[
    {
        "title": "Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome?",
        "journal": "Clinical dysmorphology",
        "date": "1999-01",
        "authors": "Guion-Almeida M L, Richieri-Costa A",
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                            "name": "urinary bladder cancer",
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    {
        "title": "A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.",
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        "authors": "Procaccio V, Salazar G, Ono S, Styers ML, Gearing M, Davila A, Jimenez R, Juncos J, Gutekunst CA, Meroni G, Fontanella B, Sontag E, Sontag JM, Faundez V, Wainer BH",
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        ]
    },
    {
        "title": "Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations.",
        "journal": "European journal of human genetics : EJHG",
        "date": "2014-02",
        "authors": "Di Donato N, Rump A, Koenig R, Der Kaloustian V M, Halal F, Sonntag K, Krause C, Hackmann K, Hahn G, Schrock E, Verloes A",
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                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:5041",
                                "name": "malignant tumor of Distal Third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:5041",
                                "name": "malignant tumor of Proximal Third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:5041",
                                "name": "malignant tumor of abdominal esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:5041",
                                "name": "malignant tumor of the middle Third of the esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophageal cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the esophagus."
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "cancer of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "cancer of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophageal cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophageal cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophageal carcinoma, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophageal squamous cell carcinoma, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophagus cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant esophageal neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant esophageal tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant esophageal tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
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                                "name": "malignant esophagus neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant esophagus tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of the esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of the oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant oesophagus neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant oesophagus tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of the esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of the oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "oesophagus cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "Ca lower third esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "Ca lower third oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "Ca middle third esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "Ca middle third oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of distal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of distal third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of lower third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of lower third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of middle third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of middle third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of proximal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of proximal third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of upper third esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of upper third oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of abdominal esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of distal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of proximal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of the middle third of the esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of abdominal oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of distal third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of proximal third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of the middle third of the oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MIM:133239",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133239",
                                "name": "Esophageal cancer",
                                "description": "Esophageal cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "5041",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:5041"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0060229",
                        "recommended_name": {
                            "id": "DOID:0060229",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0060229",
                            "name": "Baraitser-Winter syndrome",
                            "description": "A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present."
                        },
                        "synonyms": [
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                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "Baraitser-Winter syndrome 1",
                                "description": "Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTB gene."
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "ACTB Baraitser-Winter cerebrofrontofacial syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "ACTB-related BAFopathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "Baraitser-Winter syndrome 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "Baraitser-Winter syndrome type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
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                            {
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                                "description": ""
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                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "iris coloboma with ptosis, hypertelorism, and mental retardation",
                                "description": ""
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                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
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                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
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                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/243310",
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                                "description": "Baraitser-Winter syndrome 1"
                            }
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                    },
                    {
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                        "recommended_name": {
                            "id": "DOID:0081112",
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                            "url": "https://disease-ontology.org/term/DOID:0081112",
                            "name": "Baraitser-Winter syndrome 1",
                            "description": "A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome."
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "ACTB Baraitser-Winter cerebrofrontofacial syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
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                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "Baraitser-Winter syndrome 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "Baraitser-Winter syndrome type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "Fryns-Aftimos syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "cerebrofrontofacial syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "BRWS1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "iris coloboma with ptosis, hypertelorism, and mental retardation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "mental retardation with epilepsy and characteristic facies",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "pachygyria, mental retardation, epilepsy, and characteristic facies",
                                "description": ""
                            },
                            {
                                "id": "MIM:243310",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/243310",
                                "name": "Baraitser-Winter syndrome 1",
                                "description": "Baraitser-Winter syndrome 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0081112",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0081112"
                            }
                        ]
                    }
                ],
                "keywords": [
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                    "cancer",
                    "disease",
                    "ebi"
                ],
                "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000",
                "uniprot_canonical_ac": "P60709-1"
            },
            {
                "evidence": [
                    {
                        "id": "rs587779774",
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                    },
                    {
                        "id": "rs587779774",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs587779774"
                    },
                    {
                        "id": "10327243",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/10327243"
                    },
                    {
                        "id": "1415343",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/1415343"
                    },
                    {
                        "id": "23756437",
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                        "url": "https://pubmed.ncbi.nlm.nih.gov/23756437"
                    },
                    {
                        "id": "25052316",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/25052316"
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                ],
                "glycoeffect": [
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                "start_pos": 120,
                "end_pos": 120,
                "sequence_org": "T",
                "sequence_mut": "I",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.",
                "chr_id": "7",
                "chr_pos": "5529165",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "T120",
                "keywords": [
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                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "BT - Brain tumour",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "adult brain tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "adult malignant brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "brain neoplasm, adult",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant brain tumour",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant primary brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant primary brain tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant tumor of Brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant tumor of adult brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "neoplasm of brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "primary brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "primary brain tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "primary malignant neoplasm of brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "tumor of the Brain",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:4203",
                            "DOID:3541",
                            "DOID:4706",
                            "DOID:1659",
                            "DOID:368"
                        ],
                        "evidence": [
                            {
                                "id": "1319",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1319"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:4159",
                        "recommended_name": {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:4159",
                            "name": "skin cancer",
                            "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "CA - skin cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "malignant neoplasm of skin",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "melanoma and Non-melanoma skin cancer",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:3149",
                            "DOID:3451"
                        ],
                        "evidence": [
                            {
                                "id": "4159",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4159"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0060229",
                        "recommended_name": {
                            "id": "DOID:0060229",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0060229",
                            "name": "Baraitser-Winter syndrome",
                            "description": "A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "Baraitser-Winter syndrome 1",
                                "description": "Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTB gene."
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "ACTB Baraitser-Winter cerebrofrontofacial syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "ACTB-related BAFopathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "Baraitser-Winter syndrome 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "Baraitser-Winter syndrome type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "Fryns-Aftimos syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "cerebrofrontofacial syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "BRWS1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "iris coloboma with ptosis, hypertelorism, and mental retardation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "mental retardation with epilepsy and characteristic facies",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "pachygyria, mental retardation, epilepsy, and characteristic facies",
                                "description": ""
                            },
                            {
                                "id": "MIM:243310",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/243310",
                                "name": "Baraitser-Winter syndrome 1",
                                "description": "Baraitser-Winter syndrome 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "243310",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/243310"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0081112",
                        "recommended_name": {
                            "id": "DOID:0081112",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0081112",
                            "name": "Baraitser-Winter syndrome 1",
                            "description": "A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "Baraitser-Winter syndrome 1",
                                "description": "Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTB gene."
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "ACTB Baraitser-Winter cerebrofrontofacial syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "ACTB-related BAFopathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "Baraitser-Winter syndrome 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "Baraitser-Winter syndrome type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "Fryns-Aftimos syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "cerebrofrontofacial syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "BRWS1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "iris coloboma with ptosis, hypertelorism, and mental retardation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "mental retardation with epilepsy and characteristic facies",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "pachygyria, mental retardation, epilepsy, and characteristic facies",
                                "description": ""
                            },
                            {
                                "id": "MIM:243310",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/243310",
                                "name": "Baraitser-Winter syndrome 1",
                                "description": "Baraitser-Winter syndrome 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0081112",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0081112"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ],
                "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.01.000.000",
                "uniprot_canonical_ac": "P60709-1"
            },
            {
                "evidence": [
                    {
                        "id": "P60709",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P60709"
                    },
                    {
                        "id": "rs2128241302",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2128241302"
                    },
                    {
                        "id": "rs2128241302",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2128241302"
                    },
                    {
                        "id": "28347698",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/28347698"
                    },
                    {
                        "id": "32170967",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/32170967"
                    },
                    {
                        "id": "rs2128241302",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2128241302"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 147,
                "end_pos": 147,
                "subjects_tested": "1906",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "R",
                "sequence_mut": "S",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, housekeeping gene).",
                "chr_id": "7",
                "chr_pos": "5528644",
                "ref_nt": "G",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "R147",
                "disease": [
                    {
                        "disease_id": "DOID:11054",
                        "recommended_name": {
                            "id": "DOID:11054",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:11054",
                            "name": "urinary bladder cancer",
                            "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:11054",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:11054",
                                "name": "bladder cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:11054",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:11054",
                                "name": "tumor of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the bladder."
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "tumor of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "tumour of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "bladder cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "cancer of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant bladder neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant bladder tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant bladder tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of the urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm, bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm, urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of the urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor, urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of the urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant urinary bladder neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant urinary bladder tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant urinary bladder tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
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    {
        "title": "ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.",
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                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant tumor of Brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant tumor of adult brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "neoplasm of brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "primary brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "primary brain tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "primary malignant neoplasm of brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "tumor of the Brain",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:4203",
                            "DOID:3541",
                            "DOID:4706",
                            "DOID:1659",
                            "DOID:368"
                        ],
                        "evidence": [
                            {
                                "id": "1319",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1319"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:4159",
                        "recommended_name": {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:4159",
                            "name": "skin cancer",
                            "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "CA - skin cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "malignant neoplasm of skin",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "melanoma and Non-melanoma skin cancer",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:3149",
                            "DOID:3451"
                        ],
                        "evidence": [
                            {
                                "id": "4159",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4159"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0060229",
                        "recommended_name": {
                            "id": "DOID:0060229",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0060229",
                            "name": "Baraitser-Winter syndrome",
                            "description": "A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "Baraitser-Winter syndrome 1",
                                "description": "Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTB gene."
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "ACTB Baraitser-Winter cerebrofrontofacial syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "ACTB-related BAFopathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "Baraitser-Winter syndrome 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "Baraitser-Winter syndrome type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "Fryns-Aftimos syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "cerebrofrontofacial syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "BRWS1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "iris coloboma with ptosis, hypertelorism, and mental retardation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "mental retardation with epilepsy and characteristic facies",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "pachygyria, mental retardation, epilepsy, and characteristic facies",
                                "description": ""
                            },
                            {
                                "id": "MIM:243310",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/243310",
                                "name": "Baraitser-Winter syndrome 1",
                                "description": "Baraitser-Winter syndrome 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "243310",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/243310"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0081112",
                        "recommended_name": {
                            "id": "DOID:0081112",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0081112",
                            "name": "Baraitser-Winter syndrome 1",
                            "description": "A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0009470",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "Baraitser-Winter syndrome 1",
                                "description": "Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTB gene."
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "ACTB Baraitser-Winter cerebrofrontofacial syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "ACTB-related BAFopathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "Baraitser-Winter syndrome 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "Baraitser-Winter syndrome type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "Fryns-Aftimos syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "cerebrofrontofacial syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "BRWS1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "iris coloboma with ptosis, hypertelorism, and mental retardation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "mental retardation with epilepsy and characteristic facies",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009470",
                                "name": "pachygyria, mental retardation, epilepsy, and characteristic facies",
                                "description": ""
                            },
                            {
                                "id": "MIM:243310",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/243310",
                                "name": "Baraitser-Winter syndrome 1",
                                "description": "Baraitser-Winter syndrome 1"
                            }
                        ],
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                        "evidence": [
                            {
                                "id": "0081112",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0081112"
                            }
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                    {
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                    {
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                "glycoeffect": [],
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                "subjects_tested": "1906",
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                "sequence_org": "R",
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                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, housekeeping gene).",
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                "chr_pos": "5528644",
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                "minor_allelic_frequency": "",
                "site_lbl": "R147",
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                    {
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:11054",
                            "name": "urinary bladder cancer",
                            "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:11054",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:11054",
                                "name": "bladder cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:11054",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:11054",
                                "name": "tumor of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the bladder."
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "tumor of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "tumour of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "bladder cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "cancer of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant bladder neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant bladder tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant bladder tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of the urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm, bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm, urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of the urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor, urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of the urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant urinary bladder neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant urinary bladder tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant urinary bladder tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder malignant neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder malignant tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder malignant tumour",
                                "description": ""
                            },
                            {
                                "id": "MIM:109800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/109800",
                                "name": "Bladder cancer",
                                "description": "Bladder cancer"
                            }
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        "title": "Frameshift mutation S368fs in the gene encoding cytoskeletal beta-actin leads to ACTB-associated syndromic thrombocytopenia by impairing actin dynamics.",
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        "date": "2022",
        "authors": "Greve JN, Schwabe FV, Pokrant T, Faix J, Di Donato N, Taft MH, Manstein DJ",
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    {
        "title": "A chemical approach for identifying O-GlcNAc-modified proteins in cells.",
        "journal": "Proceedings of the National Academy of Sciences of the United States of America",
        "date": "2003",
        "authors": "Vocadlo DJ, Hang HC, Kim EJ, Hanover JA, Bertozzi CR",
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    {
        "title": "Small Molecule-Activated O-GlcNAcase for Spatiotemporal Removal of O-GlcNAc in Live Cells.",
        "journal": "ACS chemical biology",
        "date": "2023-01-20",
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                        "field": "o_linked_glycans",
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                        "field": "o_linked_glycans",
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    {
        "title": "Sumoylation inhibits cleavage of Sp1 N-terminal negative regulatory domain and inhibits Sp1-dependent transcription.",
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        "date": "2006",
        "authors": "Spengler ML, Brattain MG",
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    {
        "title": "Phosphatidylinositol 3-kinase/protein kinase Czeta-induced phosphorylation of Sp1 and p107 repressor release have a critical role in histone deacetylase inhibitor-mediated derepression [corrected] of transcription of the luteinizing hormone receptor gene.",
        "journal": "Molecular and cellular biology",
        "date": "2006",
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        "title": "Increased chromatin association of Sp1 in interphase cells by PP2A-mediated dephosphorylations.",
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        "title": "Phosphorylation by c-Jun NH2-terminal kinase 1 regulates the stability of transcription factor Sp1 during mitosis.",
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        "title": "Phosphorylation mediates Sp1 coupled activities of proteolytic processing, desumoylation and degradation.",
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                "comment": "Exhibits attenuated endoproteolytic cleavage; when associated with A-728.",
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                    {
                        "database": "UniProtKB",
                        "id": "P08047",
                        "url": "https://www.uniprot.org/uniprotkb/P08047"
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                "start_pos": 7,
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                "sequence_org": "S",
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                        "database": "UniProtKB",
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                    {
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                        "id": "16964243",
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                    {
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                    {
                        "database": "PubMed",
                        "id": "18199680",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/18199680"
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                        "database": "PubMed",
                        "id": "23186163",
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                    {
                        "database": "PubMed",
                        "id": "18239466",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/18239466"
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                    {
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                    {
                        "database": "PubMed",
                        "id": "15302935",
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                    {
                        "database": "PRO",
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                "uniprot_canonical_ac": "P08047-1"
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            {
                "start_pos": 7,
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                    {
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                    {
                        "database": "PubMed",
                        "id": "20068231",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/20068231"
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                    {
                        "database": "PubMed",
                        "id": "21406692",
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                    {
                        "database": "iPTMnet",
                        "id": "P08047",
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                    {
                        "database": "PubMed",
                        "id": "19651622",
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        "record_id": "pubmed.18239466",
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        "snv": [],
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            {
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                "table_id": "glycosylation_reported_with_glycan",
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                "table_id": "glycosylation_automatic_literature_mining",
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        ]
    },
    {
        "title": "Angiotensin II-inducible platelet-derived growth factor-D transcription requires specific Ser/Thr residues in the second zinc finger region of Sp1.",
        "journal": "Circulation research",
        "date": "2008",
        "authors": "Tan NY, Midgley VC, Kavurma MM, Santiago FS, Luo X, Peden R, Fahmy RG, Berndt MC, Molloy MP, Khachigian LM",
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            "type": "PubMed",
            "id": "18258854",
            "url": "https://pubmed.ncbi.nlm.nih.gov/18258854"
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        "referenced_glycans": [],
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            {
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        ],
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                "name": "Homo sapiens",
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                ],
                "common_name": "Human",
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                "reference_species": "Homo sapiens [9606]"
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        ],
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                "start_pos": 668,
                "end_pos": 668,
                "sequence_org": "T",
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                "comment": "Abolishes PRKCzeta-mediated but not PKCdelta-mediated phosphorylation. No effect on DNA binding; when associated with A-670 and A-681.",
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                    {
                        "database": "UniProtKB",
                        "id": "P08047",
                        "url": "https://www.uniprot.org/uniprotkb/P08047"
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                    {
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                        "url": "https://pubmed.ncbi.nlm.nih.gov/18258854"
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                ],
                "uniprot_canonical_ac": "P08047-1"
            },
            {
                "start_pos": 670,
                "end_pos": 670,
                "sequence_org": "S",
                "sequence_mut": "A",
                "comment": "Abolishes PRKCzeta-mediated but not PKCdelta-mediated phosphorylation. No effect on DNA binding; when associated with A-668 and A-681.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "P08047",
                        "url": "https://www.uniprot.org/uniprotkb/P08047"
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                    {
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                ],
                "uniprot_canonical_ac": "P08047-1"
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            {
                "start_pos": 681,
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                "sequence_org": "T",
                "sequence_mut": "A",
                "comment": "Abolishes PRKCzeta-mediated but not PKCdelta-mediated phosphorylation. Some effect on dephosphorylation by PP2A. No effect on DNA binding; when associated with A-668 and A-681.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "P08047",
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                    {
                        "database": "PubMed",
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                ],
                "uniprot_canonical_ac": "P08047-1"
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        ],
        "phosphorylation": [
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                "start_pos": 641,
                "end_pos": 641,
                "kinase_uniprot_canonical_ac": "Q05513-1",
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                "evidence": [
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                        "database": "iPTMnet",
                        "id": "P08047",
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                    {
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                        "id": "16943418",
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                    {
                        "database": "PubMed",
                        "id": "18258854",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/18258854"
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                    {
                        "database": "PubMed",
                        "id": "19464346",
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                "site_lbl": "Ser641",
                "uniprot_canonical_ac": "P08047-1"
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                        "id": "18258854",
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    {
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