{
    "disease_id": "DOID:0081378",
    "recommended_name": {
        "id": "DOID:0081378",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081378",
        "name": "amyotrophic lateral sclerosis type 24",
        "description": "An amyotrophic lateral sclerosis that is characterized by adult-onset loss of motor neurons and that has_material_basis_in heterozygous mutation in the NEK1 gene on chromosome 4q33."
    },
    "synonyms": [
        {
            "id": "MONDO:0054750",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054750",
            "name": "amyotrophic lateral sclerosis, susceptibility to, 24",
            "description": ""
        },
        {
            "id": "MONDO:0054750",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054750",
            "name": "amyotrophic lateral sclerosis, susceptibility to, 24",
            "description": ""
        },
        {
            "id": "MONDO:0054750",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054750",
            "name": "ALS24",
            "description": ""
        },
        {
            "id": "MIM:617892",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617892",
            "name": "Amyotrophic lateral sclerosis 24",
            "description": "Amyotrophic lateral sclerosis 24"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081378"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081378",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081378",
            "categories": []
        },
        {
            "id": "MONDO:0054750",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054750",
            "categories": []
        },
        {
            "id": "MIM:617892",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617892",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3B435-1",
            "uniprot_ac": "A0A8M3B435",
            "uniprot_id": "A0A8M3B435_DANRE",
            "refseq_ac": "XP_009292952",
            "glycoprotein": "yes",
            "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",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Nek1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nek1",
                    "type": "recommended"
                },
                {
                    "name": "nek1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3B435-1",
            "evidence": [
                {
                    "id": "0081378",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081378"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q90XC2-1",
            "uniprot_ac": "Q90XC2",
            "uniprot_id": "NEK8_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase Nek8",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Never in mitosis A-related kinase 8",
                    "type": "synonym"
                },
                {
                    "name": "NimA-related protein kinase 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nek8",
                    "type": "recommended"
                }
            ],
            "record_id": "Q90XC2-1",
            "evidence": [
                {
                    "id": "0081378",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081378"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51954-1",
            "uniprot_ac": "P51954",
            "uniprot_id": "NEK1_MOUSE",
            "refseq_ac": "NP_001280566",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase Nek1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "NIMA-related kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "NY-REN-55 antigen",
                    "type": "synonym"
                },
                {
                    "name": "Nek1 serine/threonine- and tyrosine-specific protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "Never in mitosis A-related kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "NimA-related protein kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "kidney, anemia and testis",
                    "type": "synonym"
                },
                {
                    "name": "never in mitosis A-related kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "nimA-related protein kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Nek1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Nek1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nek1",
                    "type": "recommended"
                },
                {
                    "name": "D8Ertd790e",
                    "type": "synonym"
                },
                {
                    "name": "Nek1",
                    "type": "synonym"
                },
                {
                    "name": "kat",
                    "type": "synonym"
                }
            ],
            "record_id": "P51954-1",
            "evidence": [
                {
                    "id": "0081378",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081378"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K1R7-1",
            "uniprot_ac": "Q8K1R7",
            "uniprot_id": "NEK9_MOUSE",
            "refseq_ac": "NP_660120",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase Nek9",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.38",
                    "type": "synonym"
                },
                {
                    "name": "Nercc1 kinase",
                    "type": "synonym"
                },
                {
                    "name": "Never in mitosis A-related kinase 9",
                    "type": "synonym"
                },
                {
                    "name": "NimA-related protein kinase 9",
                    "type": "synonym"
                },
                {
                    "name": "nercc1 kinase",
                    "type": "synonym"
                },
                {
                    "name": "never in mitosis A-related kinase 9",
                    "type": "synonym"
                },
                {
                    "name": "nimA-related protein kinase 9",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Nek9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nek9",
                    "type": "recommended"
                },
                {
                    "name": "C130021H08Rik",
                    "type": "synonym"
                },
                {
                    "name": "Nek9",
                    "type": "synonym"
                },
                {
                    "name": "Nercc",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K1R7-1",
            "evidence": [
                {
                    "id": "0081378",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081378"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91ZR4-1",
            "uniprot_ac": "Q91ZR4",
            "uniprot_id": "NEK8_MOUSE",
            "refseq_ac": "NP_543125",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase Nek8",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "NIMA-related expressed kinase 8",
                    "type": "synonym"
                },
                {
                    "name": "Never in mitosis A-related kinase 8",
                    "type": "synonym"
                },
                {
                    "name": "NimA-related protein kinase 8",
                    "type": "synonym"
                },
                {
                    "name": "juvenile cystic kidney",
                    "type": "synonym"
                },
                {
                    "name": "never in mitosis A-related kinase 8",
                    "type": "synonym"
                },
                {
                    "name": "nimA-related protein kinase 8",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Nek8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nek8",
                    "type": "recommended"
                },
                {
                    "name": "4632401F23Rik",
                    "type": "synonym"
                },
                {
                    "name": "Jck",
                    "type": "synonym"
                },
                {
                    "name": "Nek8",
                    "type": "synonym"
                },
                {
                    "name": "b2b1449Clo",
                    "type": "synonym"
                },
                {
                    "name": "jck",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91ZR4-1",
            "evidence": [
                {
                    "id": "0081378",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081378"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96PY6-1",
            "uniprot_ac": "Q96PY6",
            "uniprot_id": "NEK1_HUMAN",
            "refseq_ac": "NP_001186326",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase Nek1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "NIMA (never in mitosis gene a)-related kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "Never in mitosis A-related kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "NimA-related protein kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "Renal carcinoma antigen NY-REN-55",
                    "type": "synonym"
                },
                {
                    "name": "never in mitosis A-related kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "nimA-related protein kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "protein-serine/threonine kinase",
                    "type": "synonym"
                },
                {
                    "name": "renal carcinoma antigen NY-REN-55",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Nek1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Nek1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NEK1",
                    "type": "recommended"
                },
                {
                    "name": "ALS24",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1901",
                    "type": "synonym"
                },
                {
                    "name": "NEK1",
                    "type": "synonym"
                },
                {
                    "name": "NY-REN-55",
                    "type": "synonym"
                },
                {
                    "name": "OFD2",
                    "type": "synonym"
                },
                {
                    "name": "SRPS2A",
                    "type": "synonym"
                },
                {
                    "name": "SRPS2",
                    "type": "synonym"
                },
                {
                    "name": "SRTD6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96PY6-1",
            "evidence": [
                {
                    "id": "617892",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617892"
                },
                {
                    "id": "0081378",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081378"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZB99-1",
            "uniprot_ac": "D3ZB99",
            "uniprot_id": "D3ZB99_RAT",
            "refseq_ac": "XP_038950290",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Nek1 isoform X3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nek1",
                    "type": "recommended"
                },
                {
                    "name": "Nek1",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZB99-1",
            "evidence": [
                {
                    "id": "0081378",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081378"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZGQ5-1",
            "uniprot_ac": "D3ZGQ5",
            "uniprot_id": "NEK8_RAT",
            "refseq_ac": "NP_001099274",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase Nek8",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "NIMA (never in mitosis gene a)- related kinase 8",
                    "type": "synonym"
                },
                {
                    "name": "NIMA (never in mitosis gene a)-related expressed kinase 8",
                    "type": "synonym"
                },
                {
                    "name": "Never in mitosis A-related kinase 8",
                    "type": "synonym"
                },
                {
                    "name": "NimA-related protein kinase 8",
                    "type": "synonym"
                },
                {
                    "name": "never in mitosis A-related kinase 8",
                    "type": "synonym"
                },
                {
                    "name": "nimA-related protein kinase 8",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Nek8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nek8",
                    "type": "recommended"
                },
                {
                    "name": "Jck",
                    "type": "synonym"
                },
                {
                    "name": "Nek8",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZGQ5-1",
            "evidence": [
                {
                    "id": "0081378",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081378"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AQL7-1",
            "uniprot_ac": "A0A8I6AQL7",
            "uniprot_id": "A0A8I6AQL7_RAT",
            "refseq_ac": "NP_001100217",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase Nek9",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.38",
                    "type": "synonym"
                },
                {
                    "name": "NIMA (never in mitosis gene a)- related kinase 9",
                    "type": "synonym"
                },
                {
                    "name": "Nercc1 kinase",
                    "type": "synonym"
                },
                {
                    "name": "Never in mitosis A-related kinase 9",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Nek9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nek9",
                    "type": "recommended"
                },
                {
                    "name": "Nek9",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AQL7-1",
            "evidence": [
                {
                    "id": "0081378",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081378"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VC32-1",
            "uniprot_ac": "Q9VC32",
            "uniprot_id": "Q9VC32_DROME",
            "refseq_ac": "NP_651293",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "CG10951-PA",
                    "type": "synonym"
                },
                {
                    "name": "NimA-like kinase",
                    "type": "synonym"
                },
                {
                    "name": "niki-PA",
                    "type": "synonym"
                },
                {
                    "name": "nimA-like kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "niki",
                    "type": "recommended"
                },
                {
                    "name": "CG10951",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10951",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10951",
                    "type": "synonym"
                },
                {
                    "name": "NEK1",
                    "type": "synonym"
                },
                {
                    "name": "Niki",
                    "type": "synonym"
                },
                {
                    "name": "niki",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VC32-1",
            "evidence": [
                {
                    "id": "0081378",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081378"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TD19-1",
            "uniprot_ac": "Q8TD19",
            "uniprot_id": "NEK9_HUMAN",
            "refseq_ac": "NP_001316166",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase Nek9",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.38",
                    "type": "synonym"
                },
                {
                    "name": "NIMA (never in mitosis gene a)- related kinase 9",
                    "type": "synonym"
                },
                {
                    "name": "Nek8",
                    "type": "synonym"
                },
                {
                    "name": "Nercc1 kinase",
                    "type": "synonym"
                },
                {
                    "name": "Never in mitosis A-related kinase 9",
                    "type": "synonym"
                },
                {
                    "name": "NimA-related kinase 8",
                    "type": "synonym"
                },
                {
                    "name": "NimA-related protein kinase 9",
                    "type": "synonym"
                },
                {
                    "name": "nercc1 kinase",
                    "type": "synonym"
                },
                {
                    "name": "nimA-related protein kinase 9",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Nek9 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Nek9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NEK9",
                    "type": "recommended"
                },
                {
                    "name": "APUG",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1995",
                    "type": "synonym"
                },
                {
                    "name": "LCCS10",
                    "type": "synonym"
                },
                {
                    "name": "NC",
                    "type": "synonym"
                },
                {
                    "name": "NEK8",
                    "type": "synonym"
                },
                {
                    "name": "NEK9",
                    "type": "synonym"
                },
                {
                    "name": "NERCC1",
                    "type": "synonym"
                },
                {
                    "name": "NERCC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TD19-1",
            "evidence": [
                {
                    "id": "0081378",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081378"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86SG6-1",
            "uniprot_ac": "Q86SG6",
            "uniprot_id": "NEK8_HUMAN",
            "refseq_ac": "NP_835464",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase Nek8",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "NIMA (never in mitosis gene a)- related kinase 8",
                    "type": "synonym"
                },
                {
                    "name": "NIMA-family kinase NEK8",
                    "type": "synonym"
                },
                {
                    "name": "NIMA-related kinase 12a",
                    "type": "synonym"
                },
                {
                    "name": "Never in mitosis A-related kinase 8",
                    "type": "synonym"
                },
                {
                    "name": "NimA-related protein kinase 8",
                    "type": "synonym"
                },
                {
                    "name": "Nima-related protein kinase 12a",
                    "type": "synonym"
                },
                {
                    "name": "nephrocystin 9",
                    "type": "synonym"
                },
                {
                    "name": "never in mitosis A-related kinase 8",
                    "type": "synonym"
                },
                {
                    "name": "nimA-related protein kinase 8",
                    "type": "synonym"
                },
                {
                    "name": "nima-related protein kinase 12a",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Nek8",
                    "type": "synonym"
                },
                {
                    "name": "serine/thrionine-protein kinase NEK8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NEK8",
                    "type": "recommended"
                },
                {
                    "name": "JCK",
                    "type": "synonym"
                },
                {
                    "name": "NEK12A",
                    "type": "synonym"
                },
                {
                    "name": "NEK8",
                    "type": "synonym"
                },
                {
                    "name": "NPHP9",
                    "type": "synonym"
                },
                {
                    "name": "PKD8",
                    "type": "synonym"
                },
                {
                    "name": "RHPD2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86SG6-1",
            "evidence": [
                {
                    "id": "0081378",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081378"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081378"
}