{
    "uniprot_canonical_ac": "O75503-1",
    "uniprot_ac": "O75503",
    "uniprot_id": "CLN5_HUMAN",
    "mass": {
        "chemical_mass": 41497.0,
        "monoisotopic_mass": 41497.0
    },
    "refseq": {
        "ac": "NP_006484",
        "name": "ceroid-lipofuscinosis neuronal protein 5 isoform 1",
        "summary": "This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function.[provided by RefSeq, Oct 2008].",
        "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006484"
    },
    "gene_names": [
        {
            "name": "CLN5",
            "resource": "UniProtKB",
            "type": "recommended",
            "url": "https://www.uniprot.org/uniprot/O75503",
            "id": "O75503"
        },
        {
            "name": "CLN5",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006484",
            "id": "NP_006484"
        }
    ],
    "protein_names": [
        {
            "name": "Ceroid-lipofuscinosis neuronal protein 5",
            "resource": "UniProtKB",
            "type": "recommended",
            "url": "",
            "id": "O75503"
        },
        {
            "name": "Protein CLN5",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "",
            "id": "O75503"
        },
        {
            "name": "ceroid-lipofuscinosis neuronal protein 5 isoform 1",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006484",
            "id": "NP_006484"
        },
        {
            "name": "ceroid-lipofuscinosis neuronal protein 5; ceroid-lipofuscinosis, neuronal 5",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006484",
            "id": "NP_006484"
        }
    ],
    "function": [
        {
            "annotation": "Cln5 represents a new type of cysteine-based S-depalmitoylase linked to neurodegeneration.",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_006484",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006484"
                },
                {
                    "database": "PubMed",
                    "id": "35427157",
                    "url": "https://glygen.org/publication/PubMed/35427157"
                }
            ]
        },
        {
            "annotation": "Deficiency of the Lysosomal Protein CLN5 Alters Lysosomal Function and Movement. Publication Status: Online-Only",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_006484",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006484"
                },
                {
                    "database": "PubMed",
                    "id": "34680045",
                    "url": "https://glygen.org/publication/PubMed/34680045"
                }
            ]
        },
        {
            "annotation": "Lysosomal dysfunction, autophagic defects, and CLN5 accumulation underlie the pathogenesis of KCTD7-mutated neuronal ceroid lipofuscinoses.",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_006484",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006484"
                },
                {
                    "database": "PubMed",
                    "id": "36368077",
                    "url": "https://glygen.org/publication/PubMed/36368077"
                }
            ]
        },
        {
            "annotation": "Plays a role in influencing the retrograde trafficking of lysosomal sorting receptors SORT1 and IGF2R from the endosomes to the trans-Golgi network by controlling the recruitment of retromer complex to the endosomal membrane. Regulates the localization and activation of RAB7A which is required to recruit the retromer complex to the endosomal membrane (PubMed:22431521).",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "O75503",
                    "url": "https://www.uniprot.org/uniprot/O75503#function"
                },
                {
                    "database": "PubMed",
                    "id": "22431521",
                    "url": "https://glygen.org/publication/PubMed/22431521"
                }
            ]
        },
        {
            "annotation": "The Batten disease gene product CLN5 is the lysosomal bis(monoacylglycero)phosphate synthase.",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_006484",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006484"
                },
                {
                    "database": "PubMed",
                    "id": "37708259",
                    "url": "https://glygen.org/publication/PubMed/37708259"
                }
            ]
        },
        {
            "annotation": "This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function.[provided by RefSeq, Oct 2008].",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_006484",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006484"
                }
            ]
        }
    ],
    "disease": [
        {
            "disease_id": "DOID:0110728",
            "recommended_name": {
                "id": "DOID:0110728",
                "resource": "Disease Ontology",
                "url": "http://disease-ontology.org/term/DOID:0110728",
                "name": "neuronal ceroid lipofuscinosis 5",
                "description": "A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22."
            },
            "synonyms": [
                {
                    "id": "DOID:0110728",
                    "resource": "Disease Ontology",
                    "url": "http://disease-ontology.org/term/DOID:0110728",
                    "name": "CLN5",
                    "description": ""
                },
                {
                    "id": "DOID:0110728",
                    "resource": "Disease Ontology",
                    "url": "http://disease-ontology.org/term/DOID:0110728",
                    "name": "neuronal ceroid lipofuscinosis 5 variable age of onset",
                    "description": ""
                },
                {
                    "id": "MONDO:0009745",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009745",
                    "name": "neuronal ceroid lipofuscinosis 5",
                    "description": "Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms."
                },
                {
                    "id": "MONDO:0009745",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009745",
                    "name": "CLN5",
                    "description": ""
                },
                {
                    "id": "MONDO:0009745",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009745",
                    "name": "CLN5 neuronal ceroid lipofuscinosis",
                    "description": ""
                },
                {
                    "id": "MONDO:0009745",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009745",
                    "name": "ceroid lipofuscinosis, neuronal, type 5",
                    "description": ""
                },
                {
                    "id": "MONDO:0009745",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009745",
                    "name": "neuronal ceroid lipofuscinosis 5 variable age of onset",
                    "description": ""
                },
                {
                    "id": "MONDO:0009745",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009745",
                    "name": "neuronal ceroid lipofuscinosis caused by mutation in CLN5",
                    "description": ""
                },
                {
                    "id": "MONDO:0009745",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009745",
                    "name": "neuronal ceroid lipofuscinosis type 5",
                    "description": ""
                },
                {
                    "id": "MONDO:0009745",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009745",
                    "name": "CLN5 disease",
                    "description": ""
                },
                {
                    "id": "MONDO:0009745",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009745",
                    "name": "CLN5 disease, adult",
                    "description": ""
                },
                {
                    "id": "MONDO:0009745",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009745",
                    "name": "CLN5 disease, juvenile",
                    "description": ""
                },
                {
                    "id": "MONDO:0009745",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009745",
                    "name": "CLN5 disease, late infantile (subtype)",
                    "description": ""
                },
                {
                    "id": "MONDO:0009745",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009745",
                    "name": "Finnish Vlincl",
                    "description": ""
                },
                {
                    "id": "MONDO:0009745",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009745",
                    "name": "ceroid lipofuscinosis, neuronal, 5",
                    "description": ""
                },
                {
                    "id": "MONDO:0009745",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009745",
                    "name": "ceroid lipofuscinosis, neuronal, 5, variable Age at onset",
                    "description": ""
                },
                {
                    "id": "MONDO:0009745",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009745",
                    "name": "neuronal ceroid lipofuscinosis Finnish variant",
                    "description": ""
                },
                {
                    "id": "MONDO:0009745",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009745",
                    "name": "neuronal ceroid lipofuscinosis, late infantile, Finnish variant",
                    "description": ""
                },
                {
                    "id": "MIM:256731",
                    "resource": "MIM",
                    "url": "https://www.omim.org/entry/256731",
                    "name": "Ceroid lipofuscinosis, neuronal, 5",
                    "description": "Ceroid lipofuscinosis, neuronal, 5"
                }
            ],
            "evidence": [
                {
                    "id": "256731",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/256731"
                }
            ]
        }
    ],
    "snv": [
        {
            "evidence": [
                {
                    "id": "rs1305273453",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1305273453"
                },
                {
                    "id": "rs1305273453",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs1305273453#frequency_tab"
                },
                {
                    "id": "rs1305273453",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs1305273453"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 132,
            "end_pos": 132,
            "sequence_org": "T",
            "sequence_mut": "K",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYT->NYK).",
            "chr_id": "13",
            "chr_pos": "76995957",
            "ref_nt": "A",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "T132",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1203597595",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1203597595"
                },
                {
                    "id": "rs1203597595",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs1203597595"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 132,
            "end_pos": 132,
            "sequence_org": "T",
            "sequence_mut": "P",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYT->NYP).",
            "chr_id": "13",
            "chr_pos": "76996118",
            "ref_nt": "C",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "T132",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs386833975",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs386833975"
                },
                {
                    "id": "rs386833975",
                    "database": "ENSEMBL",
                    "url": "https://www.ensembl.org/id/rs386833975"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss"
            ],
            "start_pos": 143,
            "end_pos": 143,
            "sequence_org": "N",
            "sequence_mut": "S",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCT->SCT).",
            "chr_id": "13",
            "chr_pos": "76995990",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N143",
            "disease": [
                {
                    "disease_id": "DOID:0110728",
                    "recommended_name": {
                        "id": "DOID:0110728",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:0110728",
                        "name": "neuronal ceroid lipofuscinosis 5",
                        "description": "A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:0110728",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0110728",
                            "name": "CLN5",
                            "description": ""
                        },
                        {
                            "id": "DOID:0110728",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0110728",
                            "name": "neuronal ceroid lipofuscinosis 5 variable age of onset",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009745",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009745",
                            "name": "neuronal ceroid lipofuscinosis 5",
                            "description": "Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms."
                        },
                        {
                            "id": "MONDO:0009745",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009745",
                            "name": "CLN5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009745",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009745",
                            "name": "CLN5 neuronal ceroid lipofuscinosis",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009745",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009745",
                            "name": "ceroid lipofuscinosis, neuronal, type 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009745",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009745",
                            "name": "neuronal ceroid lipofuscinosis 5 variable age of onset",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009745",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009745",
                            "name": "neuronal ceroid lipofuscinosis caused by mutation in CLN5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009745",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009745",
                            "name": "neuronal ceroid lipofuscinosis type 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009745",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009745",
                            "name": "CLN5 disease",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009745",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009745",
                            "name": "CLN5 disease, adult",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009745",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009745",
                            "name": "CLN5 disease, juvenile",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009745",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009745",
                            "name": "CLN5 disease, late infantile (subtype)",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009745",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009745",
                            "name": "Finnish Vlincl",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009745",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009745",
                            "name": "ceroid lipofuscinosis, neuronal, 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009745",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009745",
                            "name": "ceroid lipofuscinosis, neuronal, 5, variable Age at onset",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009745",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009745",
                            "name": "neuronal ceroid lipofuscinosis Finnish variant",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009745",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009745",
                            "name": "neuronal ceroid lipofuscinosis, late infantile, Finnish variant",
                            "description": ""
                        },
                        {
                            "id": "MIM:256731",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/256731",
                            "name": "Ceroid lipofuscinosis, neuronal, 5",
                            "description": "Ceroid lipofuscinosis, neuronal, 5"
                        }
                    ]
                }
            ],
            "keywords": [
                "ebi",
                "germline",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1300275242",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1300275242"
                },
                {
                    "id": "rs1300275242",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs1300275242"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 145,
            "end_pos": 145,
            "sequence_org": "T",
            "sequence_mut": "A",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCT->NCA).",
            "chr_id": "13",
            "chr_pos": "76995995",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "T145",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs113944597",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs113944597"
                },
                {
                    "id": "rs113944597",
                    "database": "ENSEMBL",
                    "url": "https://www.ensembl.org/id/rs113944597"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 145,
            "end_pos": 145,
            "sequence_org": "T",
            "sequence_mut": "I",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCT->NCI).",
            "chr_id": "13",
            "chr_pos": "76995996",
            "ref_nt": "T",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "T145",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs759460716",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759460716"
                },
                {
                    "id": "rs759460716",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759460716"
                },
                {
                    "id": "rs759460716",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs759460716"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss"
            ],
            "start_pos": 178,
            "end_pos": 178,
            "sequence_org": "N",
            "sequence_mut": "H",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->HGT).",
            "chr_id": "13",
            "chr_pos": "76996094",
            "ref_nt": "C",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
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                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009745",
                            "name": "neuronal ceroid lipofuscinosis Finnish variant",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009745",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009745",
                            "name": "neuronal ceroid lipofuscinosis, late infantile, Finnish variant",
                            "description": ""
                        },
                        {
                            "id": "MIM:256731",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/256731",
                            "name": "Ceroid lipofuscinosis, neuronal, 5",
                            "description": "Ceroid lipofuscinosis, neuronal, 5"
                        }
                    ]
                }
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs2034346369",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2034346369"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 283,
            "end_pos": 283,
            "sequence_org": "T",
            "sequence_mut": "null",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKT->NKnull).",
            "chr_id": "13",
            "chr_pos": "77000736_77000737",
            "ref_nt": "p",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "T283",
            "keywords": [
                "ebi",
                "germline"
            ]
        }
    ],
    "mutagenesis": [
        {
            "start_pos": 130,
            "end_pos": 130,
            "sequence_org": "N",
            "sequence_mut": "Q",
            "comment": "Loss of glycosylation. Retained in the endoplasmic reticulum rather than reaching the lysosome.",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "O75503",
                    "url": "https://www.uniprot.org/uniprot/O75503"
                },
                {
                    "database": "PubMed",
                    "id": "24058541",
                    "url": "https://glygen.org/publication/PubMed/24058541"
                }
            ]
        },
        {
            "start_pos": 143,
            "end_pos": 143,
            "sequence_org": "N",
            "sequence_mut": "Q",
            "comment": "Loss of glycosylation. Effectively transported to the lysosome.",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "O75503",
                    "url": "https://www.uniprot.org/uniprot/O75503"
                },
                {
                    "database": "PubMed",
                    "id": "24058541",
                    "url": "https://glygen.org/publication/PubMed/24058541"
                }
            ]
        },
        {
            "start_pos": 178,
            "end_pos": 178,
            "sequence_org": "N",
            "sequence_mut": "Q",
            "comment": "Loss of glycosylation. Effectively transported to the lysosome.",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "O75503",
                    "url": "https://www.uniprot.org/uniprot/O75503"
                },
                {
                    "database": "PubMed",
                    "id": "24058541",
                    "url": "https://glygen.org/publication/PubMed/24058541"
                }
            ]
        },
        {
            "start_pos": 203,
            "end_pos": 203,
            "sequence_org": "N",
            "sequence_mut": "Q",
            "comment": "Loss of glycosylation. Retained in the endoplasmic reticulum rather than reaching the lysosome.",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "O75503",
                    "url": "https://www.uniprot.org/uniprot/O75503"
                },
                {
                    "database": "PubMed",
                    "id": "24058541",
                    "url": "https://glygen.org/publication/PubMed/24058541"
                }
            ]
        },
        {
            "start_pos": 255,
            "end_pos": 255,
            "sequence_org": "N",
            "sequence_mut": "Q",
            "comment": "Loss of glycosylation. Retained in the endoplasmic reticulum rather than reaching the lysosome.",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "O75503",
                    "url": "https://www.uniprot.org/uniprot/O75503"
                },
                {
                    "database": "PubMed",
                    "id": "24058541",
                    "url": "https://glygen.org/publication/PubMed/24058541"
                }
            ]
        },
        {
            "start_pos": 271,
            "end_pos": 271,
            "sequence_org": "N",
            "sequence_mut": "Q",
            "comment": "Loss of glycosylation. Retained in the endoplasmic reticulum rather than reaching the lysosome.",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "O75503",
                    "url": "https://www.uniprot.org/uniprot/O75503"
                },
                {
                    "database": "PubMed",
                    "id": "24058541",
                    "url": "https://glygen.org/publication/PubMed/24058541"
                }
            ]
        },
        {
            "start_pos": 281,
            "end_pos": 281,
            "sequence_org": "N",
            "sequence_mut": "Q",
            "comment": "Loss of glycosylation. Partially retained in the endoplasmic reticulum.",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "O75503",
                    "url": "https://www.uniprot.org/uniprot/O75503"
                },
                {
                    "database": "PubMed",
                    "id": "24058541",
                    "url": "https://glygen.org/publication/PubMed/24058541"
                }
            ]
        },
        {
            "start_pos": 352,
            "end_pos": 352,
            "sequence_org": "N",
            "sequence_mut": "Q",
            "comment": "Loss of glycosylation. Retained in the Golgi apparatus rather than reaching the lysosome.",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "O75503",
                    "url": "https://www.uniprot.org/uniprot/O75503"
                },
                {
                    "database": "PubMed",
                    "id": "24058541",
                    "url": "https://glygen.org/publication/PubMed/24058541"
                }
            ]
        }
    ],
    "expression_tissue": [
        {
            "tissue": {
                "name": "Adult mammalian kidney",
                "namespace": "UBERON",
                "id": "0000082",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000082"
            },
            "score": "87.79",
            "present": "HIGH",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000102805",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102805"
                }
            ]
        },
        {
            "tissue": {
                "name": "Oral cavity",
                "namespace": "UBERON",
                "id": "0000167",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000167"
            },
            "score": "81.32",
            "present": "HIGH",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000102805",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102805"
                }
            ]
        },
        {
            "tissue": {
                "name": "Stomach",
                "namespace": "UBERON",
                "id": "0000945",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000945"
            },
            "score": "82.35",
            "present": "HIGH",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000102805",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102805"
                }
            ]
        },
        {
            "tissue": {
                "name": "Uterus",
                "namespace": "UBERON",
                "id": "0000995",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000995"
            },
            "score": "59.34",
            "present": "LOW",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000102805",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102805"
                }
            ]
        },
        {
            "tissue": {
                "name": "Esophagus",
                "namespace": "UBERON",
                "id": "0001043",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001043"
            },
            "score": "93.3",
            "present": "HIGH",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000102805",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102805"
                }
            ]
        },
        {
            "tissue": {
                "name": "Rectum",
                "namespace": "UBERON",
                "id": "0001052",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001052"
            },
            "score": "90.31",
            "present": "HIGH",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000102805",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102805"
                }
            ]
        },
        {
            "tissue": {
                "name": "Colon",
                "namespace": "UBERON",
                "id": "0001155",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001155"
            },
            "score": "70.3",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000102805",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102805"
                }
            ]
        },
        {
            "tissue": {
                "name": "Urinary bladder",
                "namespace": "UBERON",
                "id": "0001255",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001255"
            },
            "score": "86.07",
            "present": "HIGH",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000102805",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102805"
                }
            ]
        },
        {
            "tissue": {
                "name": "Thyroid gland",
                "namespace": "UBERON",
                "id": "0002046",
                "url": "http://purl.obolibrary.org/obo/UBERON_0002046"
            },
            "score": "95.74",
            "present": "HIGH",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000102805",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102805"
                }
            ]
        },
        {
            "tissue": {
                "name": "Lung",
                "namespace": "UBERON",
                "id": "0002048",
                "url": "http://purl.obolibrary.org/obo/UBERON_0002048"
            },
            "score": "68.87",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000102805",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102805"
                }
            ]
        },
        {
            "tissue": {
                "name": "Liver",
                "namespace": "UBERON",
                "id": "0002107",
                "url": "http://purl.obolibrary.org/obo/UBERON_0002107"
            },
            "score": "84.73",
            "present": "HIGH",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000102805",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102805"
                }
            ]
        },
        {
            "tissue": {
                "name": "Prostate gland",
                "namespace": "UBERON",
                "id": "0002367",
                "url": "http://purl.obolibrary.org/obo/UBERON_0002367"
            },
            "score": "87.1",
            "present": "HIGH",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000102805",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102805"
                }
            ]
        },
        {
            "tissue": {
                "name": "Thoracic mammary gland",
                "namespace": "UBERON",
                "id": "0005200",
                "url": "http://purl.obolibrary.org/obo/UBERON_0005200"
            },
            "score": "89.36",
            "present": "HIGH",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000102805",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102805"
                }
            ]
        }
    ],
    "expression_disease": [
        {
            "significant": "Yes",
            "trend": "down",
            "name": "Prostate cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:10283",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O75503",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75503"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:10283",
                    "recommended_name": {
                        "id": "DOID:10283",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:10283",
                        "name": "prostate cancer",
                        "description": "A male reproductive organ cancer that is located_in the prostate."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "NGP - new growth of prostate",
                            "description": ""
                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "hereditary prostate cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "malignant tumor of the prostate",
                            "description": ""
                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "prostate cancer, familial",
                            "description": ""
                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "prostate neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "prostatic cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "prostatic neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "tumor of the prostate",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012597",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                            "name": "prostate cancer, hereditary, 9",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012597",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                            "name": "prostate cancer, hereditary, 9",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012597",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                            "name": "prostate cancer, hereditary, type 9",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012597",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                            "name": "HPC9",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012741",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                            "name": "prostate cancer, hereditary, 12",
                            "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene."
                        },
                        {
                            "id": "MONDO:0012741",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                            "name": "EHBP1 familial prostate cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012741",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                            "name": "familial prostate cancer caused by mutation in EHBP1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012741",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                            "name": "prostate cancer, hereditary, 12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012741",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                            "name": "prostate cancer, hereditary, type 12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012741",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                            "name": "HPC12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012244",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                            "name": "prostate cancer, hereditary, 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012244",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                            "name": "prostate cancer, hereditary, 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012244",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                            "name": "prostate cancer, hereditary, type 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012244",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                            "name": "HPC5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012093",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                            "name": "prostate cancer, hereditary, 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012093",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                            "name": "prostate cancer, hereditary, 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012093",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                            "name": "prostate cancer, hereditary, type 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012093",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                            "name": "prostate cancer, susceptibility to, 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012093",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                            "name": "HPC3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012094",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                            "name": "prostate cancer, hereditary, 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012094",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                            "name": "prostate cancer, hereditary, 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012094",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                            "name": "prostate cancer, hereditary, type 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012094",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                            "name": "prostate cancer, susceptibility to, 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012094",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                            "name": "HPC4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012094",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                            "name": "prostate cancer, hereditary, on chromosome 7",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012758",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                            "name": "prostate cancer, hereditary, 13",
                            "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene."
                        },
                        {
                            "id": "MONDO:0012758",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                            "name": "MSMB familial prostate cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012758",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                            "name": "familial prostate cancer caused by mutation in MSMB",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012758",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                            "name": "prostate cancer, hereditary, 13",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012758",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                            "name": "prostate cancer, hereditary, type 13",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012758",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                            "name": "HPC13",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011270",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                            "name": "prostate cancer, hereditary, 8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011270",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                            "name": "prostate cancer, hereditary, 8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011270",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                            "name": "prostate cancer, hereditary, type 8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011270",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                            "name": "HPC8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011270",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                            "name": "predisposing for prostate cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011270",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                            "name": "prostate cancer, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012300",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                            "name": "prostate cancer, hereditary, 6",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012300",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                            "name": "prostate cancer, hereditary, 6",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012300",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                            "name": "prostate cancer, hereditary, type 6",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012300",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                            "name": "HPC6",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012300",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                            "name": "prostate cancer, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012620",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                            "name": "prostate cancer, hereditary, 10",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012620",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                            "name": "HPC10",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012620",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                            "name": "prostate cancer, hereditary, 10",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "familial prostate carcinoma",
                            "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma."
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "familial prostate cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "hereditary prostate cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "hereditary prostate carcinoma",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "prostate cancer, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "prostate cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "prostate cancer, familial",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "prostate cancer, hereditary",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012470",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                            "name": "prostate cancer, hereditary, 7",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012470",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                            "name": "HPC7",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012470",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                            "name": "prostate cancer, hereditary, 7",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012470",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                            "name": "prostate cancer aggressiveness",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "prostate cancer, hereditary, 1",
                            "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene."
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "RNASEL familial prostate cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "familial prostate cancer caused by mutation in RNASEL",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "prostate cancer 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "prostate cancer, hereditary, 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "prostate cancer, hereditary, type 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "HPC1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "Prca1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012768",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                            "name": "prostate cancer, hereditary, 11",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012768",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                            "name": "HPC11",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012768",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                            "name": "prostate cancer, hereditary, 11",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012769",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                            "name": "prostate cancer, hereditary, 14",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012769",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                            "name": "HPC14",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012769",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                            "name": "prostate cancer, hereditary, 14",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012770",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                            "name": "prostate cancer, hereditary, 15",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012770",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                            "name": "HPC15",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012770",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                            "name": "prostate cancer, hereditary, 15",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010257",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                            "name": "prostate cancer, hereditary, X-linked 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010257",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                            "name": "HPCX1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010257",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                            "name": "prostate cancer, hereditary, X-linked 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010257",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                            "name": "prostate cancer susceptibility, X-linked",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010405",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010405",
                            "name": "prostate cancer, hereditary, X-linked 2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010405",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010405",
                            "name": "HPCX2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010405",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010405",
                            "name": "prostate cancer, hereditary, X-linked 2",
                            "description": ""
                        },
                        {
                            "id": "MIM:611868",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/611868",
                            "name": "Prostate cancer, hereditary, 12",
                            "description": "Prostate cancer, hereditary, 12"
                        },
                        {
                            "id": "MIM:611928",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/611928",
                            "name": "Prostate cancer, hereditary, 13",
                            "description": "Prostate cancer, hereditary, 13"
                        },
                        {
                            "id": "MIM:176807",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/176807",
                            "name": "Prostate cancer",
                            "description": "Prostate cancer"
                        },
                        {
                            "id": "MIM:601518",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/601518",
                            "name": "Prostate cancer, hereditary, 1",
                            "description": "Prostate cancer, hereditary, 1"
                        },
                        {
                            "id": "MIM:611955",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/611955",
                            "name": "Prostate cancer, hereditary, 11",
                            "description": "Prostate cancer, hereditary, 11"
                        }
                    ]
                }
            ]
        },
        {
            "significant": "No",
            "trend": "down",
            "name": "Stomach cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:10534",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O75503",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75503"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:10534",
                    "recommended_name": {
                        "id": "DOID:10534",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:10534",
                        "name": "stomach cancer",
                        "description": "A gastrointestinal system cancer that is located_in the stomach."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:10534",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10534",
                            "name": "gastric cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:10534",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10534",
                            "name": "gastric neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer",
                            "description": "A primary or metastatic malignant neoplasm involving the stomach."
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "Ca lesser curvature - stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "cancer of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer risk after h. pylori infection",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant gastric neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant gastric tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant gastric tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of lesser curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of the stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant stomach neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of body of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of greater curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of lesser curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of the stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of body of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of greater curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of lesser curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of the stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "stomach cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "Ca body - stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "ca greater curvature of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of body of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer, intestinal",
                            "description": ""
                        },
                        {
                            "id": "MIM:613659",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/613659",
                            "name": "Gastric cancer",
                            "description": "Gastric cancer"
                        }
                    ]
                }
            ]
        },
        {
            "significant": "No",
            "trend": "down",
            "name": "Urinary bladder cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:11054",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O75503",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75503"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:11054",
                    "recommended_name": {
                        "id": "DOID:11054",
                        "resource": "Disease Ontology",
                        "url": "http://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": "http://disease-ontology.org/term/DOID:11054",
                            "name": "bladder cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:11054",
                            "resource": "Disease Ontology",
                            "url": "http://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"
                        }
                    ]
                }
            ]
        },
        {
            "significant": "No",
            "trend": "down",
            "name": "Head and neck cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:11934",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O75503",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75503"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:11934",
                    "recommended_name": {
                        "id": "DOID:11934",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:11934",
                        "name": "head and neck cancer",
                        "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:11934",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11934",
                            "name": "head and neck neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:11934",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11934",
                            "name": "head and neck tumours",
                            "description": ""
                        },
                        {
                            "id": "DOID:11934",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11934",
                            "name": "head/neck neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:11934",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11934",
                            "name": "tumor of head and neck",
                            "description": ""
                        }
                    ]
                }
            ]
        },
        {
            "significant": "Yes",
            "trend": "down",
            "name": "Lung cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:1324",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O75503",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75503"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:1324",
                    "recommended_name": {
                        "id": "DOID:1324",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:1324",
                        "name": "lung cancer",
                        "description": "A respiratory system cancer that is located_in the lung."
                    },
                    "synonyms": [
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "lung cancer susceptibility 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "LNCR1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "lung cancer susceptibility",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "lung cancer susceptibility 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "lung cancer susceptibility 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "LNCR3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "lung cancer susceptibility 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "adenocarcinoma of lung, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012955",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                            "name": "lung cancer susceptibility 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012955",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                            "name": "LNCR4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012955",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                            "name": "lung cancer susceptibility 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013631",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                            "name": "lung cancer susceptibility 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013631",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                            "name": "LNCR5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013631",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                            "name": "lung cancer susceptibility 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer",
                            "description": "A malignant neoplasm involving the lung."
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "adenocarcinoma of lung, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "cancer of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, protection against, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant lung neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant lung tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant lung tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant neoplasm of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant neoplasm of the lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumor of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumor of the lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumour of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumour of the lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "nonsmall cell lung cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "Nonsmall cell lung cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "alveolar cell carcinoma",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, protection against",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MIM:211980",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/211980",
                            "name": "Lung cancer",
                            "description": "Lung cancer"
                        }
                    ]
                }
            ]
        },
        {
            "significant": "Yes",
            "trend": "down",
            "name": "Breast cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:1612",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O75503",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75503"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:1612",
                    "recommended_name": {
                        "id": "DOID:1612",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:1612",
                        "name": "breast cancer",
                        "description": "A thoracic cancer that originates in the mammary gland."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "breast tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "malignant neoplasm of breast",
                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "malignant tumor of the breast",
                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "mammary cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "mammary tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "primary breast cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "hereditary breast carcinoma",
                            "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, lobular, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, protection against, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "familial breast cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "familial breast carcinoma",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "familial cancer of breast",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "familial cancer of the breast",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "hereditary breast cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "hereditary breast carcinoma",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, familial",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, familial Male",
                            "description": ""
                        },
                        {
                            "id": "MIM:114480",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/114480",
                            "name": "Breast cancer",
                            "description": "Breast cancer"
                        }
                    ]
                }
            ]
        },
        {
            "significant": "Yes",
            "trend": "down",
            "name": "Thyroid cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:1781",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O75503",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75503"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:1781",
                    "recommended_name": {
                        "id": "DOID:1781",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:1781",
                        "name": "thyroid cancer",
                        "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "thyroid gland cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "Thyroid gland neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "malignant neoplasm of thyroid gland",
                            "description": ""
                        },
                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "malignant tumour of thyroid gland",
                            "description": ""
                        },
                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "neoplasm of thyroid gland",
                            "description": ""
                        },
                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "thyroid neoplasm",
                            "description": ""
                        }
                    ]
                }
            ]
        },
        {
            "significant": "Yes",
            "trend": "down",
            "name": "Kidney cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:263",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O75503",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75503"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:263",
                    "recommended_name": {
                        "id": "DOID:263",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:263",
                        "name": "kidney cancer",
                        "description": "A urinary system cancer that is located_in the kidney."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:263",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:263",
                            "name": "malignant neoplasm of kidney except pelvis",
                            "description": ""
                        },
                        {
                            "id": "DOID:263",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:263",
                            "name": "malignant tumour of kidney",
                            "description": ""
                        },
                        {
                            "id": "DOID:263",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:263",
                            "name": "renal cancer",
                            "description": ""
                        }
                    ]
                }
            ]
        },
        {
            "significant": "Yes",
            "trend": "down",
            "name": "Liver cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:3571",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O75503",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75503"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:3571",
                    "recommended_name": {
                        "id": "DOID:3571",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:3571",
                        "name": "liver cancer",
                        "description": "A hepatobiliary system cancer that is located_in the liver."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "Ca liver - primary",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "Resectable malignant neoplasm of Liver",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "hepatic cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "hepatic neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "malignant hepato-biliary neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "malignant neoplasm of liver",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "malignant neoplasm of liver, primary",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "malignant tumor of liver",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "neoplasm of liver",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "non-resectable primary hepatic malignant neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "primary liver cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "primary malignant neoplasm of liver",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "resectable malignant neoplasm of the liver",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "malignant neoplasm of liver, not specified as primary or secondary",
                            "description": ""
                        }
                    ]
                }
            ]
        },
        {
            "significant": "Yes",
            "trend": "down",
            "name": "Uterine cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:363",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O75503",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75503"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:363",
                    "recommended_name": {
                        "id": "DOID:363",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:363",
                        "name": "uterine cancer",
                        "description": "A female reproductive organ cancer that is located_in the uterus."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "CA - cancer of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "Tumour of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "malignant neoplasm of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "malignant uterine tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "neoplasm of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "uterine tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "uterus neoplasm",
                            "description": ""
                        }
                    ]
                }
            ]
        },
        {
            "significant": "Yes",
            "trend": "down",
            "name": "Esophageal cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:5041",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O75503",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75503"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:5041",
                    "recommended_name": {
                        "id": "DOID:5041",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:5041",
                        "name": "esophageal cancer",
                        "description": "A gastrointestinal system cancer that is located_in the esophagus."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "Ca lower third oesophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "Ca middle third oesophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "esophagus cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of distal third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of lower third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of middle third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of proximal third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of upper third esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant tumor of Distal Third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant tumor of Proximal Third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant tumor of abdominal esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://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",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "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": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
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                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
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                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
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                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
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                            "description": ""
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                            "url": "https://www.omim.org/entry/133239",
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                    ]
                }
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        },
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                        {
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                        {
                            "id": "MONDO:0005575",
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                            "description": ""
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                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0005575",
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                        {
                            "id": "MONDO:0005575",
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                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            "description": ""
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                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            "description": ""
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                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0005575",
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                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            "description": ""
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                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            "description": ""
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                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
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                            "id": "MONDO:0005575",
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                            "id": "MONDO:0005575",
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                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0005575",
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                        {
                            "id": "MONDO:0005575",
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                            "id": "MONDO:0005575",
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            "url": "https://www.uniprot.org/uniprot/A0A1B0GTV7",
            "database": "UniProtKB",
            "categories": [
                "Protein"
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        },
        {
            "id": "A0A1B0GTV7-1",
            "url": "https://www.uniprot.org/uniprot/A0A1B0GTV7-1",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "A0A1B0GU14",
            "url": "https://www.uniprot.org/uniprot/A0A1B0GU14",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "A0A1B0GU14-1",
            "url": "https://www.uniprot.org/uniprot/A0A1B0GU14-1",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "A0A1B0GUE8",
            "url": "https://www.uniprot.org/uniprot/A0A1B0GUE8",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "A0A1B0GUE8-1",
            "url": "https://www.uniprot.org/uniprot/A0A1B0GUE8-1",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "A0A1B0GV94",
            "url": "https://www.uniprot.org/uniprot/A0A1B0GV94",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "A0A1B0GV94-1",
            "url": "https://www.uniprot.org/uniprot/A0A1B0GV94-1",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "A0A1B0GVL0",
            "url": "https://www.uniprot.org/uniprot/A0A1B0GVL0",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "A0A1B0GVL0-1",
            "url": "https://www.uniprot.org/uniprot/A0A1B0GVL0-1",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "A0A1B0GWI2",
            "url": "https://www.uniprot.org/uniprot/A0A1B0GWI2",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "A0A1B0GWI2-1",
            "url": "https://www.uniprot.org/uniprot/A0A1B0GWI2-1",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "A0A1C7CYZ2",
            "url": "https://www.uniprot.org/uniprot/A0A1C7CYZ2",
            "database": "UniProtKB",
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                "Protein"
            ]
        },
        {
            "id": "A0A1C7CYZ2-1",
            "url": "https://www.uniprot.org/uniprot/A0A1C7CYZ2-1",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "O75503",
            "url": "https://www.uniprot.org/uniprot/O75503",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "O75503-1",
            "url": "https://www.uniprot.org/uniprot/O75503-1",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        }
    ],
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        "sequence": "MAQEVDTAQGAEMRRGAGAARGRASWCWALALLWLAVVPGWSRVSGIPSRRHWPVPYKRFDFRPKPDPYCQAKYTFCPTGSPIPVMEGDDDIEVFRLQAPVWEFKYGDLLGHLKIMHDAIGFRSTLTGKNYTMEWYELFQLGNCTFPHLRPEMDAPFWCNQGAACFFEGIDDVHWKENGTLVQVATISGNMFNQMAKWVKQDNETGIYYETWNVKASPEKGAETWFDSYDCSKFVLRTFNKLAEFGAEFKNIETNYTRIFLYSGEPTYLGNETSVFGPTGNKTLGLAIKRFYYPFKPHLPTKEFLLSLLQIFDAVIVHKQFYLFYNFEYWFLPMKFPFIKITYEEIPLPIRNKTLSGL",
        "length": 358,
        "header": "sp|O75503-1|CLN5_HUMAN Isoform 1 of Ceroid-lipofuscinosis neuronal protein 5  OS=Homo sapiens OX=9606 GN=CLN5 PE=1 SV=2 CANONICAL=O75503-1"
    },
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        {
            "isoform_ac": "A0A087WZY0-1",
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            "sequence": {
                "sequence": "MAQEVDTAQGAEMRRGAGAARGRASWCWALALLWLAVVPGWSRVSGIPSRRHWPVPYKRFDFRPKPDPYCQAKYTFCPTGSPIPVMEGDDDIEVFRLQAPVWEFKYGDLLGHLKIMHDAIGFRSTLTGKNYTMEWYELFQLGNCTFPHLRPEMDAPFWCNQGAACFFEGIDDVHWKENGTLVQVATISGKL",
                "length": 191,
                "header": "tr|A0A087WZY0-1|CLN5_HUMAN Computationally mapped isoform of Ceroid-lipofuscinosis neuronal protein 5  OS=Homo sapiens OX=9606 GN=CLN5 PE=1 SV=3 CANONICAL=O75503-1"
            },
            "locus": {
                "chromosome": "13",
                "start_pos": 76996135,
                "end_pos": 76992099,
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                "evidence": [
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                        "database": "Ensembl Transcript",
                        "id": "ENST00000485938.4",
                        "url": "https://www.ensembl.org/id/ENST00000485938.4"
                    },
                    {
                        "database": "Ensembl Peptide",
                        "id": "ENSP00000482959.3",
                        "url": "https://www.ensembl.org/id/ENSP00000482959.3"
                    }
                ]
            }
        },
        {
            "isoform_ac": "A0A1B0GTR6-1",
            "url": "",
            "sequence": {
                "sequence": "MAQEVDTAQGAEMRRGAGAARGRASWCWALALLWLAVVPGWSRVSGIPSRRHWPVPYKRFDFRPKPDPYCQAKYTFCPTGSPIPVMEGDDDIEVFRLQAPVWEFKYGDLLGHLKIMHDAIGFRSTLTGKNYTMEWYELFQLGNCTFPHLRPEMDAPFWCNQGAACFFEGIDDVHWKENGTLVQVATISDGETEAQRG",
                "length": 197,
                "header": "tr|A0A1B0GTR6-1|CLN5_HUMAN Computationally mapped isoform of Ceroid-lipofuscinosis neuronal protein 5  OS=Homo sapiens OX=9606 GN=CLN5 PE=1 SV=2 CANONICAL=O75503-1"
            },
            "locus": {
                "chromosome": "13",
                "start_pos": 76998068,
                "end_pos": 76992099,
                "strand": "-",
                "evidence": [
                    {
                        "database": "Ensembl Transcript",
                        "id": "ENST00000637537.2",
                        "url": "https://www.ensembl.org/id/ENST00000637537.2"
                    },
                    {
                        "database": "Ensembl Peptide",
                        "id": "ENSP00000489711.2",
                        "url": "https://www.ensembl.org/id/ENSP00000489711.2"
                    }
                ]
            }
        },
        {
            "isoform_ac": "A0A1B0GTV7-1",
            "url": "",
            "sequence": {
                "sequence": "MAQEVDTAQGAEMRRGAGAARGRASWCWALALLWLAVVPGWSRVSGIPSRRHWPVPYKRFDFRPKPDPYCQAKYTFCPTGSPIPVMEGDDDIEVFRLQAPVWEFKYGDLLGHLKIMHDAIGFRSTLTGKNYTMEWYELFQLGNCTFPHLRPEMDAPFWCNQGAACFFEGIDDVHWKENGTLVQVATISGFHHVGQDSIELRTSSDPPILASQSAGITDVSHCTRPTIRILPQRGTLYYLRWVLLCCPG",
                "length": 248,
                "header": "tr|A0A1B0GTV7-1|CLN5_HUMAN Computationally mapped isoform of Ceroid-lipofuscinosis neuronal protein 5  OS=Homo sapiens OX=9606 GN=CLN5 PE=1 SV=2 CANONICAL=O75503-1"
            },
            "locus": {
                "chromosome": "13",
                "start_pos": 77016743,
                "end_pos": 76992099,
                "strand": "-",
                "evidence": [
                    {
                        "database": "Ensembl Transcript",
                        "id": "ENST00000636767.2",
                        "url": "https://www.ensembl.org/id/ENST00000636767.2"
                    },
                    {
                        "database": "Ensembl Peptide",
                        "id": "ENSP00000489855.2",
                        "url": "https://www.ensembl.org/id/ENSP00000489855.2"
                    }
                ]
            }
        },
        {
            "isoform_ac": "A0A1B0GU14-1",
            "url": "",
            "sequence": {
                "sequence": "MEGDDDIEVFRLQAPVWEFKYGDLLGHLLLYLAPGR",
                "length": 36,
                "header": "tr|A0A1B0GU14-1|CLN5_HUMAN Computationally mapped isoform of Ceroid-lipofuscinosis neuronal protein 5  OS=Homo sapiens OX=9606 GN=CLN5 PE=1 SV=1 CANONICAL=O75503-1"
            },
            "locus": {
                "chromosome": "13",
                "start_pos": 76995480,
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                "strand": "-",
                "evidence": [
                    {
                        "database": "Ensembl Transcript",
                        "id": "ENST00000636681.1",
                        "url": "https://www.ensembl.org/id/ENST00000636681.1"
                    },
                    {
                        "database": "Ensembl Peptide",
                        "id": "ENSP00000489922.1",
                        "url": "https://www.ensembl.org/id/ENSP00000489922.1"
                    }
                ]
            }
        },
        {
            "isoform_ac": "A0A1B0GUE8-1",
            "url": "",
            "sequence": {
                "sequence": "MAQEVDTAQGAEMRRGAGAARGRASWCWALALLWLAVVPGWSRVSGIPSRRHWPVPYKRFDFRPKPDPYCQAKYTFCPTGSPIPVMEGDDDIEVFRLQAPVWEFKYGDLLGHLKIMHDAIGFRSTLTGKNYTMEWYELFQLGNCTFPHLRPEMDAPFWCNQGAACFFEGIDDVHWKENGTLVQVATISGFHHVGQDSIELRTSSDPPILASQSAGITDVSHCTRPTIRILPQRGTLYYLLWTKTFLLCSLQFSWDFQNIATPYFNLLPKP",
                "length": 270,
                "header": "tr|A0A1B0GUE8-1|CLN5_HUMAN Computationally mapped isoform of Ceroid-lipofuscinosis neuronal protein 5  OS=Homo sapiens OX=9606 GN=CLN5 PE=1 SV=2 CANONICAL=O75503-1"
            },
            "locus": {
                "chromosome": "13",
                "start_pos": 77017142,
                "end_pos": 76992099,
                "strand": "-",
                "evidence": [
                    {
                        "database": "Ensembl Transcript",
                        "id": "ENST00000636525.2",
                        "url": "https://www.ensembl.org/id/ENST00000636525.2"
                    },
                    {
                        "database": "Ensembl Peptide",
                        "id": "ENSP00000490078.2",
                        "url": "https://www.ensembl.org/id/ENSP00000490078.2"
                    }
                ]
            }
        },
        {
            "isoform_ac": "A0A1B0GV94-1",
            "url": "",
            "sequence": {
                "sequence": "MAQEVDTAQGAEMRRGAGAARGRASWCWALALLWLAVVPGWSRVSGIPSRRHWPVPYKRFDFRPKPDPYCQAKYTFCPTGSPIPVMEGDDDIEVFRLQAPVWEFKYGDLLGHLKIMHDAIGFRSTLTGKNYTMEWYELFQLGNCTFPHLRPEMDAPFWCNQGAACFFEGIDDVHWKENGTLVQVATISGFHHVGQDSIELRTSSDPPILASQSAGITDVSHCTRPTIRILPQRGTLYYLSLALLPGWSTVVRPRLTATSASRIQTIFLPQPPK",
                "length": 273,
                "header": "tr|A0A1B0GV94-1|CLN5_HUMAN Computationally mapped isoform of Ceroid-lipofuscinosis neuronal protein 5  OS=Homo sapiens OX=9606 GN=CLN5 PE=1 SV=2 CANONICAL=O75503-1"
            },
            "locus": {
                "chromosome": "13",
                "start_pos": 77012902,
                "end_pos": 76992099,
                "strand": "-",
                "evidence": [
                    {
                        "database": "Ensembl Transcript",
                        "id": "ENST00000637397.2",
                        "url": "https://www.ensembl.org/id/ENST00000637397.2"
                    },
                    {
                        "database": "Ensembl Peptide",
                        "id": "ENSP00000490422.2",
                        "url": "https://www.ensembl.org/id/ENSP00000490422.2"
                    }
                ]
            }
        },
        {
            "isoform_ac": "A0A1B0GVL0-1",
            "url": "",
            "sequence": {
                "sequence": "XGRASWCWALALLWLAVVPGWSRVSGIPSRRHWPVPYKRFDFRPKPDPYCQAKYTFCPTGSPIPVMEGDDDIEVFRLQAPVWEFKYGDLLGHLVTWTHGCVTVAFIHVLSLHRKLCMMPLDSEVH",
                "length": 125,
                "header": "tr|A0A1B0GVL0-1|CLN5_HUMAN Computationally mapped isoform of Ceroid-lipofuscinosis neuronal protein 5  OS=Homo sapiens OX=9606 GN=CLN5 PE=1 SV=1 CANONICAL=O75503-1"
            },
            "locus": {
                "chromosome": "13",
                "start_pos": 76995939,
                "end_pos": 76992160,
                "strand": "-",
                "evidence": [
                    {
                        "database": "Ensembl Transcript",
                        "id": "ENST00000635915.1",
                        "url": "https://www.ensembl.org/id/ENST00000635915.1"
                    },
                    {
                        "database": "Ensembl Peptide",
                        "id": "ENSP00000490560.1",
                        "url": "https://www.ensembl.org/id/ENSP00000490560.1"
                    }
                ]
            }
        },
        {
            "isoform_ac": "A0A1B0GWI2-1",
            "url": "",
            "sequence": {
                "sequence": "XGYKRFDFRPKPDPYCQAKYTFCPTGSPIPVMEGDDDIEVFRLQAPVWEFKYGDLLGHLKIMHDAIGFRSTLTGKNYTMEWYELFQLGNCTFPHLRPEMDAPFWCNQGAACFFEGIDDVHWKENGTLVQVATISGNMFNQMAKWVKQDNETGIYYETWNVKASPEKGAETWFDSYDCSKFVLRTFNKLAEFGAEFKNIETNYTRIFLYSGEPTYLGNETSVFGPTGNKTLGLAIKRFYYPFKPHLPTKEFLLSLLQIFDAVIVHKQFYLFYNFEYWFLPMKFPFIKITYEEIPLPIRNKTLSGL",
                "length": 304,
                "header": "tr|A0A1B0GWI2-1|A0A1B0GWI2_HUMAN Computationally mapped isoform of CLN5 intracellular trafficking protein  OS=Homo sapiens OX=9606 GN=CLN5 PE=1 SV=1 CANONICAL=O75503-1"
            },
            "locus": {
                "chromosome": "13",
                "start_pos": 77000968,
                "end_pos": 76992573,
                "strand": "-",
                "evidence": [
                    {
                        "database": "Ensembl Transcript",
                        "id": "ENST00000636705.1",
                        "url": "https://www.ensembl.org/id/ENST00000636705.1"
                    },
                    {
                        "database": "Ensembl Peptide",
                        "id": "ENSP00000490937.1",
                        "url": "https://www.ensembl.org/id/ENSP00000490937.1"
                    }
                ]
            }
        },
        {
            "isoform_ac": "A0A1C7CYZ2-1",
            "url": "",
            "sequence": {
                "sequence": "MAQEVDTAQGAEMRRGAGAARGRASWCWALALLWLAVVPGWSRVSGIPSRRHWPVPYKRFDFRPKPDPYCQAKYTFCPTGSPIPVMEGDDDIEVFRLQAPVWEFKYGDLLGHLKIMHDAIGFRSTLTGKNYTMEWYELFQLGNCTFPHLRPEMDAPFWCNQGAACFFEGIDDVHWKENGTLVQVATISEISCALKNGIKLAELGFLL",
                "length": 207,
                "header": "tr|A0A1C7CYZ2-1|CLN5_HUMAN Computationally mapped isoform of Ceroid-lipofuscinosis neuronal protein 5  OS=Homo sapiens OX=9606 GN=CLN5 PE=1 SV=2 CANONICAL=O75503-1"
            },
            "locus": {
                "chromosome": "13",
                "start_pos": 76999985,
                "end_pos": 76992099,
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                "evidence": [
                    {
                        "database": "Ensembl Transcript",
                        "id": "ENST00000616833.6",
                        "url": "https://www.ensembl.org/id/ENST00000616833.6"
                    },
                    {
                        "database": "Ensembl Peptide",
                        "id": "ENSP00000479547.3",
                        "url": "https://www.ensembl.org/id/ENSP00000479547.3"
                    }
                ]
            }
        },
        {
            "isoform_ac": "O75503-1",
            "url": "",
            "sequence": {
                "sequence": "MAQEVDTAQGAEMRRGAGAARGRASWCWALALLWLAVVPGWSRVSGIPSRRHWPVPYKRFDFRPKPDPYCQAKYTFCPTGSPIPVMEGDDDIEVFRLQAPVWEFKYGDLLGHLKIMHDAIGFRSTLTGKNYTMEWYELFQLGNCTFPHLRPEMDAPFWCNQGAACFFEGIDDVHWKENGTLVQVATISGNMFNQMAKWVKQDNETGIYYETWNVKASPEKGAETWFDSYDCSKFVLRTFNKLAEFGAEFKNIETNYTRIFLYSGEPTYLGNETSVFGPTGNKTLGLAIKRFYYPFKPHLPTKEFLLSLLQIFDAVIVHKQFYLFYNFEYWFLPMKFPFIKITYEEIPLPIRNKTLSGL",
                "length": 358,
                "header": "sp|O75503-1|CLN5_HUMAN Isoform 1 of Ceroid-lipofuscinosis neuronal protein 5  OS=Homo sapiens OX=9606 GN=CLN5 PE=1 SV=2 CANONICAL=O75503-1"
            },
            "locus": {
                "chromosome": "13",
                "start_pos": 77000966,
                "end_pos": 76992099,
                "strand": "-",
                "evidence": [
                    {
                        "database": "Ensembl Transcript",
                        "id": "ENST00000377453.9",
                        "url": "https://www.ensembl.org/id/ENST00000377453.9"
                    },
                    {
                        "database": "Ensembl Peptide",
                        "id": "ENSP00000366673.5",
                        "url": "https://www.ensembl.org/id/ENSP00000366673.5"
                    }
                ]
            }
        }
    ],
    "glycosylation": [
        {
            "glytoucan_ac": "",
            "type": "N-linked",
            "subtype": "",
            "site_category": "reported",
            "site_seq": "N",
            "relation": "attached",
            "comment": "N-linked (GlcNAc...) asparagine",
            "start_pos": 130,
            "start_aa": "Asn",
            "end_pos": 130,
            "end_aa": "Asn",
            "residue": "Asn",
            "site_lbl": "Asn130",
            "evidence": [
                {
                    "id": "O75503",
                    "database": "UniProtKB",
                    "url": "https://www.uniprot.org/uniprot/O75503#ptm_processing"
                },
                {
                    "id": "24058541",
                    "database": "PubMed",
                    "url": "https://glygen.org/publication/PubMed/24058541"
                }
            ]
        },
        {
            "glytoucan_ac": "",
            "type": "N-linked",
            "subtype": "",
            "site_category": "reported",
            "site_seq": "N",
            "relation": "attached",
            "comment": "N-linked (GlcNAc...) asparagine",
            "start_pos": 143,
            "start_aa": "Asn",
            "end_pos": 143,
            "end_aa": "Asn",
            "residue": "Asn",
            "site_lbl": "Asn143",
            "evidence": [
                {
                    "id": "O75503",
                    "database": "UniProtKB",
                    "url": "https://www.uniprot.org/uniprot/O75503#ptm_processing"
                },
                {
                    "id": "24058541",
                    "database": "PubMed",
                    "url": "https://glygen.org/publication/PubMed/24058541"
                }
            ]
        },
        {
            "glytoucan_ac": "G05724UK",
            "type": "N-linked",
            "subtype": "",
            "site_category": "reported_with_glycan",
            "site_seq": "N",
            "relation": "attached",
            "comment": "",
            "start_pos": 178,
            "start_aa": "Asn",
            "end_pos": 178,
            "end_aa": "Asn",
            "residue": "Asn",
            "site_lbl": "Asn178",
            "evidence": [
                {
                    "id": "1108",
                    "database": "GlyConnect",
                    "url": "https://glyconnect.expasy.org/browser/proteins/1108"
                },
                {
                    "id": "29741879",
                    "database": "PubMed",
                    "url": "https://glygen.org/publication/PubMed/29741879"
                }
            ]
        },
        {
            "glytoucan_ac": "",
            "type": "N-linked",
            "subtype": "",
            "site_category": "reported",
            "site_seq": "N",
            "relation": "attached",
            "comment": "N-linked (GlcNAc...) asparagine",
            "start_pos": 178,
            "start_aa": "Asn",
            "end_pos": 178,
            "end_aa": "Asn",
            "residue": "Asn",
            "site_lbl": "Asn178",
            "evidence": [
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                    "id": "O75503",
                    "database": "UniProtKB",
                    "url": "https://www.uniprot.org/uniprot/O75503#ptm_processing"
                },
                {
                    "id": "24058541",
                    "database": "PubMed",
                    "url": "https://glygen.org/publication/PubMed/24058541"
                },
                {
                    "id": "24190977",
                    "database": "PubMed",
                    "url": "https://glygen.org/publication/PubMed/24190977"
                },
                {
                    "id": "GLY_000143",
                    "database": "GlyGen",
                    "url": "https://data.glygen.org/GLY_000143"
                }
            ]
        },
        {
            "glytoucan_ac": "G20210JR",
            "type": "N-linked",
            "subtype": "",
            "site_category": "reported_with_glycan",
            "site_seq": "N",
            "relation": "attached",
            "comment": "",
            "start_pos": 203,
            "start_aa": "Asn",
            "end_pos": 203,
            "end_aa": "Asn",
            "residue": "Asn",
            "site_lbl": "Asn203",
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                {
                    "id": "1108",
                    "database": "GlyConnect",
                    "url": "https://glyconnect.expasy.org/browser/proteins/1108"
                },
                {
                    "id": "29741879",
                    "database": "PubMed",
                    "url": "https://glygen.org/publication/PubMed/29741879"
                }
            ]
        },
        {
            "glytoucan_ac": "G50372IH",
            "type": "N-linked",
            "subtype": "",
            "site_category": "reported_with_glycan",
            "site_seq": "N",
            "relation": "attached",
            "comment": "",
            "start_pos": 203,
            "start_aa": "Asn",
            "end_pos": 203,
            "end_aa": "Asn",
            "residue": "Asn",
            "site_lbl": "Asn203",
            "evidence": [
                {
                    "id": "O75503",
                    "database": "UniCarbKB",
                    "url": ""
                },
                {
                    "id": "29741879",
                    "database": "PubMed",
                    "url": "https://glygen.org/publication/PubMed/29741879"
                }
            ]
        },
        {
            "glytoucan_ac": "G64527OM",
            "type": "N-linked",
            "subtype": "",
            "site_category": "reported_with_glycan",
            "site_seq": "N",
            "relation": "attached",
            "comment": "",
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                    "database": "GlyGen",
                    "id": "GLY_000143",
                    "url": "https://data.glygen.org/GLY_000143"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "24190977",
                    "url": "https://glygen.org/publication/PubMed/24190977"
                }
            ]
        },
        {
            "title": "Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.",
            "journal": "Experimental cell research",
            "date": "2015",
            "authors": "De Silva B, Adams J, Lee SY",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "O75503",
                    "url": "https://www.uniprot.org/uniprot/O75503"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "26342652",
                    "url": "https://glygen.org/publication/PubMed/26342652"
                }
            ]
        },
        {
            "title": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.",
            "journal": "Analytical chemistry",
            "date": "2018",
            "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H",
            "evidence": [
                {
                    "database": "UniCarbKB",
                    "id": "O75503",
                    "url": ""
                },
                {
                    "database": "GlyConnect",
                    "id": "1108",
                    "url": "https://glyconnect.expasy.org/browser/proteins/1108"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "29741879",
                    "url": "https://glygen.org/publication/PubMed/29741879"
                }
            ]
        },
        {
            "title": "Quantitative Longitudinal Inventory of the N-Glycoproteome of Human Milk from a Single Donor Reveals the Highly Variable Repertoire and Dynamic Site-Specific Changes.",
            "journal": "Journal of proteome research",
            "date": "2020",
            "authors": "Zhu J, Lin YH, Dingess KA, Mank M, Stahl B, Heck AJR",
            "evidence": [
                {
                    "database": "GlyConnect",
                    "id": "1108",
                    "url": "https://glyconnect.expasy.org/browser/proteins/1108"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "32125861",
                    "url": "https://glygen.org/publication/PubMed/32125861"
                }
            ]
        },
        {
            "title": "Deficiency of the Lysosomal Protein CLN5 Alters Lysosomal Function and Movement.",
            "journal": "Biomolecules",
            "date": "2021",
            "authors": "Basak I, Hansen RA, Ward ME, Hughes SM",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_006484",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006484"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "34680045",
                    "url": "https://glygen.org/publication/PubMed/34680045"
                }
            ]
        },
        {
            "title": "Spatiotemporal Activation of Protein O-GlcNAcylation in Living Cells.",
            "journal": "Journal of the American Chemical Society",
            "date": "2022",
            "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W",
            "evidence": [
                {
                    "database": "O-GlcNAc Database",
                    "id": "O75503",
                    "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75503"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "35138101",
                    "url": "https://glygen.org/publication/PubMed/35138101"
                }
            ]
        },
        {
            "title": "Cln5 represents a new type of cysteine-based S-depalmitoylase linked to neurodegeneration.",
            "journal": "Science advances",
            "date": "2022",
            "authors": "Luebben AV, Bender D, Becker S, Crowther LM, Erven I, Hofmann K, Soding J, Klemp H, Bellotti C, Stauble A, Qiu T, Kathayat RS, Dickinson BC, Gartner J, Sheldrick GM, Kratzner R, Steinfeld R",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_006484",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006484"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "35427157",
                    "url": "https://glygen.org/publication/PubMed/35427157"
                }
            ]
        },
        {
            "title": "Lysosomal dysfunction, autophagic defects, and CLN5 accumulation underlie the pathogenesis of KCTD7-mutated neuronal ceroid lipofuscinoses.",
            "journal": "Autophagy",
            "date": "2022-11-11",
            "authors": "Wang Yalan, Wang Hongyan, Wang Chenji",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_006484",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006484"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "36368077",
                    "url": "https://glygen.org/publication/PubMed/36368077"
                }
            ]
        },
        {
            "title": "The Batten disease gene product CLN5 is the lysosomal bis(monoacylglycero)phosphate synthase.",
            "journal": "Science (New York, N.Y.)",
            "date": "2023-09-15",
            "authors": "Medoh Uche N, Hims Andy, Chen Julie Y, Ghoochani Ali, Nyame Kwamina, Dong Wentao, Abu-Remaileh Monther",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_006484",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006484"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "37708259",
                    "url": "https://glygen.org/publication/PubMed/37708259"
                }
            ]
        },
        {
            "title": "CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.",
            "journal": "Nature genetics",
            "date": "1998",
            "authors": "Savukoski M, Klockars T, Holmberg V, Santavuori P, Lander ES, Peltonen L",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "O75503",
                    "url": "https://www.uniprot.org/uniprot/O75503"
                },
                {
                    "database": "dbSNP",
                    "id": "rs28940280",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28940280"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "9662406",
                    "url": "https://glygen.org/publication/PubMed/9662406"
                }
            ]
        }
    ],
    "pathway": [
        {
            "id": "hsa:1203",
            "name": "",
            "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1203",
            "resource": "KEGG Pathway"
        }
    ],
    "orthologs": [
        {
            "uniprot_canonical_ac": "A0A1W2Q672-1",
            "protein_name": "CLN5, intracellular trafficking protein",
            "gene_name": "Cln5",
            "tax_id": 10116,
            "organism": "Rattus norvegicus",
            "sequence": {
                "sequence": "MPRVGPGGAHWRPALALALLGLAATLGASPTSGQRWPVPYKRFSFRPKTDPFCQAKYTFCPTGSPIPVMKDNDVIEVLRLQAPVWEFKYGDLLGHFVRMHLDLKIMHDAIGFRSTLTGKNYTVEWYELFQLGNCTFPHLRPEVNAPFWCNQGAACFFEGIYDKHWKENGTLSLVATVSGNTFNKVAEWVKQDNETGIYYETWTVRASPGKGAQTWFESYDCSNFVLRTYEKLAEFGTDFKKIETNYTKIFLYSGEPIYLGNETSIFGPKGNKTLALAIKKFYGPFKRYSSTKDFLLNFLKIFDTVIMHREFYLFYNFEYWFLPMKPPFVKITYEETPLPTQHTTFTDL",
                "length": 348
            },
            "evidence": [
                {
                    "id": "O75503",
                    "url": "https://omabrowser.org/oma/group/O75503/",
                    "database": "OMA"
                }
            ],
            "common_name": "Rat"
        },
        {
            "uniprot_canonical_ac": "Q3UMW8-1",
            "protein_name": "Ceroid-lipofuscinosis neuronal protein 5 homolog",
            "gene_name": "Cln5",
            "tax_id": 10090,
            "organism": "Mus musculus",
            "sequence": {
                "sequence": "MLRGGPCGAHWRPALALALLGLATILGASPTSGQRWPVPYKRFSFRPKTDPYCQAKYTFCPTGSPIPVMKDNDVIEVLRLQAPIWEFKYGDLLGHFKLMHDAVGFRSTLTGKNYTIEWYELFQLGNCTFPHLRPDKSAPFWCNQGAACFFEGIDDKHWKENGTLSVVATISGNTFNKVAEWVKQDNETGIYYETWTVRAGPGQGAQTWFESYDCSNFVLRTYKKLAEFGTEFKKIETNYTKIFLYSGEPIYLGNETSIFGPKGNKTLALAIKKFYGPFRPYLSTKDFLMNFLKIFDTVIIHRQFYLFYNFEYWFLPMKPPFVKITYEETPLPTRHTTFTDL",
                "length": 341
            },
            "evidence": [
                {
                    "id": "45920736",
                    "url": "http://www.informatics.jax.org/homology/45920736",
                    "database": "MGI"
                },
                {
                    "id": "O75503",
                    "url": "https://omabrowser.org/oma/group/O75503/",
                    "database": "OMA"
                }
            ],
            "common_name": "Mouse"
        }
    ],
    "go_annotation": {
        "categories": [
            {
                "name": "Cellular Component",
                "total": 9,
                "go_terms": [
                    {
                        "name": "membrane",
                        "id": "GO:0016020",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O75503",
                                "url": "https://www.uniprot.org/uniprot/O75503"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "lysosome",
                        "id": "GO:0005764",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O75503",
                                "url": "https://www.uniprot.org/uniprot/O75503"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "endoplasmic reticulum",
                        "id": "GO:0005783",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O75503",
                                "url": "https://www.uniprot.org/uniprot/O75503"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "Golgi apparatus",
                        "id": "GO:0005794",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O75503",
                                "url": "https://www.uniprot.org/uniprot/O75503"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "cytosol",
                        "id": "GO:0005829",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O75503",
                                "url": "https://www.uniprot.org/uniprot/O75503"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "perinuclear region of cytoplasm",
                        "id": "GO:0048471",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O75503",
                                "url": "https://www.uniprot.org/uniprot/O75503"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "extracellular exosome",
                        "id": "GO:0070062",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O75503",
                                "url": "https://www.uniprot.org/uniprot/O75503"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "lysosomal membrane",
                        "id": "GO:0005765",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O75503",
                                "url": "https://www.uniprot.org/uniprot/O75503"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "vacuolar lumen",
                        "id": "GO:0005775",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005775",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O75503",
                                "url": "https://www.uniprot.org/uniprot/O75503"
                            }
                        ],
                        "pmid": ""
                    }
                ]
            },
            {
                "name": "Biological Process",
                "total": 11,
                "go_terms": [
                    {
                        "name": "brain development",
                        "id": "GO:0007420",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O75503",
                                "url": "https://www.uniprot.org/uniprot/O75503"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "visual perception",
                        "id": "GO:0007601",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O75503",
                                "url": "https://www.uniprot.org/uniprot/O75503"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "lysosome organization",
                        "id": "GO:0007040",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007040",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O75503",
                                "url": "https://www.uniprot.org/uniprot/O75503"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "retrograde transport, endosome to Golgi",
                        "id": "GO:0042147",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042147",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O75503",
                                "url": "https://www.uniprot.org/uniprot/O75503"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "protein catabolic process",
                        "id": "GO:0030163",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O75503",
                                "url": "https://www.uniprot.org/uniprot/O75503"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "neurogenesis",
                        "id": "GO:0022008",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O75503",
                                "url": "https://www.uniprot.org/uniprot/O75503"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "lysosomal lumen acidification",
                        "id": "GO:0007042",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007042",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O75503",
                                "url": "https://www.uniprot.org/uniprot/O75503"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "neuron maturation",
                        "id": "GO:0042551",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042551",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O75503",
                                "url": "https://www.uniprot.org/uniprot/O75503"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "signal peptide processing",
                        "id": "GO:0006465",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006465",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O75503",
                                "url": "https://www.uniprot.org/uniprot/O75503"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "glycosylation",
                        "id": "GO:0070085",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070085",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O75503",
                                "url": "https://www.uniprot.org/uniprot/O75503"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "positive regulation of GTP binding",
                        "id": "GO:1904426",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904426",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O75503",
                                "url": "https://www.uniprot.org/uniprot/O75503"
                            }
                        ],
                        "pmid": ""
                    }
                ]
            },
            {
                "name": "Molecular Function",
                "total": 2,
                "go_terms": [
                    {
                        "name": "mannose binding",
                        "id": "GO:0005537",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005537",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O75503",
                                "url": "https://www.uniprot.org/uniprot/O75503"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "hydrolase activity, acting on glycosyl bonds",
                        "id": "GO:0016798",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016798",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O75503",
                                "url": "https://www.uniprot.org/uniprot/O75503"
                            }
                        ],
                        "pmid": ""
                    }
                ]
            }
        ]
    },
    "pro_annotation": [
        {
            "name": "ceroid-lipofuscinosis neuronal protein 5 N-glycosylated 1 (human)",
            "definition": "A ceroid-lipofuscinosis neuronal protein 5 (human) that has been N-glycosylated at the residue equivalent to Asn-203 of the amino acid sequence represented by UniProtKB:O75503-1, in which the glycan composition is represented by GlyTouCan:G50372IH. Example: UniProtKB:O75503-1, Asn-203, MOD:00160~GNO:G50372IH. [PRO:DNx, PMID:29741879]",
            "evidence": [
                {
                    "id": "PR:000050839",
                    "database": "PRO",
                    "url": "https://proconsortium.org/app/entry/PR:000050839"
                }
            ]
        }
    ],
    "site_annotation": [
        {
            "start_pos": 130,
            "end_pos": 132,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 143,
            "end_pos": 145,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 178,
            "end_pos": 180,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 203,
            "end_pos": 205,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 255,
            "end_pos": 257,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 271,
            "end_pos": 273,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 281,
            "end_pos": 283,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 352,
            "end_pos": 354,
            "annotation": "n_glycosylation_sequon"
        }
    ],
    "ptm_annotation": [
        {
            "annotation": "Can undergo proteolytic cleavage at the C-terminus, probably by a cysteine protease and may involve the removal of approximately 10-15 residues from the C-terminal end (PubMed:26342652).",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "O75503",
                    "url": "https://www.uniprot.org/uniprot/O75503"
                },
                {
                    "database": "PubMed",
                    "id": "26342652",
                    "url": "https://glygen.org/publication/PubMed/26342652"
                }
            ]
        },
        {
            "annotation": "N-glycosylated with both high mannose and complex type sugars. Glycosylation is important for proper folding and trafficking to the lysosomes.",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "O75503",
                    "url": "https://www.uniprot.org/uniprot/O75503"
                },
                {
                    "database": "PubMed",
                    "id": "24058541",
                    "url": "https://glygen.org/publication/PubMed/24058541"
                },
                {
                    "database": "PubMed",
                    "id": "20052765",
                    "url": "https://glygen.org/publication/PubMed/20052765"
                },
                {
                    "database": "PubMed",
                    "id": "24038957",
                    "url": "https://glygen.org/publication/PubMed/24038957"
                },
                {
                    "database": "PubMed",
                    "id": "11971870",
                    "url": "https://glygen.org/publication/PubMed/11971870"
                }
            ]
        },
        {
            "annotation": "The type II membrane signal anchor is proteolytically cleaved to produce a mature form that is transported to the lysosomes (Ceroid-lipofuscinosis neuronal protein 5, secreted form) (PubMed:24038957, PubMed:20052765).",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "O75503",
                    "url": "https://www.uniprot.org/uniprot/O75503"
                },
                {
                    "database": "PubMed",
                    "id": "20052765",
                    "url": "https://glygen.org/publication/PubMed/20052765"
                },
                {
                    "database": "PubMed",
                    "id": "24038957",
                    "url": "https://glygen.org/publication/PubMed/24038957"
                }
            ]
        }
    ],
    "interactions": [],
    "reactions": [],
    "reaction_participants": [],
    "reaction_enzymes": [],
    "biomarkers": [],
    "synthesized_glycans": [],
    "cluster_types": [
        {
            "name": "isoformset.uniprotkb",
            "label": "Isoforms"
        },
        {
            "name": "homologset.oma",
            "label": "OMA Homologs"
        },
        {
            "name": "homologset.mgi",
            "label": "MGI Homologs"
        }
    ],
    "sequence_features": {
        "n_linked_sites": [
            130,
            143,
            178,
            203,
            255,
            271,
            281,
            352
        ],
        "o_linked_sites": [],
        "snv_sites": [
            132,
            143,
            145,
            178,
            230,
            255,
            271,
            283
        ],
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