[
    {
        "title": "GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.",
        "journal": "Molecular genetics and metabolism",
        "date": "2008-08",
        "authors": "Brunetti-Pierri Nicola, Scaglia Fernando",
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        "title": "Glycosphingolipid specificity of the human sulfatide activator protein.",
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        "title": "A Comparative Study of Human Saposins.",
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    {
        "title": "A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant.",
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        "authors": "Nakano T, Muscillo M, Ohno K, Hoffman AJ, Suzuki K",
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        "title": "Oligosaccharide structure and amino acid sequence of the major glycopeptides of mature human beta-hexosaminidase.",
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    {
        "title": "Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.",
        "journal": "American journal of human genetics",
        "date": "2019",
        "authors": "Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Bertoli-Avella A, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS",
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    {
        "title": "Evidence for two different active sites on human beta-hexosaminidase A. Interaction of GM2 activator protein with beta-hexosaminidase A.",
        "journal": "The Journal of biological chemistry",
        "date": "1985-06-25",
        "authors": "Kytzia H J, Sandhoff K",
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    {
        "title": "Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy.",
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        "date": "1993-11",
        "authors": "Chen Y Q, Rafi M A, de Gala G, Wenger D A",
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            },
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                "taxid": 9606,
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        "abstract": "",
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    {
        "title": "Prosaposin deficiency: further characterization of the sphingolipid activator protein-deficient sibs. Multiple glycolipid elevations (including lactosylceramidosis), partial enzyme deficiencies and ultrastructure of the skin in this generalized sphingolipid storage disease.",
        "journal": "Human genetics",
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        "authors": "Bradov\u00e1 V, Sm\u00edd F, Ulrich-Bott B, Roggendorf W, Paton B C, Harzer K",
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                "name": "Homo sapiens",
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        "record_id": "pubmed.8573994",
        "abstract": "",
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    {
        "title": "Three-dimensional structure of the human 'protective protein': structure of the precursor form suggests a complex activation mechanism.",
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        "authors": "Rudenko G, Bonten E, d'Azzo A, Hol WG",
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    {
        "title": "Only sphingolipid activator protein B (SAP-B or saposin B) stimulates the degradation of globotriaosylceramide by recombinant human lysosomal alpha-galactosidase in a detergent-free liposomal system.",
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                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9H227-1",
                "protein_name": "Cytosolic beta-glucosidase",
                "gene_name": "GBA3",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P20645-1",
                "protein_name": "Cation-dependent mannose-6-phosphate receptor",
                "gene_name": "M6PR",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9NY59-1",
                "protein_name": "Sphingomyelin phosphodiesterase 3",
                "gene_name": "SMPD3",
                "tax_name": "Human"
            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q6UWV6",
                        "url": "https://www.uniprot.org/uniprotkb/Q6UWV6"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "snv": [
            {
                "evidence": [
                    {
                        "id": "rs387906315",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs387906315"
                    },
                    {
                        "id": "7789963",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/7789963"
                    },
                    {
                        "id": "8516282",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/8516282"
                    },
                    {
                        "id": "8889578",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/8889578"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 29,
                "end_pos": 29,
                "sequence_org": "L",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "1",
                "chr_pos": "155240661",
                "ref_nt": "p",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "L29",
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "disease": [
                    {
                        "disease_id": "DOID:0110960",
                        "recommended_name": {
                            "id": "DOID:0110960",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0110960",
                            "name": "Gaucher's disease perinatal lethal",
                            "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0110960",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110960",
                                "name": "Fetal Gaucher Disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110960",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110960",
                                "name": "Gaucher Disease, Collodion Type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011945",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011945",
                                "name": "Gaucher disease perinatal lethal",
                                "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)."
                            },
                            {
                                "id": "MONDO:0011945",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011945",
                                "name": "Gaucher disease collodion type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011945",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011945",
                                "name": "Gaucher disease perinatal lethal",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011945",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011945",
                                "name": "Gaucher disease, collodion type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011945",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011945",
                                "name": "Gaucher disease, perinatal lethal",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011945",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011945",
                                "name": "Gaucher disease, perinatal-lethal form",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011945",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011945",
                                "name": "Gaucher's disease perinatal lethal",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011945",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011945",
                                "name": "fetal Gaucher disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011945",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011945",
                                "name": "foetal Gaucher disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011945",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011945",
                                "name": "perinatal lethal Gaucher disease",
                                "description": ""
                            },
                            {
                                "id": "MIM:608013",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/608013",
                                "name": "Gaucher disease perinatal lethal",
                                "description": "Gaucher disease perinatal lethal"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "608013",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/608013"
                            },
                            {
                                "id": "0110960",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0110960"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0110957",
                        "recommended_name": {
                            "id": "DOID:0110957",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0110957",
                            "name": "Gaucher's disease type I",
                            "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0110957",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110957",
                                "name": "Acid Beta-Glucosidase Deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110957",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110957",
                                "name": "GD I",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110957",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110957",
                                "name": "Gaucher Disease, Noncerebral Juvenile",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110957",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110957",
                                "name": "Gba Deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110957",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110957",
                                "name": "Glucocerebrosidase Deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110957",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110957",
                                "name": "GD1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009265",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009265",
                                "name": "Gaucher disease type I",
                                "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia."
                            },
                            {
                                "id": "MONDO:0009265",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009265",
                                "name": "Gaucher disease type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009265",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009265",
                                "name": "Gaucher disease, noncerebral juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009265",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009265",
                                "name": "Gaucher's disease type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009265",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009265",
                                "name": "Gba deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009265",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009265",
                                "name": "acid Beta-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009265",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009265",
                                "name": "non-cerebral juvenile Gaucher disease",
                                "description": ""
                            },
                            {
                                "id": "MIM:230800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/230800",
                                "name": "Gaucher disease 1",
                                "description": "Gaucher disease 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0009265",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009265"
                            },
                            {
                                "id": "230800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/230800"
                            },
                            {
                                "id": "0110957",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0110957"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0110958",
                        "recommended_name": {
                            "id": "DOID:0110958",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0110958",
                            "name": "Gaucher's disease type II",
                            "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0110958",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110958",
                                "name": "GD II",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110958",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110958",
                                "name": "Gaucher Disease, Acute Neuronopathic Type",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110958",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110958",
                                "name": "Infantile Cerebral Gaucher Disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110958",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110958",
                                "name": "GD2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009266",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009266",
                                "name": "Gaucher disease type II",
                                "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2."
                            },
                            {
                                "id": "MONDO:0009266",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009266",
                                "name": "Gaucher disease type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009266",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009266",
                                "name": "Gaucher disease, acute neuronopathic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009266",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009266",
                                "name": "Gaucher's disease type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009266",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009266",
                                "name": "acute neuronopathic Gaucher disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009266",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009266",
                                "name": "infantile cerebral Gaucher disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009266",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009266",
                                "name": "Gaucher disease, infantile cerebral",
                                "description": ""
                            },
                            {
                                "id": "MIM:230900",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/230900",
                                "name": "Gaucher disease 2",
                                "description": "Gaucher disease 2"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0009266",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009266"
                            },
                            {
                                "id": "230900",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/230900"
                            },
                            {
                                "id": "0110958",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0110958"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0110959",
                        "recommended_name": {
                            "id": "DOID:0110959",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0110959",
                            "name": "Gaucher's disease type III",
                            "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0110959",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110959",
                                "name": "GD III",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110959",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110959",
                                "name": "Gaucher Disease, Chronic Neuronopathic Type",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110959",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110959",
                                "name": "Gaucher Disease, Juvenile And Adult, Cerebral",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110959",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110959",
                                "name": "Gaucher Disease, Subacute Neuronopathic Type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009267",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009267",
                                "name": "Gaucher disease type III",
                                "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1."
                            },
                            {
                                "id": "MONDO:0009267",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009267",
                                "name": "Gaucher disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009267",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009267",
                                "name": "Gaucher disease, Subacute neuronopathic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009267",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009267",
                                "name": "Gaucher disease, chronic neuronopathic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009267",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009267",
                                "name": "Gaucher disease, juvenile and adult, cerebral",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009267",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009267",
                                "name": "Gaucher disease, subacute neuronopathic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009267",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009267",
                                "name": "Gaucher's disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009267",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009267",
                                "name": "cerebral juvenile and adult form of Gaucher disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009267",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009267",
                                "name": "chronic neuronopathic Gaucher disease",
                                "description": ""
                            },
                            {
                                "id": "MIM:231000",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/231000",
                                "name": "Gaucher disease 3",
                                "description": "Gaucher disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0009267",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009267"
                            },
                            {
                                "id": "231000",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/231000"
                            },
                            {
                                "id": "0110959",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0110959"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0112250",
                        "recommended_name": {
                            "id": "DOID:0112250",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0112250",
                            "name": "Gaucher's disease type IIIC",
                            "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0112250",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0112250",
                                "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:0112250",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0112250",
                                "name": "GD3C",
                                "description": ""
                            },
                            {
                                "id": "DOID:0112250",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0112250",
                                "name": "Gaucher disease type 3C",
                                "description": ""
                            },
                            {
                                "id": "DOID:0112250",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0112250",
                                "name": "Gaucher-like disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:0112250",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0112250",
                                "name": "cardiovascular Gaucher disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009268",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009268",
                                "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome",
                                "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement."
                            },
                            {
                                "id": "MONDO:0009268",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009268",
                                "name": "Gaucher disease type 3C",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009268",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009268",
                                "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009268",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009268",
                                "name": "Gaucher-like disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009268",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009268",
                                "name": "cardiovascular Gaucher disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009268",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009268",
                                "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009268",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009268",
                                "name": "pseudo Gaucher disease",
                                "description": ""
                            },
                            {
                                "id": "MIM:231005",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/231005",
                                "name": "Gaucher disease 3C",
                                "description": "Gaucher disease 3C"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0009268",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009268"
                            },
                            {
                                "id": "231005",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/231005"
                            },
                            {
                                "id": "0112250",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0112250"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:12217",
                        "recommended_name": {
                            "id": "DOID:12217",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:12217",
                            "name": "Lewy body dementia",
                            "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:12217",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12217",
                                "name": "Dementia with Lewy bodies",
                                "description": ""
                            },
                            {
                                "id": "DOID:12217",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12217",
                                "name": "Diffuse Lewy body disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:12217",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12217",
                                "name": "Lewy body disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:12217",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12217",
                                "name": "Senile dementia of the Lewy body type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007488",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007488",
                                "name": "Lewy body dementia",
                                "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease."
                            },
                            {
                                "id": "MONDO:0007488",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007488",
                                "name": "DLB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007488",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007488",
                                "name": "Lewy body dementia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007488",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007488",
                                "name": "Lewy body disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007488",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007488",
                                "name": "cortical Lewy body disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007488",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007488",
                                "name": "dementia with Lewy bodies",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007488",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007488",
                                "name": "lewy body dementia, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007488",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007488",
                                "name": "dementia, Lewy body",
                                "description": ""
                            },
                            {
                                "id": "MIM:127750",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/127750",
                                "name": "Dementia, Lewy body",
                                "description": "Dementia, Lewy body"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "12217",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:12217"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0060892",
                        "recommended_name": {
                            "id": "DOID:0060892",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0060892",
                            "name": "late onset Parkinson's disease",
                            "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age."
                        },
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                            {
                                "id": "DOID:0060892",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060892",
                                "name": "late onset Parkinson disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008199",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008199",
                                "name": "late-onset Parkinson disease",
                                "description": "A Parkinson disease that begins after around the age of 50."
                            },
                            {
                                "id": "MONDO:0008199",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008199",
                                "name": "LOPD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008199",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008199",
                                "name": "PARK",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008199",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008199",
                                "name": "PD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008199",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008199",
                                "name": "Parkinson disease, age of onset, modifier, Multifactorial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008199",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008199",
                                "name": "Parkinson disease, late-onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008199",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008199",
                                "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008199",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008199",
                                "name": "Parkinson disease, susceptibility to, Multifactorial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008199",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008199",
                                "name": "autosomal dominant late-onset Parkinson disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008199",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008199",
                                "name": "hereditary late onset Parkinson disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008199",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008199",
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                            },
                            {
                                "id": "MONDO:0008199",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008199",
                                "name": "late-onset Parkinson disease",
                                "description": ""
                            },
                            {
                                "id": "MIM:168600",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/168600",
                                "name": "Parkinson disease",
                                "description": "Parkinson disease"
                            }
                        ],
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                            {
                                "id": "0060892",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0060892"
                            }
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                    },
                    {
                        "disease_id": "DOID:14330",
                        "recommended_name": {
                            "id": "DOID:14330",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:14330",
                            "name": "Parkinson's disease",
                            "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:14330",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14330",
                                "name": "Parkinson disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:14330",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14330",
                                "name": "paralysis agitans",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008199",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008199",
                                "name": "late-onset Parkinson disease",
                                "description": "A Parkinson disease that begins after around the age of 50."
                            },
                            {
                                "id": "MONDO:0008199",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008199",
                                "name": "LOPD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008199",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008199",
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                            {
                                "id": "MONDO:0008199",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008199",
                                "name": "Parkinson disease, age of onset, modifier, Multifactorial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008199",
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                            {
                                "id": "MONDO:0008199",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008199",
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                                "description": ""
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                            {
                                "id": "MONDO:0008199",
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                            {
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                                "resource": "MONDO",
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                            {
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                            {
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                            {
                                "id": "MIM:168600",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/168600",
                                "name": "Parkinson disease",
                                "description": "Parkinson disease"
                            }
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                            {
                                "id": "14330",
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                                "url": "https://www.alliancegenome.org/disease/DOID:14330"
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                            {
                                "id": "14330",
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    {
        "title": "Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease.",
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                "gene_name": "OPA3",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q5VT52-1",
                "protein_name": "Regulation of nuclear pre-mRNA domain-containing protein 2",
                "gene_name": "RPRD2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q13416-1",
                "protein_name": "Origin recognition complex subunit 2",
                "gene_name": "ORC2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P30622-3",
                "protein_name": "CAP-Gly domain-containing linker protein 1",
                "gene_name": "CLIP1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q5T655-1",
                "protein_name": "Cilia- and flagella-associated protein 58",
                "gene_name": "CFAP58",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9BS26-1",
                "protein_name": "Endoplasmic reticulum resident protein 44",
                "gene_name": "ERP44",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q7Z417-1",
                "protein_name": "FMR1-interacting protein NUFIP2",
                "gene_name": "NUFIP2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P51812-1",
                "protein_name": "Ribosomal protein S6 kinase alpha-3",
                "gene_name": "RPS6KA3",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P82279-1",
                "protein_name": "Protein crumbs homolog 1",
                "gene_name": "CRB1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9H147-1",
                "protein_name": "Deoxynucleotidyltransferase terminal-interacting protein 1",
                "gene_name": "DNTTIP1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9NTZ6-1",
                "protein_name": "RNA-binding protein 12",
                "gene_name": "RBM12",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q460N5-6",
                "protein_name": "Protein mono-ADP-ribosyltransferase PARP14",
                "gene_name": "PARP14",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9NRX1-1",
                "protein_name": "RNA-binding protein PNO1",
                "gene_name": "PNO1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q99666-1",
                "protein_name": "RANBP2-like and GRIP domain-containing protein 5/6",
                "gene_name": "RGPD5; RGPD6",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "O95487-1",
                "protein_name": "Protein transport protein Sec24B",
                "gene_name": "SEC24B",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P49588-1",
                "protein_name": "Alanine--tRNA ligase, cytoplasmic",
                "gene_name": "AARS1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q8WVD5-1",
                "protein_name": "RING finger protein 141",
                "gene_name": "RNF141",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P60880-1",
                "protein_name": "Synaptosomal-associated protein 25",
                "gene_name": "SNAP25",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P18583-1",
                "protein_name": "Protein SON",
                "gene_name": "SON",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9H9B4-1",
                "protein_name": "Sideroflexin-1",
                "gene_name": "SFXN1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P34810-1",
                "protein_name": "Macrosialin",
                "gene_name": "CD68",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9BW62-1",
                "protein_name": "Katanin p60 ATPase-containing subunit A-like 1",
                "gene_name": "KATNAL1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9BTC0-4",
                "protein_name": "Death-inducer obliterator 1",
                "gene_name": "DIDO1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q8NF91-1",
                "protein_name": "Nesprin-1",
                "gene_name": "SYNE1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9NPF5-1",
                "protein_name": "DNA methyltransferase 1-associated protein 1",
                "gene_name": "DMAP1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "O00154-1",
                "protein_name": "Cytosolic acyl coenzyme A thioester hydrolase",
                "gene_name": "ACOT7",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P54652-1",
                "protein_name": "Heat shock-related 70 kDa protein 2",
                "gene_name": "HSPA2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9UMS0-1",
                "protein_name": "NFU1 iron-sulfur cluster scaffold homolog, mitochondrial",
                "gene_name": "NFU1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9UBN7-1",
                "protein_name": "Protein deacetylase HDAC6",
                "gene_name": "HDAC6",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "O15371-1",
                "protein_name": "Eukaryotic translation initiation factor 3 subunit D",
                "gene_name": "EIF3D",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q7Z589-1",
                "protein_name": "BRCA2-interacting transcriptional repressor EMSY",
                "gene_name": "EMSY",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P07602-1",
                "protein_name": "Prosaposin",
                "gene_name": "PSAP",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q92903-1",
                "protein_name": "Phosphatidate cytidylyltransferase 1",
                "gene_name": "CDS1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9UHR5-1",
                "protein_name": "SAP30-binding protein",
                "gene_name": "SAP30BP",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P09012-1",
                "protein_name": "U1 small nuclear ribonucleoprotein A",
                "gene_name": "SNRPA",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q86W92-1",
                "protein_name": "Liprin-beta-1",
                "gene_name": "PPFIBP1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "O75449-1",
                "protein_name": "Katanin p60 ATPase-containing subunit A1",
                "gene_name": "KATNA1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P11279-1",
                "protein_name": "Lysosome-associated membrane glycoprotein 1",
                "gene_name": "LAMP1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P10911-1",
                "protein_name": "Proto-oncogene DBL",
                "gene_name": "MCF2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P51511-1",
                "protein_name": "Matrix metalloproteinase-15",
                "gene_name": "MMP15",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9NZH7-1",
                "protein_name": "Interleukin-36 beta",
                "gene_name": "IL36B",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q13492-1",
                "protein_name": "Phosphatidylinositol-binding clathrin assembly protein",
                "gene_name": "PICALM",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9H4I2-1",
                "protein_name": "Zinc fingers and homeoboxes protein 3",
                "gene_name": "ZHX3",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q13823-1",
                "protein_name": "Nucleolar GTP-binding protein 2",
                "gene_name": "GNL2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q5TYX0-1",
                "protein_name": "PRAME family member 5",
                "gene_name": "PRAMEF5",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9BUL9-1",
                "protein_name": "Ribonuclease P protein subunit p25",
                "gene_name": "RPP25",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9NUM4-1",
                "protein_name": "Transmembrane protein 106B",
                "gene_name": "TMEM106B",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q68DQ2-3",
                "protein_name": "Very large A-kinase anchor protein",
                "gene_name": "CRYBG3",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q16787-2",
                "protein_name": "Laminin subunit alpha-3",
                "gene_name": "LAMA3",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P13473-1",
                "protein_name": "Lysosome-associated membrane glycoprotein 2",
                "gene_name": "LAMP2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q14139-1",
                "protein_name": "Ubiquitin conjugation factor E4 A",
                "gene_name": "UBE4A",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q8NDW8-1",
                "protein_name": "Tetratricopeptide repeat protein 21A",
                "gene_name": "TTC21A",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q5T7P6-1",
                "protein_name": "Transmembrane protein 78",
                "gene_name": "TMEM78",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q5VTE0-1",
                "protein_name": "Putative elongation factor 1-alpha-like 3",
                "gene_name": "EEF1A1P5",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P22392-1",
                "protein_name": "Nucleoside diphosphate kinase B",
                "gene_name": "NME1-NME2; NME2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q8NBA8-1",
                "protein_name": "tRNA-uridine aminocarboxypropyltransferase 2",
                "gene_name": "DTWD2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q15006-1",
                "protein_name": "ER membrane protein complex subunit 2",
                "gene_name": "EMC2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q00610-1",
                "protein_name": "Clathrin heavy chain 1",
                "gene_name": "CLTC",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P08670-1",
                "protein_name": "Vimentin",
                "gene_name": "VIM",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q86UR5-1",
                "protein_name": "Regulating synaptic membrane exocytosis protein 1",
                "gene_name": "RIMS1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P68032-1",
                "protein_name": "Actin, alpha cardiac muscle 1",
                "gene_name": "ACTC1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P02545-1",
                "protein_name": "Prelamin-A/C",
                "gene_name": "LMNA",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9UHD9-1",
                "protein_name": "Ubiquilin-2",
                "gene_name": "UBQLN2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P11142-1",
                "protein_name": "Heat shock cognate 71 kDa protein",
                "gene_name": "HSPA8",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9Y4H2-1",
                "protein_name": "Insulin receptor substrate 2",
                "gene_name": "IRS2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P68104-1",
                "protein_name": "Elongation factor 1-alpha 1",
                "gene_name": "EEF1A1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P61163-1",
                "protein_name": "Alpha-centractin",
                "gene_name": "ACTR1A",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q05639-1",
                "protein_name": "Elongation factor 1-alpha 2",
                "gene_name": "EEF1A2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "O75179-1",
                "protein_name": "Ankyrin repeat domain-containing protein 17",
                "gene_name": "ANKRD17",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P23109-1",
                "protein_name": "AMP deaminase 1",
                "gene_name": "AMPD1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q14114-1",
                "protein_name": "Low-density lipoprotein receptor-related protein 8",
                "gene_name": "LRP8",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P23526-1",
                "protein_name": "Adenosylhomocysteinase",
                "gene_name": "AHCY",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P06396-1",
                "protein_name": "Gelsolin",
                "gene_name": "GSN",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P05556-1",
                "protein_name": "Integrin beta-1",
                "gene_name": "ITGB1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q8NDV7-1",
                "protein_name": "Trinucleotide repeat-containing gene 6A protein",
                "gene_name": "TNRC6A",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "A5YKK6-1",
                "protein_name": "CCR4-NOT transcription complex subunit 1",
                "gene_name": "CNOT1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9NZN8-1",
                "protein_name": "CCR4-NOT transcription complex subunit 2",
                "gene_name": "CNOT2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9P2I0-1",
                "protein_name": "Cleavage and polyadenylation specificity factor subunit 2",
                "gene_name": "CPSF2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P20815-1",
                "protein_name": "Cytochrome P450 3A5",
                "gene_name": "CYP3A5",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P49790-1",
                "protein_name": "Nuclear pore complex protein Nup153",
                "gene_name": "NUP153",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q8NBI6-1",
                "protein_name": "Xyloside xylosyltransferase 1",
                "gene_name": "XXYLT1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q96BD5-1",
                "protein_name": "PHD finger protein 21A",
                "gene_name": "PHF21A",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P49792-1",
                "protein_name": "E3 SUMO-protein ligase RanBP2",
                "gene_name": "RANBP2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P32969-1",
                "protein_name": "Large ribosomal subunit protein uL6",
                "gene_name": "RPL9P7; RPL9P8; RPL9P9; RPL9",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P10809-1",
                "protein_name": "60 kDa heat shock protein, mitochondrial",
                "gene_name": "HSPD1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q12830-1",
                "protein_name": "Nucleosome-remodeling factor subunit BPTF",
                "gene_name": "BPTF",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9GZR5-1",
                "protein_name": "Very long chain fatty acid elongase 4",
                "gene_name": "ELOVL4",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q86TC9-1",
                "protein_name": "Myopalladin",
                "gene_name": "MYPN",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9H9J4-1",
                "protein_name": "Ubiquitin carboxyl-terminal hydrolase 42",
                "gene_name": "USP42",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q96C36-1",
                "protein_name": "Pyrroline-5-carboxylate reductase 2",
                "gene_name": "PYCR2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q5XPI4-1",
                "protein_name": "E3 ubiquitin-protein ligase RNF123",
                "gene_name": "RNF123",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q8IUD2-1",
                "protein_name": "ELKS/Rab6-interacting/CAST family member 1",
                "gene_name": "ERC1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q7Z6M1-1",
                "protein_name": "Rab9 effector protein with kelch motifs",
                "gene_name": "RABEPK",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P35241-1",
                "protein_name": "Radixin",
                "gene_name": "RDX",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q7Z6J0-1",
                "protein_name": "E3 ubiquitin-protein ligase SH3RF1",
                "gene_name": "SH3RF1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q04837-1",
                "protein_name": "Single-stranded DNA-binding protein, mitochondrial",
                "gene_name": "SSBP1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P35712-1",
                "protein_name": "Transcription factor SOX-6",
                "gene_name": "SOX6",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q14157-2",
                "protein_name": "Ubiquitin-associated protein 2-like",
                "gene_name": "UBAP2L",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P07478-1",
                "protein_name": "Trypsin-2",
                "gene_name": "PRSS2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q3SXZ3-1",
                "protein_name": "Zinc finger protein 718",
                "gene_name": "ZNF718",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9UKD1-1",
                "protein_name": "Glucocorticoid modulatory element-binding protein 2",
                "gene_name": "GMEB2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P15311-1",
                "protein_name": "Ezrin",
                "gene_name": "EZR",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9NYV4-1",
                "protein_name": "Cyclin-dependent kinase 12",
                "gene_name": "CDK12",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q8N4C6-1",
                "protein_name": "Ninein",
                "gene_name": "NIN",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "O14974-1",
                "protein_name": "Protein phosphatase 1 regulatory subunit 12A",
                "gene_name": "PPP1R12A",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9UI36-1",
                "protein_name": "Dachshund homolog 1",
                "gene_name": "DACH1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q13474-1",
                "protein_name": "Dystrophin-related protein 2",
                "gene_name": "DRP2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9Y6I3-2",
                "protein_name": "Epsin-1",
                "gene_name": "EPN1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q0VG06-1",
                "protein_name": "Fanconi anemia core complex-associated protein 100",
                "gene_name": "FAAP100",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "O95486-1",
                "protein_name": "Protein transport protein Sec24A",
                "gene_name": "SEC24A",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9BTK6-1",
                "protein_name": "PAXIP1-associated glutamate-rich protein 1",
                "gene_name": "PAGR1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P14314-1",
                "protein_name": "Glucosidase 2 subunit beta",
                "gene_name": "PRKCSH",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9UBQ7-1",
                "protein_name": "Glyoxylate reductase/hydroxypyruvate reductase",
                "gene_name": "GRHPR",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q06033-1",
                "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H3",
                "gene_name": "ITIH3",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P12270-1",
                "protein_name": "Nucleoprotein TPR",
                "gene_name": "TPR",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q3V5L5-1",
                "protein_name": "Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B",
                "gene_name": "MGAT5B",
                "tax_name": "Human"
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