[
    {
        "title": "LILRB4 signalling in leukaemia cells mediates T cell suppression and tumour infiltration.",
        "journal": "Nature",
        "date": "2018",
        "authors": "Deng M, Gui X, Kim J, Xie L, Chen W, Li Z, He L, Chen Y, Chen H, Luo W, Lu Z, Xie J, Churchill H, Xu Y, Zhou Z, Wu G, Yu C, John S, Hirayasu K, Nguyen N, Liu X, Huang F, Li L, Deng H, Tang H, Sadek AH, Zhang L, Huang T, Zou Y, Chen B, Zhu H, Arase H, Xia N, Jiang Y, Collins R, You MJ, Homsi J, Unni N, Lewis C, Chen GQ, Fu YX, Liao XC, An Z, Zheng J, Zhang N, Zhang CC",
        "reference": {
            "type": "PubMed",
            "id": "30333625",
            "url": "https://pubmed.ncbi.nlm.nih.gov/30333625"
        },
        "referenced_glycans": [],
        "referenced_proteins": [
            {
                "uniprot_canonical_ac": "P02649-1",
                "protein_name": "Apolipoprotein E",
                "gene_name": "APOE",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q8NHJ6-1",
                "protein_name": "Leukocyte immunoglobulin-like receptor subfamily B member 4",
                "gene_name": "LILRB4",
                "tax_name": "Human"
            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "P02649",
                        "url": "https://www.uniprot.org/uniprotkb/P02649"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "mutagenesis": [
            {
                "start_pos": 103,
                "end_pos": 103,
                "sequence_org": "P",
                "sequence_mut": "A",
                "comment": "No significant change in APOE-mediated activation of LILRB4.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q8NHJ6",
                        "url": "https://www.uniprot.org/uniprotkb/Q8NHJ6"
                    },
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                        "id": "30333625",
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                    }
                ],
                "uniprot_canonical_ac": "Q8NHJ6-1"
            },
            {
                "start_pos": 106,
                "end_pos": 106,
                "sequence_org": "W",
                "sequence_mut": "A",
                "comment": "Significant reduction in APOE-mediated activation of LILRB4.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q8NHJ6",
                        "url": "https://www.uniprot.org/uniprotkb/Q8NHJ6"
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                        "id": "30333625",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/30333625"
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                ],
                "uniprot_canonical_ac": "Q8NHJ6-1"
            },
            {
                "start_pos": 109,
                "end_pos": 109,
                "sequence_org": "P",
                "sequence_mut": "A",
                "comment": "No significant change in APOE-mediated activation of LILRB4.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q8NHJ6",
                        "url": "https://www.uniprot.org/uniprotkb/Q8NHJ6"
                    },
                    {
                        "database": "PubMed",
                        "id": "30333625",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/30333625"
                    }
                ],
                "uniprot_canonical_ac": "Q8NHJ6-1"
            },
            {
                "start_pos": 111,
                "end_pos": 111,
                "sequence_org": "D",
                "sequence_mut": "A",
                "comment": "No significant change in APOE-mediated activation of LILRB4.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q8NHJ6",
                        "url": "https://www.uniprot.org/uniprotkb/Q8NHJ6"
                    },
                    {
                        "database": "PubMed",
                        "id": "30333625",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/30333625"
                    }
                ],
                "uniprot_canonical_ac": "Q8NHJ6-1"
            },
            {
                "start_pos": 112,
                "end_pos": 112,
                "sequence_org": "P",
                "sequence_mut": "A",
                "comment": "No significant change in APOE-mediated activation of LILRB4.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q8NHJ6",
                        "url": "https://www.uniprot.org/uniprotkb/Q8NHJ6"
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                        "database": "PubMed",
                        "id": "30333625",
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                "uniprot_canonical_ac": "Q8NHJ6-1"
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            {
                "start_pos": 113,
                "end_pos": 113,
                "sequence_org": "L",
                "sequence_mut": "A",
                "comment": "No significant change in APOE-mediated activation of LILRB4.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q8NHJ6",
                        "url": "https://www.uniprot.org/uniprotkb/Q8NHJ6"
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                    {
                        "database": "PubMed",
                        "id": "30333625",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/30333625"
                    }
                ],
                "uniprot_canonical_ac": "Q8NHJ6-1"
            },
            {
                "start_pos": 114,
                "end_pos": 114,
                "sequence_org": "E",
                "sequence_mut": "A",
                "comment": "No significant change in APOE-mediated activation of LILRB4.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q8NHJ6",
                        "url": "https://www.uniprot.org/uniprotkb/Q8NHJ6"
                    },
                    {
                        "database": "PubMed",
                        "id": "30333625",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/30333625"
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                "uniprot_canonical_ac": "Q8NHJ6-1"
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            {
                "start_pos": 121,
                "end_pos": 121,
                "sequence_org": "Y",
                "sequence_mut": "A",
                "comment": "Significant reduction in APOE-mediated activation of LILRB4.",
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                    {
                        "database": "UniProtKB",
                        "id": "Q8NHJ6",
                        "url": "https://www.uniprot.org/uniprotkb/Q8NHJ6"
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                    {
                        "database": "PubMed",
                        "id": "30333625",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/30333625"
                    }
                ],
                "uniprot_canonical_ac": "Q8NHJ6-1"
            },
            {
                "start_pos": 122,
                "end_pos": 122,
                "sequence_org": "S",
                "sequence_mut": "A",
                "comment": "No significant change in APOE-mediated activation of LILRB4.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q8NHJ6",
                        "url": "https://www.uniprot.org/uniprotkb/Q8NHJ6"
                    },
                    {
                        "database": "PubMed",
                        "id": "30333625",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/30333625"
                    }
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                "uniprot_canonical_ac": "Q8NHJ6-1"
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            {
                "start_pos": 147,
                "end_pos": 147,
                "sequence_org": "R",
                "sequence_mut": "A",
                "comment": "No significant change in APOE-mediated activation of LILRB4.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q8NHJ6",
                        "url": "https://www.uniprot.org/uniprotkb/Q8NHJ6"
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                        "database": "PubMed",
                        "id": "30333625",
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            {
                "start_pos": 149,
                "end_pos": 149,
                "sequence_org": "P",
                "sequence_mut": "A",
                "comment": "No significant change in APOE-mediated activation of LILRB4.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q8NHJ6",
                        "url": "https://www.uniprot.org/uniprotkb/Q8NHJ6"
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                        "database": "PubMed",
                        "id": "30333625",
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            {
                "start_pos": 162,
                "end_pos": 162,
                "sequence_org": "H",
                "sequence_mut": "A",
                "comment": "No significant change in APOE-mediated activation of LILRB4.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q8NHJ6",
                        "url": "https://www.uniprot.org/uniprotkb/Q8NHJ6"
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                        "database": "PubMed",
                        "id": "30333625",
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                "start_pos": 164,
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                "sequence_org": "L",
                "sequence_mut": "A",
                "comment": "No significant change in APOE-mediated activation of LILRB4.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q8NHJ6",
                        "url": "https://www.uniprot.org/uniprotkb/Q8NHJ6"
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                        "database": "PubMed",
                        "id": "30333625",
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            {
                "start_pos": 165,
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                "sequence_org": "L",
                "sequence_mut": "A",
                "comment": "No significant change in APOE-mediated activation of LILRB4.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q8NHJ6",
                        "url": "https://www.uniprot.org/uniprotkb/Q8NHJ6"
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                        "database": "PubMed",
                        "id": "30333625",
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                "start_pos": 167,
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                "sequence_org": "L",
                "sequence_mut": "A",
                "comment": "No significant change in APOE-mediated activation of LILRB4.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q8NHJ6",
                        "url": "https://www.uniprot.org/uniprotkb/Q8NHJ6"
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                "start_pos": 170,
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                "sequence_org": "E",
                "sequence_mut": "A",
                "comment": "No significant change in APOE-mediated activation of LILRB4.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q8NHJ6",
                        "url": "https://www.uniprot.org/uniprotkb/Q8NHJ6"
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                        "id": "30333625",
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                "start_pos": 183,
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                "sequence_org": "S",
                "sequence_mut": "A",
                "comment": "No significant change in APOE-mediated activation of LILRB4.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q8NHJ6",
                        "url": "https://www.uniprot.org/uniprotkb/Q8NHJ6"
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                "sequence_org": "P",
                "sequence_mut": "A",
                "comment": "No significant change in APOE-mediated activation of LILRB4.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q8NHJ6",
                        "url": "https://www.uniprot.org/uniprotkb/Q8NHJ6"
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                "start_pos": 186,
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                "sequence_org": "T",
                "sequence_mut": "A",
                "comment": "No significant change in APOE-mediated activation of LILRB4.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q8NHJ6",
                        "url": "https://www.uniprot.org/uniprotkb/Q8NHJ6"
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                "start_pos": 188,
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                "sequence_org": "V",
                "sequence_mut": "A",
                "comment": "No significant change in APOE-mediated activation of LILRB4.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q8NHJ6",
                        "url": "https://www.uniprot.org/uniprotkb/Q8NHJ6"
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                "start_pos": 199,
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                "sequence_org": "H",
                "sequence_mut": "A",
                "comment": "No significant change in APOE-mediated activation of LILRB4.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q8NHJ6",
                        "url": "https://www.uniprot.org/uniprotkb/Q8NHJ6"
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                        "database": "PubMed",
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                "start_pos": 201,
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                "sequence_org": "F",
                "sequence_mut": "A",
                "comment": "No significant change in APOE-mediated activation of LILRB4.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q8NHJ6",
                        "url": "https://www.uniprot.org/uniprotkb/Q8NHJ6"
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            {
                "start_pos": 202,
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                "sequence_org": "S",
                "sequence_mut": "A",
                "comment": "No significant change in APOE-mediated activation of LILRB4.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q8NHJ6",
                        "url": "https://www.uniprot.org/uniprotkb/Q8NHJ6"
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                "start_pos": 30,
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                "sequence_org": "T",
                "sequence_mut": "A",
                "comment": "No significant change in APOE-mediated activation of LILRB4.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q8NHJ6",
                        "url": "https://www.uniprot.org/uniprotkb/Q8NHJ6"
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                "start_pos": 35,
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                "sequence_org": "P",
                "sequence_mut": "A",
                "comment": "Significant reduction in APOE-mediated activation of LILRB4.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q8NHJ6",
                        "url": "https://www.uniprot.org/uniprotkb/Q8NHJ6"
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                "start_pos": 41,
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                "sequence_org": "W",
                "sequence_mut": "A",
                "comment": "No significant change in APOE-mediated activation of LILRB4.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q8NHJ6",
                        "url": "https://www.uniprot.org/uniprotkb/Q8NHJ6"
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                "start_pos": 59,
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                "sequence_org": "R",
                "sequence_mut": "A",
                "comment": "No significant change in APOE-mediated activation of LILRB4.",
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                    {
                        "database": "UniProtKB",
                        "id": "Q8NHJ6",
                        "url": "https://www.uniprot.org/uniprotkb/Q8NHJ6"
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                "start_pos": 63,
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                "sequence_org": "E",
                "sequence_mut": "A",
                "comment": "No significant change in APOE-mediated activation of LILRB4.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q8NHJ6",
                        "url": "https://www.uniprot.org/uniprotkb/Q8NHJ6"
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                "start_pos": 64,
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                "sequence_org": "E",
                "sequence_mut": "A",
                "comment": "No significant change in APOE-mediated activation of LILRB4.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q8NHJ6",
                        "url": "https://www.uniprot.org/uniprotkb/Q8NHJ6"
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                    {
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                        "id": "30333625",
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            {
                "start_pos": 65,
                "end_pos": 65,
                "sequence_org": "S",
                "sequence_mut": "A",
                "comment": "No significant change in APOE-mediated activation of LILRB4.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q8NHJ6",
                        "url": "https://www.uniprot.org/uniprotkb/Q8NHJ6"
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                    {
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                "sequence_org": "P",
                "sequence_mut": "A",
                "comment": "No significant change in APOE-mediated activation of LILRB4.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q8NHJ6",
                        "url": "https://www.uniprot.org/uniprotkb/Q8NHJ6"
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                "start_pos": 68,
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                "sequence_org": "P",
                "sequence_mut": "A",
                "comment": "No significant change in APOE-mediated activation of LILRB4.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q8NHJ6",
                        "url": "https://www.uniprot.org/uniprotkb/Q8NHJ6"
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                    {
                        "database": "PubMed",
                        "id": "30333625",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/30333625"
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                "start_pos": 91,
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                "sequence_org": "D",
                "sequence_mut": "A",
                "comment": "No significant change in APOE-mediated activation of LILRB4.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q8NHJ6",
                        "url": "https://www.uniprot.org/uniprotkb/Q8NHJ6"
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                    {
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            {
                "start_pos": 95,
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                "sequence_org": "R",
                "sequence_mut": "A",
                "comment": "No significant change in APOE-mediated activation of LILRB4.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q8NHJ6",
                        "url": "https://www.uniprot.org/uniprotkb/Q8NHJ6"
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                    {
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                "start_pos": 97,
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                "sequence_org": "R",
                "sequence_mut": "A",
                "comment": "No significant change in APOE-mediated activation of LILRB4.",
                "evidence": [
                    {
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        "title": "Interaction between ACOT7 and LncRNA NMRAL2P via Methylation Regulates Gastric Cancer Progression.",
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        "title": "USP3 promotes cisplatin resistance in non-small cell lung cancer cells by suppressing ACOT7-regulated ferroptosis.",
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                                "id": "MIM:613157",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/613157",
                                "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C3",
                                "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "613157",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/613157"
                            },
                            {
                                "id": "POMGNT1",
                                "database": "Genomics England",
                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMGNT1/#!details"
                            },
                            {
                                "id": "0110292",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0110292"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0111236",
                        "recommended_name": {
                            "id": "DOID:0111236",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111236",
                            "name": "congenital muscular dystrophy-dystroglycanopathy type A3",
                            "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0111236",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111236",
                                "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111236",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111236",
                                "name": "MDDGA3",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111236",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111236",
                                "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009667",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009667",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3",
                                "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life."
                            },
                            {
                                "id": "MONDO:0009667",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009667",
                                "name": "muscle-eye-brain-POMGNT1 related",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009667",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009667",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009667",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009667",
                                "name": "MDDGA3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009667",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009667",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:253280",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/253280",
                                "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3",
                                "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "253280",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/253280"
                            },
                            {
                                "id": "POMGNT1",
                                "database": "Genomics England",
                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMGNT1/#!details"
                            },
                            {
                                "id": "55624",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/55624#disease"
                            },
                            {
                                "id": "0111236",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111236"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0112378",
                        "recommended_name": {
                            "id": "DOID:0112378",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0112378",
                            "name": "muscular dystrophy-dystroglycanopathy type B3",
                            "description": "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34.1."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0112378",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0112378",
                                "name": "MDDGB3",
                                "description": ""
                            },
                            {
                                "id": "DOID:0112378",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0112378",
                                "name": "congenital muscular dystrophy POMGNT1-related",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013155",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013155",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013155",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013155",
                                "name": "congenital muscular dystrophy-POMGNT1 related",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013155",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013155",
                                "name": "MDDGB3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013155",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013155",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013155",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013155",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:613151",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/613151",
                                "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B3",
                                "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "613151",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/613151"
                            },
                            {
                                "id": "0112378",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0112378"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0061103",
                        "recommended_name": {
                            "id": "DOID:0061103",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0061103",
                            "name": "retinitis pigmentosa 76",
                            "description": "A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0061103",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0061103",
                                "name": "RP76",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014929",
                                "name": "retinitis pigmentosa 76",
                                "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene."
                            },
                            {
                                "id": "MONDO:0014929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014929",
                                "name": "POMGNT1 retinitis pigmentosa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014929",
                                "name": "RP76",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014929",
                                "name": "retinitis pigmentosa 76",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014929",
                                "name": "retinitis pigmentosa 76; RP76",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014929",
                                "name": "retinitis pigmentosa caused by mutation in POMGNT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014929",
                                "name": "retinitis pigmentosa type 76",
                                "description": ""
                            },
                            {
                                "id": "MIM:617123",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/617123",
                                "name": "Retinitis pigmentosa 76",
                                "description": "Retinitis pigmentosa 76"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "617123",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/617123"
                            },
                            {
                                "id": "POMGNT1",
                                "database": "Genomics England",
                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMGNT1/#!details"
                            },
                            {
                                "id": "0061103",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0061103"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "somatic",
                    "disease"
                ],
                "filter_code": "000100000000000000000.00000000000000.000000000001000000.00001.01.000.100",
                "uniprot_canonical_ac": "Q8WZA1-1"
            },
            {
                "evidence": [
                    {
                        "id": "rs267607210",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267607210"
                    },
                    {
                        "id": "rs267607210",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs267607210#frequency_tab"
                    },
                    {
                        "id": "rs267607210",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs267607210"
                    },
                    {
                        "id": "19067344",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/19067344"
                    },
                    {
                        "id": "rs267607210",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs267607210"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 331,
                "end_pos": 331,
                "sequence_org": "S",
                "sequence_mut": "F",
                "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.",
                "chr_id": "22",
                "chr_pos": "33384205",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S331",
                "disease": [
                    {
                        "disease_id": "DOID:0111242",
                        "recommended_name": {
                            "id": "DOID:0111242",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111242",
                            "name": "congenital muscular dystrophy-dystroglycanopathy type A6",
                            "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0111242",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111242",
                                "name": "Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111242",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111242",
                                "name": "MDDGA6",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111242",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111242",
                                "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013158",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013158",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6",
                                "description": "An autosomal recessive muscular dystrophy caused by mutations in the LARGE gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life."
                            },
                            {
                                "id": "MONDO:0013158",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013158",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013158",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013158",
                                "name": "MDDGA6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013158",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013158",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6",
                                "description": ""
                            },
                            {
                                "id": "MIM:613154",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/613154",
                                "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6",
                                "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "613154",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/613154"
                            },
                            {
                                "id": "LARGE1",
                                "database": "Genomics England",
                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/LARGE1/#!details"
                            },
                            {
                                "id": "0111242",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111242"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "somatic",
                    "disease"
                ],
                "filter_code": "000000000000000100000.00000000000000.000000000001000000.00001.11.000.001",
                "uniprot_canonical_ac": "O95461-1"
            },
            {
                "evidence": [
                    {
                        "id": "rs121908675",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908675"
                    },
                    {
                        "id": "rs121908675",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908675"
                    },
                    {
                        "id": "rs121908675",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs121908675#frequency_tab"
                    },
                    {
                        "id": "rs121908675",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs121908675"
                    },
                    {
                        "id": "12966029",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/12966029"
                    },
                    {
                        "id": "15661757",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/15661757"
                    },
                    {
                        "id": "19067344",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/19067344"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 509,
                "end_pos": 509,
                "sequence_org": "E",
                "sequence_mut": "K",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.",
                "chr_id": "22",
                "chr_pos": "33304434",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E509",
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "disease": [
                    {
                        "disease_id": "DOID:0110637",
                        "recommended_name": {
                            "id": "DOID:0110637",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0110637",
                            "name": "muscular dystrophy-dystroglycanopathy type B6",
                            "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0110637",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110637",
                                "name": "MDC1D",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110637",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110637",
                                "name": "MDDGB6",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110637",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110637",
                                "name": "congenital muscular dystrophy LARGE-related",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110637",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110637",
                                "name": "congenital muscular dystrophy type 1D",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110637",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110637",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110637",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110637",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012138",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012138",
                                "name": "muscular dystrophy-dystroglycanopathy type B6",
                                "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12."
                            },
                            {
                                "id": "MONDO:0012138",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012138",
                                "name": "MDC1D",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012138",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012138",
                                "name": "MDDGB6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012138",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012138",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012138",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012138",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6",
                                "description": ""
                            },
                            {
                                "id": "MIM:608840",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/608840",
                                "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B6",
                                "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B6"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0012138",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012138"
                            },
                            {
                                "id": "608840",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/608840"
                            },
                            {
                                "id": "LARGE1",
                                "database": "Genomics England",
                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/LARGE1/#!details"
                            },
                            {
                                "id": "9215",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/9215#disease"
                            },
                            {
                                "id": "0110637",
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