[
    {
        "title": "Intragenic interspecific complementation of glucose 6-phosphate dehydrogenase in human-hamster cell hybrids.",
        "journal": "Somatic cell and molecular genetics",
        "date": "1990-03",
        "authors": "Town M, Athanasiou-Metaxa M, Luzzatto L",
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                "start_pos": 216,
                "end_pos": 216,
                "sequence_org": "F",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.",
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                "chr_pos": "154534157",
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                "alt_nt": "null",
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        "title": "Identification of a single base change in a new human mutant glucose-6-phosphate dehydrogenase gene by polymerase-chain-reaction amplification of the entire coding region from genomic DNA.",
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    {
        "title": "G6PD Canton a common deficient variant in South East Asia caused by a 459 Arg----Leu mutation.",
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        "date": "1990-12-11",
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                                "name": "HNSHA",
                                "description": ""
                            },
                            {
                                "id": "DOID:2861",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2861",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2861",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2861",
                                "name": "hereditary nonspherocytic hemolytic anaemia",
                                "description": ""
                            },
                            {
                                "id": "DOID:2861",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2861",
                                "name": "hereditary nonspherocytic hemolytic anemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008789",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008789",
                                "name": "anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008789",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008789",
                                "name": "anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008790",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008790",
                                "name": "anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008790",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008790",
                                "name": "anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "anemia, nonspherocytic hemolytic, due to G6PD deficiency",
                                "description": "Any nonspherocytic hemolytic anemia in which the cause of the disease is a variation in the G6PD gene resulting in severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Individuals with hemizygous or homozygous G6PD variants associated with chronic nonspherocytic hemolytic anemia (CNSHA) will clinically manifest CNSHA. Individuals with G6PD variants that cause CNSHA are at risk for severe neonatal jaundice and acute exacerbation of their chronic hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans."
                            },
                            {
                                "id": "MONDO:0010480",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
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                                "name": "anemia, congenital, nonspherocytic hemolytic, 1, G6PD deficient",
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                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
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                            },
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                                "resource": "MONDO",
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                                "id": "MONDO:0010480",
                                "resource": "MONDO",
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                                "resource": "MONDO",
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                                "resource": "MONDO",
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                            },
                            {
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                ],
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            {
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                            "url": "https://disease-ontology.org/term/DOID:1319",
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                            {
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                            {
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                            {
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                            {
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                            {
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                            "DOID:3541",
                            "DOID:4706",
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                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0008790",
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                                "description": ""
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                                "id": "MONDO:0010480",
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                            },
                            {
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                                "description": ""
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                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "anemia, congenital, nonspherocytic hemolytic, 1, G6PD deficient",
                                "description": ""
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                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "anemia, nonspherocytic hemolytic, due to G6PD deficiency",
                                "description": ""
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                            {
                                "id": "MONDO:0010480",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "hemolytic anaemia due to G6PD deficiency",
                                "description": ""
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                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "hemolytic anemia due to G6PD deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
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        "title": "Molecular heterogeneity of glucose-6-phosphate dehydrogenase A-.",
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                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "anemia, nonspherocytic hemolytic, due to G6PD deficiency",
                                "description": "Any nonspherocytic hemolytic anemia in which the cause of the disease is a variation in the G6PD gene resulting in severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Individuals with hemizygous or homozygous G6PD variants associated with chronic nonspherocytic hemolytic anemia (CNSHA) will clinically manifest CNSHA. Individuals with G6PD variants that cause CNSHA are at risk for severe neonatal jaundice and acute exacerbation of their chronic hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans."
                            },
                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "Class I G6PD deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "anemia, congenital, nonspherocytic hemolytic, 1, G6PD deficient",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "anemia, nonspherocytic hemolytic, due to G6PD deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "class I glucose-6-phosphate dehydrogenase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "hemolytic anaemia due to G6PD deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "hemolytic anemia due to G6PD deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "hemolytic anemia, G6PD deficient (favism), X-linked dominant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "severe hemolytic anaemia due to G6PD deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "severe hemolytic anemia due to G6PD deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:300908",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/300908",
                                "name": "Anemia, congenital, non-spherocytic hemolytic, 1",
                                "description": "Anemia, congenital, non-spherocytic hemolytic, 1"
                            }
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                            {
                                "id": "0051003",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0051003"
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        "title": "O-GlcNAcylation of G6PD promotes the pentose phosphate pathway and tumor growth.",
        "journal": "Nature communications",
        "date": "2015",
        "authors": "Rao X, Duan X, Mao W, Li X, Li Z, Li Q, Zheng Z, Xu H, Chen M, Wang PG, Wang Y, Shen B, Yi W",
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                    {
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                    {
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                ],
                "sort_fields": []
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        ]
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    {
        "title": "Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A(-).",
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        "authors": "Hirono A, Beutler E",
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            "url": "https://pubmed.ncbi.nlm.nih.gov/2836867"
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            {
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                    {
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                        "database": "PubMed",
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                    {
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                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/1978554"
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                    {
                        "id": "2253938",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/2253938"
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                    {
                        "id": "2503817",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/2503817"
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                    {
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                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/2572288"
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                    {
                        "id": "2836867",
                        "database": "PubMed",
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                    {
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                        "url": "https://pubmed.ncbi.nlm.nih.gov/2912886"
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                    {
                        "id": "3393536",
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                    },
                    {
                        "id": "4388132",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/4388132"
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                    {
                        "id": "5448",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/5448"
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                    {
                        "id": "5492291",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/5492291"
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                        "database": "PubMed",
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                    {
                        "id": "669721",
                        "database": "PubMed",
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                    {
                        "id": "7106752",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/7106752"
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                    {
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                "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.",
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                            {
                                "id": "MONDO:0008789",
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                            {
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                            {
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                                "id": "MONDO:0008903",
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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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",
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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",
                                "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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                            {
                                "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",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                                "name": "malignant tumour of the lung",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                            {
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                                "resource": "MONDO",
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                                "resource": "MONDO",
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                            {
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                            {
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
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                                "resource": "MONDO",
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        "title": "Two point mutations are responsible for G6PD polymorphism in Sardinia.",
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    {
        "title": "Chronic nonspherocytic hemolytic anemia (CNSHA) and glucose 6 phosphate dehydrogenase (G6PD) deficiency in a patient with familial amyloidotic polyneuropathy (FAP). Molecular study of a new variant (G6PD Clinic) with markedly acidic pH optimum.",
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2861",
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                            "description": ""
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                                "id": "DOID:2861",
                                "resource": "Disease Ontology",
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                                "name": "HNSHA",
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                                "id": "DOID:2861",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2861",
                                "name": "congenital nonspherocytic hemolytic anaemia",
                                "description": ""
                            },
                            {
                                "id": "DOID:2861",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2861",
                                "name": "hereditary nonspherocytic hemolytic anaemia",
                                "description": ""
                            },
                            {
                                "id": "DOID:2861",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2861",
                                "name": "hereditary nonspherocytic hemolytic anemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008789",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008789",
                                "name": "anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008789",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008789",
                                "name": "anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008790",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008790",
                                "name": "anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008790",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008790",
                                "name": "anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "anemia, nonspherocytic hemolytic, due to G6PD deficiency",
                                "description": "Any nonspherocytic hemolytic anemia in which the cause of the disease is a variation in the G6PD gene resulting in severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Individuals with hemizygous or homozygous G6PD variants associated with chronic nonspherocytic hemolytic anemia (CNSHA) will clinically manifest CNSHA. Individuals with G6PD variants that cause CNSHA are at risk for severe neonatal jaundice and acute exacerbation of their chronic hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans."
                            },
                            {
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        "title": "A new structural variant of glucose-6-phosphate dehydrogenase with a high production rate (G6PD Hektoen).",
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                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "adult brain tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "adult malignant brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "brain neoplasm, adult",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant brain tumour",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant primary brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
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                                "description": ""
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                            {
                                "id": "DOID:1319",
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                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant tumor of Brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
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                                "description": ""
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                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
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                                "name": "primary brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "primary brain tumor",
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                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
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                                "description": "Any nonspherocytic hemolytic anemia in which the cause of the disease is a variation in the G6PD gene resulting in severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Individuals with hemizygous or homozygous G6PD variants associated with chronic nonspherocytic hemolytic anemia (CNSHA) will clinically manifest CNSHA. Individuals with G6PD variants that cause CNSHA are at risk for severe neonatal jaundice and acute exacerbation of their chronic hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans."
                            },
                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "Class I G6PD deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "anemia, congenital, nonspherocytic hemolytic, 1, G6PD deficient",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "anemia, nonspherocytic hemolytic, due to G6PD deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "class I glucose-6-phosphate dehydrogenase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "hemolytic anaemia due to G6PD deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "hemolytic anemia due to G6PD deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "hemolytic anemia, G6PD deficient (favism), X-linked dominant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "severe hemolytic anaemia due to G6PD deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "severe hemolytic anemia due to G6PD deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:300908",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/300908",
                                "name": "Anemia, congenital, non-spherocytic hemolytic, 1",
                                "description": "Anemia, congenital, non-spherocytic hemolytic, 1"
                            }
                        ],
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                        "evidence": [
                            {
                                "id": "0051003",
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                            },
                            {
                                "id": "0051003",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0051003"
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                        ]
                    }
                ],
                "keywords": [
                    "ebi",
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                "filter_code": "000100000000000000000.00000000000000.000000000001000000.00001.10.000.000",
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        ],
        "record_id": "pubmed.5305539",
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        "phosphorylation": [],
        "glycation": [],
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            {
                "table_id": "referenced_proteins",
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                        "count": 1
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                ],
                "sort_fields": [
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                ],
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            },
            {
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                    },
                    {
                        "field": "n_linked_glycans",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycans",
                        "count": 0
                    }
                ],
                "sort_fields": []
            },
            {
                "table_id": "phosphorylation",
                "table_stats": [
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                        "count": 0
                    },
                    {
                        "field": "total_sites",
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                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_reported",
                "table_stats": [
                    {
                        "field": "total",
                        "count": 0
                    },
                    {
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                        "count": 0
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                        "field": "n_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycans",
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                ],
                "sort_fields": []
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            {
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            {
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            {
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                    {
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                ],
                "sort_fields": []
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        ]
    },
    {
        "title": "Hereditary hemolytic anemia associated with glucose-6-phosphate dehydrogenase deficiency (Mediterranean type).",
        "journal": "Israel journal of medical sciences",
        "date": "1969",
        "authors": "Benbassat J, Ben-Ishay D",
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            "type": "PubMed",
            "id": "5369703",
            "url": "https://pubmed.ncbi.nlm.nih.gov/5369703"
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            {
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        ],
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            {
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        ],
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            {
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                    {
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                    {
                        "id": "rs5030868",
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                    {
                        "id": "rs5030868",
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                    },
                    {
                        "id": "rs5030868",
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                    {
                        "id": "11445808",
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                    {
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                "subjects_tested": "2670",
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                    {
                        "disease_id": "DOID:1319",
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:1319",
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                            {
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                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
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                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "brain neoplasm, adult",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant brain tumour",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant primary brain neoplasm",
                                "description": ""
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                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
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                            {
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                            {
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                                "resource": "Disease Ontology",
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                                "description": ""
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                            {
                                "id": "DOID:1319",
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                                "description": ""
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                            {
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                                "url": "https://disease-ontology.org/term/DOID:1319",
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                                "description": ""
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                            {
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                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
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                            {
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                            },
                            {
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                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
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                            "DOID:1659",
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                    },
                    {
                        "disease_id": "DOID:2861",
                        "recommended_name": {
                            "id": "DOID:2861",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2861",
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                            "description": ""
                        },
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                            {
                                "id": "DOID:2861",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2861",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2861",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2861",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2861",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2861",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2861",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2861",
                                "name": "hereditary nonspherocytic hemolytic anemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008789",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008789",
                                "name": "anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008789",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008789",
                                "name": "anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008790",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008790",
                                "name": "anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008790",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008790",
                                "name": "anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "anemia, nonspherocytic hemolytic, due to G6PD deficiency",
                                "description": "Any nonspherocytic hemolytic anemia in which the cause of the disease is a variation in the G6PD gene resulting in severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Individuals with hemizygous or homozygous G6PD variants associated with chronic nonspherocytic hemolytic anemia (CNSHA) will clinically manifest CNSHA. Individuals with G6PD variants that cause CNSHA are at risk for severe neonatal jaundice and acute exacerbation of their chronic hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans."
                            },
                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "Class I G6PD deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "anemia, congenital, nonspherocytic hemolytic, 1, G6PD deficient",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "anemia, nonspherocytic hemolytic, due to G6PD deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "class I glucose-6-phosphate dehydrogenase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "hemolytic anaemia due to G6PD deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "hemolytic anemia due to G6PD deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "hemolytic anemia, G6PD deficient (favism), X-linked dominant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010480",
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    {
        "title": "Selectivity of proteases as a basis for tissue distribution of enzymes in hereditary deficiencies.",
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                            {
                                "id": "DOID:2861",
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                            {
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                            {
                                "id": "DOID:2861",
                                "resource": "Disease Ontology",
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008789",
                                "name": "anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008789",
                                "resource": "MONDO",
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                                "name": "anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008790",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008790",
                                "name": "anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008790",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008790",
                                "name": "anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism",
                                "description": ""
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                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
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                            {
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                            {
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                                "id": "MONDO:0010480",
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                            {
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
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                                "description": ""
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                            {
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                                "name": "anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane",
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008790",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008790",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008790",
                                "name": "anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism",
                                "description": ""
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                            {
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                            {
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                                "id": "MONDO:0010480",
                                "resource": "MONDO",
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                            {
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                                "description": ""
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                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "hemolytic anemia due to G6PD deficiency",
                                "description": ""
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                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
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                                "description": ""
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                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
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                                "description": ""
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                            {
                                "id": "MONDO:0010480",
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                                "description": ""
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                    },
                    {
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        "title": "A variant glucose-6-phosphate dehydrogenase Gd(-) Chiapas associated with moderate enzyme deficiency and occasional hemolytic anemia.",
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                        "disease_id": "DOID:2861",
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2861",
                            "name": "congenital nonspherocytic hemolytic anemia",
                            "description": ""
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                                "resource": "Disease Ontology",
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                                "name": "congenital nonspherocytic hemolytic anaemia",
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                            },
                            {
                                "id": "DOID:2861",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2861",
                                "name": "hereditary nonspherocytic hemolytic anaemia",
                                "description": ""
                            },
                            {
                                "id": "DOID:2861",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2861",
                                "name": "hereditary nonspherocytic hemolytic anemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008789",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008789",
                                "name": "anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008789",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008789",
                                "name": "anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008790",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008790",
                                "name": "anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008790",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008790",
                                "name": "anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "anemia, nonspherocytic hemolytic, due to G6PD deficiency",
                                "description": "Any nonspherocytic hemolytic anemia in which the cause of the disease is a variation in the G6PD gene resulting in severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Individuals with hemizygous or homozygous G6PD variants associated with chronic nonspherocytic hemolytic anemia (CNSHA) will clinically manifest CNSHA. Individuals with G6PD variants that cause CNSHA are at risk for severe neonatal jaundice and acute exacerbation of their chronic hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans."
                            },
                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "Class I G6PD deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "anemia, congenital, nonspherocytic hemolytic, 1, G6PD deficient",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
                                "name": "anemia, nonspherocytic hemolytic, due to G6PD deficiency",
                                "description": ""
                            },
                            {
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    },
    {
        "title": "G6PD Cagliari: a new low activity glucose 6-phosphate dehydrogenase variant characterized by enhanced intracellular lability.",
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        "date": "1984",
        "authors": "Morelli A, Benatti U, Guida L, De Flora A",
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        "title": "A new glucose-6-phosphate dehydrogenase variant (G-6-PD Kalyan) found in a Koli family.",
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    {
        "title": "Gd(-) Gifu and Gd(-) Fukuoka. Two new variants of glucose-6-phosphate dehydrogenase found in Japan.",
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    {
        "title": "Severe-glucose-6-phosphate dehydrogenase (G6PD) deficiency associated with chronic hemolytic anemia, granulocyte dysfunction, and increased susceptibility to infections: description of a new molecular variant (G6PD Barcelona).",
        "journal": "Blood",
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    {
        "title": "G-6-PD Guadalajara. A new mutant associated with chronic nonspherocytic hemolytic anemia.",
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                        "disease_id": "DOID:1319",
                        "recommended_name": {
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:1319",
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                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
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                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "brain neoplasm, adult",
                                "description": ""
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                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
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                                "description": ""
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                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
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                                "name": "malignant primary brain neoplasm",
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                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
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                                "resource": "Disease Ontology",
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                                "name": "malignant tumor of Brain",
                                "description": ""
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                                "resource": "Disease Ontology",
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                                "name": "malignant tumor of adult brain",
                                "description": ""
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                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "neoplasm of brain",
                                "description": ""
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                            {
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                                "resource": "Disease Ontology",
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                                "resource": "Disease Ontology",
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                                "resource": "Disease Ontology",
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                            "DOID:4706",
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                            "id": "DOID:2861",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2861",
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                                "name": "hereditary nonspherocytic hemolytic anemia",
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                                "name": "anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane",
                                "description": ""
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                            {
                                "id": "MONDO:0008789",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008789",
                                "name": "anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane",
                                "description": ""
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                                "id": "MONDO:0008790",
                                "resource": "MONDO",
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                                "description": ""
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                                "resource": "MONDO",
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                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
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                                "description": ""
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                            {
                                "id": "MONDO:0010480",
                                "resource": "MONDO",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010480",
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                            {
                                "id": "MONDO:0010480",
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                                "description": ""
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                            }
                        ],
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                            {
                                "id": "0051003",
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                ],
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                    "biomuta",
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        ],
        "record_id": "pubmed.7129446",
        "abstract": "",
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    },
    {
        "title": "G6PD-Puerto Lim\u00f3n: a new deficient variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia.",
        "journal": "Human genetics",
        "date": "1982",
        "authors": "Elizondo J, S\u00e1enz G F, P\u00e1ez C A, Ram\u00f3n M, Garc\u00eda M, Guti\u00e9rrez A, Estrada M",
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            }
        ],
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                "name": "Homo sapiens",
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            }
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                    {
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                    {
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                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs387906468"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 368,
                "end_pos": 368,
                "subjects_tested": "1704",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "E",
                "sequence_mut": "K",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate synthesis and metabolism/metabolic enzymes).",
                "chr_id": "23",
                "chr_pos": "154532752",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "E368",
                "disease": [
                    {
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:363",
                            "name": "uterine cancer",
                            "description": "A female reproductive organ cancer that is located_in the uterus."
                        },
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        "title": "Genetic heterogeneity of glucose 6-phosphate dehydrogenase deficiency in Sardinia.",
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                                "id": "DOID:1319",
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                                "resource": "Disease Ontology",
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                                "resource": "Disease Ontology",
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                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
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    {
        "title": "[Federal District glucose-6-phosphate dehydrogenase Gd(-). A new variant associated with moderate enzyme deficiency and occasional hemolytic anemia].",
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        "title": "Glucose 6-phosphate dehydrogenase activity in membranes of erythrocytes from normal individuals and subjects with Mediterranean G6PD deficiency.",
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                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2861",
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                            {
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                                "resource": "Disease Ontology",
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                            {
                                "id": "MONDO:0008789",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008789",
                                "name": "anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008789",
                                "resource": "MONDO",
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                                "name": "anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane",
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                            {
                                "id": "MONDO:0008790",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008790",
                                "resource": "MONDO",
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                            },
                            {
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                            {
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        ]
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    {
        "title": "G6PD `campinas:` a deficient enzyme with a mutation at the far 3' end of the gene.",
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        "title": "G6PD Aures: a new mutation (48 Ile-->Thr) causing mild G6PD deficiency is associated with favism.",
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    {
        "title": "A new glucose-6-phosphate dehydrogenase variant, G6PD Orissa (44 Ala-->Gly), is the major polymorphic variant in tribal populations in India.",
        "journal": "American journal of human genetics",
        "date": "1995",
        "authors": "Kaeda JS, Chhotray GP, Ranjit MR, Bautista JM, Reddy PH, Stevens D, Naidu JM, Britt RP, Vulliamy TJ, Luzzatto L, et al.",
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    },
    {
        "title": "Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: a dose-dependent genetic interaction crucial to neonatal hyperbilirubinemia.",
        "journal": "Proceedings of the National Academy of Sciences of the United States of America",
        "date": "1997-10-28",
        "authors": "Kaplan M, Renbaum P, Levy-Lahad E, Hammerman C, Lahad A, Beutler E",
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]
