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    {
        "title": "Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.",
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        "date": "2008",
        "authors": "Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, Alfadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, Badano JL, Katsanis N",
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    {
        "title": "Genetic and physical interaction between the NPHP5 and NPHP6 gene products.",
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        "authors": "Sch\u00e4fer Tobias, P\u00fctz Michael, Lienkamp Soeren, Ganner Athina, Bergbreiter Astrid, Ramachandran Haribaskar, Gieloff Verena, Gerner Martin, Mattonet Christian, Czarnecki Peter G, Sayer John A, Otto Edgar A, Hildebrandt Friedhelm, Kramer-Zucker Albrecht, Walz Gerd",
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    {
        "title": "CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.",
        "journal": "Am. J. Hum. Genet.",
        "date": "2008",
        "authors": "Gorden NT, Arts HH, Parisi MA, Coene KL, Letteboer SJ, van Beersum SE, Mans DA, Hikida A, Eckert M, Knutzen D, Alswaid AF, Ozyurek H, Dibooglu S, Otto EA, Liu Y, Davis EE, Hutter CM, Bammler TK, Farin FM, Dorschner M, Topcu M, Zackai EH, Rosenthal P, Owens KN, Katsanis N, Vincent JB, Hildebrandt F, Rubel EW, Raible DW, Knoers NV, Chance PF, Roepman R, Moens CB, Glass IA, Doherty D",
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            },
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                "gene_name": "CC2D2A",
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            },
            {
                "uniprot_canonical_ac": "A7E2V1-1",
                "protein_name": "Centrosomal protein of 76 kDa",
                "gene_name": "cep76",
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        ],
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                ],
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                "glygen_name": "Zebrafish",
                "reference_species": "Danio rerio [7955]"
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        ],
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            {
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                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2K1"
                    },
                    {
                        "id": "rs118204051",
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                    }
                ],
                "glycoeffect": [
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                "start_pos": 1122,
                "end_pos": 1122,
                "subjects_tested": "2053",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "P",
                "sequence_mut": "S",
                "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NPS->NSS).",
                "chr_id": "4",
                "chr_pos": "15567752",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "P1122",
                "disease": [
                    {
                        "disease_id": "DOID:4159",
                        "recommended_name": {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:4159",
                            "name": "skin cancer",
                            "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "CA - skin cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "malignant neoplasm of skin",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "melanoma and Non-melanoma skin cancer",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
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                            "DOID:3451"
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                        "evidence": [
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                                "id": "4159",
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                                "url": "https://www.alliancegenome.org/disease/DOID:4159"
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                        ]
                    },
                    {
                        "disease_id": "DOID:0111589",
                        "recommended_name": {
                            "id": "DOID:0111589",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111589",
                            "name": "COACH syndrome",
                            "description": "A syndrome characterized by autosomal recessive inheritance of cerebellar vermis hypo/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in one of 3 genes (TMEM67, CC2D2A, RPGRIP1L)."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0111589",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111589",
                                "name": "cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111589",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111589",
                                "name": "Gentile syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111589",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111589",
                                "name": "JS-H",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111589",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111589",
                                "name": "Joubert syndrome with congenital hepatic fibrosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111589",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111589",
                                "name": "Joubert syndrome with hepatic defect",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0800103",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0800103",
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        "title": "Cloning and sequence analysis of a zebrafish cDNA encoding DNA (cytosine-5)-methyltransferase-1.",
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        "authors": "Mhanni A A, Yoder J A, Dubesky C, McGowan R A",
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