{ "disease_id": "DOID:0050778", "recommended_name": { "id": "DOID:0050778", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050778", "name": "Meckel syndrome", "description": "A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia." }, "synonyms": [ { "id": "DOID:0050778", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050778", "name": "Meckel-Gruber syndrome", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "Meckel syndrome, type 1", "description": "Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene." }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "MKS1", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "MKS1 Meckel syndrome", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "Meckel syndrome caused by mutation in MKS1", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "Meckel syndrome, type 1", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "Meckel-Gruber syndrome, type 1", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "Dysencephalia Splanchnocystica", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "Dysencephalia splachnocystica", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "Gruber syndrome", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "MKS", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "Meckel Gruber syndrome", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "Meckel syndrome", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "Meckel syndrome type1", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "Meckel-Gruber syndrome", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": 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rerio [7955]" } ], "protein_names": [ { "name": "Meckelin isoform X1", "type": "synonym" }, { "name": "meckelin isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "tmem67", "type": "recommended" }, { "name": "tmem67", "type": "synonym" } ], "record_id": "E9QB24-1", "evidence": [ { "id": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ] }, { "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": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ] }, { "uniprot_canonical_ac": "Q502I3-1", "uniprot_ac": "Q502I3", "uniprot_id": "CEP55_DANRE", "refseq_ac": "NP_001018598", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Centrosomal protein of 55 kDa", "type": "recommended" }, { "name": "Centrosomal protein 55-like", "type": "synonym" }, { "name": "centrosomal protein of 55 kDa", "type": "synonym" }, { "name": "cep55", "type": "synonym" } ], "gene_names": [ { "name": "cep55l", "type": "recommended" }, { "name": "cep55", "type": "recommended" }, { "name": "cep55l", "type": "synonym" }, { "name": "zgc:112184", "type": "synonym" } ], "record_id": "Q502I3-1", "evidence": [ { "id": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ] }, { "uniprot_canonical_ac": "Q5RHR6-1", "uniprot_ac": "Q5RHR6", "uniprot_id": "BROMI_DANRE", "refseq_ac": "NP_001093493", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Protein broad-minded", "type": "recommended" }, { "name": "TBC1 domain family member 32", "type": "synonym" }, { "name": "bromi", "type": "synonym" }, { "name": "protein broad-minded", "type": "synonym" } ], "gene_names": [ { "name": "tbc1d32", "type": "recommended" }, { "name": "bromi", "type": "synonym" }, { "name": "si:dkey-233p4.1", "type": "synonym" }, { "name": "si:dkey233p4.1", "type": "synonym" }, { "name": "tbc1d32", "type": "synonym" } ], "record_id": "Q5RHR6-1", "evidence": [ { "id": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ] }, { "uniprot_canonical_ac": "A0AB32TJB3-1", "uniprot_ac": "A0AB32TJB3", 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} ], "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": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ] }, { "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": [ { 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"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": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ] }, { "uniprot_canonical_ac": "L0N7N1-1", "uniprot_ac": "L0N7N1", "uniprot_id": "KIF14_MOUSE", "refseq_ac": "NP_001274108", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Kinesin-like protein KIF14", "type": "recommended" }, { "name": "N-3 kinesin", "type": "synonym" }, { "name": "kinesin-like protein KIF14", "type": "synonym" } ], "gene_names": [ { "name": "Kif14", "type": "recommended" }, { "name": "D1Ertd367e", "type": "synonym" }, { "name": "E130203M01", 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"uniprot_canonical_ac": "Q6P6J9-1", "uniprot_ac": "Q6P6J9", "uniprot_id": "TXD15_MOUSE", "refseq_ac": "NP_780359", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Thioredoxin domain-containing protein 15", "type": "recommended" }, { "name": "disulfide isomerase", "type": "synonym" }, { "name": "thioredoxin domain-containing protein 15 precursor", "type": "synonym" }, { "name": "thioredoxin domain-containing protein 15", "type": "synonym" } ], "gene_names": [ { "name": "Txndc15", "type": "recommended" }, { "name": "2310047H23Rik", "type": "synonym" }, { "name": "C5orf14", "type": "synonym" }, { "name": "Txndc15", "type": "synonym" }, { "name": "UNQ335", "type": "synonym" } ], "record_id": "Q6P6J9-1", "evidence": [ { "id": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ] }, { "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": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ] }, { "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": "249000", "database": "MIM", "url": "https://www.omim.org/entry/249000" }, { "id": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ] }, { "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]" } ], "protein_names": [ { "name": "B9 domain-containing protein 1", "type": "recommended" }, { "name": "B9 domain-containing protein 1", "type": "synonym" }, { "name": "B9 protein domain 1", "type": "synonym" }, { "name": "Endothelial precursor cells protein B9", "type": "synonym" }, { "name": "endothelial precursor cells protein B9", "type": "synonym" }, { "name": "endothelial precursor protein B9", "type": "synonym" } ], "gene_names": [ { "name": "B9d1", "type": "recommended" }, { "name": "B9d1", "type": "synonym" }, { "name": "Eppb9", "type": "synonym" } ], "record_id": "P0C5J2-1", "evidence": [ { "id": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ] }, { "uniprot_canonical_ac": "D3ZE01-1", "uniprot_ac": "D3ZE01", "uniprot_id": "D3ZE01_RAT", "refseq_ac": "NP_001414162", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Kinesin-like protein KIF14", "type": "recommended" }, { "name": "kinesin-like protein KIF14", "type": "synonym" } ], "gene_names": [ { "name": "Kif14", "type": "recommended" }, { "name": "Kif14", "type": "synonym" } ], "record_id": "D3ZE01-1", "evidence": [ { "id": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ] }, { "uniprot_canonical_ac": "Q5FVM1-1", "uniprot_ac": "Q5FVM1", "uniprot_id": "TM231_RAT", "refseq_ac": "NP_001257960", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Transmembrane protein 231", "type": "recommended" }, { "name": "transmembrane protein 231", "type": "synonym" } ], "gene_names": [ { "name": "Tmem231", "type": "recommended" }, { "name": "RGD1306153", "type": "synonym" }, { "name": "Tmem231", "type": "synonym" } ], "record_id": "Q5FVM1-1", "evidence": [ { "id": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ] }, { "uniprot_canonical_ac": "Q5BJT4-1", "uniprot_ac": "Q5BJT4", "uniprot_id": "TXD15_RAT", "refseq_ac": "NP_001020169", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Thioredoxin domain-containing protein 15", "type": "recommended" }, { "name": "thioredoxin domain-containing protein 15 isoform 2 precursor", "type": "synonym" }, { "name": "thioredoxin domain-containing protein 15", "type": "synonym" } ], "gene_names": [ { "name": "Pcbd2", "type": "recommended" }, { "name": "Txndc15", "type": "recommended" }, { "name": "RGD1304696", "type": "synonym" }, { "name": "Txndc15", "type": "synonym" } ], "record_id": "Q5BJT4-1", "evidence": [ { "id": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ] }, { "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": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ] }, { "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": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ] }, { "uniprot_canonical_ac": "Q499Q5-1", "uniprot_ac": "Q499Q5", "uniprot_id": "MKS1_RAT", "refseq_ac": "NP_001030089", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "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": "Mks1", "type": "synonym" } ], "record_id": "Q499Q5-1", "evidence": [ { "id": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ] }, { "uniprot_canonical_ac": "D4A050-1", "uniprot_ac": "D4A050", "uniprot_id": "D4A050_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": "Protein broad-minded", "type": "recommended" }, { "name": "TBC1 domain family member 32", "type": "synonym" } ], "gene_names": [ { "name": "Tbc1d32", "type": "recommended" }, { "name": "LOC100359595", "type": "synonym" } ], "record_id": "D4A050-1", "evidence": [ { "id": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ] }, { "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": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ] }, { "uniprot_canonical_ac": "Q4V7C8-1", "uniprot_ac": "Q4V7C8", "uniprot_id": "CEP55_RAT", "refseq_ac": "NP_001020817", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Centrosomal protein of 55 kDa", "type": "recommended" }, { "name": "Cep55", "type": "synonym" }, { "name": "centrosomal protein 55kDa", "type": "synonym" }, { "name": "centrosomal protein of 55 kDa", "type": "synonym" } ], "gene_names": [ { "name": "Cep55", "type": "recommended" }, { "name": "Cep55", "type": "synonym" }, { "name": "RGD1305340", "type": "synonym" } ], "record_id": "Q4V7C8-1", "evidence": [ { "id": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ] }, { "uniprot_canonical_ac": "A0ABK0L5P7-1", "uniprot_ac": "A0ABK0L5P7", "uniprot_id": "A0ABK0L5P7_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": "Protein fantom", "type": "recommended" }, { "name": "Nephrocystin-8", "type": "synonym" }, { "name": "RPGR-interacting protein 1-like protein", "type": "synonym" } ], "gene_names": [ { "name": "Rpgrip1l", "type": "recommended" } ], "record_id": "A0ABK0L5P7-1", "evidence": [ { "id": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ] }, { "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": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ] }, { "uniprot_canonical_ac": "Q9VIP4-1", "uniprot_ac": "Q9VIP4", "uniprot_id": "Q9VIP4_DROME", "refseq_ac": "NP_476817", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "5.6.1.3", "type": "synonym" }, { "name": "CG10718-PA", "type": "synonym" }, { "name": "Kinesin-like protein at 38B", "type": "synonym" }, { "name": "Kinesin3C", "type": "synonym" }, { "name": "Nebbish", "type": "synonym" }, { "name": "mothra", "type": "synonym" }, { "name": "neb-PA", "type": "synonym" }, { "name": "nebbish", "type": "synonym" }, { "name": "tiovivo", "type": "synonym" } ], "gene_names": [ { "name": "neb", "type": "recommended" }, { "name": "38B.10", "type": "synonym" }, { "name": "38B.12", "type": "synonym" }, { "name": "CG10718", "type": "synonym" }, { "name": "Dm0332", "type": "synonym" }, { "name": "DmKlp38B", "type": "synonym" }, { "name": "DmNeb", "type": "synonym" }, { "name": "Dmel\\CG10718", "type": "synonym" }, { "name": "Dmel_CG10718", "type": "synonym" }, { "name": "KIF 14", "type": "synonym" }, { "name": "KIF14", "type": "synonym" }, { "name": "KLP 38B", "type": "synonym" }, { "name": "KLP-38B", "type": "synonym" }, { "name": "KLP38B", "type": "synonym" }, { "name": "Klp38B", "type": "synonym" }, { "name": "Klp38", "type": "synonym" }, { "name": "Mot", "type": "synonym" }, { "name": "Neb", "type": "synonym" }, { "name": "klp38B", "type": "synonym" }, { "name": "l(2)03552", "type": "synonym" }, { "name": "l(2)k00802", "type": "synonym" }, { "name": "l(2)k07614", "type": "synonym" }, { "name": "nebb", "type": "synonym" }, { "name": "neb", "type": "synonym" }, { "name": "sl(2)ry3", "type": "synonym" }, { "name": "sl(2)ry", "type": "synonym" }, { "name": "tio", "type": "synonym" } ], "record_id": "Q9VIP4-1", "evidence": [ { "id": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ] }, { "uniprot_canonical_ac": "M9PB43-1", "uniprot_ac": "M9PB43", "uniprot_id": "M9PB43_DROME", "refseq_ac": "NP_001260097", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Transmembrane protein 231", "type": "recommended" }, { "name": "CG14020-PB", "type": "synonym" }, { "name": "uncharacterized protein, isoform B", "type": "synonym" } ], "gene_names": [ { "name": "Dmel\\CG14020", "type": "recommended" }, { "name": "CG14020", "type": "synonym" }, { "name": "Dmel\\CG14020", "type": "synonym" }, { "name": "Dmel_CG14020", "type": "synonym" } ], "record_id": "M9PB43-1", "evidence": [ { "id": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ] }, { "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": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ] }, { "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": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ] }, { "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": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ] }, { "uniprot_canonical_ac": "Q9H6L2-1", "uniprot_ac": "Q9H6L2", "uniprot_id": "TM231_HUMAN", "refseq_ac": "NP_001070884", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Transmembrane protein 231", "type": "recommended" }, { "name": "transmembrane protein 231 isoform 1", "type": "synonym" } ], "gene_names": [ { "name": "TMEM231", "type": "recommended" }, { "name": "ALYE870", "type": "synonym" }, { "name": "JBTS20", "type": "synonym" }, { "name": "MKS11", "type": "synonym" }, { "name": "PRO1886", "type": "synonym" }, { "name": "TMEM231", "type": "synonym" } ], "record_id": "Q9H6L2-1", "evidence": [ { "id": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ] }, { "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": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ] }, { "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": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ] }, { "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": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ] }, { "uniprot_canonical_ac": "Q53EZ4-1", "uniprot_ac": "Q53EZ4", "uniprot_id": "CEP55_HUMAN", "refseq_ac": "NP_001120654", "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 55 kDa", "type": "recommended" }, { "name": "Cep55", "type": "synonym" }, { "name": "Up-regulated in colon cancer 6", "type": "synonym" }, { "name": "cancer/testis antigen 111", "type": "synonym" }, { "name": "centrosomal protein 55kDa", "type": "synonym" }, { "name": "centrosomal protein of 55 kDa", "type": "synonym" }, { "name": "up-regulated in colon cancer 6", "type": "synonym" } ], "gene_names": [ { "name": "CEP55", "type": "recommended" }, { "name": "C10orf3", "type": "synonym" }, { "name": "CEP55", "type": "synonym" }, { "name": "CT111", "type": "synonym" }, { "name": "MARCH", "type": "synonym" }, { "name": "URCC6", "type": "synonym" } ], "record_id": "Q53EZ4-1", "evidence": [ { "id": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ] }, { "uniprot_canonical_ac": "Q96NH3-1", "uniprot_ac": "Q96NH3", "uniprot_id": "BROMI_HUMAN", "refseq_ac": "NP_689943", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Protein broad-minded", "type": "recommended" }, { "name": "TBC1 domain family member 32", "type": "synonym" }, { "name": "broad-minded homolog", "type": "synonym" }, { "name": "protein broad-minded isoform 1", "type": "synonym" }, { "name": "protein broad-minded", "type": "synonym" } ], "gene_names": [ { "name": "TBC1D32", "type": "recommended" }, { "name": "ALHSA", "type": "synonym" }, { "name": "BROMI", "type": "synonym" }, { "name": "C6orf170", "type": "synonym" }, { "name": "C6orf171", "type": "synonym" }, { "name": "OFD9", "type": "synonym" }, { "name": "RP100", "type": "synonym" }, { "name": "TBC1D32", "type": "synonym" } ], "record_id": "Q96NH3-1", "evidence": [ { "id": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ] }, { "uniprot_canonical_ac": "Q68CZ1-1", "uniprot_ac": "Q68CZ1", "uniprot_id": "FTM_HUMAN", "refseq_ac": "NP_001121369", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "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 homolog", "type": "synonym" }, { "name": "nephrocystin-8", "type": "synonym" }, { "name": "protein fantom isoform b", "type": "synonym" }, { "name": "protein fantom", "type": "synonym" }, { "name": "protein phosphatase 1, regulatory subunit 134", "type": "synonym" } ], "gene_names": [ { "name": "RPGRIP1L", "type": "recommended" }, { "name": "COACH3", "type": "synonym" }, { "name": "CORS3", "type": "synonym" }, { "name": "FTM", "type": "synonym" }, { "name": "JBTS7", "type": "synonym" }, { "name": "KIAA1005", "type": "synonym" }, { "name": "MKS5", "type": "synonym" }, { "name": "NPHP8", "type": "synonym" }, { "name": "PPP1R134", "type": "synonym" }, { "name": "RPGRIP1L", "type": "synonym" } ], "record_id": "Q68CZ1-1", "evidence": [ { "id": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ] }, { "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": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ] }, { "uniprot_canonical_ac": "Q96J42-1", "uniprot_ac": "Q96J42", "uniprot_id": "TXD15_HUMAN", "refseq_ac": "NP_078991", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Thioredoxin domain-containing protein 15", "type": "recommended" }, { "name": "2310047H23Rik", "type": "synonym" }, { "name": "disulfide isomerase", "type": "synonym" }, { "name": "thioredoxin domain-containing protein 15 isoform 1 precursor", "type": "synonym" }, { "name": "thioredoxin domain-containing protein 15", "type": "synonym" } ], "gene_names": [ { "name": "TXNDC15", "type": "recommended" }, { "name": "BUG", "type": "synonym" }, { "name": "C5orf14", "type": "synonym" }, { "name": "MKS14", "type": "synonym" }, { "name": "PRO534", "type": "synonym" }, { "name": "TMX5", "type": "synonym" }, { "name": "TXNDC15", "type": "synonym" }, { "name": "UNQ335", "type": "synonym" } ], "record_id": "Q96J42-1", "evidence": [ { "id": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ] }, { "uniprot_canonical_ac": "Q15058-1", "uniprot_ac": "Q15058", "uniprot_id": "KIF14_HUMAN", "refseq_ac": "NP_001292721", "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 KIF14", "type": "recommended" }, { "name": "epididymis secretory sperm binding protein", "type": "synonym" }, { "name": "kinesin-like protein KIF14 isoform 2", "type": "synonym" }, { "name": "kinesin-like protein KIF14", "type": "synonym" } ], "gene_names": [ { "name": "KIF14", "type": "recommended" }, { "name": "KIAA0042", "type": "synonym" }, { "name": "KIF14", "type": "synonym" }, { "name": "MCPH20", "type": "synonym" }, { "name": "MKS12", "type": "synonym" } ], "record_id": "Q15058-1", "evidence": [ { "id": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0050778" }