{
    "disease_id": "DOID:0061140",
    "recommended_name": {
        "id": "DOID:0061140",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061140",
        "name": "ragopathy",
        "description": "A syndrome that has_material_basis_in mutations in heterodimeric Ras-related small GTP-binding proteins (Rag-GTPases), which bind mTORC1 in an amino acid-dependent manner and serve as crucial regulators of its kinase activity towards various substrates."
    },
    "synonyms": [],
    "children": [],
    "id_list": [
        "DOID:0061140"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061140",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061140",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q80X95-1",
            "uniprot_ac": "Q80X95",
            "uniprot_id": "RRAGA_MOUSE",
            "refseq_ac": "NP_848463",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related GTP-binding protein A",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "Rag A",
                    "type": "synonym"
                },
                {
                    "name": "RagA",
                    "type": "synonym"
                },
                {
                    "name": "rag A",
                    "type": "synonym"
                },
                {
                    "name": "ras-related GTP-binding protein A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rraga",
                    "type": "recommended"
                },
                {
                    "name": "1300010C19Rik",
                    "type": "synonym"
                },
                {
                    "name": "FIP-1",
                    "type": "synonym"
                },
                {
                    "name": "RAGA",
                    "type": "synonym"
                },
                {
                    "name": "Rraga",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80X95-1",
            "evidence": [
                {
                    "id": "0061140",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061140"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6NTA4-1",
            "uniprot_ac": "Q6NTA4",
            "uniprot_id": "RRAGB_MOUSE",
            "refseq_ac": "NP_001004154",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related GTP-binding protein B",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "Rag B",
                    "type": "synonym"
                },
                {
                    "name": "RagB",
                    "type": "synonym"
                },
                {
                    "name": "rag B",
                    "type": "synonym"
                },
                {
                    "name": "ragB",
                    "type": "synonym"
                },
                {
                    "name": "ras-related GTP-binding protein B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rragb",
                    "type": "recommended"
                },
                {
                    "name": "Rragb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NTA4-1",
            "evidence": [
                {
                    "id": "0061140",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061140"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00582-1",
            "uniprot_ac": "Q00582",
            "uniprot_id": "RAGAB_YEAST",
            "refseq_ac": "NP_013585",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "GTP-binding protein GTR1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "Rag GTPase GTR1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GTR1",
                    "type": "recommended"
                },
                {
                    "name": "GTR1",
                    "type": "synonym"
                },
                {
                    "name": "YM7056.05",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00582-1",
            "evidence": [
                {
                    "id": "0061140",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061140"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63486-1",
            "uniprot_ac": "Q63486",
            "uniprot_id": "RRAGA_RAT",
            "refseq_ac": "NP_446425",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related GTP-binding protein A",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "Rag A",
                    "type": "synonym"
                },
                {
                    "name": "RagA",
                    "type": "synonym"
                },
                {
                    "name": "Ras-related GTP-binding protein ragA",
                    "type": "synonym"
                },
                {
                    "name": "rag A",
                    "type": "synonym"
                },
                {
                    "name": "ras-related GTP-binding protein A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rraga",
                    "type": "recommended"
                },
                {
                    "name": "Raga",
                    "type": "synonym"
                },
                {
                    "name": "Rraga",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63486-1",
            "evidence": [
                {
                    "id": "0061140",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061140"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63487-1",
            "uniprot_ac": "Q63487",
            "uniprot_id": "RRAGB_RAT",
            "refseq_ac": "NP_446424",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related GTP-binding protein B",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "GTP-binding protein ragB",
                    "type": "synonym"
                },
                {
                    "name": "Rag B",
                    "type": "synonym"
                },
                {
                    "name": "RagB",
                    "type": "synonym"
                },
                {
                    "name": "rag B",
                    "type": "synonym"
                },
                {
                    "name": "ras-related GTP-binding protein B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RragB",
                    "type": "recommended"
                },
                {
                    "name": "Rragb",
                    "type": "recommended"
                },
                {
                    "name": "Ragb",
                    "type": "synonym"
                },
                {
                    "name": "RragB",
                    "type": "synonym"
                },
                {
                    "name": "Rragb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63487-1",
            "evidence": [
                {
                    "id": "0061140",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061140"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VHJ4-1",
            "uniprot_ac": "Q9VHJ4",
            "uniprot_id": "Q9VHJ4_DROME",
            "refseq_ac": "NP_649850",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG11968-PA",
                    "type": "synonym"
                },
                {
                    "name": "RagA-B-PA",
                    "type": "synonym"
                },
                {
                    "name": "Ras-related GTP binding A/B ortholog",
                    "type": "synonym"
                },
                {
                    "name": "Ras-related GTP binding A/B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RagA-B",
                    "type": "recommended"
                },
                {
                    "name": "B",
                    "type": "synonym"
                },
                {
                    "name": "CG11968",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11968",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11968",
                    "type": "synonym"
                },
                {
                    "name": "Gtr1",
                    "type": "synonym"
                },
                {
                    "name": "Rag A-B",
                    "type": "synonym"
                },
                {
                    "name": "Rag A",
                    "type": "synonym"
                },
                {
                    "name": "RagA-B",
                    "type": "synonym"
                },
                {
                    "name": "RagA/B",
                    "type": "synonym"
                },
                {
                    "name": "RagAB",
                    "type": "synonym"
                },
                {
                    "name": "RagA",
                    "type": "synonym"
                },
                {
                    "name": "Rag",
                    "type": "synonym"
                },
                {
                    "name": "dRagA",
                    "type": "synonym"
                },
                {
                    "name": "dRagB",
                    "type": "synonym"
                },
                {
                    "name": "ragA",
                    "type": "synonym"
                },
                {
                    "name": "rag",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VHJ4-1",
            "evidence": [
                {
                    "id": "0061140",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061140"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5VZM2-1",
            "uniprot_ac": "Q5VZM2",
            "uniprot_id": "RRAGB_HUMAN",
            "refseq_ac": "NP_006055",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related GTP-binding protein B",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "GTP-binding protein ragB",
                    "type": "synonym"
                },
                {
                    "name": "Rag B",
                    "type": "synonym"
                },
                {
                    "name": "RagB",
                    "type": "synonym"
                },
                {
                    "name": "rag B",
                    "type": "synonym"
                },
                {
                    "name": "ras-related GTP-binding protein B short isoform",
                    "type": "synonym"
                },
                {
                    "name": "ras-related GTP-binding protein B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RRAGB",
                    "type": "recommended"
                },
                {
                    "name": "RAGB",
                    "type": "synonym"
                },
                {
                    "name": "RRAGB",
                    "type": "synonym"
                },
                {
                    "name": "bA465E19.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5VZM2-1",
            "evidence": [
                {
                    "id": "0061140",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061140"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7L523-1",
            "uniprot_ac": "Q7L523",
            "uniprot_id": "RRAGA_HUMAN",
            "refseq_ac": "NP_006561",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related GTP-binding protein A",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "Adenovirus E3 14.7 kDa-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "FIP-1",
                    "type": "synonym"
                },
                {
                    "name": "Rag A",
                    "type": "synonym"
                },
                {
                    "name": "RagA",
                    "type": "synonym"
                },
                {
                    "name": "adenovirus E3 14.7 kDa-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "adenovirus E3-14.7K interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "rag A",
                    "type": "synonym"
                },
                {
                    "name": "ras-related GTP-binding protein A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RRAGA",
                    "type": "recommended"
                },
                {
                    "name": "FIP-1",
                    "type": "synonym"
                },
                {
                    "name": "FIP1",
                    "type": "synonym"
                },
                {
                    "name": "RAGA",
                    "type": "synonym"
                },
                {
                    "name": "RRAGA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7L523-1",
            "evidence": [
                {
                    "id": "0061140",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061140"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061140"
}