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        "title": "The DEAD-box helicase DDX3 supports the assembly of functional 80S ribosomes.",
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                "sequence_org": "D",
                "sequence_mut": "N",
                "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DES->NES).",
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                                "id": "DOID:4159",
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008905",
                                "name": "invasive candidiasis-deep dermatophytosis syndrome",
                                "description": ""
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008905",
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                            {
                                "id": "MONDO:0008905",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008905",
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                            {
                                "id": "MONDO:0008905",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0008905",
                                "name": "candidiasis familial chronic mucocutaneous, autosomal recessive",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008905",
                                "name": "candidiasis, familial, 2",
                                "description": ""
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                                "id": "MONDO:0011880",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011880",
                                "name": "candidiasis, familial, 3",
                                "description": ""
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                            {
                                "id": "MONDO:0011880",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011880",
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                                "id": "MONDO:0011880",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011880",
                                "name": "candidiasis, familial, 3",
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                            {
                                "id": "MONDO:0013140",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013140",
                                "name": "candidiasis, familial, 4",
                                "description": "Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the CLEC7A gene."
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013140",
                                "name": "CLEC7A familial chronic mucocutaneous candidiasis",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013140",
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013140",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0013140",
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                            {
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                                "resource": "MONDO",
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                            {
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                            {
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                                "description": "Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the TRAF3IP2 gene."
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                                "id": "MONDO:0014230",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0014230",
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                            {
                                "id": "MONDO:0014230",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014230",
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                            {
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                                "description": "Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17RC gene."
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                                "url": "https://monarchinitiative.org/disease/MONDO:0014642",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0014642",
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                                "id": "MONDO:0014642",
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                                "resource": "MONDO",
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        "title": "Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2.",
        "journal": "Nature genetics",
        "date": "2010",
        "authors": "Ellinghaus E, Ellinghaus D, Stuart PE, Nair RP, Debrus S, Raelson JV, Belouchi M, Fournier H, Reinhard C, Ding J, Li Y, Tejasvi T, Gudjonsson J, Stoll SW, Voorhees JJ, Lambert S, Weidinger S, Eberlein B, Kunz M, Rahman P, Gladman DD, Gieger C, Wichmann HE, Karlsen TH, Mayr G, Albrecht M, Kabelitz D, Mrowietz U, Abecasis GR, Elder JT, Schreiber S, Weichenthal M, Franke A",
        "reference": {
            "type": "PubMed",
            "id": "20953188",
            "url": "https://pubmed.ncbi.nlm.nih.gov/20953188"
        },
        "referenced_glycans": [],
        "referenced_proteins": [
            {
                "uniprot_canonical_ac": "O43734-1",
                "protein_name": "E3 ubiquitin ligase TRAF3IP2",
                "gene_name": "TRAF3IP2",
                "tax_name": "Human"
            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
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                        "url": "https://www.uniprot.org/uniprotkb/O43734"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "snv": [
            {
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                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33980500"
                    },
                    {
                        "id": "rs33980500",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs33980500"
                    },
                    {
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                        "database": "ExAC",
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                    },
                    {
                        "id": "rs33980500",
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                    },
                    {
                        "id": "rs33980500",
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                    },
                    {
                        "id": "20953186",
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                    {
                        "id": "20953188",
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                    },
                    {
                        "id": "22581863",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/22581863"
                    },
                    {
                        "id": "24120361",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/24120361"
                    },
                    {
                        "id": "rs33980500",
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                    }
                ],
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                    "n-glyco-sequon-gain"
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                "start_pos": 19,
                "end_pos": 19,
                "subjects_tested": "2053",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "D",
                "sequence_mut": "N",
                "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DES->NES).",
                "chr_id": "6",
                "chr_pos": "111592059",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "D19",
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                                "id": "MONDO:0008905",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0008905",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0008905",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0011880",
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                                "resource": "MONDO",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0011880",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0013140",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0013140",
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                                "resource": "MONDO",
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                                "description": "Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the TRAF3IP2 gene."
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                                "id": "MONDO:0014230",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0014230",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0014642",
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                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0014642",
                                "name": "IL17RC chronic mucocutaneous candidiasis (disease)",
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                                "id": "MONDO:0014642",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0014642",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0014642",
                                "name": "candidiasis, familial, type 9",
                                "description": ""
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                                "id": "MONDO:0014642",
                                "resource": "MONDO",
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                                "resource": "MONDO",
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        "title": "The inducible kinase IKKi is required for IL-17-dependent signaling associated with neutrophilia and pulmonary inflammation.",
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        "authors": "Bulek K, Liu C, Swaidani S, Wang L, Page RC, Gulen MF, Herjan T, Abbadi A, Qian W, Sun D, Lauer M, Hascall V, Misra S, Chance MR, Aronica M, Hamilton T, Li X",
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        "title": "Serum claudin-5, claudin-11, occludin, vinculin, paxillin, and beta-catenin levels in preschool children with autism spectrum disorder.",
        "journal": "Nordic journal of psychiatry",
        "date": "2023-01-20",
        "authors": "Bilgi\u00e7 Ayhan, Ferahkaya Hur\u015fit, Karag\u00f6z H\u00fclya, K\u0131l\u0131n\u00e7 \u0130brahim, Energin Vesile Meltem",
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