K715-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "P84889-1", "uniprot_ac": "P84889", "uniprot_id": "VANG2_RAT", "refseq_ac": "NP_001099439", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Vang-like protein 2", "type": "recommended" }, { "name": "Van Gogh-like protein 2", "type": "synonym" }, { "name": "loop tail associated protein", "type": "synonym" }, { "name": "van Gogh-like protein 2", "type": "synonym" }, { "name": "vang-like 2 (van gogh, Drosophila)", "type": "synonym" }, { "name": "vang-like protein 2", "type": "synonym" } ], "gene_names": [ { "name": "Vangl2", "type": "recommended" }, { "name": "Ltap", "type": "synonym" }, { "name": "Vangl2", "type": "synonym" } ], "record_id": "P84889-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q8CJ99-1", "uniprot_ac": "Q8CJ99", "uniprot_id": "SCLT1_RAT", "refseq_ac": "NP_714962", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Sodium channel and clathrin linker 1", "type": "recommended" }, { "name": "CAP-1A", "type": "synonym" }, { "name": "Clathrin-associated protein 1A", "type": "synonym" }, { "name": "Sodium channel Nav1.8-binding protein", "type": "synonym" }, { "name": "Sodium channel-associated protein 1", "type": "synonym" }, { "name": "clathrin-associated protein 1A", "type": "synonym" }, { "name": "sodium channel Nav1.8-binding protein", "type": "synonym" }, { "name": "sodium channel and clathrin linker 1", "type": "synonym" }, { "name": "sodium channel-associated protein 1", "type": "synonym" } ], "gene_names": [ { "name": "Sclt1", "type": "recommended" }, { "name": "CAP-1A", "type": "synonym" }, { "name": "Sap1", "type": "synonym" }, { "name": "Sclt1", "type": "synonym" } ], "record_id": "Q8CJ99-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "F1LV01-1", "uniprot_ac": "F1LV01", "uniprot_id": "F1LV01_RAT", "refseq_ac": "NP_001178608", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "WD repeat-containing protein 19", "type": "recommended" }, { "name": "Intraflagellar transport 144 homolog", "type": "synonym" }, { "name": "WD repeat-containing protein 19", "type": "synonym" } ], "gene_names": [ { "name": "Wdr19", "type": "recommended" }, { "name": "RGD1306997", "type": "synonym" }, { "name": "Wdr19", "type": "synonym" } ], "record_id": "F1LV01-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "A0ABK0LGI9-1", "uniprot_ac": "A0ABK0LGI9", "uniprot_id": "A0ABK0LGI9_RAT", "refseq_ac": "NP_001419074", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Kinesin family member 7", "type": "synonym" }, { "name": "kinesin-like protein KIF7 isoform 1", "type": "synonym" }, { "name": "kinesin-like protein KIF7", "type": "synonym" } ], "gene_names": [ { "name": "Kif7", "type": "recommended" }, { "name": "Kif7", "type": "synonym" } ], "record_id": "A0ABK0LGI9-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "A0A8I6ACB1-1", "uniprot_ac": "A0A8I6ACB1", "uniprot_id": "A0A8I6ACB1_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": "WD repeat-containing protein 11", "type": "recommended" }, { "name": "Bromodomain and WD repeat-containing protein 2", "type": "synonym" } ], "gene_names": [ { "name": "Wdr11", "type": "recommended" } ], "record_id": "A0A8I6ACB1-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q3B756-1", "uniprot_ac": "Q3B756", "uniprot_id": "FUZZY_RAT", "refseq_ac": "NP_001032735", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Protein fuzzy homolog", "type": "recommended" }, { "name": "protein fuzzy homolog isoform 2", "type": "synonym" }, { "name": "protein fuzzy homolog", "type": "synonym" } ], "gene_names": [ { "name": "Fuz", "type": "recommended" }, { "name": "Fuz", "type": "synonym" }, { "name": "RGD1310608", "type": "synonym" } ], "record_id": "Q3B756-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "P97571-1", "uniprot_ac": "P97571", "uniprot_id": "CAN1_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": "Calpain-1 catalytic subunit", "type": "recommended" }, { "name": "3.4.22.52", "type": "synonym" }, { "name": "CANP 1", "type": "synonym" }, { "name": "Calcium-activated neutral proteinase 1", "type": "synonym" }, { "name": "Calpain mu-type", "type": "synonym" }, { "name": "Calpain-1 large subunit", "type": "synonym" }, { "name": "Micromolar-calpain", "type": "synonym" }, { "name": "muCANP", "type": "synonym" } ], "gene_names": [ { "name": "Capn1", "type": "recommended" }, { "name": "Cls1", "type": "synonym" } ], "record_id": "P97571-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q03042-1", "uniprot_ac": "Q03042", "uniprot_id": "KGP1_DROME", "refseq_ac": "NP_477213", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "cGMP-dependent protein kinase, isozyme 1", "type": "recommended" }, { "name": "2.7.11.12", "type": "synonym" }, { "name": "CG3324-PA", "type": "synonym" }, { "name": "Pkg21D-PA", "type": "synonym" }, { "name": "cGK", "type": "synonym" }, { "name": "cGMP-dependent protein kinase 21D", "type": "synonym" }, { "name": "protein kinase, cGMP-dependent at 21D", "type": "synonym" } ], "gene_names": [ { "name": "Pkg21D", "type": "recommended" }, { "name": "CG3324", "type": "synonym" }, { "name": "DG1", "type": "synonym" }, { "name": "Dg1", "type": "synonym" }, { "name": "Dmel\\CG3324", "type": "synonym" }, { "name": "PKG 21D", "type": "synonym" }, { "name": "PKG-21D", "type": "synonym" }, { "name": "PKG1", "type": "synonym" }, { "name": "PKG21D", "type": "synonym" }, { "name": "PKG", "type": "synonym" }, { "name": "Pkg1", "type": "synonym" }, { "name": "Pkg21D", "type": "synonym" }, { "name": "cGMP", "type": "synonym" }, { "name": "dg1", "type": "synonym" }, { "name": "pkg21D", "type": "synonym" } ], "record_id": "Q03042-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "A1ZAV1-1", "uniprot_ac": "A1ZAV1", "uniprot_id": "C2D2A_DROME", "refseq_ac": "NP_611229", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Coiled-coil and C2 domain-containing protein 2A", "type": "recommended" }, { "name": "CG43370-PD", "type": "synonym" }, { "name": "Cc2d2a-PD", "type": "synonym" }, { "name": "Coiled-coil and C2 domain containing 2A", "type": "synonym" } ], "gene_names": [ { "name": "Cc2d2a", "type": "recommended" }, { "name": "CC2D2A", "type": "synonym" }, { "name": "CG18432", "type": "synonym" }, { "name": "CG18631", "type": "synonym" }, { "name": "CG43370", "type": "synonym" }, { "name": "Cc2d2a", "type": "synonym" }, { "name": "Dmel\\CG43370", "type": "synonym" }, { "name": "MKS6", "type": "synonym" }, { "name": "Mks6", "type": "synonym" }, { "name": "cc2d2a", "type": "synonym" } ], "record_id": "A1ZAV1-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "A1ZBH7-1", "uniprot_ac": "A1ZBH7", "uniprot_id": "A1ZBH7_DROME", "refseq_ac": "NP_725863", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "non-specific serine/threonine protein kinase", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "CG7097-PA", "type": "synonym" }, { "name": "gene 2", "type": "synonym" }, { "name": "happy hour", "type": "synonym" }, { "name": "happyhour, isoform A", "type": "synonym" }, { "name": "happyhour", "type": "synonym" }, { "name": "hppy-PA", "type": "synonym" }, { "name": "lethal (2) SH1261", "type": "synonym" } ], "gene_names": [ { "name": "hppy", "type": "recommended" }, { "name": "CG7097/hppy", "type": "synonym" }, { "name": "CG7097", "type": "synonym" }, { "name": "Dmel\\CG7097", "type": "synonym" }, { "name": "Dmel_CG7097", "type": "synonym" }, { "name": "EP-704", "type": "synonym" }, { "name": "GLK/KHS1", "type": "synonym" }, { "name": "Hppy", "type": "synonym" }, { "name": "KHS1", "type": "synonym" }, { "name": "MAP4K3", "type": "synonym" }, { "name": "anon-WO0153538.68", "type": "synonym" }, { "name": "hppy", "type": "synonym" }, { "name": "l(2)SH1261", "type": "synonym" }, { "name": "l(2)SH2 1261", "type": "synonym" } ], "record_id": "A1ZBH7-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q9I7P3-1", "uniprot_ac": "Q9I7P3", "uniprot_id": "Q9I7P3_DROME", "refseq_ac": "NP_649499", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "BBSome complex member BBS5", "type": "recommended" }, { "name": "BBS5-PA", "type": "synonym" }, { "name": "Bardet-Biedl syndrome 5", "type": "synonym" }, { "name": "CG1126-PA", "type": "synonym" } ], "gene_names": [ { "name": "BBS5", "type": "recommended" }, { "name": "BBS5", "type": "synonym" }, { "name": "CG1126", "type": "synonym" }, { "name": "Dmel\\CG1126", "type": "synonym" }, { "name": "Dmel_CG1126", "type": "synonym" } ], "record_id": "Q9I7P3-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q9VYM3-1", "uniprot_ac": "Q9VYM3", "uniprot_id": "MKS1_DROME", "refseq_ac": "NP_572804", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Tectonic-like complex member Mks1", "type": "recommended" }, { "name": "CG15730-PA", "type": "synonym" }, { "name": "Meckel syndrome type 1 protein homolog", "type": "synonym" }, { "name": "Mks1-PA", "type": "synonym" }, { "name": "meckel syndrome, type 1 homologue", "type": "synonym" }, { "name": "meckel syndrome, type 1", "type": "synonym" } ], "gene_names": [ { "name": "Mks1", "type": "recommended" }, { "name": "B9d3", "type": "synonym" }, { "name": "CG15730", "type": "synonym" }, { "name": "Dmel\\CG15730", "type": "synonym" }, { "name": "MKS1", "type": "synonym" }, { "name": "Mks1", "type": "synonym" }, { "name": "dMks1", "type": "synonym" }, { "name": "mks1", "type": "synonym" } ], "record_id": "Q9VYM3-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q9VPK5-1", "uniprot_ac": "Q9VPK5", "uniprot_id": "Q9VPK5_DROME", "refseq_ac": "NP_608498", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "TOG domain-containing protein", "type": "recommended" }, { "name": "CG42399-PB", "type": "synonym" }, { "name": "uncharacterized protein, isoform B", "type": "synonym" } ], "gene_names": [ { "name": "CG11620", "type": "recommended" }, { "name": "CG11620", "type": "synonym" }, { "name": "CG42399", "type": "synonym" }, { "name": "CG4648", "type": "synonym" }, { "name": "Dmel\\CG42399", "type": "synonym" }, { "name": "Dmel_CG42399", "type": "synonym" } ], "record_id": "Q9VPK5-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "M9MRD5-1", "uniprot_ac": "M9MRD5", "uniprot_id": "B9D2_DROME", "refseq_ac": "NP_001188704", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "B9 domain-containing protein 2", "type": "recommended" }, { "name": "B9d2-PA", "type": "synonym" }, { "name": "B9d2", "type": "synonym" }, { "name": "CG42730-PA", "type": "synonym" }, { "name": "MKS1-related protein 2", "type": "synonym" } ], "gene_names": [ { "name": "B9d2", "type": "recommended" }, { "name": "B9D2", "type": "synonym" }, { "name": "B9d2", "type": "synonym" }, { "name": "CG42730", "type": "synonym" }, { "name": "CG9227", "type": "synonym" }, { "name": "Dmel\\CG42730", "type": "synonym" } ], "record_id": "M9MRD5-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q9VQS5-1", "uniprot_ac": "Q9VQS5", "uniprot_id": "IFT57_DROME", "refseq_ac": "NP_608792", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Intraflagellar transport protein 57 homolog", "type": "recommended" }, { "name": "CG8853-PA", "type": "synonym" }, { "name": "Che-13 ortholog", "type": "synonym" }, { "name": "IFT57-PA", "type": "synonym" }, { "name": "hippi", "type": "synonym" }, { "name": "intraflagellar transport 57", "type": "synonym" } ], "gene_names": [ { "name": "IFT57", "type": "recommended" }, { "name": "CG8853", "type": "synonym" }, { "name": "CHE-13", "type": "synonym" }, { "name": "Che-13", "type": "synonym" }, { "name": "Dmel\\CG8853", "type": "synonym" }, { "name": "Hippi", "type": "synonym" }, { "name": "IFT55", "type": "synonym" }, { "name": "IFT57", "type": "synonym" }, { "name": "che-13", "type": "synonym" } ], "record_id": "Q9VQS5-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q9VPP9-1", "uniprot_ac": "Q9VPP9", "uniprot_id": "Q9VPP9_DROME", "refseq_ac": "NP_608524", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "BBS8-PA", "type": "synonym" }, { "name": "Bardet-Biedl syndrome 8 ortholog", "type": "synonym" }, { "name": "Bardet-Biedl syndrome 8", "type": "synonym" }, { "name": "CG13691-PA", "type": "synonym" } ], "gene_names": [ { "name": "BBS8", "type": "recommended" }, { "name": "BBS2", "type": "synonym" }, { "name": "BBS8", "type": "synonym" }, { "name": "CG13691", "type": "synonym" }, { "name": "Dmel\\CG13691", "type": "synonym" }, { "name": "Dmel_CG13691", "type": "synonym" } ], "record_id": "Q9VPP9-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q9VF59-1", "uniprot_ac": "Q9VF59", "uniprot_id": "B9D1_DROME", "refseq_ac": "NP_650470", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "B9 domain-containing protein 1", "type": "recommended" }, { "name": "B9d1-PA", "type": "synonym" }, { "name": "B9d1", "type": "synonym" }, { "name": "CG14870-PA", "type": "synonym" }, { "name": "MKS1-related protein 1", "type": "synonym" } ], "gene_names": [ { "name": "B9d1", "type": "recommended" }, { "name": "B9D1", "type": "synonym" }, { "name": "B9d1", "type": "synonym" }, { "name": "CG14870", "type": "synonym" }, { "name": "Dmel\\CG14870", "type": "synonym" } ], "record_id": "Q9VF59-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "A1ZBK9-1", "uniprot_ac": "A1ZBK9", "uniprot_id": "A1ZBK9_DROME", "refseq_ac": "NP_611421", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "ADP-ribosylation factor-like protein 6", "type": "recommended" }, { "name": "ADP ribosylation factor-like 6, isoform A", "type": "synonym" }, { "name": "Arl6-PA", "type": "synonym" }, { "name": "CG7735-PA", "type": "synonym" } ], "gene_names": [ { "name": "Arl6", "type": "recommended" }, { "name": "A1ZBK9", "type": "synonym" }, { "name": "ARL6", "type": "synonym" }, { "name": "Arl6", "type": "synonym" }, { "name": "BBS3", "type": "synonym" }, { "name": "CG7735", "type": "synonym" }, { "name": "Dmel\\CG7735", "type": "synonym" }, { "name": "Dmel_CG7735", "type": "synonym" } ], "record_id": "A1ZBK9-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q9VII8-1", "uniprot_ac": "Q9VII8", "uniprot_id": "Q9VII8_DROME", "refseq_ac": "NP_610064", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG9333-PB", "type": "synonym" }, { "name": "Oseg5-PB", "type": "synonym" }, { "name": "Outer segment 5", "type": "synonym" }, { "name": "outer segment 5", "type": "synonym" } ], "gene_names": [ { "name": "Oseg5", "type": "recommended" }, { "name": "CG9333", "type": "synonym" }, { "name": "CHE-2", "type": "synonym" }, { "name": "Che-2", "type": "synonym" }, { "name": "Dmel\\CG9333", "type": "synonym" }, { "name": "Dmel_CG9333", "type": "synonym" }, { "name": "IFT80", "type": "synonym" }, { "name": "OSEG5", "type": "synonym" }, { "name": "OSEG", "type": "synonym" }, { "name": "Oseg5", "type": "synonym" }, { "name": "oseg5", "type": "synonym" } ], "record_id": "Q9VII8-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q7KUM9-1", "uniprot_ac": "Q7KUM9", "uniprot_id": "Q7KUM9_DROME", "refseq_ac": "NP_996092", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Tctex1 domain-containing protein 2", "type": "recommended" }, { "name": "CG7276-PB", "type": "synonym" }, { "name": "uncharacterized protein", "type": "synonym" } ], "gene_names": [ { "name": "Dmel\\CG7276", "type": "recommended" }, { "name": "CG7276", "type": "synonym" }, { "name": "Dmel\\CG7276", "type": "synonym" }, { "name": "Dmel_CG7276", "type": "synonym" } ], "record_id": "Q7KUM9-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "A0A0B4KGJ7-1", "uniprot_ac": "A0A0B4KGJ7", "uniprot_id": "A0A0B4KGJ7_DROME", "refseq_ac": "NP_001262769", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Meckelin", "type": "recommended" }, { "name": "CG15923-PC", "type": "synonym" }, { "name": "uncharacterized protein, isoform C", "type": "synonym" } ], "gene_names": [ { "name": "Dmel\\CG15923", "type": "recommended" }, { "name": "CG15923", "type": "synonym" }, { "name": "Dmel\\CG15923", "type": "synonym" }, { "name": "Dmel_CG15923", "type": "synonym" } ], "record_id": "A0A0B4KGJ7-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q9W0M1-1", "uniprot_ac": "Q9W0M1", "uniprot_id": "CE290_DROME", "refseq_ac": "NP_001261227", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Centrosomal protein Cep290", "type": "recommended" }, { "name": "CG13889-PB", "type": "synonym" }, { "name": "Cep290-PB", "type": "synonym" }, { "name": "centrosomal protein 290kDa, isoform B", "type": "synonym" }, { "name": "cep290", "type": "synonym" } ], "gene_names": [ { "name": "Cep290", "type": "recommended" }, { "name": "CEP290", "type": "synonym" }, { "name": "CG13889", "type": "synonym" }, { "name": "Cep290", "type": "synonym" }, { "name": "Dmel\\CG13889", "type": "synonym" }, { "name": "Q9W0M1_DROME", "type": "synonym" }, { "name": "cep290", "type": "synonym" } ], "record_id": "Q9W0M1-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q9W0U9-1", "uniprot_ac": "Q9W0U9", "uniprot_id": "Q9W0U9_DROME", "refseq_ac": "NP_728477", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Dynein axonemal intermediate chain 4", "type": "recommended" }, { "name": "CG7051-PA", "type": "synonym" }, { "name": "Dic61B-PA", "type": "synonym" }, { "name": "WD repeat-containing protein 78", "type": "synonym" }, { "name": "dynein intermediate chain at 61B, isoform A", "type": "synonym" }, { "name": "male sterile (3) 21", "type": "synonym" } ], "gene_names": [ { "name": "Dic61B", "type": "recommended" }, { "name": "CG7051", "type": "synonym" }, { "name": "Dic61B", "type": "synonym" }, { "name": "Dmel\\CG7051", "type": "synonym" }, { "name": "Dmel_CG7051", "type": "synonym" }, { "name": "ms(3)21", "type": "synonym" }, { "name": "ms", "type": "synonym" } ], "record_id": "Q9W0U9-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q94514-1", "uniprot_ac": "Q94514", "uniprot_id": "COX5A_DROME", "refseq_ac": "NP_001262488", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Cytochrome c oxidase subunit 5A, mitochondrial", "type": "recommended" }, { "name": "CG14724-PC", "type": "synonym" }, { "name": "COX5A-PC", "type": "synonym" }, { "name": "Cytochrome c oxidase polypeptide Va", "type": "synonym" }, { "name": "complex IV", "type": "synonym" }, { "name": "cytochrome c oxidase Va, mt precursor", "type": "synonym" }, { "name": "cytochrome c oxidase polypeptide Va", "type": "synonym" }, { "name": "cytochrome c oxidase subunit 5A, isoform C", "type": "synonym" }, { "name": "cytochrome c oxidase subunit Va preprotein", "type": "synonym" }, { "name": "cytochrome oxidase Va", "type": "synonym" }, { "name": "cytochrome oxidase subunit Va", "type": "synonym" }, { "name": "cytochrome-c oxidase subunit Va", "type": "synonym" }, { "name": "subunit 5A", "type": "synonym" }, { "name": "subunit Va of complex IV", "type": "synonym" }, { "name": "tenured", "type": "synonym" } ], "gene_names": [ { "name": "COX5A", "type": "recommended" }, { "name": "CG14724", "type": "synonym" }, { "name": "COX-5A", "type": "synonym" }, { "name": "COX5A", "type": "synonym" }, { "name": "COX5a", "type": "synonym" }, { "name": "COXA_DROME", "type": "synonym" }, { "name": "COXA", "type": "synonym" }, { "name": "COX", "type": "synonym" }, { "name": "CoVa", "type": "synonym" }, { "name": "Cox5a", "type": "synonym" }, { "name": "Dmel\\CG14724", "type": "synonym" }, { "name": "Dmel_CG14724", "type": "synonym" }, { "name": "Q94514", "type": "synonym" }, { "name": "Va", "type": "synonym" }, { "name": "cova", "type": "synonym" }, { "name": "cox5A", "type": "synonym" }, { "name": "mito", "type": "synonym" }, { "name": "tend", "type": "synonym" } ], "record_id": "Q94514-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q9VK95-1", "uniprot_ac": "Q9VK95", "uniprot_id": "Q9VK95_DROME", "refseq_ac": "NP_609561", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG6504-PA", "type": "synonym" }, { "name": "Pkd2-PA", "type": "synonym" }, { "name": "Polycystic kidney disease 2", "type": "synonym" }, { "name": "almost there", "type": "synonym" }, { "name": "polycystic kidney disease 2 ortholog", "type": "synonym" }, { "name": "polycystic kidney disease 2", "type": "synonym" }, { "name": "polycystic kidney disease gene-2", "type": "synonym" }, { "name": "polycystin-2", "type": "synonym" } ], "gene_names": [ { "name": "Pkd2", "type": "recommended" }, { "name": "AMO", "type": "synonym" }, { "name": "Amo", "type": "synonym" }, { "name": "CG6504", "type": "synonym" }, { "name": "Dmel\\CG6504", "type": "synonym" }, { "name": "Dmel_CG6504", "type": "synonym" }, { "name": "Dmpkd2", "type": "synonym" }, { "name": "PKD2", "type": "synonym" }, { "name": "Pkd2", "type": "synonym" }, { "name": "TRPP2", "type": "synonym" }, { "name": "TRPP", "type": "synonym" }, { "name": "amo", "type": "synonym" }, { "name": "pkd2", "type": "synonym" } ], "record_id": "Q9VK95-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q9VH45-1", "uniprot_ac": "Q9VH45", "uniprot_id": "Q9VH45_DROME", "refseq_ac": "NP_001163579", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG5359-PB", "type": "synonym" }, { "name": "Uncharacterized protein", "type": "synonym" }, { "name": "uncharacterized protein, isoform B", "type": "synonym" } ], "gene_names": [ { "name": "Dmel\\CG5359", "type": "recommended" }, { "name": "BcDNA:RE37471", "type": "synonym" }, { "name": "CG5359", "type": "synonym" }, { "name": "Dmel\\CG5359", "type": "synonym" }, { "name": "Dmel_CG5359", "type": "synonym" } ], "record_id": "Q9VH45-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q9W0A6-1", "uniprot_ac": "Q9W0A6", "uniprot_id": "Q9W0A6_DROME", "refseq_ac": "NP_647645", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Dynein axonemal intermediate chain 4", "type": "recommended" }, { "name": "CG13930-PA", "type": "synonym" }, { "name": "WD repeat-containing protein 78", "type": "synonym" }, { "name": "uncharacterized protein", "type": "synonym" } ], "gene_names": [ { "name": "Dmel\\CG13930", "type": "recommended" }, { "name": "CG13930", "type": "synonym" }, { "name": "Dmel\\CG13930", "type": "synonym" }, { "name": "Dmel_CG13930", "type": "synonym" } ], "record_id": "Q9W0A6-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "O97143-1", "uniprot_ac": "O97143", "uniprot_id": "PLK4_DROME", "refseq_ac": "NP_649324", "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 kinase PLK4", "type": "recommended" }, { "name": "2.7.11.21", "type": "synonym" }, { "name": "CG7186-PA", "type": "synonym" }, { "name": "PLK-4", "type": "synonym" }, { "name": "Polo-like kinase 4", "type": "synonym" }, { "name": "SAK-PA", "type": "synonym" }, { "name": "Sak kinase", "type": "synonym" }, { "name": "Serine/threonine-protein kinase SAK", "type": "synonym" } ], "gene_names": [ { "name": "SAK", "type": "recommended" }, { "name": "CG7186", "type": "synonym" }, { "name": "DSak", "type": "synonym" }, { "name": "DmPLK4", "type": "synonym" }, { "name": "DmPlk4", "type": "synonym" }, { "name": "DmSAK", "type": "synonym" }, { "name": "Dmel\\CG7186", "type": "synonym" }, { "name": "PLK4", "type": "synonym" }, { "name": "Plk4", "type": "synonym" }, { "name": "SAK/PLK4", "type": "synonym" }, { "name": "SAK/PLK", "type": "synonym" }, { "name": "SAK/Plk4", "type": "synonym" }, { "name": "SAK", "type": "synonym" }, { "name": "Sak/PLK4", "type": "synonym" }, { "name": "Sak/Plk4", "type": "synonym" }, { "name": "Sak", "type": "synonym" }, { "name": "plk4", "type": "synonym" }, { "name": "sak", "type": "synonym" } ], "record_id": "O97143-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "A0A0B4KEN4-1", "uniprot_ac": "A0A0B4KEN4", "uniprot_id": "A0A0B4KEN4_DROME", "refseq_ac": "NP_001260819", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Vang-like protein", "type": "recommended" }, { "name": "CG8075-PB", "type": "synonym" }, { "name": "Van Gogh/Strabismus", "type": "synonym" }, { "name": "Van gogh, isoform B", "type": "synonym" }, { "name": "VanGogh", "type": "synonym" }, { "name": "Vang-PB", "type": "synonym" }, { "name": "Vang-gogh", "type": "synonym" }, { "name": "sltrabismus", "type": "synonym" }, { "name": "strabismus", "type": "synonym" }, { "name": "van gogh", "type": "synonym" }, { "name": "van-gogh", "type": "synonym" }, { "name": "vang gogh", "type": "synonym" } ], "gene_names": [ { "name": "Vang", "type": "recommended" }, { "name": "CG8075", "type": "synonym" }, { "name": "Dmel\\CG8075", "type": "synonym" }, { "name": "Dmel_CG8075", "type": "synonym" }, { "name": "Stbm", "type": "synonym" }, { "name": "Stb", "type": "synonym" }, { "name": "Strabismus", "type": "synonym" }, { "name": "VANG", "type": "synonym" }, { "name": "Van Gogh", "type": "synonym" }, { "name": "Vang/Stbm", "type": "synonym" }, { "name": "Vangl", "type": "synonym" }, { "name": "Vang", "type": "synonym" }, { "name": "stbm/vang", "type": "synonym" }, { "name": "stbm", "type": "synonym" }, { "name": "stb", "type": "synonym" }, { "name": "strabismus/Van Gogh", "type": "synonym" }, { "name": "strabismus", "type": "synonym" }, { "name": "vang/stbm", "type": "synonym" }, { "name": "vangogh/strabismus", "type": "synonym" }, { "name": "vang", "type": "synonym" } ], "record_id": "A0A0B4KEN4-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q86PC9-1", "uniprot_ac": "Q86PC9", "uniprot_id": "TULP_DROME", "refseq_ac": "NP_611549", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Protein king tubby", "type": "recommended" }, { "name": "CG9398-PC", "type": "synonym" }, { "name": "Tubby-like", "type": "synonym" }, { "name": "dTULP", "type": "synonym" }, { "name": "king tubby, isoform C", "type": "synonym" }, { "name": "king tubby", "type": "synonym" }, { "name": "king-tubby", "type": "synonym" }, { "name": "ktub-PC", "type": "synonym" }, { "name": "tubby-like protein", "type": "synonym" } ], "gene_names": [ { "name": "ktub", "type": "recommended" }, { "name": "87D3S", "type": "synonym" }, { "name": "CG9398", "type": "synonym" }, { "name": "D-tulp", "type": "synonym" }, { "name": "Dmel\\CG9398", "type": "synonym" }, { "name": "Dtulp", "type": "synonym" }, { "name": "ESTS:87D3S", "type": "synonym" }, { "name": "King-Tubby", "type": "synonym" }, { "name": "King-tubby", "type": "synonym" }, { "name": "TULP", "type": "synonym" }, { "name": "Tulp", "type": "synonym" }, { "name": "dTULP", "type": "synonym" }, { "name": "dTulp", "type": "synonym" }, { "name": "king-tubby", "type": "synonym" }, { "name": "ktub", "type": "synonym" }, { "name": "tulp", "type": "synonym" } ], "record_id": "Q86PC9-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q9VKJ9-1", "uniprot_ac": "Q9VKJ9", "uniprot_id": "C2D1_DROME", "refseq_ac": "NP_609488", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Coiled-coil and C2 domain-containing protein 1-like", "type": "recommended" }, { "name": "CG4713-PA", "type": "synonym" }, { "name": "Lethal (2) giant discs 1 protein", "type": "synonym" }, { "name": "l(2)gd1-PA", "type": "synonym" }, { "name": "leathal giant disc", "type": "synonym" }, { "name": "lethal (2) SH0495", "type": "synonym" }, { "name": "lethal (2) giant discs 1, isoform A", "type": "synonym" }, { "name": "lethal (2) giant discs", "type": "synonym" }, { "name": "lethal giant discs", "type": "synonym" }, { "name": "lethal(2) giant discs", "type": "synonym" }, { "name": "lethal(2)giant discs 1", "type": "synonym" } ], "gene_names": [ { "name": "l(2)gd1", "type": "recommended" }, { "name": "CG4713", "type": "synonym" }, { "name": "Dmel\\CG4713", "type": "synonym" }, { "name": "Dmel_CG4713", "type": "synonym" }, { "name": "Lgd", "type": "synonym" }, { "name": "SH495", "type": "synonym" }, { "name": "gd", "type": "synonym" }, { "name": "l(2)SH0495", "type": "synonym" }, { "name": "l(2)SH2 0495", "type": "synonym" }, { "name": "l(2)gd1", "type": "synonym" }, { "name": "l(2)gd", "type": "synonym" }, { "name": "l(2)giant disc", "type": "synonym" }, { "name": "l[[2]]gd", "type": "synonym" }, { "name": "lgd", "type": "synonym" } ], "record_id": "Q9VKJ9-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "O16844-1", "uniprot_ac": "O16844", "uniprot_id": "COS_DROME", "refseq_ac": "NP_001260765", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Kinesin-like protein costa", "type": "recommended" }, { "name": "CG1708-PB", "type": "synonym" }, { "name": "Costal-2", "type": "synonym" }, { "name": "DmCostal2", "type": "synonym" }, { "name": "Kinesin-like protein costal2", "type": "synonym" }, { "name": "Kinesin_B", "type": "synonym" }, { "name": "cos-PB", "type": "synonym" }, { "name": "costa, isoform B", "type": "synonym" }, { "name": "costal 2", "type": "synonym" }, { "name": "costal2", "type": "synonym" }, { "name": "costa", "type": "synonym" }, { "name": "enhancer of epaulette", "type": "synonym" } ], "gene_names": [ { "name": "cos", "type": "recommended" }, { "name": "28", "type": "synonym" }, { "name": "B", "type": "synonym" }, { "name": "CG1708", "type": "synonym" }, { "name": "COS2", "type": "synonym" }, { "name": "COS[2]", "type": "synonym" }, { "name": "Cos-2", "type": "synonym" }, { "name": "Cos2", "type": "synonym" }, { "name": "Cos[2]", "type": "synonym" }, { "name": "Costal2", "type": "synonym" }, { "name": "Cos", "type": "synonym" }, { "name": "DmCos2", "type": "synonym" }, { "name": "Dmel\\CG1708", "type": "synonym" }, { "name": "Dmel_CG1708", "type": "synonym" }, { "name": "KIF26A/B", "type": "synonym" }, { "name": "Kif7", "type": "synonym" }, { "name": "cos-2", "type": "synonym" }, { "name": "cos2", "type": "synonym" }, { "name": "costal-2", "type": "synonym" }, { "name": "cos", "type": "synonym" }, { "name": "l(2)161/28", "type": "synonym" }, { "name": "l(2)cos[[2]]", "type": "synonym" }, { "name": "l(2)k16101", "type": "synonym" }, { "name": "l(2)k16128", "type": "synonym" } ], "record_id": "O16844-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "A1ZBM3-1", "uniprot_ac": "A1ZBM3", "uniprot_id": "A1ZBM3_DROME", "refseq_ac": "NP_611426", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG11237-PA", "type": "synonym" }, { "name": "Oseg6-PA", "type": "synonym" }, { "name": "Outer segment 6", "type": "synonym" }, { "name": "outer segment 6", "type": "synonym" } ], "gene_names": [ { "name": "Oseg6", "type": "recommended" }, { "name": "CG11237", "type": "synonym" }, { "name": "Dmel\\CG11237", "type": "synonym" }, { "name": "Dmel_CG11237", "type": "synonym" }, { "name": "IFT144", "type": "synonym" }, { "name": "OSEG6", "type": "synonym" }, { "name": "OSEG", "type": "synonym" }, { "name": "Oseg6", "type": "synonym" }, { "name": "WDR19", "type": "synonym" }, { "name": "Wdr19", "type": "synonym" }, { "name": "oseg6", "type": "synonym" } ], "record_id": "A1ZBM3-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "O44783-1", "uniprot_ac": "O44783", "uniprot_id": "SPY_DROME", "refseq_ac": "NP_523902", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Protein sprouty", "type": "recommended" }, { "name": "CG1921-PB", "type": "synonym" }, { "name": "Spry", "type": "synonym" }, { "name": "calcineurin suppressor, chromosome 3, group 3", "type": "synonym" }, { "name": "dSprouty", "type": "synonym" }, { "name": "sprouty, isoform B", "type": "synonym" }, { "name": "sprouty", "type": "synonym" }, { "name": "sty-PB", "type": "synonym" } ], "gene_names": [ { "name": "sty", "type": "recommended" }, { "name": "CG1921", "type": "synonym" }, { "name": "CS3-3", "type": "synonym" }, { "name": "Dmel\\CG1921", "type": "synonym" }, { "name": "STY", "type": "synonym" }, { "name": "Spry", "type": "synonym" }, { "name": "Sry", "type": "synonym" }, { "name": "Sty", "type": "synonym" }, { "name": "dSPRY", "type": "synonym" }, { "name": "spry", "type": "synonym" }, { "name": "sty", "type": "synonym" } ], "record_id": "O44783-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "O16868-1", "uniprot_ac": "O16868", "uniprot_id": "FUZZY_DROME", "refseq_ac": "NP_001260250", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Protein fuzzy", "type": "recommended" }, { "name": "CG13396-PB", "type": "synonym" }, { "name": "fuzzy, isoform B", "type": "synonym" }, { "name": "fuzzy", "type": "synonym" }, { "name": "fy-PB", "type": "synonym" } ], "gene_names": [ { "name": "fuz", "type": "recommended" }, { "name": "fy", "type": "recommended" }, { "name": "CG13396", "type": "synonym" }, { "name": "Dmel\\CG13396", "type": "synonym" }, { "name": "Dmel_CG13396", "type": "synonym" }, { "name": "FY", "type": "synonym" }, { "name": "Fy", "type": "synonym" }, { "name": "fuzzy", "type": "synonym" }, { "name": "fy", "type": "synonym" } ], "record_id": "O16868-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q8TAM2-1", "uniprot_ac": "Q8TAM2", "uniprot_id": "TTC8_HUMAN", "refseq_ac": "NP_001275710", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Tetratricopeptide repeat protein 8", "type": "recommended" }, { "name": "Bardet-Biedl syndrome 8 protein", "type": "synonym" }, { "name": "Bardet-Biedl syndrome type 8", "type": "synonym" }, { "name": "TPR repeat protein 8", "type": "synonym" }, { "name": "tetratricopeptide repeat protein 8 isoform D", "type": "synonym" } ], "gene_names": [ { "name": "TTC8", "type": "recommended" }, { "name": "BBS8", "type": "synonym" }, { "name": "RP51", "type": "synonym" }, { "name": "TTC8", "type": "synonym" } ], "record_id": "Q8TAM2-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q9NXB0-1", "uniprot_ac": "Q9NXB0", "uniprot_id": "MKS1_HUMAN", "refseq_ac": "NP_001308197", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Tectonic-like complex member MKS1", "type": "recommended" }, { "name": "Meckel syndrome type 1 protein", "type": "synonym" }, { "name": "POC12 centriolar protein homolog", "type": "synonym" }, { "name": "meckel syndrome type 1 protein", "type": "synonym" }, { "name": "tectonic-like complex member MKS1 isoform 3", "type": "synonym" }, { "name": "tectonic-like complex member MKS1", "type": "synonym" } ], "gene_names": [ { "name": "MKS1", "type": "recommended" }, { "name": "BBS13", "type": "synonym" }, { "name": "JBTS28", "type": "synonym" }, { "name": "MES", "type": "synonym" }, { "name": "MKS1", "type": "synonym" }, { "name": "MKS", "type": "synonym" }, { "name": "POC12", "type": "synonym" } ], "record_id": "Q9NXB0-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q9UPM9-1", "uniprot_ac": "Q9UPM9", "uniprot_id": "B9D1_HUMAN", "refseq_ac": "NP_001308145", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "B9 domain-containing protein 1", "type": "recommended" }, { "name": "B9 domain-containing protein 1 isoform f", "type": "synonym" }, { "name": "B9 domain-containing protein 1", "type": "synonym" }, { "name": "B9 protein domain 1", "type": "synonym" }, { "name": "MKS1-related protein 1", "type": "synonym" }, { "name": "endothelial precursor protein B9", "type": "synonym" } ], "gene_names": [ { "name": "B9D1", "type": "recommended" }, { "name": "B9D1", "type": "synonym" }, { "name": "B9", "type": "synonym" }, { "name": "EPPB9", "type": "synonym" }, { "name": "JBTS27", "type": "synonym" }, { "name": "MKS9", "type": "synonym" }, { "name": "MKSR-1", "type": "synonym" }, { "name": "MKSR1", "type": "synonym" } ], "record_id": "Q9UPM9-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q13976-1", "uniprot_ac": "Q13976", "uniprot_id": "KGP1_HUMAN", "refseq_ac": "NP_001091982", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "cGMP-dependent protein kinase 1", "type": "recommended" }, { "name": "2.7.11.12", "type": "synonym" }, { "name": "cGK 1", "type": "synonym" }, { "name": "cGK1", "type": "synonym" }, { "name": "cGKI", "type": "synonym" }, { "name": "cGMP-dependent protein kinase 1 isoform 1", "type": "synonym" }, { "name": "cGMP-dependent protein kinase 1", "type": "synonym" }, { "name": "cGMP-dependent protein kinase I", "type": "synonym" }, { "name": "protein kinase, cGMP-dependent, regulatory, type I, beta", "type": "synonym" }, { "name": "protein kinase, cGMP-dependent, type I", "type": "synonym" } ], "gene_names": [ { "name": "PRKG1", "type": "recommended" }, { "name": "AAT8", "type": "synonym" }, { "name": "PKG1", "type": "synonym" }, { "name": "PKG", "type": "synonym" }, { "name": "PRKG1B", "type": "synonym" }, { "name": "PRKG1", "type": "synonym" }, { "name": "PRKGR1A", "type": "synonym" }, { "name": "PRKGR1B", "type": "synonym" }, { "name": "cGK 1", "type": "synonym" }, { "name": "cGK1", "type": "synonym" }, { "name": "cGKI-BETA", "type": "synonym" }, { "name": "cGKI-alpha", "type": "synonym" }, { "name": "cGKI", "type": "synonym" }, { "name": "cGK", "type": "synonym" } ], "record_id": "Q13976-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q9H0F7-1", "uniprot_ac": "Q9H0F7", "uniprot_id": "ARL6_HUMAN", "refseq_ac": "NP_001265222", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "ADP-ribosylation factor-like protein 6", "type": "recommended" }, { "name": "ADP ribosylation factor like GTPase 6", "type": "synonym" }, { "name": "ADP-ribosylation factor-like protein 6 isoform 1", "type": "synonym" }, { "name": "ARL6 interacting reticulophagy regulator 1", "type": "synonym" }, { "name": "Bardet-Biedl syndrome 3 protein", "type": "synonym" } ], "gene_names": [ { "name": "ARL6", "type": "recommended" }, { "name": "ARL6", "type": "synonym" }, { "name": "BBS3", "type": "synonym" }, { "name": "RP55", "type": "synonym" } ], "record_id": "Q9H0F7-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q9Y4K4-1", "uniprot_ac": "Q9Y4K4", "uniprot_id": "M4K5_HUMAN", "refseq_ac": "NP_006566", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Mitogen-activated protein kinase kinase kinase kinase 5", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "KHS", "type": "synonym" }, { "name": "Kinase homologous to SPS1/STE20", "type": "synonym" }, { "name": "MAPK/ERK kinase kinase kinase 5", "type": "synonym" }, { "name": "MEK kinase kinase 5", "type": "synonym" }, { "name": "MEKKK 5", "type": "synonym" }, { "name": "germinal center kinase-related", "type": "synonym" }, { "name": "kinase homologous to SPS1/STE20", "type": "synonym" }, { "name": "mitogen-activated protein kinase kinase kinase kinase 5", "type": "synonym" } ], "gene_names": [ { "name": "MAP4K5", "type": "recommended" }, { "name": "GCKR", "type": "synonym" }, { "name": "KHS1", "type": "synonym" }, { "name": "KHS", "type": "synonym" }, { "name": "MAP4K5", "type": "synonym" }, { "name": "MAPKKKK5", "type": "synonym" } ], "record_id": "Q9Y4K4-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q6DHV5-5", "uniprot_ac": "Q6DHV5", "uniprot_id": "C2D2B_HUMAN", "refseq_ac": "NP_001001732", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Protein CC2D2B", "type": "recommended" }, { "name": "protein CC2D2B isoform 2", "type": "synonym" }, { "name": "protein CC2D2B", "type": "synonym" }, { "name": "uncharacterized protein C10orf131", "type": "synonym" } ], "gene_names": [ { "name": "CC2D2B", "type": "recommended" }, { "name": "C10orf130", "type": "synonym" }, { "name": "C10orf131", "type": "synonym" }, { "name": "CC2D2B", "type": "synonym" } ], "record_id": "Q6DHV5-5", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q9P2K1-4", "uniprot_ac": "Q9P2K1", "uniprot_id": "C2D2A_HUMAN", "refseq_ac": "NP_001073991", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Coiled-coil and C2 domain-containing protein 2A", "type": "recommended" }, { "name": "coiled-coil and C2 domain-containing protein 2A isoform a", "type": "synonym" }, { "name": "coiled-coil and C2 domain-containing protein 2A", "type": "synonym" } ], "gene_names": [ { "name": "CC2D2A", "type": "recommended" }, { "name": "CC2D2A", "type": "synonym" }, { "name": "COACH2", "type": "synonym" }, { "name": "JBTS9", "type": "synonym" }, { "name": "KIAA1345", "type": "synonym" }, { "name": "MKS6", "type": "synonym" }, { "name": "RP93", "type": "synonym" } ], "record_id": "Q9P2K1-4", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "O75161-1", "uniprot_ac": "O75161", "uniprot_id": "NPHP4_HUMAN", "refseq_ac": "NP_001278522", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Nephrocystin-4", "type": "recommended" }, { "name": "Nephroretinin", "type": "synonym" }, { "name": "POC10 centriolar protein homolog", "type": "synonym" }, { "name": "nephrocystin-4 isoform b", "type": "synonym" }, { "name": "nephroretinin", "type": "synonym" } ], "gene_names": [ { "name": "NPHP4", "type": "recommended" }, { "name": "KIAA0673", "type": "synonym" }, { "name": "NPHP4", "type": "synonym" }, { "name": "POC10", "type": "synonym" }, { "name": "SLSN4", "type": "synonym" } ], "record_id": "O75161-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q9BPU9-1", "uniprot_ac": "Q9BPU9", "uniprot_id": "B9D2_HUMAN", "refseq_ac": "NP_085055", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "B9 domain-containing protein 2", "type": "recommended" }, { "name": "B9 domain-containing protein 2", "type": "synonym" }, { "name": "B9 protein domain 2", "type": "synonym" }, { "name": "MKS1-related protein 2", "type": "synonym" }, { "name": "involved in cIlia stability-1", "type": "synonym" } ], "gene_names": [ { "name": "B9D2", "type": "recommended" }, { "name": "B9D2", "type": "synonym" }, { "name": "ICIS-1", "type": "synonym" }, { "name": "JBTS34", "type": "synonym" }, { "name": "MKS10", "type": "synonym" }, { "name": "MKSR-2", "type": "synonym" }, { "name": "MKSR2", "type": "synonym" } ], "record_id": "Q9BPU9-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q9NWB7-1", "uniprot_ac": "Q9NWB7", "uniprot_id": "IFT57_HUMAN", "refseq_ac": "NP_060480", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Intraflagellar transport protein 57 homolog", "type": "recommended" }, { "name": "Dermal papilla-derived protein 8", "type": "synonym" }, { "name": "Estrogen-related receptor beta-like protein 1", 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"https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "O15078-1", "uniprot_ac": "O15078", "uniprot_id": "CE290_HUMAN", "refseq_ac": "NP_079390", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Centrosomal protein of 290 kDa", "type": "recommended" }, { "name": "Bardet-Biedl syndrome 14 protein", "type": "synonym" }, { "name": "CT87", "type": "synonym" }, { "name": "CTCL tumor antigen se2-2", "type": "synonym" }, { "name": "Cancer/testis antigen 87", "type": "synonym" }, { "name": "Cep290", "type": "synonym" }, { "name": "Meckel syndrome, type 4", "type": "synonym" }, { "name": "Nephrocystin-6", "type": "synonym" }, { "name": "POC3 centriolar protein homolog", "type": "synonym" }, { "name": "Tumor antigen se2-2", "type": "synonym" }, { "name": "cancer/testis antigen 87", "type": "synonym" }, { "name": "centrosomal protein 290kDa", "type": "synonym" }, { "name": "centrosomal protein of 290 kDa", "type": "synonym" }, { "name": "monoclonal antibody 3H11 antigen", "type": "synonym" }, { "name": "nephrocytsin-6", "type": "synonym" }, { "name": "prostate cancer antigen T21", "type": "synonym" } ], "gene_names": [ { "name": "CEP290", "type": "recommended" }, { "name": "3H11Ag", "type": "synonym" }, { "name": "BBS14", "type": "synonym" }, { "name": "CEP290", "type": "synonym" }, { "name": "CT87", "type": "synonym" }, { "name": "JBTS5", "type": "synonym" }, { "name": "KIAA0373", "type": "synonym" }, { "name": "LCA10", "type": "synonym" }, { "name": "MKS4", "type": "synonym" }, { "name": "NPHP6", "type": "synonym" }, { "name": "POC3", "type": "synonym" }, { "name": "SLSN6", "type": "synonym" }, { "name": "rd16", "type": "synonym" } ], "record_id": "O15078-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q9NPJ1-1", "uniprot_ac": "Q9NPJ1", "uniprot_id": "MKKS_HUMAN", "refseq_ac": "NP_061336", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Molecular chaperone MKKS", "type": "recommended" }, { "name": "Bardet-Biedl syndrome 6 protein", "type": "synonym" }, { "name": "McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin", "type": "synonym" }, { "name": "alternative protein MKKS", "type": "synonym" }, { "name": "molecular chaperone MKKS", "type": "synonym" } ], "gene_names": [ { "name": "MKKS", "type": "recommended" }, { "name": "BBS6", "type": "synonym" }, { "name": "HMCS", "type": "synonym" }, { "name": "KMS", "type": "synonym" }, { "name": "MKKS", "type": "synonym" }, { "name": "MKS", "type": "synonym" } ], "record_id": "Q9NPJ1-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q5VTH9-1", "uniprot_ac": "Q5VTH9", "uniprot_id": "DNAI4_HUMAN", "refseq_ac": "NP_079039", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Dynein axonemal intermediate chain 4", "type": "recommended" }, { "name": "WD repeat domain 78", "type": "synonym" }, { "name": "WD repeat-containing protein 78", "type": "synonym" }, { "name": "dynein axonemal intermediate chain 4 isoform 1", "type": "synonym" }, { "name": "dynein intermediate chain 4, axonemal", "type": "synonym" } ], "gene_names": [ { "name": "DNAI4", "type": "recommended" }, { "name": "DIC4", "type": "synonym" }, { "name": "DNAI4", "type": "synonym" }, { "name": "WDR78", "type": "synonym" } ], "record_id": "Q5VTH9-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "O00444-1", "uniprot_ac": "O00444", "uniprot_id": "PLK4_HUMAN", "refseq_ac": "NP_001177728", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Serine/threonine-protein kinase PLK4", "type": "recommended" }, { "name": "2.7.11.21", "type": "synonym" }, { "name": "PLK-4", "type": "synonym" }, { "name": "Polo-like kinase 4", "type": "synonym" }, { "name": "Serine/threonine-protein kinase 18", "type": "synonym" }, { "name": "Serine/threonine-protein kinase Sak", "type": "synonym" }, { "name": "Snk akin kinase", "type": "synonym" }, { "name": "serine/threonine-protein kinase 18", "type": "synonym" }, { "name": "serine/threonine-protein kinase PLK4 isoform 2", "type": "synonym" }, { "name": "serine/threonine-protein kinase PLK4", "type": "synonym" }, { "name": "serine/threonine-protein kinase Sak", "type": "synonym" } ], "gene_names": [ { "name": "PLK4", "type": "recommended" }, { "name": "MCCRP2", "type": "synonym" }, { "name": "PLK4", "type": "synonym" }, { "name": "SAK", "type": "synonym" }, { "name": "STK18", "type": "synonym" } ], "record_id": "O00444-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "P20674-1", "uniprot_ac": "P20674", "uniprot_id": "COX5A_HUMAN", "refseq_ac": "NP_004246", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Cytochrome c oxidase subunit 5A, mitochondrial", "type": "recommended" }, { "name": "Cytochrome c oxidase polypeptide Va", "type": "synonym" }, { "name": "cytochrome c oxidase polypeptide Va", "type": "synonym" }, { "name": "cytochrome c oxidase polypeptide, mitochondrial", "type": "synonym" }, { "name": "cytochrome c oxidase subunit 5A, mitochondrial precursor", "type": "synonym" }, { "name": "cytochrome c oxidase subunit 5A, mitochondrial", "type": "synonym" }, { "name": "cytochrome c oxidase subunit Va", "type": "synonym" }, { "name": "mitochondrial cytochrome c oxidase subunit Va", "type": "synonym" } ], "gene_names": [ { "name": "COX5A", "type": "recommended" }, { "name": "COX-VA", "type": "synonym" }, { "name": "COX5A", "type": "synonym" }, { "name": "COX", "type": "synonym" }, { "name": "MC4DN20", "type": "synonym" }, { "name": "VA", "type": "synonym" } ], "record_id": "P20674-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "O14745-1", "uniprot_ac": "O14745", "uniprot_id": "NHRF1_HUMAN", "refseq_ac": "NP_004243", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Na(+)/H(+) exchange regulatory cofactor NHE-RF1", "type": "recommended" }, { "name": "EBP50", "type": "synonym" }, { "name": "Ezrin-radixin-moesin-binding phosphoprotein 50", "type": "synonym" }, { "name": "NHERF-1", "type": "synonym" }, { "name": "Na(+)/H(+) exchange regulatory cofactor 1", "type": "synonym" }, { "name": "Na(+)/H(+) exchange regulatory cofactor NHE-RF1", "type": "synonym" }, { "name": "Na+/H+ exchange regulatory co-factor", "type": "synonym" }, { "name": "Regulatory cofactor of Na(+)/H(+) exchanger", "type": "synonym" }, { "name": "SLC9A3 regulator 1", "type": "synonym" }, { "name": "Sodium-hydrogen exchanger regulatory factor 1", "type": "synonym" }, { "name": "Solute carrier family 9 isoform A3 regulatory factor 1", "type": "synonym" }, { "name": "ezrin-radixin-moesin binding phosphoprotein-50", "type": "synonym" }, { "name": "regulatory cofactor of Na(+)/H(+) exchanger", "type": "synonym" }, { "name": "solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1", "type": "synonym" } ], "gene_names": [ { "name": "NHERF1", "type": "recommended" }, { "name": "EBP50", "type": "synonym" }, { "name": "NHE-RF", "type": "synonym" }, { "name": "NHERF-1", "type": "synonym" }, { "name": "NHERF1", "type": "synonym" }, { "name": "NHERF", "type": "synonym" }, { "name": "NPHLOP2", "type": "synonym" }, { "name": "SLC9A3R1", "type": "synonym" } ], "record_id": "O14745-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q9ULK5-1", "uniprot_ac": "Q9ULK5", "uniprot_id": "VANG2_HUMAN", "refseq_ac": "NP_065068", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Vang-like protein 2", "type": "recommended" }, { "name": "Loop-tail protein 1 homolog", "type": "synonym" }, { "name": "Strabismus 1", "type": "synonym" }, { "name": "Van Gogh-like protein 2", "type": "synonym" }, { "name": "loop-tail protein 1 homolog", "type": "synonym" }, { "name": "loop-tail-associated protein", "type": "synonym" }, { "name": "strabismus 1", "type": "synonym" }, { "name": "van Gogh-like protein 2", "type": "synonym" }, { "name": "vang-like 2 (van gogh, Drosophila)", "type": "synonym" }, { "name": "vang-like protein 2", "type": "synonym" } ], "gene_names": [ { "name": "VANGL2", "type": "recommended" }, { "name": "KIAA1215", "type": "synonym" }, { "name": "LPP1", "type": "synonym" }, { "name": "LTAP", "type": "synonym" }, { "name": "STB1", "type": "synonym" }, { "name": "STBM1", "type": "synonym" }, { "name": "STBM", "type": "synonym" }, { "name": "VANGL2", "type": "synonym" } ], "record_id": "Q9ULK5-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q8WW35-1", "uniprot_ac": "Q8WW35", "uniprot_id": "DYT2B_HUMAN", "refseq_ac": "NP_689986", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Dynein light chain Tctex-type protein 2B", "type": "recommended" }, { "name": "Tctex1 domain containing 2", "type": "synonym" }, { "name": "Tctex1 domain-containing protein 2", "type": "synonym" }, { "name": "dynein light chain Tctex-type protein 2B isoform 2", "type": "synonym" }, { "name": "dynein light chain Tctex-type protein 2B", "type": "synonym" }, { "name": "tctex1 domain-containing protein 2", "type": "synonym" } ], "gene_names": [ { "name": "DYNLT2B", "type": "recommended" }, { "name": "DYNLT2B", "type": "synonym" }, { "name": "SRTD17", "type": "synonym" }, { "name": "TCTEX1D2", "type": "synonym" } ], "record_id": "Q8WW35-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q96RK4-1", "uniprot_ac": "Q96RK4", "uniprot_id": "BBS4_HUMAN", "refseq_ac": "NP_001239607", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "BBSome complex member BBS4", "type": "recommended" }, { "name": "BBSome complex member BBS4 isoform 2", "type": "synonym" }, { "name": "BBSome complex member BBS4", "type": "synonym" }, { "name": "Bardet-Biedl syndrome 4 protein", "type": "synonym" }, { "name": "bardet-Biedl syndrome 4 protein", "type": "synonym" } ], "gene_names": [ { "name": "BBS4", "type": "recommended" }, { "name": "BBS4", "type": "synonym" } ], "record_id": "Q96RK4-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q13563-1", "uniprot_ac": "Q13563", "uniprot_id": "PKD2_HUMAN", "refseq_ac": "NP_000288", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Polycystin-2", "type": "recommended" }, { "name": "Autosomal dominant polycystic kidney disease type II protein", "type": "synonym" }, { "name": "PC2", "type": "synonym" }, { "name": "Polycystic kidney disease 2 protein", "type": "synonym" }, { "name": "Polycystwin", "type": "synonym" }, { "name": "R48321", "type": "synonym" }, { "name": "Transient receptor potential cation channel subfamily P member 2", "type": "synonym" }, { "name": "autosomal dominant polycystic kidney disease type II protein", "type": "synonym" }, { "name": "polycystic kidney disease 2 (autosomal dominant)", "type": "synonym" }, { "name": "polycystin-2 isoform 1", "type": "synonym" }, { "name": "polycystin-2", "type": "synonym" }, { "name": "transient receptor potential cation channel subfamily P member 2", "type": "synonym" } ], "gene_names": [ { "name": "PKD2", "type": "recommended" }, { "name": "APKD2", "type": "synonym" }, { "name": "PC2", "type": "synonym" }, { "name": "PKD2", "type": "synonym" }, { "name": "PKD4", "type": "synonym" }, { "name": "Pc-2", "type": "synonym" }, { "name": "TRPP1", "type": "synonym" }, { "name": "TRPP2", "type": "synonym" } ], "record_id": "Q13563-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q9P2H3-1", "uniprot_ac": "Q9P2H3", "uniprot_id": "IFT80_HUMAN", "refseq_ac": "NP_001177170", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Intraflagellar transport protein 80 homolog", "type": "recommended" }, { "name": "WD repeat domain 56", "type": "synonym" }, { "name": "WD repeat-containing protein 56", "type": "synonym" }, { "name": "intraflagellar transport 80 homolog", "type": "synonym" }, { "name": "intraflagellar transport protein 80 homolog isoform b", "type": "synonym" } ], "gene_names": [ { "name": "IFT80", "type": "recommended" }, { "name": "ATD2", "type": "synonym" }, { "name": "CFAP167", "type": "synonym" }, { "name": "FAP167", "type": "synonym" }, { "name": "IFT80", "type": "synonym" }, { "name": "KIAA1374", "type": "synonym" }, { "name": "SRTD2", "type": "synonym" }, { "name": "WDR56", "type": "synonym" } ], "record_id": "Q9P2H3-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q5HYA8-1", "uniprot_ac": "Q5HYA8", "uniprot_id": "MKS3_HUMAN", "refseq_ac": "NP_001135773", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Meckelin", "type": "recommended" }, { "name": "Meckel syndrome type 3 protein", "type": "synonym" }, { "name": "Transmembrane protein 67", "type": "synonym" }, { "name": "meckel syndrome type 3 protein", "type": "synonym" }, { "name": "meckelin isoform 2", "type": "synonym" } ], "gene_names": [ { "name": "TMEM67", "type": "recommended" }, { "name": "JBTS6", "type": "synonym" }, { "name": "MECKELIN", "type": "synonym" }, { "name": "MKS3", "type": "synonym" }, { "name": "NPHP11", "type": "synonym" }, { "name": "TMEM67", "type": "synonym" }, { "name": "TNEM67", "type": "synonym" } ], "record_id": "Q5HYA8-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q9Y283-1", "uniprot_ac": "Q9Y283", "uniprot_id": "INVS_HUMAN", "refseq_ac": "NP_055240", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Inversin", "type": "recommended" }, { "name": "Inversion of embryo turning homolog", "type": "synonym" }, { "name": "Nephrocystin-2", "type": "synonym" }, { "name": "inversin isoform a", "type": "synonym" }, { "name": "inversion of embryo turning homolog", "type": "synonym" }, { "name": "inversion of embryonic turning", "type": "synonym" }, { "name": "nephrocystin-2", "type": "synonym" } ], "gene_names": [ { "name": "INVS", "type": "recommended" }, { "name": "INVS", "type": "synonym" }, { "name": "INV", "type": "synonym" }, { "name": "NPH2", "type": "synonym" }, { "name": "NPHP2", "type": "synonym" } ], "record_id": "Q9Y283-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q2M1P5-1", "uniprot_ac": "Q2M1P5", "uniprot_id": "KIF7_HUMAN", "refseq_ac": "NP_940927", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Kinesin-like protein KIF7", "type": "recommended" }, { "name": "EQYK340", "type": "synonym" }, { "name": "kinesin-like protein KIF7", "type": "synonym" } ], "gene_names": [ { "name": "KIF7", "type": "recommended" }, { "name": "ACLS", "type": "synonym" }, { "name": "AGBK", "type": "synonym" }, { "name": "HLS2", "type": "synonym" }, { "name": "JBTS12", "type": "synonym" }, { "name": "KIF7", "type": "synonym" }, { "name": "MMEDF", "type": "synonym" }, { "name": "PRO539", "type": "synonym" }, { "name": "UNQ340", "type": "synonym" } ], "record_id": "Q2M1P5-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q8NEZ3-1", "uniprot_ac": "Q8NEZ3", "uniprot_id": "WDR19_HUMAN", "refseq_ac": "NP_001304853", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "WD repeat-containing protein 19", "type": "recommended" }, { "name": "Intraflagellar transport 144 homolog", "type": "synonym" }, { "name": "WD repeat membrane protein PWDMP", "type": "synonym" }, { "name": "WD repeat-containing protein 19 isoform 2", "type": "synonym" }, { "name": "WD repeat-containing protein 19", "type": "synonym" }, { "name": "intraflagellar transport 144 homolog", "type": "synonym" } ], "gene_names": [ { "name": "WDR19", "type": "recommended" }, { "name": "ATD5", "type": "synonym" }, { "name": "CED4", "type": "synonym" }, { "name": "CFAP66", "type": "synonym" }, { "name": "DYF-2", "type": "synonym" }, { "name": "FAP66", "type": "synonym" }, { "name": "IFT144", "type": "synonym" }, { "name": "KIAA1638", "type": "synonym" }, { "name": "NPHP13", "type": "synonym" }, { "name": "ORF26", "type": "synonym" }, { "name": "Oseg6", "type": "synonym" }, { "name": "PWDMP", "type": "synonym" }, { "name": "SPGF72", "type": "synonym" }, { "name": "SRTD5", "type": "synonym" }, { "name": "WDR19", "type": "synonym" } ], "record_id": "Q8NEZ3-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q96NL6-1", "uniprot_ac": "Q96NL6", "uniprot_id": "SCLT1_HUMAN", "refseq_ac": "NP_001287827", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Sodium channel and clathrin linker 1", "type": "recommended" }, { "name": "Sodium channel-associated protein 1", "type": "synonym" }, { "name": "sodium channel and clathrin linker 1 isoform 3", "type": "synonym" }, { "name": "sodium channel-associated protein 1", "type": "synonym" } ], "gene_names": [ { "name": "SCLT1", "type": "recommended" }, { "name": "CAP-1A", "type": "synonym" }, { "name": "CAP1A", "type": "synonym" }, { "name": "SAP1", "type": "synonym" }, { "name": "SCLT1", "type": "synonym" } ], "record_id": "Q96NL6-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q9BZH6-1", "uniprot_ac": "Q9BZH6", "uniprot_id": "WDR11_HUMAN", "refseq_ac": "NP_060587", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "WD repeat-containing protein 11", "type": "recommended" }, { "name": "Bromodomain and WD repeat-containing protein 2", "type": "synonym" }, { "name": "WD repeat domain 15", "type": "synonym" }, { "name": "WD repeat-containing protein 11", "type": "synonym" }, { "name": "WD repeat-containing protein 15", "type": "synonym" }, { "name": "bromodomain and WD repeat-containing protein 2", "type": "synonym" }, { "name": "sensitization to ricin complex subunit 1", "type": "synonym" } ], "gene_names": [ { "name": "WDR11", "type": "recommended" }, { "name": "BRWD2", "type": "synonym" }, { "name": "DR11", "type": "synonym" }, { "name": "HH14", "type": "synonym" }, { "name": "KIAA1351", "type": "synonym" }, { "name": "SRI1", "type": "synonym" }, { "name": "WDR11", "type": "synonym" }, { "name": "WDR15", "type": "synonym" } ], "record_id": "Q9BZH6-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "Q9BT04-1", "uniprot_ac": "Q9BT04", "uniprot_id": "FUZZY_HUMAN", "refseq_ac": "NP_001165408", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Protein fuzzy homolog", "type": "recommended" }, { "name": "ciliogenesis and planar polarity effector 3", "type": "synonym" }, { "name": "ciliogenesis and planar polarity effector complex subunit 3", "type": "synonym" }, { "name": "protein fuzzy homolog isoform 2", "type": "synonym" }, { "name": "protein fuzzy homolog", "type": "synonym" } ], "gene_names": [ { "name": "FUZ", "type": "recommended" }, { "name": "CPLANE3", "type": "synonym" }, { "name": "FUZ", "type": "synonym" }, { "name": "FY", "type": "synonym" }, { "name": "NTD", "type": "synonym" } ], "record_id": "Q9BT04-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "uniprot_canonical_ac": "O43597-1", "uniprot_ac": "O43597", "uniprot_id": "SPY2_HUMAN", "refseq_ac": "NP_001305465", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Protein sprouty homolog 2", "type": "recommended" }, { "name": "Spry-2", "type": "synonym" }, { "name": "protein sprouty homolog 2", "type": "synonym" } ], "gene_names": [ { "name": "SPRY2", "type": "recommended" }, { "name": "IGAN3", "type": "synonym" }, { "name": "SPRY2", "type": "synonym" }, { "name": "hSPRY2", "type": "synonym" } ], "record_id": "O43597-1", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0060340" }