{ "disease_id": "DOID:0050777", "recommended_name": { "id": "DOID:0050777", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050777", "name": "Joubert syndrome", "description": "A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." }, "synonyms": [ { "id": "DOID:0050777", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050777", "name": "JBTS", "description": "" }, { "id": "MONDO:0008944", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008944", "name": "Joubert syndrome 1", "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene." }, { "id": "MONDO:0008944", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008944", "name": "CORS1", "description": "" }, { "id": "MONDO:0008944", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008944", "name": "CPD4", "description": "" }, { "id": "MONDO:0008944", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008944", "name": "INPP5E Joubert syndrome", "description": "" }, { "id": "MONDO:0008944", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008944", "name": "JBTS1", "description": "" }, { "id": "MONDO:0008944", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008944", "name": "Joubert syndrome 1", "description": "" }, { "id": "MONDO:0008944", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008944", "name": "Joubert syndrome caused by mutation in INPP5E", "description": "" }, { "id": "MONDO:0008944", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008944", "name": "Joubert syndrome type 1", "description": "" }, { "id": "MONDO:0008944", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008944", "name": "cerebellooculorenal syndrome 1", "description": "" }, { "id": "MIM:213300", "resource": "MIM", "url": "https://www.omim.org/entry/213300", "name": "Joubert syndrome 1", "description": "Joubert syndrome 1" } ], "children": [ { "id": "DOID:0060376", "label": "Joubert syndrome with orofaciodigital defect", "link_status": true, "children": [] }, { "id": "DOID:0080275", "label": "Joubert syndrome 30", "link_status": true, "children": [] }, { "id": "DOID:0080277", "label": "Joubert syndrome 31", "link_status": true, "children": [] }, { "id": "DOID:0080278", "label": "Joubert syndrome 32", "link_status": true, "children": [] }, { "id": "DOID:0080279", "label": "Joubert syndrome 33", "link_status": true, "children": [] }, { "id": "DOID:0110980", "label": "Joubert syndrome 1", "link_status": true, "children": [] }, { "id": "DOID:0110981", "label": "Joubert syndrome 10", "link_status": true, "children": [] }, { "id": "DOID:0110982", "label": "Joubert syndrome 13", "link_status": true, "children": [] }, { "id": "DOID:0110983", "label": "Joubert syndrome 14", "link_status": true, "children": [] }, { "id": "DOID:0110984", "label": "Joubert syndrome 15", "link_status": true, "children": [] }, { "id": "DOID:0110985", "label": "Joubert syndrome 16", "link_status": true, "children": [] }, { "id": "DOID:0110986", "label": "Joubert syndrome 17", "link_status": true, "children": [] }, { "id": "DOID:0110987", "label": "Joubert syndrome 18", "link_status": true, "children": [] }, { "id": "DOID:0110988", "label": "Joubert syndrome 2", "link_status": true, "children": [] }, { "id": "DOID:0110989", "label": "Joubert syndrome 20", "link_status": true, "children": [] }, { "id": "DOID:0110990", "label": "Joubert syndrome 21", "link_status": true, "children": [] }, { "id": "DOID:0110991", "label": "Joubert syndrome 22", "link_status": true, "children": [] }, { "id": "DOID:0110992", "label": "Joubert syndrome 23", "link_status": true, "children": [] }, { "id": "DOID:0110993", "label": "Joubert syndrome 24", "link_status": true, "children": [] }, { "id": "DOID:0110994", "label": "Joubert syndrome 25", "link_status": true, "children": [] }, { "id": "DOID:0110995", "label": "Joubert syndrome 26", "link_status": true, "children": [] }, { "id": "DOID:0110996", "label": "Joubert syndrome 27", "link_status": true, "children": [] }, { "id": "DOID:0110997", "label": "Joubert syndrome 28", "link_status": true, "children": [] }, { "id": "DOID:0110998", "label": "Joubert syndrome 3", "link_status": true, "children": [] }, { "id": "DOID:0110999", "label": "Joubert syndrome 4", "link_status": true, "children": [] }, { "id": "DOID:0111000", "label": "Joubert syndrome 5", "link_status": true, "children": [] }, { "id": "DOID:0111001", "label": "Joubert syndrome 6", "link_status": true, "children": [] }, { "id": "DOID:0111002", "label": "Joubert syndrome 7", "link_status": true, "children": [] }, { "id": "DOID:0111003", "label": "Joubert syndrome 8", "link_status": true, "children": [] }, { "id": "DOID:0111004", "label": "Joubert syndrome 9", "link_status": true, "children": [] } ], "id_list": [ "DOID:0110999", "DOID:0110981", "DOID:0110996", "DOID:0110991", "DOID:0110982", "DOID:0111003", "DOID:0110997", "DOID:0111002", "DOID:0110988", "DOID:0110992", "DOID:0110990", "DOID:0080277", "DOID:0110986", "DOID:0111001", "DOID:0110989", "DOID:0110985", "DOID:0110980", "DOID:0110994", "DOID:0110993", "DOID:0111000", "DOID:0080275", "DOID:0050777", "DOID:0110987", "DOID:0111004", "DOID:0080279", "DOID:0110983", "DOID:0110984", "DOID:0110995", "DOID:0060376", "DOID:0110998", "DOID:0080278" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0050777", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050777", "categories": [] }, { "id": "MONDO:0008944", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008944", "categories": [] }, { "id": "MIM:213300", "database": "MIM", "url": "https://www.omim.org/entry/213300", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "F1QX08-1", "uniprot_ac": "F1QX08", "uniprot_id": "F1QX08_DANRE", "refseq_ac": "NP_001306918", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Jouberin", "type": "recommended" }, { "name": "ZAhi-1", "type": "synonym" }, { "name": "jouberin", "type": "synonym" } ], "gene_names": [ { "name": "ahi1", "type": "recommended" }, { "name": "ahi1", "type": "synonym" } ], "record_id": "F1QX08-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "A0A8M1NEC2-1", "uniprot_ac": "A0A8M1NEC2", "uniprot_id": "A0A8M1NEC2_DANRE", "refseq_ac": "NP_001096089", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Phosphatidylinositol polyphosphate 5-phosphatase type IV", "type": "recommended" }, { "name": "3.1.3.36", "type": "synonym" }, { "name": "3.1.3.86", "type": "synonym" }, { "name": "72 kDa inositol polyphosphate 5-phosphatase", "type": "synonym" }, { "name": "Inositol polyphosphate-5-phosphatase E", "type": "synonym" }, { "name": "Phosphatidylinositol 4,5-bisphosphate 5-phosphatase", "type": "synonym" }, { "name": "Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase", "type": "synonym" }, { "name": "phosphatidylinositol polyphosphate 5-phosphatase type IV", "type": "synonym" } ], "gene_names": [ { "name": "inpp5e", "type": "recommended" }, { "name": "Innpp5e", "type": "synonym" }, { "name": "im:7152772", "type": "synonym" }, { "name": "inpp5e", "type": "synonym" }, { "name": "zgc:165612", "type": "synonym" } ], "record_id": "A0A8M1NEC2-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "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": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "Q1MTE5-1", "uniprot_ac": "Q1MTE5", "uniprot_id": "ARL3_DANRE", "refseq_ac": "NP_001038373", "glycoprotein": "yes", "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 3", "type": "recommended" }, { "name": "ADP-ribosylation factor-like 3b", "type": "synonym" }, { "name": "ADP-ribosylation factor-like protein 3", "type": "synonym" } ], "gene_names": [ { "name": "arl3", "type": "recommended" }, { "name": "arl3b", "type": "synonym" }, { "name": "arl3", "type": "synonym" }, { "name": "sfxn2", "type": "synonym" }, { "name": "si:ch211-208d15.4", "type": "synonym" }, { "name": "wu:fj22g05", "type": "synonym" } ], "record_id": "Q1MTE5-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "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": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "A0A2R8QI61-1", "uniprot_ac": "A0A2R8QI61", "uniprot_id": "A0A2R8QI61_DANRE", "refseq_ac": "NP_001315350", "glycoprotein": "yes", "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 3", "type": "recommended" }, { "name": "ADP-ribosylation factor-like 3a", "type": "synonym" }, { "name": "ADP-ribosylation factor-like protein 3a isoform 1", "type": "synonym" } ], "gene_names": [ { "name": "arl3a", "type": "recommended" }, { "name": "arl3a", "type": "synonym" }, { "name": "si:dkey-52k1.1", "type": "synonym" }, { "name": "zgc:110197", "type": "synonym" } ], "record_id": "A0A2R8QI61-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "A0AC58JIA8-1", "uniprot_ac": "A0AC58JIA8", "uniprot_id": "A0AC58JIA8_DANRE", "refseq_ac": "XP_073806222", "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 74 homolog isoform X1", "type": "synonym" }, { "name": "intraflagellar transport protein 74 homolog isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "ift74", "type": "recommended" }, { "name": "ift74", "type": "synonym" }, { "name": "zgc:92052", "type": "synonym" } ], "record_id": "A0AC58JIA8-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "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": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "A1L253-1", "uniprot_ac": "A1L253", "uniprot_id": "F149B_DANRE", "refseq_ac": "NP_001074134", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Protein FAM149B1", "type": "recommended" }, { "name": "protein FAM149B1", "type": "synonym" } ], "gene_names": [ { "name": "fam149b1", "type": "recommended" }, { "name": "fam149b1", "type": "synonym" }, { "name": "zgc:158651", "type": "synonym" } ], "record_id": "A1L253-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "E7EYQ9-1", "uniprot_ac": "E7EYQ9", "uniprot_id": "TM216_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": "Transmembrane protein 216", "type": "recommended" } ], "gene_names": [ { "name": "tmem216", "type": "recommended" }, { "name": "si:rp71-1d10.5", "type": "synonym" } ], "record_id": "E7EYQ9-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "Q7SZ56-1", "uniprot_ac": "Q7SZ56", "uniprot_id": "TM218_DANRE", "refseq_ac": "NP_956692", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Transmembrane protein 218", "type": "recommended" }, { "name": "transmembrane protein 218", "type": "synonym" } ], "gene_names": [ { "name": "tmem218", "type": "recommended" }, { "name": "tmem218", "type": "synonym" }, { "name": "zgc:63675", "type": "synonym" } ], "record_id": "Q7SZ56-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "F1Q930-1", "uniprot_ac": "F1Q930", "uniprot_id": "T237A_DANRE", "refseq_ac": "NP_001306065", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Transmembrane protein 237A", "type": "recommended" }, { "name": "Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein homolog A", "type": "synonym" }, { "name": "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4a", "type": "synonym" }, { "name": "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4", "type": "synonym" }, { "name": "amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein homolog A", "type": "synonym" }, { "name": "transmembrane protein 237A", "type": "synonym" } ], "gene_names": [ { "name": "tmem237a", "type": "recommended" }, { "name": "als2cr4a", "type": "synonym" }, { "name": "als2cr4", "type": "synonym" }, { "name": "si:dkey-33m14.6", "type": "synonym" }, { "name": "tmem237a", "type": "synonym" } ], "record_id": "F1Q930-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "Q66IE4-1", "uniprot_ac": "Q66IE4", "uniprot_id": "T237B_DANRE", "refseq_ac": "NP_001004636", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Transmembrane protein 237B", "type": "recommended" }, { "name": "Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein homolog B", "type": "synonym" }, { "name": "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4b", "type": "synonym" }, { "name": "amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein homolog B", "type": "synonym" }, { "name": "transmembrane protein 237B", "type": "synonym" } ], "gene_names": [ { "name": "tmem237b", "type": "recommended" }, { "name": "als2cr4b", "type": "synonym" }, { "name": "sb:cb992", "type": "synonym" }, { "name": "tmem237b", "type": "synonym" }, { "name": "zgc:101660", "type": "synonym" } ], "record_id": "Q66IE4-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "P46684-1", "uniprot_ac": "P46684", "uniprot_id": "ZIC1_MOUSE", "refseq_ac": "NP_033599", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Zinc finger protein ZIC 1", "type": "recommended" }, { "name": "Zic family member 1 (odd-paired homolog, Drosophila)", "type": "synonym" }, { "name": "Zinc finger protein of the cerebellum 1", "type": "synonym" }, { "name": "zinc finger protein ZIC 1", "type": "synonym" } ], "gene_names": [ { "name": "Zic1", "type": "recommended" }, { "name": "ZIC", "type": "synonym" }, { "name": "ZNF201", "type": "synonym" }, { "name": "Zic1", "type": "synonym" }, { "name": "Zic", "type": "synonym" } ], "record_id": "P46684-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "Q9WUL7-1", "uniprot_ac": "Q9WUL7", "uniprot_id": "ARL3_MOUSE", "refseq_ac": "NP_062692", "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 3", "type": "recommended" }, { "name": "ADP-ribosylation factor-like protein 3 isoform 1", "type": "synonym" }, { "name": "ADP-ribosylation factor-like protein 3", "type": "synonym" }, { "name": "ADP-ribosylation-like 3", "type": "synonym" } ], "gene_names": [ { "name": "Arl3", "type": "recommended" }, { "name": "Arl3", "type": "synonym" } ], "record_id": "Q9WUL7-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "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": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "Q8BKE9-1", "uniprot_ac": "Q8BKE9", "uniprot_id": "IFT74_MOUSE", "refseq_ac": "NP_001277497", "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 74 homolog", "type": "recommended" }, { "name": "CMG-1", "type": "synonym" }, { "name": "Capillary morphogenesis gene 1 protein", "type": "synonym" }, { "name": "Coiled-coil domain-containing protein 2", "type": "synonym" }, { "name": "capillary morphogenesis gene 1 protein", "type": "synonym" }, { "name": "capillary morphogenesis protein 1", "type": "synonym" }, { "name": "coiled-coil domain-containing protein 2", "type": "synonym" }, { "name": "intraflagellar transport protein 74 homolog isoform 2", "type": "synonym" }, { "name": "intraflagellar transport protein 74 homolog", "type": "synonym" } ], "gene_names": [ { "name": "Ift74", "type": "recommended" }, { "name": "1700029H06Rik", "type": "synonym" }, { "name": "Ccdc2", "type": "synonym" }, { "name": "Cmg1", "type": "synonym" }, { "name": "Ift74", "type": "synonym" }, { "name": "b2b796Clo", "type": "synonym" } ], "record_id": "Q8BKE9-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "Q9JII1-1", "uniprot_ac": "Q9JII1", "uniprot_id": "INP5E_MOUSE", "refseq_ac": "NP_001277366", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Phosphatidylinositol polyphosphate 5-phosphatase type IV", "type": "recommended" }, { "name": "3.1.3.36", "type": "synonym" }, { "name": "3.1.3.86", "type": "synonym" }, { "name": "72 kDa inositol polyphosphate 5-phosphatase", "type": "synonym" }, { "name": "Inositol polyphosphate-5-phosphatase E", "type": "synonym" }, { "name": "Phosphatidylinositol 4,5-bisphosphate 5-phosphatase", "type": "synonym" }, { "name": "Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase", "type": "synonym" }, { "name": "inositol polyphosphate-5-phosphatase, 72 kDa", "type": "synonym" }, { "name": "phosphatidylinositol 4,5-bisphosphate 5-phosphatase", "type": "synonym" }, { "name": "phosphatidylinositol polyphosphate 5-phosphatase type IV isoform b", "type": "synonym" }, { "name": "phosphatidylinositol polyphosphate 5-phosphatase type IV", "type": "synonym" }, { "name": "phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase", "type": "synonym" } ], "gene_names": [ { "name": "Inpp5e", "type": "recommended" }, { "name": "1200002L24Rik", "type": "synonym" }, { "name": "72kDa", "type": "synonym" }, { "name": "Inpp5e", "type": "synonym" }, { "name": "mKIAA0123", "type": "synonym" } ], "record_id": "Q9JII1-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "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": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "Q6NSV7-1", "uniprot_ac": "Q6NSV7", "uniprot_id": "F149B_MOUSE", "refseq_ac": "NP_001019683", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Primary cilium assembly protein FAM149B1", "type": "recommended" }, { "name": "primary cilium assembly protein FAM149B1 isoform 1", "type": "synonym" }, { "name": "primary cilium assembly protein FAM149B1", "type": "synonym" }, { "name": "protein FAM149B1", "type": "synonym" } ], "gene_names": [ { "name": "Fam149b1", "type": "recommended" }, { "name": "Fam149b", "type": "recommended" }, { "name": "Fam149b1", "type": "synonym" }, { "name": "Fam149b", "type": "synonym" }, { "name": "Kiaa0974", "type": "synonym" }, { "name": "mKIAA0974", "type": "synonym" } ], "record_id": "Q6NSV7-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "Q9CQC4-1", "uniprot_ac": "Q9CQC4", "uniprot_id": "TM216_MOUSE", "refseq_ac": "NP_001264789", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Transmembrane protein 216", "type": "recommended" }, { "name": "Thymus atrophy-related protein", "type": "synonym" }, { "name": "thymus atrophy-related protein", "type": "synonym" }, { "name": "transmembrane protein 216 isoform 1", "type": "synonym" } ], "gene_names": [ { "name": "Tmem216", "type": "recommended" }, { "name": "1110017C22Rik", "type": "synonym" }, { "name": "2810441K11Rik", "type": "synonym" }, { "name": "4921533J23Rik", "type": "synonym" }, { "name": "A930021F15Rik", "type": "synonym" }, { "name": "Tmem216", "type": "synonym" } ], "record_id": "Q9CQC4-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "Q9CQ44-1", "uniprot_ac": "Q9CQ44", "uniprot_id": "TM218_MOUSE", "refseq_ac": "NP_001297025", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Transmembrane protein 218", "type": "recommended" }, { "name": "transmembrane protein 218 isoform 1", "type": "synonym" } ], "gene_names": [ { "name": "Tmem218", "type": "recommended" }, { "name": "1810021J13Rik", "type": "synonym" }, { "name": "Tmem218", "type": "synonym" } ], "record_id": "Q9CQ44-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "Q3V0J1-1", "uniprot_ac": "Q3V0J1", "uniprot_id": "TM237_MOUSE", "refseq_ac": "NP_001028621", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Transmembrane protein 237", "type": "recommended" }, { "name": "Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein homolog", "type": "synonym" }, { "name": "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4", "type": "synonym" }, { "name": "amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein homolog", "type": "synonym" }, { "name": "transmembrane protein 237 isoform 1", "type": "synonym" } ], "gene_names": [ { "name": "Tmem237", "type": "recommended" }, { "name": "Als2cr4", "type": "synonym" }, { "name": "Gm972", "type": "synonym" }, { "name": "Tmem237", "type": "synonym" } ], "record_id": "Q3V0J1-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "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": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "Q8K3E5-1", "uniprot_ac": "Q8K3E5", "uniprot_id": "AHI1_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": "Jouberin", "type": "recommended" }, { "name": "AHI-1", "type": "synonym" }, { "name": "Abelson helper integration site 1 protein", "type": "synonym" } ], "gene_names": [ { "name": "Ahi1", "type": "recommended" } ], "record_id": "Q8K3E5-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "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": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "Q9NRR6-1", "uniprot_ac": "Q9NRR6", "uniprot_id": "INP5E_HUMAN", "refseq_ac": "NP_001305431", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Phosphatidylinositol polyphosphate 5-phosphatase type IV", "type": "recommended" }, { "name": "3.1.3.36", "type": "synonym" }, { "name": "3.1.3.86", "type": "synonym" }, { "name": "72 kDa inositol polyphosphate 5-phosphatase", "type": "synonym" }, { "name": "Inositol polyphosphate-5-phosphatase E", "type": "synonym" }, { "name": "Phosphatidylinositol 4,5-bisphosphate 5-phosphatase", "type": "synonym" }, { "name": "Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase", "type": "synonym" }, { "name": "phosphatidylinositol polyphosphate 5-phosphatase type IV isoform 2", "type": "synonym" }, { "name": "phosphatidylinositol polyphosphate 5-phosphatase type IV", "type": "synonym" }, { "name": "phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase", "type": "synonym" }, { "name": "phosphatidylinositol-4,5-bisphosphate 5-phosphatase", "type": "synonym" } ], "gene_names": [ { "name": "INPP5E", "type": "recommended" }, { "name": "CORS1", "type": "synonym" }, { "name": "CPD4", "type": "synonym" }, { "name": "INPP5E", "type": "synonym" }, { "name": "JBTS1", "type": "synonym" }, { "name": "MORMS", "type": "synonym" }, { "name": "PPI5PIV", "type": "synonym" }, { "name": "pharbin", "type": "synonym" } ], "record_id": "Q9NRR6-1", "evidence": [ { "id": "213300", "database": "MIM", "url": "https://www.omim.org/entry/213300" }, { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "P37996-1", "uniprot_ac": "P37996", "uniprot_id": "ARL3_RAT", "refseq_ac": "NP_073191", "glycoprotein": "yes", "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 3", "type": "recommended" }, { "name": "ADP ribosylation factor like GTPase 3", "type": "synonym" }, { "name": "ADP-ribosylation factor-like 3", "type": "synonym" }, { "name": "ADP-ribosylation factor-like protein 3", "type": "synonym" }, { "name": "ADP-ribosylation-like 3", "type": "synonym" }, { "name": "ARD3", "type": "synonym" } ], "gene_names": [ { "name": "Arl3", "type": "recommended" }, { "name": "Arl3", "type": "synonym" } ], "record_id": "P37996-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "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": "B9d2", "type": "recommended" }, { "name": "B9d2", "type": "synonym" }, { "name": "RGD1566122", "type": "synonym" } ], "record_id": "P0C5J3-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "Q9WVR1-1", "uniprot_ac": "Q9WVR1", "uniprot_id": "INP5E_RAT", "refseq_ac": "NP_446084", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Phosphatidylinositol polyphosphate 5-phosphatase type IV", "type": "recommended" }, { "name": "3.1.3.36", "type": "synonym" }, { "name": "3.1.3.86", "type": "synonym" }, { "name": "5-phosphatase that induces arborization", "type": "synonym" }, { "name": "72 kDa inositol polyphosphate 5-phosphatase", "type": "synonym" }, { "name": "Inositol polyphosphate-5-phosphatase E", "type": "synonym" }, { "name": "Pharbin", "type": "synonym" }, { "name": "Phosphatidylinositol 4,5-bisphosphate 5-phosphatase", "type": "synonym" }, { "name": "Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase", "type": "synonym" }, { "name": "pharbin", "type": "synonym" }, { "name": "phosphatidylinositol polyphosphate 5-phosphatase type IV", "type": "synonym" }, { "name": "phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase", "type": "synonym" }, { "name": "phosphatidylinositol-4,5-bisphosphate 5-phosphatase", "type": "synonym" } ], "gene_names": [ { "name": "Inpp5e", "type": "recommended" }, { "name": "Inpp5e", "type": "synonym" } ], "record_id": "Q9WVR1-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "Q5XIR2-1", "uniprot_ac": "Q5XIR2", "uniprot_id": "Q5XIR2_RAT", "refseq_ac": "NP_001007002", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Intraflagellar transport 74", "type": "synonym" }, { "name": "coiled-coil domain containing 2", "type": "synonym" }, { "name": "intraflagellar transport 74 homolog", "type": "synonym" }, { "name": "intraflagellar transport protein 74 homolog", "type": "synonym" } ], "gene_names": [ { "name": "Ift74", "type": "recommended" }, { "name": "Ccdc2", "type": "synonym" }, { "name": "Ift74", "type": "synonym" } ], "record_id": "Q5XIR2-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "A0A8I5ZZR0-1", "uniprot_ac": "A0A8I5ZZR0", "uniprot_id": "A0A8I5ZZR0_RAT", "refseq_ac": "NP_001414133", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "RIKEN cDNA 4933427D14 gene like", "type": "synonym" }, { "name": "protein moonraker", "type": "synonym" } ], "gene_names": [ { "name": "4933427D14Rikl", "type": "recommended" }, { "name": "4933427D14Rikl", "type": "synonym" }, { "name": "RGD1304728", "type": "synonym" } ], "record_id": "A0A8I5ZZR0-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "Q5PQL8-1", "uniprot_ac": "Q5PQL8", "uniprot_id": "F149B_RAT", "refseq_ac": "NP_001013900", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Primary cilium assembly protein FAM149B1", "type": "recommended" }, { "name": "primary cilium assembly protein FAM149B1 isoform 1", "type": "synonym" }, { "name": "primary cilium assembly protein FAM149B1", "type": "synonym" }, { "name": "protein FAM149B1", "type": "synonym" } ], "gene_names": [ { "name": "Fam149b1", "type": "recommended" }, { "name": "Fam149b1", "type": "synonym" }, { "name": "RGD1359592", "type": "synonym" } ], "record_id": "Q5PQL8-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "B6ID01-1", "uniprot_ac": "B6ID01", "uniprot_id": "TM216_RAT", "refseq_ac": "NP_001257968", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Transmembrane protein 216", "type": "recommended" }, { "name": "transmembrane protein 216", "type": "synonym" } ], "gene_names": [ { "name": "Tmem216", "type": "recommended" }, { "name": "RGD1304607", "type": "synonym" }, { "name": "Tmem216", "type": "synonym" } ], "record_id": "B6ID01-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "Q5U3Y9-1", "uniprot_ac": "Q5U3Y9", "uniprot_id": "TM218_RAT", "refseq_ac": "NP_001008326", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Transmembrane protein 218", "type": "recommended" }, { "name": "transmembrane protein 218", "type": "synonym" } ], "gene_names": [ { "name": "Tmem218", "type": "recommended" }, { "name": "RGD1311364", "type": "synonym" }, { "name": "Tmem218", "type": "synonym" } ], "record_id": "Q5U3Y9-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "A0ABK0L348-1", "uniprot_ac": "A0ABK0L348", "uniprot_id": "A0ABK0L348_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": "Transmembrane protein 237", "type": "synonym" } ], "gene_names": [ { "name": "Tmem237", "type": "recommended" } ], "record_id": "A0ABK0L348-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "D4ABJ6-1", "uniprot_ac": "D4ABJ6", "uniprot_id": "D4ABJ6_RAT", "refseq_ac": "NP_001414223", "glycoprotein": "yes", "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 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": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "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": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "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": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "Q9VD64-1", "uniprot_ac": "Q9VD64", "uniprot_id": "Q9VD64_DROME", "refseq_ac": "NP_650995", "glycoprotein": "yes", "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 3", "type": "recommended" }, { "name": "ADP-ribosylation factor-like 3", "type": "synonym" }, { "name": "Arf-like 3", "type": "synonym" }, { "name": "Arf-like-3", "type": "synonym" }, { "name": "Arf-like3", "type": "synonym" }, { "name": "CG6560-PA", "type": "synonym" }, { "name": "dead end", "type": "synonym" }, { "name": "dnd-PA", "type": "synonym" } ], "gene_names": [ { "name": "dnd", "type": "recommended" }, { "name": "ARL3", "type": "synonym" }, { "name": "Arl3", "type": "synonym" }, { "name": "CG6560", "type": "synonym" }, { "name": "Dmel\\CG6560", "type": "synonym" }, { "name": "Dmel_CG6560", "type": "synonym" }, { "name": "Dnd", "type": "synonym" }, { "name": "Q9VD64", "type": "synonym" }, { "name": "arl3", "type": "synonym" }, { "name": "dnd", "type": "synonym" } ], "record_id": "Q9VD64-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "Q9VTW2-1", "uniprot_ac": "Q9VTW2", "uniprot_id": "INP5E_DROME", "refseq_ac": "NP_001261753", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Inositol polyphosphate 5-phosphatase E", "type": "recommended" }, { "name": "3.1.3.36", "type": "synonym" }, { "name": "CG10426-PB", "type": "synonym" }, { "name": "INPP5E-PB", "type": "synonym" }, { "name": "Phosphatidylinositol 4,5-bisphosphate 5-phosphatase", "type": "synonym" }, { "name": "Phosphatidylinositol polyphosphate 5-phosphatase type IV", "type": "synonym" }, { "name": "inositol polyphosphate 5-phosphatase E, isoform B", "type": "synonym" }, { "name": "pharbin-like", "type": "synonym" } ], "gene_names": [ { "name": "INPP5E", "type": "recommended" }, { "name": "CG10426", "type": "synonym" }, { "name": "Dmel\\CG10426", "type": "synonym" }, { "name": "INPP5E", "type": "synonym" }, { "name": "INPPE5", "type": "synonym" }, { "name": "IPP", "type": "synonym" }, { "name": "Inpp5e", "type": "synonym" }, { "name": "dInpp5e", "type": "synonym" } ], "record_id": "Q9VTW2-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "Q8INQ3-1", "uniprot_ac": "Q8INQ3", "uniprot_id": "Q8INQ3_DROME", "refseq_ac": "NP_649819", "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 216", "type": "recommended" }, { "name": "CG11760-PB", "type": "synonym" }, { "name": "uncharacterized protein", "type": "synonym" } ], "gene_names": [ { "name": "Dmel\\CG11760", "type": "recommended" }, { "name": "BcDNA:LD16427", "type": "synonym" }, { "name": "CG11760", "type": "synonym" }, { "name": "Dmel\\CG11760", "type": "synonym" }, { "name": "Dmel_CG11760", "type": "synonym" } ], "record_id": "Q8INQ3-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "Q9VHN0-1", "uniprot_ac": "Q9VHN0", "uniprot_id": "Q9VHN0_DROME", "refseq_ac": "NP_001163553", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG8116-PB", "type": "synonym" }, { "name": "TMEM216-PB", "type": "synonym" }, { "name": "Transmembrane protein 216, isoform A", "type": "synonym" }, { "name": "Transmembrane protein 216, isoform B", "type": "synonym" }, { "name": "Transmembrane protein 216, isoform C", "type": "synonym" }, { "name": "transmembrane protein 216, isoform B", "type": "synonym" } ], "gene_names": [ { "name": "TMEM216", "type": "recommended" }, { "name": "CG8116", "type": "synonym" }, { "name": "Dmel\\CG8116", "type": "synonym" }, { "name": "Dmel_CG8116", "type": "synonym" }, { "name": "EP(3)3246", "type": "synonym" }, { "name": "GH04517", "type": "synonym" }, { "name": "TMEM216", "type": "synonym" } ], "record_id": "Q9VHN0-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "Q9VW76-1", "uniprot_ac": "Q9VW76", "uniprot_id": "Q9VW76_DROME", "refseq_ac": "NP_649174", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG14186-PA", "type": "synonym" }, { "name": "Uncharacterized protein", "type": "synonym" }, { "name": "uncharacterized protein", "type": "synonym" } ], "gene_names": [ { "name": "Dmel\\CG14186", "type": "recommended" }, { "name": "CG14186", "type": "synonym" }, { "name": "Dmel\\CG14186", "type": "synonym" }, { "name": "Dmel_CG14186", "type": "synonym" } ], "record_id": "Q9VW76-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "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": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "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": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "P39768-1", "uniprot_ac": "P39768", "uniprot_id": "OPA_DROME", "refseq_ac": "NP_524228", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Pair-rule protein odd-paired", "type": "recommended" }, { "name": "CG1133-PA", "type": "synonym" }, { "name": "GLI-Kr zinc finger pair-rule protein", "type": "synonym" }, { "name": "Odd paired", "type": "synonym" }, { "name": "Odd-paired", "type": "synonym" }, { "name": "odd paired, isoform A", "type": "synonym" }, { "name": "opa-PA", "type": "synonym" } ], "gene_names": [ { "name": "opa", "type": "recommended" }, { "name": "CG1133", "type": "synonym" }, { "name": "Dmel\\CG1133", "type": "synonym" }, { "name": "Dmel_CG1133", "type": "synonym" }, { "name": "Opa", "type": "synonym" }, { "name": "opa", "type": "synonym" } ], "record_id": "P39768-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "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": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "Q96Q45-1", "uniprot_ac": "Q96Q45", "uniprot_id": "TM237_HUMAN", "refseq_ac": "NP_001037850", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Transmembrane protein 237", "type": "recommended" }, { "name": "Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein", "type": "synonym" }, { "name": "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4", "type": "synonym" }, { "name": "amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein", "type": "synonym" }, { "name": "transmembrane protein 237 isoform a", "type": "synonym" } ], "gene_names": [ { "name": "TMEM237", "type": "recommended" }, { "name": "ALS2CR4", "type": "synonym" }, { "name": "JBTS14", "type": "synonym" }, { "name": "TMEM237", "type": "synonym" } ], "record_id": "Q96Q45-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "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": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "Q8N157-1", "uniprot_ac": "Q8N157", "uniprot_id": "AHI1_HUMAN", "refseq_ac": "NP_001128302", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Jouberin", "type": "recommended" }, { "name": "AHI-1", "type": "synonym" }, { "name": "Abelson helper integration site 1 protein homolog", "type": "synonym" }, { "name": "abelson helper integration site 1 protein homolog", "type": "synonym" }, { "name": "contatins SH3 and WD40 domains", "type": "synonym" }, { "name": "jouberin isoform a", "type": "synonym" } ], "gene_names": [ { "name": "AHI1", "type": "recommended" }, { "name": "AHI-1", "type": "synonym" }, { "name": "AHI1", "type": "synonym" }, { "name": "JBTS3", "type": "synonym" }, { "name": "ORF1", "type": "synonym" }, { "name": "dJ71N10.1", "type": "synonym" } ], "record_id": "Q8N157-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "Q9Y4F4-1", "uniprot_ac": "Q9Y4F4", "uniprot_id": "TGRM1_HUMAN", "refseq_ac": "NP_055906", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "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": "FAM179B", "type": "synonym" }, { "name": "JBTS37", "type": "synonym" }, { "name": "KIAA0423", "type": "synonym" }, { "name": "TOGARAM1", "type": "synonym" } ], "record_id": "Q9Y4F4-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "Q15915-1", "uniprot_ac": "Q15915", "uniprot_id": "ZIC1_HUMAN", "refseq_ac": "NP_003403", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Zinc finger protein ZIC 1", "type": "recommended" }, { "name": "Zic family member 1 (odd-paired homolog, Drosophila)", "type": "synonym" }, { "name": "Zinc finger protein 201", "type": "synonym" }, { "name": "Zinc finger protein of the cerebellum 1", "type": "synonym" }, { "name": "zinc finger protein 201", "type": "synonym" }, { "name": "zinc finger protein ZIC 1", "type": "synonym" } ], "gene_names": [ { "name": "ZIC1", "type": "recommended" }, { "name": "BAIDCS", "type": "synonym" }, { "name": "CRS6", "type": "synonym" }, { "name": "ZIC1", "type": "synonym" }, { "name": "ZIC", "type": "synonym" }, { "name": "ZNF201", "type": "synonym" } ], "record_id": "Q15915-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "Q9P0N5-1", "uniprot_ac": "Q9P0N5", "uniprot_id": "TM216_HUMAN", "refseq_ac": "NP_001167461", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Transmembrane protein 216", "type": "recommended" }, { "name": "transmembrane protein 216 isoform 2", "type": "synonym" } ], "gene_names": [ { "name": "TMEM216", "type": "recommended" }, { "name": "HSPC244", "type": "synonym" }, { "name": "RP98", "type": "synonym" }, { "name": "TMEM216", "type": "synonym" } ], "record_id": "Q9P0N5-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "A2RU14-1", "uniprot_ac": "A2RU14", "uniprot_id": "TM218_HUMAN", "refseq_ac": "NP_001074015", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Transmembrane protein 218", "type": "recommended" }, { "name": "transmembrane protein 218 isoform 2", "type": "synonym" } ], "gene_names": [ { "name": "TMEM218", "type": "recommended" }, { "name": "JBTS39", "type": "synonym" }, { "name": "TMEM218", "type": "synonym" } ], "record_id": "A2RU14-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "Q96BN6-1", "uniprot_ac": "Q96BN6", "uniprot_id": "F149B_HUMAN", "refseq_ac": "NP_775483", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Primary cilium assembly protein FAM149B1", "type": "recommended" }, { "name": "primary cilium assembly protein FAM149B1", "type": "synonym" }, { "name": "protein FAM149B1", "type": "synonym" } ], "gene_names": [ { "name": "FAM149B1", "type": "recommended" }, { "name": "FAM149B1", "type": "synonym" }, { "name": "JBTS36", "type": "synonym" }, { "name": "KIAA0974", "type": "synonym" } ], "record_id": "Q96BN6-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "Q96LB3-1", "uniprot_ac": "Q96LB3", "uniprot_id": "IFT74_HUMAN", "refseq_ac": "NP_001092692", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Intraflagellar transport protein 74 homolog", "type": "recommended" }, { "name": "CMG-1", "type": "synonym" }, { "name": "Capillary morphogenesis gene 1 protein", "type": "synonym" }, { "name": "Coiled-coil domain-containing protein 2", "type": "synonym" }, { "name": "capillary morphogenesis gene 1 protein", "type": "synonym" }, { "name": "capillary morphogenesis protein 1", "type": "synonym" }, { "name": "coiled-coil domain containing 2", "type": "synonym" }, { "name": "coiled-coil domain-containing protein 2", "type": "synonym" }, { "name": "intraflagellar transport 74 homolog", "type": "synonym" }, { "name": "intraflagellar transport protein 74 homolog isoform a", "type": "synonym" }, { "name": "intraflagellar transport protein 74 homolog", "type": "synonym" } ], "gene_names": [ { "name": "IFT74", "type": "recommended" }, { "name": "BBS22", "type": "synonym" }, { "name": "CCDC2", "type": "synonym" }, { "name": "CMG-1", "type": "synonym" }, { "name": "CMG1", "type": "synonym" }, { "name": "IFT74", "type": "synonym" }, { "name": "JBTS40", "type": "synonym" }, { "name": "SPGF58", "type": "synonym" } ], "record_id": "Q96LB3-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "Q2KHM9-1", "uniprot_ac": "Q2KHM9", "uniprot_id": "MOONR_HUMAN", "refseq_ac": "NP_055619", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Protein moonraker", "type": "recommended" }, { "name": "MNR", "type": "synonym" }, { "name": "OFD1 and FOPNL interacting protein", "type": "synonym" }, { "name": "OFD1 and FOR20 interacting protein", "type": "synonym" }, { "name": "OFD1- and FOPNL-interacting protein", "type": "synonym" }, { "name": "protein moonraker isoform 1", "type": "synonym" }, { "name": "protein moonraker", "type": "synonym" } ], "gene_names": [ { "name": "KIAA0753", "type": "recommended" }, { "name": "JBTS38", "type": "synonym" }, { "name": "KIAA0753", "type": "synonym" }, { "name": "MNR", "type": "synonym" }, { "name": "OFIP", "type": "synonym" }, { "name": "SRTD21", "type": "synonym" } ], "record_id": "Q2KHM9-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] }, { "uniprot_canonical_ac": "P36405-1", "uniprot_ac": "P36405", "uniprot_id": "ARL3_HUMAN", "refseq_ac": "NP_004302", "glycoprotein": "yes", "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 3", "type": "recommended" }, { "name": "ADP ribosylation factor like GTPase 3", "type": "synonym" }, { "name": "ADP-ribosylation factor-like 3", "type": "synonym" }, { "name": "ADP-ribosylation factor-like protein 3", "type": "synonym" }, { "name": "ARF-like 3", "type": "synonym" } ], "gene_names": [ { "name": "ARL3", "type": "recommended" }, { "name": "ARFL3", "type": "synonym" }, { "name": "ARL3", "type": "synonym" }, { "name": "JBTS35", "type": "synonym" }, { "name": "RP83", "type": "synonym" } ], "record_id": "P36405-1", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0050777" }