[
    {
        "title": "Genotypes at 11beta-hydroxysteroid dehydrogenase type 11B1 and hexose-6-phosphate dehydrogenase loci are not risk factors for apparent cortisone reductase deficiency in a large population-based sample.",
        "journal": "The Journal of clinical endocrinology and metabolism",
        "date": "2005-10",
        "authors": "White Perrin C",
        "reference": {
            "type": "PubMed",
            "id": "16091483",
            "url": "https://pubmed.ncbi.nlm.nih.gov/16091483"
        },
        "referenced_glycans": [],
        "referenced_proteins": [
            {
                "uniprot_canonical_ac": "O95479-1",
                "protein_name": "GDH/6PGL endoplasmic bifunctional protein",
                "gene_name": "H6PD",
                "tax_name": "Human"
            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "O95479",
                        "url": "https://www.uniprot.org/uniprotkb/O95479"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "snv": [
            {
                "evidence": [
                    {
                        "id": "O95479",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95479"
                    },
                    {
                        "id": "rs6688832",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs6688832"
                    },
                    {
                        "id": "rs6688832",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs6688832"
                    },
                    {
                        "id": "rs6688832",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs6688832"
                    },
                    {
                        "id": "rs6688832",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs6688832#frequency_tab"
                    },
                    {
                        "id": "rs6688832",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs6688832"
                    },
                    {
                        "id": "12858176",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/12858176"
                    },
                    {
                        "id": "15827106",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/15827106"
                    },
                    {
                        "id": "16091483",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/16091483"
                    },
                    {
                        "id": "16817821",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/16817821"
                    },
                    {
                        "id": "17062770",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/17062770"
                    },
                    {
                        "id": "18628520",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/18628520"
                    },
                    {
                        "id": "rs6688832",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs6688832"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 453,
                "end_pos": 453,
                "subjects_tested": "4799",
                "subjects_positive": "4",
                "frequency": "0.1",
                "sequence_org": "R",
                "sequence_mut": "Q",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate synthesis and metabolism/metabolic enzymes).",
                "chr_id": "1",
                "chr_pos": "9263851",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "R453",
                "disease": [
                    {
                        "disease_id": "DOID:1324",
                        "recommended_name": {
                            "id": "DOID:1324",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:1324",
                            "name": "lung cancer",
                            "description": "A respiratory system cancer that is located_in the lung."
                        },
                        "synonyms": [
                            {
                                "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: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: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": "MIM:211980",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/211980",
                                "name": "Lung cancer",
                                "description": "Lung cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:4765"
                        ],
                        "evidence": [
                            {
                                "id": "1324",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1324"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2531",
                        "recommended_name": {
                            "id": "DOID:2531",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2531",
                            "name": "hematologic cancer",
                            "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "Hematologic malignancy",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "Hematologic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "Hematological tumors",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "blood cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic and lymphoid system tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic tumors",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "malignant hematopoietic neoplasm",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:0081452",
                            "DOID:706",
                            "DOID:1039",
                            "DOID:5604",
                            "DOID:6536",
                            "DOID:0080638",
                            "DOID:7757",
                            "DOID:0050743",
                            "DOID:4960",
                            "DOID:8527",
                            "DOID:1036",
                            "DOID:5772"
                        ],
                        "evidence": [
                            {
                                "id": "2531",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2531"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0090139",
                        "recommended_name": {
                            "id": "DOID:0090139",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0090139",
                            "name": "cortisone reductase deficiency",
                            "description": "An endocrine system disease characterized by failure to regenerate the active glucocorticoid cortisol from cortisone resulting in adrenal hyperandrogenism."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0090139",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0090139",
                                "name": "CORTRD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency 1",
                                "description": "Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency."
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "CORTRD1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "H6PD cortisone reductase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "apparent cortisone reductase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency caused by mutation in H6PD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "hexose-6-phosphate dehydrogenase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:604931",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/604931",
                                "name": "Cortisone reductase deficiency 1",
                                "description": "Cortisone reductase deficiency 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0090139",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0090139"
                            },
                            {
                                "id": "0090139",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0090139"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0090141",
                        "recommended_name": {
                            "id": "DOID:0090141",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0090141",
                            "name": "cortisone reductase deficiency 1",
                            "description": "A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0090141",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0090141",
                                "name": "CORTRD1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency 1",
                                "description": "Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency."
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "CORTRD1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "H6PD cortisone reductase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "apparent cortisone reductase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency caused by mutation in H6PD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "hexose-6-phosphate dehydrogenase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:604931",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/604931",
                                "name": "Cortisone reductase deficiency 1",
                                "description": "Cortisone reductase deficiency 1"
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    {
        "title": "Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome.",
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        "date": "2006-07",
        "authors": "Draper Nicole, Powell Brenda L, Franks Steve, Conway Gerard S, Stewart Paul M, McCarthy Mark I",
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                                "description": ""
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                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
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                                "description": ""
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                            {
                                "id": "DOID:2531",
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                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "malignant hematopoietic neoplasm",
                                "description": ""
                            }
                        ],
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                            "DOID:706",
                            "DOID:1039",
                            "DOID:5604",
                            "DOID:6536",
                            "DOID:0080638",
                            "DOID:7757",
                            "DOID:0050743",
                            "DOID:4960",
                            "DOID:8527",
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                    },
                    {
                        "disease_id": "DOID:0090139",
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                            "id": "DOID:0090139",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0090139",
                            "name": "cortisone reductase deficiency",
                            "description": "An endocrine system disease characterized by failure to regenerate the active glucocorticoid cortisol from cortisone resulting in adrenal hyperandrogenism."
                        },
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                            {
                                "id": "DOID:0090139",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0090139",
                                "name": "CORTRD",
                                "description": ""
                            },
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                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency 1",
                                "description": "Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency."
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "CORTRD1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "H6PD cortisone reductase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "apparent cortisone reductase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency caused by mutation in H6PD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "hexose-6-phosphate dehydrogenase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:604931",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/604931",
                                "name": "Cortisone reductase deficiency 1",
                                "description": "Cortisone reductase deficiency 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0090139",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0090139"
                            },
                            {
                                "id": "0090139",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0090139"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0090141",
                        "recommended_name": {
                            "id": "DOID:0090141",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0090141",
                            "name": "cortisone reductase deficiency 1",
                            "description": "A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0090141",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0090141",
                                "name": "CORTRD1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency 1",
                                "description": "Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency."
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
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                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "H6PD cortisone reductase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "apparent cortisone reductase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
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                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency caused by mutation in H6PD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "hexose-6-phosphate dehydrogenase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:604931",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/604931",
                                "name": "Cortisone reductase deficiency 1",
                                "description": "Cortisone reductase deficiency 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "604931",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/604931"
                            },
                            {
                                "id": "0090141",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0090141"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ],
                "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000",
                "uniprot_canonical_ac": "O95479-1"
            }
        ],
        "record_id": "pubmed.16817821",
        "abstract": "",
        "glycosylation": [],
        "mutagenesis": [],
        "phosphorylation": [],
        "glycation": [],
        "section_stats": [
            {
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                ],
                "sort_fields": [
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            },
            {
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                ],
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            },
            {
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                    },
                    {
                        "field": "n_linked_glycan_sites",
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                    },
                    {
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                    {
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                    },
                    {
                        "field": "o_linked_glycans",
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                ],
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            },
            {
                "table_id": "phosphorylation",
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                ],
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            {
                "table_id": "glycosylation_reported",
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                    {
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                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_reported_with_glycan",
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            {
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        ]
    },
    {
        "title": "Lack of Association of the 11beta-hydroxysteroid dehydrogenase type 1 gene 83,557insA and hexose-6-phosphate dehydrogenase gene R453Q polymorphisms with body composition, adrenal androgen production, blood pressure, glucose metabolism, and dementia.",
        "journal": "The Journal of clinical endocrinology and metabolism",
        "date": "2007-01",
        "authors": "Smit Pauline, Dekker Marieke J H J, de Jong Frank Jan, van den Beld Annewieke W, Koper Jan W, Pols Huibert A P, Brinkmann Albert O, de Jong Frank H, Breteler Monique M B, Lamberts Steven W J",
        "reference": {
            "type": "PubMed",
            "id": "17062770",
            "url": "https://pubmed.ncbi.nlm.nih.gov/17062770"
        },
        "referenced_glycans": [],
        "referenced_proteins": [
            {
                "uniprot_canonical_ac": "O95479-1",
                "protein_name": "GDH/6PGL endoplasmic bifunctional protein",
                "gene_name": "H6PD",
                "tax_name": "Human"
            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "O95479",
                        "url": "https://www.uniprot.org/uniprotkb/O95479"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "snv": [
            {
                "evidence": [
                    {
                        "id": "O95479",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95479"
                    },
                    {
                        "id": "rs6688832",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs6688832"
                    },
                    {
                        "id": "rs6688832",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs6688832"
                    },
                    {
                        "id": "rs6688832",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs6688832"
                    },
                    {
                        "id": "rs6688832",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs6688832#frequency_tab"
                    },
                    {
                        "id": "rs6688832",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs6688832"
                    },
                    {
                        "id": "12858176",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/12858176"
                    },
                    {
                        "id": "15827106",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/15827106"
                    },
                    {
                        "id": "16091483",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/16091483"
                    },
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                        "id": "16817821",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/16817821"
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                    {
                        "id": "17062770",
                        "database": "PubMed",
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                    {
                        "id": "18628520",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/18628520"
                    },
                    {
                        "id": "rs6688832",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs6688832"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 453,
                "end_pos": 453,
                "subjects_tested": "4799",
                "subjects_positive": "4",
                "frequency": "0.1",
                "sequence_org": "R",
                "sequence_mut": "Q",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate synthesis and metabolism/metabolic enzymes).",
                "chr_id": "1",
                "chr_pos": "9263851",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "R453",
                "disease": [
                    {
                        "disease_id": "DOID:1324",
                        "recommended_name": {
                            "id": "DOID:1324",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:1324",
                            "name": "lung cancer",
                            "description": "A respiratory system cancer that is located_in the lung."
                        },
                        "synonyms": [
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            },
                            {
                                "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",
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                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "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": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "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: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: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",
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                            {
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                            }
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                            "name": "cortisone reductase deficiency",
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                        },
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                                "description": "Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency."
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                            {
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                                "resource": "MONDO",
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                            {
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    },
    {
        "title": "Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency.",
        "journal": "The Journal of clinical endocrinology and metabolism",
        "date": "2008",
        "authors": "Lavery GG, Walker EA, Tiganescu A, Ride JP, Shackleton CH, Tomlinson JW, Connell JM, Ray DW, Biason-Lauber A, Malunowicz EM, Arlt W, Stewart PM",
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                            {
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                            "url": "https://disease-ontology.org/term/DOID:0090141",
                            "name": "cortisone reductase deficiency 1",
                            "description": "A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0090141",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0090141",
                                "name": "CORTRD1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency 1",
                                "description": "Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency."
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "CORTRD1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "H6PD cortisone reductase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "apparent cortisone reductase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency caused by mutation in H6PD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
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                                "description": ""
                            },
                            {
                                "id": "MIM:604931",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/604931",
                                "name": "Cortisone reductase deficiency 1",
                                "description": "Cortisone reductase deficiency 1"
                            }
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                                "id": "604931",
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                            {
                                "id": "0090141",
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                    }
                ],
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                    {
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                    {
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                    {
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                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs398122817"
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                        "id": "12858176",
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                        "url": "https://pubmed.ncbi.nlm.nih.gov/12858176"
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                    {
                        "id": "18628520",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/18628520"
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                ],
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                "start_pos": 316,
                "end_pos": 316,
                "subjects_tested": "0",
                "subjects_positive": "0",
                "frequency": "0.0",
                "sequence_org": "Y",
                "sequence_mut": "*",
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                "chr_pos": "9262261",
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                "site_lbl": "Y316",
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                            {
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                                "resource": "MONDO",
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                                "description": ""
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "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",
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                                "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",
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                                "description": ""
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                            {
                                "id": "MONDO:0008903",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "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",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
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                                "resource": "MONDO",
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                                "id": "MONDO:0012159",
                                "resource": "MONDO",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
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                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
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                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
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                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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                                "resource": "MONDO",
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
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                            {
                                "id": "MONDO:0013631",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
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                                "url": "https://www.omim.org/entry/211980",
                                "name": "Lung cancer",
                                "description": "Lung cancer"
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                                "id": "1324",
                                "database": "AGR",
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                            {
                                "id": "MONDO:0011503",
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                            {
                                "id": "MONDO:0011503",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
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                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
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                                "description": ""
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
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                                "description": ""
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                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/604931",
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                                "id": "0090139",
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                            },
                            {
                                "id": "0090139",
                                "database": "AGR",
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                            "url": "https://disease-ontology.org/term/DOID:0090141",
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                                "description": "Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency."
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                            {
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                            {
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                                "description": ""
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                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency 1",
                                "description": ""
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                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency caused by mutation in H6PD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
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                                "description": ""
                            },
                            {
                                "id": "MIM:604931",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/604931",
                                "name": "Cortisone reductase deficiency 1",
                                "description": "Cortisone reductase deficiency 1"
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                            },
                            {
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                ],
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            {
                "evidence": [
                    {
                        "id": "O95479",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95479"
                    },
                    {
                        "id": "rs387907167",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs387907167"
                    },
                    {
                        "id": "rs387907167",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs387907167"
                    },
                    {
                        "id": "rs387907167",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs387907167"
                    },
                    {
                        "id": "12858176",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/12858176"
                    },
                    {
                        "id": "18628520",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/18628520"
                    },
                    {
                        "id": "rs387907167",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs387907167"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 359,
                "end_pos": 359,
                "subjects_tested": "9251",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "G",
                "sequence_mut": "D",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate synthesis and metabolism/metabolic enzymes).",
                "chr_id": "1",
                "chr_pos": "9263569",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "G359",
                "disease": [
                    {
                        "disease_id": "DOID:2531",
                        "recommended_name": {
                            "id": "DOID:2531",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2531",
                            "name": "hematologic cancer",
                            "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "Hematologic malignancy",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "Hematologic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "Hematological tumors",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "blood cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic and lymphoid system tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic tumors",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "malignant hematopoietic neoplasm",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:0081452",
                            "DOID:706",
                            "DOID:1039",
                            "DOID:5604",
                            "DOID:6536",
                            "DOID:0080638",
                            "DOID:7757",
                            "DOID:0050743",
                            "DOID:4960",
                            "DOID:8527",
                            "DOID:1036",
                            "DOID:5772"
                        ],
                        "evidence": [
                            {
                                "id": "2531",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2531"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0090139",
                        "recommended_name": {
                            "id": "DOID:0090139",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0090139",
                            "name": "cortisone reductase deficiency",
                            "description": "An endocrine system disease characterized by failure to regenerate the active glucocorticoid cortisol from cortisone resulting in adrenal hyperandrogenism."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0090139",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0090139",
                                "name": "CORTRD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency 1",
                                "description": "Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency."
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "CORTRD1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "H6PD cortisone reductase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "apparent cortisone reductase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency caused by mutation in H6PD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "hexose-6-phosphate dehydrogenase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:604931",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/604931",
                                "name": "Cortisone reductase deficiency 1",
                                "description": "Cortisone reductase deficiency 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0090139",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0090139"
                            },
                            {
                                "id": "0090139",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0090139"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0090141",
                        "recommended_name": {
                            "id": "DOID:0090141",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0090141",
                            "name": "cortisone reductase deficiency 1",
                            "description": "A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0090141",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0090141",
                                "name": "CORTRD1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency 1",
                                "description": "Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency."
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "CORTRD1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "H6PD cortisone reductase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "apparent cortisone reductase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency caused by mutation in H6PD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "hexose-6-phosphate dehydrogenase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:604931",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/604931",
                                "name": "Cortisone reductase deficiency 1",
                                "description": "Cortisone reductase deficiency 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "604931",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/604931"
                            },
                            {
                                "id": "0090141",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0090141"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ],
                "filter_code": "000000010000000000000.00000000000000.000000000001000000.00001.01.000.000",
                "uniprot_canonical_ac": "O95479-1"
            },
            {
                "evidence": [
                    {
                        "id": "O95479",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95479"
                    },
                    {
                        "id": "rs6688832",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs6688832"
                    },
                    {
                        "id": "rs6688832",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs6688832"
                    },
                    {
                        "id": "rs6688832",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs6688832"
                    },
                    {
                        "id": "rs6688832",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs6688832#frequency_tab"
                    },
                    {
                        "id": "rs6688832",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs6688832"
                    },
                    {
                        "id": "12858176",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/12858176"
                    },
                    {
                        "id": "15827106",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/15827106"
                    },
                    {
                        "id": "16091483",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/16091483"
                    },
                    {
                        "id": "16817821",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/16817821"
                    },
                    {
                        "id": "17062770",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/17062770"
                    },
                    {
                        "id": "18628520",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/18628520"
                    },
                    {
                        "id": "rs6688832",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs6688832"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 453,
                "end_pos": 453,
                "subjects_tested": "4799",
                "subjects_positive": "4",
                "frequency": "0.1",
                "sequence_org": "R",
                "sequence_mut": "Q",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate synthesis and metabolism/metabolic enzymes).",
                "chr_id": "1",
                "chr_pos": "9263851",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "R453",
                "disease": [
                    {
                        "disease_id": "DOID:1324",
                        "recommended_name": {
                            "id": "DOID:1324",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:1324",
                            "name": "lung cancer",
                            "description": "A respiratory system cancer that is located_in the lung."
                        },
                        "synonyms": [
                            {
                                "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: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: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",
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                "glygen_name": "Human",
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        "record_id": "pubmed.38245533",
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    {
        "title": "cDNA cloning and genomic structure of human bone morphogenetic protein-3B (BMP-3b).",
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        "date": "1996",
        "authors": "Hino J, Takao M, Takeshita N, Konno Y, Nishizawa T, Matsuo H, Kangawa K",
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                "uniprot_canonical_ac": "P55107-1",
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        ],
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            {
                "name": "Homo sapiens",
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                    {
                        "database": "UniProtKB",
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                ],
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                "reference_species": "Homo sapiens [9606]"
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        ],
        "record_id": "pubmed.8670277",
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    {
        "title": "Multiple transcription initiation and alternative splicing in the 5' untranslated region of the core 2 beta1-6 N-acetylglucosaminyltransferase I gene.",
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        "date": "2003",
        "authors": "Falkenberg VR, Alvarez K, Roman C, Fregien N",
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        ]
    },
    {
        "title": "N-glycans of core2 beta(1,6)-N-acetylglucosaminyltransferase-I (C2GnT-I) but not those of alpha(1,3)-fucosyltransferase-VII (FucT-VII) are required for the synthesis of functional P-selectin glycoprotein ligand-1 (PSGL-1): effects on P-, L- and E-selectin binding.",
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        "authors": "Prorok-Hamon M, Notel F, Mathieu S, Langlet C, Fukuda M, El-Battari A",
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                "uniprot_canonical_ac": "Q11130-1",
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        ],
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            {
                "glytoucan_ac": "",
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                    {
                        "id": "15926890",
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                    {
                        "id": "GLY_000481",
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                ],
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                "filter_code": "001000000000000000000.00010000000000.00.01001",
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            {
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                ],
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            {
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                "site_category_dict": {
                    "reported": true
                },
                "site_seq": "N",
                "relation": "attached",
                "comment": "N-linked (GlcNAc...) asparagine",
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                "start_pos": 291,
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                "comment": "Slightly affects glycosylation. Impairs glycosylation; when associated with Q-81. Does not affect SELP and SELL binding on SELPLG. Does not affect SELP and SELL binding on SELPLG; when associated with Q-81. Abolishes alpha-(1,3)-fucosyltransferase activity. Abolishes alpha-(1,3)-fucosyltransferase activity; when associated with Q-81. Fails to synthetises sLe(x) antigens or to generate SELE binding. Fails to synthetises sLe(x) antigens or to generate SELE binding; when associated with Q-81. Does not affect sLe(x) antigens synthesis or SELE binding only in presence of SELPLG and GCNT1; when associated with Q-81.",
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