{
    "disease_id": "DOID:0081002",
    "recommended_name": {
        "id": "DOID:0081002",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0081002",
        "name": "Cowden syndrome 6",
        "description": "A Cowden syndrome that has_material_basis_in heterozygous mutation in the AKT1 gene on chromosome 14q32.3."
    },
    "synonyms": [
        {
            "id": "DOID:0081002",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0081002",
            "name": "CWS6",
            "description": ""
        },
        {
            "id": "MONDO:0014048",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014048",
            "name": "Cowden syndrome 6",
            "description": "Any Cowden disease in which the cause of the disease is a mutation in the AKT1 gene."
        },
        {
            "id": "MONDO:0014048",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014048",
            "name": "AKT1 Cowden disease",
            "description": ""
        },
        {
            "id": "MONDO:0014048",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014048",
            "name": "Cowden disease caused by mutation in AKT1",
            "description": ""
        },
        {
            "id": "MONDO:0014048",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014048",
            "name": "Cowden syndrome 6",
            "description": ""
        },
        {
            "id": "MONDO:0014048",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014048",
            "name": "Cowden syndrome type 6",
            "description": ""
        },
        {
            "id": "MONDO:0014048",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014048",
            "name": "CWS6",
            "description": ""
        },
        {
            "id": "MIM:615109",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615109",
            "name": "Cowden syndrome 6",
            "description": "Cowden syndrome 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081002"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081002",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0081002",
            "categories": []
        },
        {
            "id": "MONDO:0014048",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014048",
            "categories": []
        },
        {
            "id": "MIM:615109",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615109",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8INB9-1",
            "uniprot_ac": "Q8INB9",
            "uniprot_id": "AKT1_DROME",
            "refseq_ac": "NP_001287353",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "RAC serine/threonine-protein kinase",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Akt kinase, isoform D",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CG4006-PD; Akt-PD; RAC serine/threonine protein kinase; related to the A and C kinases; related to PKA to PKC protein kinases; Akt1; protein kinase B; dAkt kinase",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "DAkt",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "DRAC-PK",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dakt1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PKB",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase B",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Akt",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "AKT-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "AKT1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "AKT",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Akt-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Akt1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Akt",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Akt",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG4006",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "D-Akt",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "DAKT1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "DAKT",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "DAkt1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "DAkt",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "DPKB",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "DRAC-PK66",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "DRAC-PK85",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "DRAC-PK",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dakt1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dakt",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dkat1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4006",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4006",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dpkb",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "P-AKT",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "P-Akt",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PBB",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PKB",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RAC",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RacPK",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "akt1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "akt; AKT; Akt-1; AKT-1; Akt/PKB; AKT/PKB; akt1; Akt1; AKT1; CG4006; D-Akt; dakt; dAkt; dAKT; Dakt; DAkt; DAKT; dAKT/dPKB; dAkt/PKB; dakt1; dAkt1; dAKT1; Dakt1; DAkt1; DAKT1; DAKT1/PKB; Dkat1; Dmel\\CG4006; dPKB; Dpkb; DPKB; DRAC-PK; DRAC-PK66; DRAC-PK85; l(3)04226; l(3)89Bq; p-Akt; P-Akt; P-AKT; pAkt; PBB; PKB; PKB/Akt; PKB/AKT; PKB/dAKT; RAC; RacPK",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "akt",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "dAKT1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "dAKT",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "dAkt1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "dAkt",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "dPKB",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "dakt1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "dakt",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "l(3)04226",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "l(3)89Bq",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "p-Akt",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "pAkt",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0081002",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081002"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P31750-1",
            "uniprot_ac": "P31750",
            "uniprot_id": "AKT1_MOUSE",
            "refseq_ac": "NP_001159366",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "RAC-alpha serine/threonine-protein kinase",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "AKT1 kinase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PKB alpha",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PKB",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase B alpha",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase B",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Proto-oncogene c-Akt",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RAC-PK-alpha",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RAC-alpha serine/threonine-protein kinase isoform 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Thymoma viral proto-oncogene",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase B-alpha; RAC-alpha serine/threonine-protein kinase; PKB alpha; Akt1m protein; related to A and C kinases; AKT1 kinase; RAC-PK-alpha; proto-oncogene c-AKT; tumor rejection antigen peptide pRLib",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Akt1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Akt1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Akt; LTR-akt; PKB; PKB/Akt; PKBalpha; Rac",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Akt",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Rac",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0081002",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081002"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11792-1",
            "uniprot_ac": "P11792",
            "uniprot_id": "SCH9_YEAST",
            "refseq_ac": "NP_012075",
            "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": "Serine/threonine-protein kinase SCH9",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine protein kinase SCH9",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SCH9",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "HRM2; KOM1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "KOM1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "SCH9",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0081002",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081002"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P31749-1",
            "uniprot_ac": "P31749",
            "uniprot_id": "AKT1_HUMAN",
            "refseq_ac": "NP_001014431",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "RAC-alpha serine/threonine-protein kinase",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PKB alpha",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PKB",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase B alpha",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase B",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Proto-oncogene c-Akt",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RAC-PK-alpha",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RAC-alpha serine/threonine-protein kinase",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "rac protein kinase alpha; RAC-PK-alpha; proto-oncogene c-Akt; PKB alpha; protein kinase B alpha; AKT1m; v-akt murine thymoma viral oncogene homolog 1; v-akt murine thymoma viral oncogene-like protein 1; serine-threonine protein kinase",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AKT1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "AKT1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "AKT; PKB; PKB-ALPHA; PRKBA; RAC; RAC-ALPHA",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "PKB",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RAC",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0081002",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081002"
                },
                {
                    "id": "615109",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615109"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M4MD44-1",
            "uniprot_ac": "M4MD44",
            "uniprot_id": "M4MD44_DANRE",
            "refseq_ac": "NP_001268730",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RAC-alpha serine/threonine-protein kinase",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "akt1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "akt1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0081002",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081002"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47196-1",
            "uniprot_ac": "P47196",
            "uniprot_id": "AKT1_RAT",
            "refseq_ac": "NP_150233",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "RAC-alpha serine/threonine-protein kinase",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PKB alpha",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PKB",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase B alpha",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase B",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RAC-PK-alpha",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RAC-alpha serine/threonine-protein kinase",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "murine thymoma viral (v-akt) oncogene homolog 1; RAC-PK-alpha; thymoma viral proto-oncogene 1; AKT1 kinase; RAC protein kinase alpha RAC-PK alpha; PKB alpha; protein kinase B alpha; v-akt murine thymoma viral oncogene homolog 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Akt1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Akt1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Akt",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0081002",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081002"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081002"
}