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                            "name": "colorectal cancer",
                            "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, advanced, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer with chromosomal instability, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectum cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectum neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "CRC",
                                "description": ""
                            },
                            {
                                "id": "MIM:114500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/114500",
                                "name": "Colorectal cancer",
                                "description": "Colorectal cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "9256",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:9256"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3659",
                        "recommended_name": {
                            "id": "DOID:3659",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:3659",
                            "name": "sialuria",
                            "description": "A lysosomal storage disease characterized by increased sialic acid in the urine."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0010028",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010028",
                                "name": "sialuria",
                                "description": "Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood."
                            },
                            {
                                "id": "MONDO:0010028",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010028",
                                "name": "sialuria",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010028",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010028",
                                "name": "sialuria, French type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "Salla disease",
                                "description": "Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive."
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "Salla disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "sialic acid storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "SD",
                                "description": ""
                            },
                            {
                                "id": "MIM:269921",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/269921",
                                "name": "Sialuria",
                                "description": "Sialuria"
                            },
                            {
                                "id": "MIM:604369",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/604369",
                                "name": "Salla disease",
                                "description": "Salla disease"
                            }
                        ],
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                            {
                                "id": "269921",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/269921"
                            },
                            {
                                "id": "3659",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3659"
                            },
                            {
                                "id": "3659",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3659"
                            }
                        ]
                    }
                ],
                "keywords": [
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                    "somatic",
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                    "ebi",
                    "germline"
                ],
                "filter_code": "000000000001000000000.00000000000000.000000000001000000.00001.11.000.000",
                "uniprot_canonical_ac": "Q9NRA2-1"
            },
            {
                "evidence": [
                    {
                        "id": "Q9NRA2",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRA2"
                    },
                    {
                        "id": "rs80338794",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs80338794"
                    },
                    {
                        "id": "rs80338794",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs80338794"
                    },
                    {
                        "id": "rs80338794",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs80338794"
                    },
                    {
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                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs80338794#frequency_tab"
                    },
                    {
                        "id": "rs80338794",
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                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs80338794"
                    },
                    {
                        "id": "10581036",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/10581036"
                    },
                    {
                        "id": "10947946",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/10947946"
                    },
                    {
                        "id": "12794687",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/12794687"
                    },
                    {
                        "id": "12794688",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/12794688"
                    },
                    {
                        "id": "15510212",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/15510212"
                    },
                    {
                        "id": "15516337",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/15516337"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 39,
                "end_pos": 39,
                "subjects_tested": "2617",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "R",
                "sequence_mut": "C",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate synthesis and metabolism/transporter).",
                "chr_id": "6",
                "chr_pos": "73644583",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "R39",
                "disease": [
                    {
                        "disease_id": "DOID:1793",
                        "recommended_name": {
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:1793",
                            "name": "pancreatic cancer",
                            "description": "An endocrine gland cancer located_in the pancreas."
                        },
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                            {
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                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1793",
                                "name": "Ca body of pancreas",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1793",
                                "name": "Ca head of pancreas",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1793",
                                "name": "Ca tail of pancreas",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1793",
                                "name": "malignant neoplasm of body of pancreas",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1793",
                                "name": "malignant neoplasm of head of pancreas",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1793",
                                "name": "malignant neoplasm of tail of pancreas",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1793",
                                "name": "pancreas neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1793",
                                "name": "pancreatic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1793",
                                "name": "pancreatic tumor",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:1795"
                        ],
                        "evidence": [
                            {
                                "id": "1793",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1793"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3659",
                        "recommended_name": {
                            "id": "DOID:3659",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:3659",
                            "name": "sialuria",
                            "description": "A lysosomal storage disease characterized by increased sialic acid in the urine."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0010028",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010028",
                                "name": "sialuria",
                                "description": "Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood."
                            },
                            {
                                "id": "MONDO:0010028",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010028",
                                "name": "sialuria",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010028",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010028",
                                "name": "sialuria, French type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "Salla disease",
                                "description": "Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive."
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "Salla disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "sialic acid storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "SD",
                                "description": ""
                            },
                            {
                                "id": "MIM:269921",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/269921",
                                "name": "Sialuria",
                                "description": "Sialuria"
                            },
                            {
                                "id": "MIM:604369",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/604369",
                                "name": "Salla disease",
                                "description": "Salla disease"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "269921",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/269921"
                            },
                            {
                                "id": "3659",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3659"
                            },
                            {
                                "id": "3659",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3659"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi",
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        "authors": "Ceriani M, Amigoni L, D'Aloia A, Berruti G, Martegani E",
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