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        "title": "G Protein beta gamma subunits act on the catalytic domain to stimulate Bruton's agammaglobulinemia tyrosine kinase.",
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    {
        "title": "Mutations in G protein beta subunits promote transformation and kinase inhibitor resistance.",
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        "date": "2015",
        "authors": "Yoda A, Adelmant G, Tamburini J, Chapuy B, Shindoh N, Yoda Y, Weigert O, Kopp N, Wu SC, Kim SS, Liu H, Tivey T, Christie AL, Elpek KG, Card J, Gritsman K, Gotlib J, Deininger MW, Makishima H, Turley SJ, Javidi-Sharifi N, Maciejewski JP, Jaiswal S, Ebert BL, Rodig SJ, Tyner JW, Marto JA, Weinstock DM, Lane AA",
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                                "id": "MONDO:0014855",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014855",
                                "name": "mental retardation, autosomal dominant type 42",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014855",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014855",
                                "name": "GNB1 autosomal dominant non-syndromic intellectual disability",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014855",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014855",
                                "name": "autosomal dominant non-syndromic intellectual disability 42",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014855",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014855",
                                "name": "autosomal dominant non-syndromic intellectual disability caused by mutation in GNB1",
                                "description": ""
                            },
                            {
                                "id": "MIM:616973",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/616973",
                                "name": "Intellectual developmental disorder, autosomal dominant 42",
                                "description": "Intellectual developmental disorder, autosomal dominant 42"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0070072",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0070072"
                            },
                            {
                                "id": "0070072",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0070072"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0050908",
                        "recommended_name": {
                            "id": "DOID:0050908",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0050908",
                            "name": "myelodysplastic syndrome",
                            "description": "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "myelodysplastic syndrome",
                                "description": "A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001)"
                            },
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "MDS, unclassifiable",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "MDS-U",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "Myelodysplastic Syndromes",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "dysmyelopoietic syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "hematopoeitic - myelodysplastic syndrome (MDS)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "myelodysplasia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "myelodysplastic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "myelodysplastic syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "myelodysplastic syndrome, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "myelodysplastic syndrome, unclassifiable",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "myelodysplastic syndrome/neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "myelodysplastic syndromes",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "oligoblastic leukaemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "oligoblastic leukemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "preleukemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "smoldering leukemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "smouldering leukaemia",
                                "description": ""
                            },
                            {
                                "id": "MIM:614286",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/614286",
                                "name": "Myelodysplastic syndrome",
                                "description": "Myelodysplastic syndrome"
                            }
                        ],
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                            {
                                "id": "0050908",
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                            }
                        ]
                    }
                ],
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                    "ebi"
                ],
                "filter_code": "000000000100000000000.00000000000000.000000000001000000.00001.11.000.000",
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            },
            {
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                    {
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                    },
                    {
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                    },
                    {
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                    {
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                    },
                    {
                        "id": "rs869312821",
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                "glycoeffect": [],
                "start_pos": 76,
                "end_pos": 76,
                "subjects_tested": "9251",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "D",
                "sequence_mut": "G",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis).",
                "chr_id": "1",
                "chr_pos": "1806515",
                "ref_nt": "T",
                "alt_nt": "C",
                "minor_allelic_frequency": "",
                "site_lbl": "D76",
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                            "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes."
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                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
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                                "description": ""
                            },
                            {
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                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
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                            },
                            {
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                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "blood cancer",
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                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic and lymphoid system tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
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                            {
                                "id": "DOID:2531",
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                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "malignant hematopoietic neoplasm",
                                "description": ""
                            }
                        ],
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                            "DOID:1039",
                            "DOID:5604",
                            "DOID:6536",
                            "DOID:0080638",
                            "DOID:7757",
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                    },
                    {
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                            "url": "https://disease-ontology.org/term/DOID:9952",
                            "name": "acute lymphoblastic leukemia",
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                            {
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                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:9952",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:9952",
                                "name": "acute lymphocytic leukaemia",
                                "description": ""
                            },
                            {
                                "id": "DOID:9952",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:9952",
                                "name": "ALL",
                                "description": ""
                            },
                            {
                                "id": "DOID:9952",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:9952",
                                "name": "precursor lymphoblastic lymphoma/leukemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009539",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009539",
                                "name": "lymphoblastic leukemia, acute, with lymphomatous features",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009539",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009539",
                                "name": "leukemia, acute lymphoblastic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009539",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009539",
                                "name": "lymphoblastic leukemia, acute, with lymphomatous features",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009539",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009539",
                                "name": "lall",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013108",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013108",
                                "name": "leukemia, acute lymphocytic, susceptibility to, 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013108",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013108",
                                "name": "T-cell acute lymphoblastic leukemia, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013108",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013108",
                                "name": "leukemia, T-cell acute lymphoblastic, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013108",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013108",
                                "name": "leukemia, T-cell acute lymphocytic, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013108",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013108",
                                "name": "leukemia, acute lymphoblastic, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013108",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013108",
                                "name": "leukemia, acute lymphocytic, Philadelphia chromosome positive, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013108",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013108",
                                "name": "leukemia, acute lymphocytic, susceptibility to, 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013108",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013108",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0013108",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013108",
                                "name": "leukemia, acute lymphoblastic",
                                "description": ""
                            },
                            {
                                "id": "MIM:613065",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/613065",
                                "name": "Leukemia, acute lymphoblastic",
                                "description": "Leukemia, acute lymphoblastic"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:0080638",
                            "DOID:5604"
                        ],
                        "evidence": [
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                                "id": "9952",
                                "database": "AGR",
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                    },
                    {
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                            "id": "DOID:0070072",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0070072",
                            "name": "autosomal dominant intellectual developmental disorder 42",
                            "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GNB1 gene on chromosome 1p36.33."
                        },
                        "synonyms": [
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                                "id": "DOID:0070072",
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                                "id": "DOID:0070072",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0070072",
                                "name": "autosomal dominant mental retardation 42",
                                "description": ""
                            },
                            {
                                "id": "DOID:0070072",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0070072",
                                "name": "autosomal dominant non-syndromic intellectual disability 42",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014855",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014855",
                                "name": "intellectual disability, autosomal dominant 42",
                                "description": "Any autosomal dominant intellectual disability in which the cause of the disease is a heterozygous mutation in the GNB1 gene. It is characterized by global developmental delay, intellectual disability, hypotonia, structural brain abnormalities, and seizures. Other less common findings include dystonia, visual impairment, behavior problems, growth delay, craniofacial defects, and genitourinary abnormalities in males."
                            },
                            {
                                "id": "MONDO:0014855",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014855",
                                "name": "GNB1-related disorder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014855",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014855",
                                "name": "GNB1-related neurodevelopmental disorder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014855",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014855",
                                "name": "MRD42",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014855",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014855",
                                "name": "autosomal dominant intellectual disability 42",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014855",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014855",
                                "name": "global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014855",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014855",
                                "name": "intellectual developmental disorder, autosomal dominant 42",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014855",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014855",
                                "name": "intellectual disability, autosomal dominant 42",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014855",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014855",
                                "name": "intellectual disability, autosomal dominant type 42",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014855",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014855",
                                "name": "mental retardation, autosomal dominant 42",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014855",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014855",
                                "name": "mental retardation, autosomal dominant type 42",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014855",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014855",
                                "name": "GNB1 autosomal dominant non-syndromic intellectual disability",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014855",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014855",
                                "name": "autosomal dominant non-syndromic intellectual disability 42",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014855",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014855",
                                "name": "autosomal dominant non-syndromic intellectual disability caused by mutation in GNB1",
                                "description": ""
                            },
                            {
                                "id": "MIM:616973",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/616973",
                                "name": "Intellectual developmental disorder, autosomal dominant 42",
                                "description": "Intellectual developmental disorder, autosomal dominant 42"
                            }
                        ],
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                            },
                            {
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    {
        "title": "Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.",
        "journal": "American journal of human genetics",
        "date": "2016",
        "authors": "Petrovski S, Kury S, Myers CT, Anyane-Yeboa K, Cogne B, Bialer M, Xia F, Hemati P, Riviello J, Mehaffey M, Besnard T, Becraft E, Wadley A, Politi AR, Colombo S, Zhu X, Ren Z, Andrews I, Dudding-Byth T, Schneider AL, Wallace G, Rosen ABI, Schelley S, Enns GM, Corre P, Dalton J, Mercier S, Latypova X, Schmitt S, Guzman E, Moore C, Bier L, Heinzen EL, Karachunski P, Shur N, Grebe T, Basinger A, Nguyen JM, Bezieau S, Wierenga K, Bernstein JA, Scheffer IE, Rosenfeld JA, Mefford HC, Isidor B, Goldstein DB",
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                                "id": "MONDO:0014855",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0014855",
                                "name": "autosomal dominant non-syndromic intellectual disability 42",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014855",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014855",
                                "name": "autosomal dominant non-syndromic intellectual disability caused by mutation in GNB1",
                                "description": ""
                            },
                            {
                                "id": "MIM:616973",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/616973",
                                "name": "Intellectual developmental disorder, autosomal dominant 42",
                                "description": "Intellectual developmental disorder, autosomal dominant 42"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0070072",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0070072"
                            },
                            {
                                "id": "0070072",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0070072"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0050908",
                        "recommended_name": {
                            "id": "DOID:0050908",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0050908",
                            "name": "myelodysplastic syndrome",
                            "description": "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
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                                "description": "A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001)"
                            },
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "MDS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "MDS, unclassifiable",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "MDS-U",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "Myelodysplastic Syndromes",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "dysmyelopoietic syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "hematopoeitic - myelodysplastic syndrome (MDS)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "myelodysplasia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "myelodysplastic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "myelodysplastic syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "myelodysplastic syndrome, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "myelodysplastic syndrome, unclassifiable",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "myelodysplastic syndrome/neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "myelodysplastic syndromes",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "oligoblastic leukaemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "oligoblastic leukemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "preleukemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "smoldering leukemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "smouldering leukaemia",
                                "description": ""
                            },
                            {
                                "id": "MIM:614286",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/614286",
                                "name": "Myelodysplastic syndrome",
                                "description": "Myelodysplastic syndrome"
                            }
                        ],
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                            {
                                "id": "0050908",
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                        ]
                    }
                ],
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                    "ebi"
                ],
                "filter_code": "000000000100000000000.00000000000000.000000000001000000.00001.11.000.000",
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            {
                "evidence": [
                    {
                        "id": "rs869312825",
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                    },
                    {
                        "id": "rs869312825",
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                        "url": "https://www.ensembl.org/id/rs869312825"
                    },
                    {
                        "id": "27108799",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/27108799"
                    },
                    {
                        "id": "rs869312825",
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                        },
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                            },
                            {
                                "id": "DOID:0070072",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0070072",
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                                "description": ""
                            },
                            {
                                "id": "DOID:0070072",
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0014855",
                                "resource": "MONDO",
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                                "name": "GNB1-related neurodevelopmental disorder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014855",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0014855",
                                "resource": "MONDO",
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                            {
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                            {
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                                "description": ""
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                            {
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                                "description": ""
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                            {
                                "id": "MONDO:0014855",
                                "resource": "MONDO",
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                            {
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                            {
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                            {
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                                "id": "0070072",
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                            {
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                                "resource": "Disease Ontology",
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                                "description": ""
                            },
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                                "id": "DOID:2531",
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                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:2531",
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                            {
                                "id": "DOID:2531",
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                            {
                                "id": "DOID:2531",
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                            {
                                "id": "DOID:2531",
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                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "malignant hematopoietic neoplasm",
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                            }
                        ],
                        "unlinked_id_list": [
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                            "DOID:1039",
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                            "DOID:0080638",
                            "DOID:7757",
                            "DOID:0050743",
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                    },
                    {
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                            },
                            {
                                "id": "DOID:9952",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:9952",
                                "name": "acute lymphocytic leukaemia",
                                "description": ""
                            },
                            {
                                "id": "DOID:9952",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:9952",
                                "name": "ALL",
                                "description": ""
                            },
                            {
                                "id": "DOID:9952",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:9952",
                                "name": "precursor lymphoblastic lymphoma/leukemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009539",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009539",
                                "name": "lymphoblastic leukemia, acute, with lymphomatous features",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009539",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009539",
                                "name": "leukemia, acute lymphoblastic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009539",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009539",
                                "name": "lymphoblastic leukemia, acute, with lymphomatous features",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009539",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009539",
                                "name": "lall",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013108",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013108",
                                "name": "leukemia, acute lymphocytic, susceptibility to, 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013108",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013108",
                                "name": "T-cell acute lymphoblastic leukemia, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013108",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013108",
                                "name": "leukemia, T-cell acute lymphoblastic, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013108",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013108",
                                "name": "leukemia, T-cell acute lymphocytic, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013108",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013108",
                                "name": "leukemia, acute lymphoblastic, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013108",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013108",
                                "name": "leukemia, acute lymphocytic, Philadelphia chromosome positive, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013108",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013108",
                                "name": "leukemia, acute lymphocytic, susceptibility to, 1",
                                "description": ""
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                ],
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            {
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            {
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            {
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        ]
    },
    {
        "title": "Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.",
        "journal": "American journal of medical genetics. Part A",
        "date": "2018",
        "authors": "Hemati P, Revah-Politi A, Bassan H, Petrovski S, Bilancia CG, Ramsey K, Griffin NG, Bier L, Cho MT, Rosello M, Lynch SA, Colombo S, Weber A, Haug M, Heinzen EL, Sands TT, Narayanan V, Primiano M, Aggarwal VS, Millan F, Sattler-Holtrop SG, Caro-Llopis A, Pillar N, Baker J, Freedman R, Kroes HY, Sacharow S, Stong N, Lapunzina P, Schneider MC, Mendelsohn NJ, Singleton A, Loik Ramey V, Wou K, Kuzminsky A, Monfort S, Weiss M, Doyle S, Iglesias A, Martinez F, Mckenzie F, Orellana C, van Gassen KLI, Palomares M, Bazak L, Lee A, Bircher A, Basel-Vanagaite L, Hafstrom M, Houge G, Goldstein DB, Anyane-Yeboa K",
        "reference": {
            "type": "PubMed",
            "id": "30194818",
            "url": "https://pubmed.ncbi.nlm.nih.gov/30194818"
        },
        "referenced_glycans": [],
        "referenced_proteins": [
            {
                "uniprot_canonical_ac": "P62873-1",
                "protein_name": "Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1",
                "gene_name": "GNB1",
                "tax_name": "Human"
            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
                    {
                        "database": "UniProtKB",
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                        "url": "https://www.uniprot.org/uniprotkb/P62873"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "snv": [
            {
                "evidence": [
                    {
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                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P62873"
                    },
                    {
                        "id": "rs752746786",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752746786"
                    },
                    {
                        "id": "rs752746786",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752746786"
                    },
                    {
                        "id": "rs752746786",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs752746786#frequency_tab"
                    },
                    {
                        "id": "rs752746786",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs752746786"
                    },
                    {
                        "id": "25485910",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/25485910"
                    },
                    {
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                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/27108799"
                    },
                    {
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                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/30194818"
                    },
                    {
                        "id": "rs752746786",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs752746786"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 80,
                "end_pos": 80,
                "subjects_tested": "9251",
                "subjects_positive": "13",
                "frequency": "0.1",
                "sequence_org": "I",
                "sequence_mut": "T",
                "comment": "Somatic mutation passed 2 filters: patient count (13/9251); protein-of-interest(glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis).",
                "chr_id": "1",
                "chr_pos": "1806503",
                "ref_nt": "A",
                "alt_nt": "G",
                "minor_allelic_frequency": "",
                "site_lbl": "I80",
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                    {
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                                "url": "https://disease-ontology.org/term/DOID:2531",
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                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:2531",
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                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
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                                "name": "malignant hematopoietic neoplasm",
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                            "DOID:706",
                            "DOID:1039",
                            "DOID:5604",
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                            "DOID:7757",
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                            "DOID:4960",
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                            "DOID:1036",
                            "DOID:5772"
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                                "name": "acute lymphocytic leukaemia",
                                "description": ""
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                            {
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                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:9952",
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                                "url": "https://disease-ontology.org/term/DOID:9952",
                                "name": "precursor lymphoblastic lymphoma/leukemia",
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                                "name": "lymphoblastic leukemia, acute, with lymphomatous features",
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                            {
                                "id": "MONDO:0009539",
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                            {
                                "id": "MONDO:0009539",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009539",
                                "name": "lymphoblastic leukemia, acute, with lymphomatous features",
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                                "id": "MONDO:0009539",
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                            },
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                                "id": "MONDO:0013108",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0013108",
                                "name": "leukemia, acute lymphocytic, susceptibility to, 1",
                                "description": ""
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                            {
                                "id": "MONDO:0013108",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013108",
                                "name": "T-cell acute lymphoblastic leukemia, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013108",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013108",
                                "name": "leukemia, T-cell acute lymphoblastic, somatic",
                                "description": ""
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                            {
                                "id": "MONDO:0013108",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013108",
                                "name": "leukemia, T-cell acute lymphocytic, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013108",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013108",
                                "name": "leukemia, acute lymphoblastic, somatic",
                                "description": ""
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                            {
                                "id": "MONDO:0013108",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013108",
                                "name": "leukemia, acute lymphocytic, Philadelphia chromosome positive, somatic",
                                "description": ""
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                            {
                                "id": "MONDO:0013108",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013108",
                                "name": "leukemia, acute lymphocytic, susceptibility to, 1",
                                "description": ""
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                            {
                                "id": "MONDO:0013108",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013108",
                                "name": "ALL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013108",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013108",
                                "name": "leukemia, acute lymphoblastic",
                                "description": ""
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                                "id": "MIM:613065",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/613065",
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                                "description": "Leukemia, acute lymphoblastic"
                            }
                        ],
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                            "DOID:5604"
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                    },
                    {
                        "disease_id": "DOID:0070072",
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                            "id": "DOID:0070072",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0070072",
                            "name": "autosomal dominant intellectual developmental disorder 42",
                            "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GNB1 gene on chromosome 1p36.33."
                        },
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                                "id": "DOID:0070072",
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                                "url": "https://disease-ontology.org/term/DOID:0070072",
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                                "description": ""
                            },
                            {
                                "id": "DOID:0070072",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0070072",
                                "name": "autosomal dominant mental retardation 42",
                                "description": ""
                            },
                            {
                                "id": "DOID:0070072",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0070072",
                                "name": "autosomal dominant non-syndromic intellectual disability 42",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014855",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0014855",
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                                "description": "Any autosomal dominant intellectual disability in which the cause of the disease is a heterozygous mutation in the GNB1 gene. It is characterized by global developmental delay, intellectual disability, hypotonia, structural brain abnormalities, and seizures. Other less common findings include dystonia, visual impairment, behavior problems, growth delay, craniofacial defects, and genitourinary abnormalities in males."
                            },
                            {
                                "id": "MONDO:0014855",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014855",
                                "name": "GNB1-related disorder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014855",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014855",
                                "name": "GNB1-related neurodevelopmental disorder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014855",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014855",
                                "name": "MRD42",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014855",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014855",
                                "name": "autosomal dominant intellectual disability 42",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014855",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014855",
                                "name": "global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014855",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014855",
                                "name": "intellectual developmental disorder, autosomal dominant 42",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014855",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014855",
                                "name": "intellectual disability, autosomal dominant 42",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014855",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014855",
                                "name": "intellectual disability, autosomal dominant type 42",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014855",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014855",
                                "name": "mental retardation, autosomal dominant 42",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014855",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014855",
                                "name": "mental retardation, autosomal dominant type 42",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014855",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014855",
                                "name": "GNB1 autosomal dominant non-syndromic intellectual disability",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014855",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014855",
                                "name": "autosomal dominant non-syndromic intellectual disability 42",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014855",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014855",
                                "name": "autosomal dominant non-syndromic intellectual disability caused by mutation in GNB1",
                                "description": ""
                            },
                            {
                                "id": "MIM:616973",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/616973",
                                "name": "Intellectual developmental disorder, autosomal dominant 42",
                                "description": "Intellectual developmental disorder, autosomal dominant 42"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0070072",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0070072"
                            },
                            {
                                "id": "0070072",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0070072"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0050908",
                        "recommended_name": {
                            "id": "DOID:0050908",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0050908",
                            "name": "myelodysplastic syndrome",
                            "description": "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets."
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                        "synonyms": [
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "myelodysplastic syndrome",
                                "description": "A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001)"
                            },
                            {
                                "id": "MONDO:0018881",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018881",
                                "name": "MDS",
                                "description": ""
                            },
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]
