{
    "disease_id": "DOID:0111246",
    "recommended_name": {
        "id": "DOID:0111246",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111246",
        "name": "amyotrophic lateral sclerosis-parkinsonism/dementia complex 1",
        "description": "A neurodegenerative disease characterized by chronic, progressive amyotrophic lateral sclerosis and parkinsonism-dementia. Susceptibility to this disease is influenced by heterozygous mutation in TRPM7 on 15q21.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111246",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111246",
            "name": "ALS-PDC",
            "description": ""
        },
        {
            "id": "DOID:0111246",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111246",
            "name": "Guam disease",
            "description": ""
        },
        {
            "id": "DOID:0111246",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111246",
            "name": "Lytico-Bodig disease",
            "description": ""
        },
        {
            "id": "DOID:0111246",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111246",
            "name": "PDALS",
            "description": ""
        },
        {
            "id": "DOID:0111246",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111246",
            "name": "parkinsonism-dementia-ALS complex",
            "description": ""
        },
        {
            "id": "DOID:0111246",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111246",
            "name": "amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam",
            "description": ""
        },
        {
            "id": "DOID:0111246",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111246",
            "name": "Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007104",
            "name": "amyotrophic lateral sclerosis-parkinsonism-dementia complex",
            "description": ""
        },
        {
            "id": "MONDO:0007104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007104",
            "name": "Guam disease",
            "description": ""
        },
        {
            "id": "MONDO:0007104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007104",
            "name": "Lytico-Bodig disease",
            "description": ""
        },
        {
            "id": "MONDO:0007104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007104",
            "name": "Lytigo-Bodig disease",
            "description": ""
        },
        {
            "id": "MONDO:0007104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007104",
            "name": "PDALS",
            "description": ""
        },
        {
            "id": "MONDO:0007104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007104",
            "name": "Parkinsonism-dementia-ALS complex",
            "description": ""
        },
        {
            "id": "MONDO:0007104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007104",
            "name": "amyotrophic lateral sclerosis-Parkinsonism/dementia Complex type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007104",
            "name": "amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007104",
            "name": "ALS-pDC",
            "description": ""
        },
        {
            "id": "MONDO:0007104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007104",
            "name": "amyotrophic lateral sclerosis, Parkinsonism/dementia complex of Guam",
            "description": ""
        },
        {
            "id": "MONDO:0007104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007104",
            "name": "amyotrophic lateral sclerosis-PARKINSONISM/dementia complex 1",
            "description": ""
        },
        {
            "id": "MONDO:0007104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007104",
            "name": "amyotrophic lateral sclerosis-Parkinsonism/dementia Complex of Guam",
            "description": ""
        },
        {
            "id": "MONDO:0007104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007104",
            "name": "amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to",
            "description": ""
        },
        {
            "id": "MIM:105500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/105500",
            "name": "Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1",
            "description": "Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111246"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111246",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111246",
            "categories": []
        },
        {
            "id": "MONDO:0007104",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007104",
            "categories": []
        },
        {
            "id": "MIM:105500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/105500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A8DYE2-1",
            "uniprot_ac": "A8DYE2",
            "uniprot_id": "TRPCG_DROME",
            "refseq_ac": "NP_001036548",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel trpm",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG44240-PB; Trpm-PB; transient receptor potential cation channel, subfamily M ortholog; transient receptor potential channel M",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Transient receptor potential cation channel, subfamily M ortholog",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel, subfamily M, isoform B",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trpm",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GH04950; CG16805; CG30078; CG30079; CG34123; CG34187; CG44240; Dmel\\CG44240; DmTRPM; dTRPM; mdcds_11815; trpm; TrpM; TRPM",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:GH04950",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG16805",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG30078",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG30079",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG34123",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG34187",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG44240",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "DmTRPM",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG44240",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG44240",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "TRPM",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "TrpM",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Trpm",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "dTRPM",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "mdcds_11815",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "trpm",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111246",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111246"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q923J1-1",
            "uniprot_ac": "Q923J1",
            "uniprot_id": "TRPM7_MOUSE",
            "refseq_ac": "NP_001157797",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel subfamily M member 7",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Channel-kinase 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "LTrpC-7",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "LTrpC7",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Long transient receptor potential channel 7",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "TRP-PLIK",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Transient receptor potential-phospholipase C-interacting kinase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential M7; transient receptor potential-related protein, ChaK; long transient receptor potential channel 7; channel-kinase 1; transient receptor potential-phospholipase C-interacting kinase",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily M member 7 isoform 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trpm7",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2310022G15Rik; 4833414K03Rik; 5033407O22Rik; CHAK; CHAK1; Ltpr7; LTrpC-7; Ltrpc7; TRPPLIK",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Chak",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Ltrpc7",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Trpm7",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111246",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111246"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96QT4-1",
            "uniprot_ac": "Q96QT4",
            "uniprot_id": "TRPM7_HUMAN",
            "refseq_ac": "NP_001288141",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel subfamily M member 7",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Channel-kinase 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "LTRPC ion channel family member 7; transient receptor potential-phospholipase C-interacting kinase; channel-kinase 1; long transient receptor potential channel 7",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "LTrpC-7",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "LTrpC7",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Long transient receptor potential channel 7",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily M member 7 isoform b",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRPM7",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "ALSPDC; CHAK; CHAK1; LTrpC-7; LTRPC7; TRP-PLIK",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CHAK1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "LTRPC7",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "TRPM7",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "hCG_39859",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111246",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111246"
                },
                {
                    "id": "105500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/105500"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q563W7-1",
            "uniprot_ac": "Q563W7",
            "uniprot_id": "Q563W7_DANRE",
            "refseq_ac": "NP_001025232",
            "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",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "nutria; transient receptor potential melastatin 7; touchtone",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily M member 7",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trpm7",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "cb495; tct",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "cb495",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "tct",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "trpm7",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111246",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111246"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q925B3-1",
            "uniprot_ac": "Q925B3",
            "uniprot_id": "TRPM7_RAT",
            "refseq_ac": "NP_446157",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel subfamily M member 7",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "LTrpC-7",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "LTrpC7",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Long transient receptor potential channel 7",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "TRP-PLIK",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Transient receptor potential-phospholipase C-interacting kinase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "long transient receptor potential channel 7; transient receptor potential-phospholipase C-interacting kinase",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily M member 7",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trpm7",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Chak; LTrpC-7; Ltrpc7; Trp-plik",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Trpm7",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111246",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111246"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111246"
}