{
    "disease_id": "DOID:0080078",
    "recommended_name": {
        "id": "DOID:0080078",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080078",
        "name": "hypophosphatemic nephrolithiasis/osteoporosis 2",
        "description": "A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC9A3R1 gene on chromosome 17q25.1."
    },
    "synonyms": [
        {
            "id": "MONDO:0012851",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012851",
            "name": "hypophosphatemic nephrolithiasis/osteoporosis 2",
            "description": ""
        },
        {
            "id": "MONDO:0012851",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012851",
            "name": "hypophosphatemic nephrolithiasis/osteoporosis type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012851",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012851",
            "name": "nephrolithiasis/osteoporosis, hypophosphatemic, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012851",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012851",
            "name": "NPHLOP2",
            "description": ""
        },
        {
            "id": "MONDO:0012851",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012851",
            "name": "nephrolithiasis/osteoporosis, hypophosphatemic, 2",
            "description": ""
        },
        {
            "id": "MIM:612287",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612287",
            "name": "Nephrolithiasis/osteoporosis, hypophosphatemic, 2",
            "description": "Nephrolithiasis/osteoporosis, hypophosphatemic, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080078"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080078",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080078",
            "categories": []
        },
        {
            "id": "MONDO:0012851",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012851",
            "categories": []
        },
        {
            "id": "MIM:612287",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612287",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BLP8-1",
            "uniprot_ac": "A0A8M2BLP8",
            "uniprot_id": "A0A8M2BLP8_DANRE",
            "refseq_ac": "XP_005174596",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Na(+)/H(+) exchange regulatory cofactor NHE-RF",
                    "type": "recommended"
                },
                {
                    "name": "Na(+)/H(+) exchange regulatory cofactor NHE-RF1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "nherf1b",
                    "type": "recommended"
                },
                {
                    "name": "nherf1b",
                    "type": "synonym"
                }
            ],
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080078"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70441-1",
            "uniprot_ac": "P70441",
            "uniprot_id": "NHRF1_MOUSE",
            "refseq_ac": "NP_036160",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Na(+)/H(+) exchange regulatory cofactor NHE-RF1",
                    "type": "recommended"
                },
                {
                    "name": "EBP50",
                    "type": "synonym"
                },
                {
                    "name": "Ezrin-radixin-moesin-binding phosphoprotein 50",
                    "type": "synonym"
                },
                {
                    "name": "NHERF-1",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/H(+) exchange regulatory cofactor NHE-RF1",
                    "type": "synonym"
                },
                {
                    "name": "Regulatory cofactor of Na(+)/H(+) exchanger",
                    "type": "synonym"
                },
                {
                    "name": "Sodium-hydrogen exchanger regulatory factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 9 isoform A3 regulatory factor 1",
                    "type": "synonym"
                },
                {
                    "name": "ezrin-radixin-moesin-binding phosphoprotein 50",
                    "type": "synonym"
                },
                {
                    "name": "regulatory cofactor of Na(+)/H(+) exchanger",
                    "type": "synonym"
                },
                {
                    "name": "sodium-hydrogen exchanger regulatory factor 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1",
                    "type": "synonym"
                }
            ],
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                    "type": "recommended"
                },
                {
                    "name": "EBP-50",
                    "type": "synonym"
                },
                {
                    "name": "NHE-RF",
                    "type": "synonym"
                },
                {
                    "name": "NHERF-1",
                    "type": "synonym"
                },
                {
                    "name": "Nherf1",
                    "type": "synonym"
                },
                {
                    "name": "Nherf",
                    "type": "synonym"
                },
                {
                    "name": "Slc9a3r1",
                    "type": "synonym"
                }
            ],
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080078"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JIL4-1",
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                {
                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Na(+)/H(+) exchange regulatory cofactor NHE-RF3",
                    "type": "recommended"
                },
                {
                    "name": "CFTR-associated protein of 70 kDa",
                    "type": "synonym"
                },
                {
                    "name": "NHERF-3",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/H(+) exchange regulatory cofactor NHE-RF3",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/H(+) exchanger regulatory factor 3",
                    "type": "synonym"
                },
                {
                    "name": "Na/Pi cotransporter C-terminal-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "NaPi-Cap1",
                    "type": "synonym"
                },
                {
                    "name": "PDZ domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Sodium-hydrogen exchanger regulatory factor 3",
                    "type": "synonym"
                },
                {
                    "name": "na/Pi cotransporter C-terminal-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "sodium-hydrogen exchanger regulatory factor 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pdzk1",
                    "type": "recommended"
                },
                {
                    "name": "1700023D20Rik",
                    "type": "synonym"
                },
                {
                    "name": "2610507N21Rik",
                    "type": "synonym"
                },
                {
                    "name": "4921513F16Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cap70",
                    "type": "synonym"
                },
                {
                    "name": "D3Ertd537e",
                    "type": "synonym"
                },
                {
                    "name": "NHERF-3",
                    "type": "synonym"
                },
                {
                    "name": "Nherf3",
                    "type": "synonym"
                },
                {
                    "name": "Pdzd1",
                    "type": "synonym"
                },
                {
                    "name": "Pdzk1",
                    "type": "synonym"
                },
                {
                    "name": "mPDZK1",
                    "type": "synonym"
                },
                {
                    "name": "naPi-Cap1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JIL4-1",
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                {
                    "id": "0080078",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080078"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99MJ6-1",
            "uniprot_ac": "Q99MJ6",
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            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Na(+)/H(+) exchange regulatory cofactor NHE-RF4",
                    "type": "recommended"
                },
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                    "name": "NHERF-4",
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                },
                {
                    "name": "Na(+)/H(+) exchange regulatory cofactor NHE-RF4",
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                },
                {
                    "name": "Na/Pi cotransporter C-terminal-associated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "NaPi-Cap2",
                    "type": "synonym"
                },
                {
                    "name": "Natrium-phosphate cotransporter IIa C-terminal-associated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "PDZ domain containing 2",
                    "type": "synonym"
                },
                {
                    "name": "PDZ domain containing 3",
                    "type": "synonym"
                },
                {
                    "name": "PDZ domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "PDZ domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Sodium-hydrogen exchanger regulatory factor 4",
                    "type": "synonym"
                },
                {
                    "name": "na/Pi cotransporter C-terminal-associated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "natrium-phosphate cotransporter IIa C-terminal-associated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "sodium-hydrogen exchanger regulatory factor 4",
                    "type": "synonym"
                },
                {
                    "name": "sodium-phosphate cotransporter IIa C-terminal-associated protein 2",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Nherf4",
                    "type": "recommended"
                },
                {
                    "name": "NaPi-Cap2",
                    "type": "synonym"
                },
                {
                    "name": "Nherf4",
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                },
                {
                    "name": "Pdzd3",
                    "type": "synonym"
                },
                {
                    "name": "Pdzk2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99MJ6-1",
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                {
                    "id": "0080078",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080078"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JHL1-1",
            "uniprot_ac": "Q9JHL1",
            "uniprot_id": "NHRF2_MOUSE",
            "refseq_ac": "NP_075542",
            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Na(+)/H(+) exchange regulatory cofactor NHE-RF2",
                    "type": "recommended"
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                    "name": "NHE3 kinase A regulatory protein E3KARP",
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                },
                {
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                },
                {
                    "name": "Na(+)/H(+) exchange regulatory cofactor NHE-RF2 isoform A",
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                {
                    "name": "Na(+)/H(+) exchange regulatory cofactor NHE-RF2",
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                {
                    "name": "Octs2",
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                {
                    "name": "SIP-1",
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                },
                {
                    "name": "SRY-interacting protein 1",
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                },
                {
                    "name": "Sodium-hydrogen exchanger regulatory factor 2",
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                },
                {
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                {
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                },
                {
                    "name": "Tyrosine kinase activator protein 1",
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                {
                    "name": "sodium-hydrogen exchanger regulatory factor 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2",
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                {
                    "name": "tyrosine kinase activator protein 1",
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                }
            ],
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                    "name": "Nherf2",
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                {
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                    "type": "synonym"
                },
                {
                    "name": "2010007A20Rik",
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                {
                    "name": "Nherf2",
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                {
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                {
                    "name": "Sip1",
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                {
                    "name": "Slc9a3r2",
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                },
                {
                    "name": "Sryip1",
                    "type": "synonym"
                },
                {
                    "name": "Tka-1",
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                }
            ],
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                    "id": "0080078",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080078"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14745-1",
            "uniprot_ac": "O14745",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
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                {
                    "name": "Na(+)/H(+) exchange regulatory cofactor 1",
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                },
                {
                    "name": "Na(+)/H(+) exchange regulatory cofactor NHE-RF1",
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                },
                {
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                {
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                    "type": "synonym"
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                {
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                {
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                    "name": "regulatory cofactor of Na(+)/H(+) exchanger",
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                {
                    "name": "SLC9A3R1",
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                }
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                    "id": "612287",
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                },
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                    "id": "0080078",
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                }
            ]
        },
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            "uniprot_canonical_ac": "Q9JJ19-1",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "ERM-binding phosphoprotein",
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                },
                {
                    "name": "Na(+)/H(+) exchange regulatory cofactor NHE-RF1",
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                },
                {
                    "name": "Regulatory cofactor of Na(+)/H(+) exchanger",
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                },
                {
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                {
                    "name": "Sodium-hydrogen exchanger regulatory factor 1",
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                {
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                },
                {
                    "name": "ezrin-radixin-moesin-binding phosphoprotein 50",
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                {
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                {
                    "name": "sodium-hydrogen exchanger regulatory factor 1",
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                },
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                    "name": "solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1",
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                {
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                    "name": "Nherf1",
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                },
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                    "name": "Nherf",
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                {
                    "name": "Slc9a3r1",
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                }
            ],
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                {
                    "id": "0080078",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080078"
                }
            ]
        },
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            "uniprot_canonical_ac": "A0ABK0M3S3-1",
            "uniprot_ac": "A0ABK0M3S3",
            "uniprot_id": "A0ABK0M3S3_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Na(+)/H(+) exchange regulatory cofactor NHE-RF4",
                    "type": "recommended"
                },
                {
                    "name": "Natrium-phosphate cotransporter IIa C-terminal-associated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "PDZ domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "PDZ domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Sodium-hydrogen exchanger regulatory factor 4",
                    "type": "synonym"
                }
            ],
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                    "name": "Nherf4",
                    "type": "recommended"
                },
                {
                    "name": "Pdzd3",
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                }
            ],
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            "evidence": [
                {
                    "id": "0080078",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080078"
                }
            ]
        },
        {
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                }
            ],
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                    "name": "NHE3 kinase A regulatory protein E3KARP",
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                    "name": "SRY-interacting protein 1",
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                    "name": "Sodium-hydrogen exchanger regulatory factor 2",
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                    "name": "TKA-1",
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                {
                    "name": "Tyrosine kinase activator protein 1",
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                    "name": "sodium-hydrogen exchanger regulatory factor 2",
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                {
                    "name": "solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2",
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                {
                    "name": "tyrosine kinase activator protein 1",
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            ],
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                    "name": "Nherf2",
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                    "name": "E3karp",
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                },
                {
                    "name": "Nherf2",
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                },
                {
                    "name": "Slc9a3r2",
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                }
            ],
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                    "id": "0080078",
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                    "name": "Dietary Pi-regulated RNA-1",
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                    "name": "Diphor1",
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                {
                    "name": "Nherf3",
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                {
                    "name": "Pdzk1",
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                    "id": "0080078",
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                }
            ],
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                {
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                    "name": "Homo sapiens",
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                }
            ],
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                {
                    "name": "Putative PDZ domain-containing protein PDZK1P1",
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                    "name": "PDZ domain-containing 1 pseudogene 1",
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                {
                    "name": "PDZ domain-containing 1 pseudogene 2",
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                }
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                    "name": "PDZK1P1",
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                    "id": "0080078",
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080078"
}