{
"uniprot_canonical_ac": "P03905-1",
"uniprot_ac": "P03905",
"uniprot_id": "NU4M_HUMAN",
"mass": {
"chemical_mass": 51581.0,
"monoisotopic_mass": 51581.0
},
"refseq": {
"ac": "YP_003024035",
"name": "NADH dehydrogenase subunit 4",
"summary": "",
"url": "https://www.ncbi.nlm.nih.gov/protein/YP_003024035"
},
"gene_names": [
{
"name": "MT-ND4",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/P03905",
"id": "P03905"
},
{
"name": "MTND4",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/YP_003024035",
"id": "YP_003024035"
},
{
"name": "MTND4",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P03905",
"id": "P03905"
},
{
"name": "NADH4",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P03905",
"id": "P03905"
},
{
"name": "ND4",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/YP_003024035",
"id": "YP_003024035"
},
{
"name": "ND4",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P03905",
"id": "P03905"
}
],
"protein_names": [
{
"name": "NADH-ubiquinone oxidoreductase chain 4",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "P03905"
},
{
"name": "7.1.1.2",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P03905"
},
{
"name": "NADH dehydrogenase subunit 4",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/YP_003024035",
"id": "YP_003024035"
},
{
"name": "NADH dehydrogenase subunit 4",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P03905"
}
],
"function": [
{
"annotation": "Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:8644732, PubMed:8344246, PubMed:15250827). Essential for the catalytic activity and assembly of complex I (PubMed:8644732, PubMed:8344246, PubMed:15250827).",
"evidence": [
{
"database": "UniProtKB",
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"url": "https://www.uniprot.org/uniprot/P03905#function"
},
{
"database": "PubMed",
"id": "8644732",
"url": "https://glygen.org/publication/PubMed/8644732"
},
{
"database": "PubMed",
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"url": "https://glygen.org/publication/PubMed/15250827"
},
{
"database": "PubMed",
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"url": "https://glygen.org/publication/PubMed/8344246"
}
]
}
],
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111755",
"name": "Leber hereditary optic neuropathy and dystonia",
"description": "A Leber plus disease characterized by Leber hereditary optic neuropathy and dystonia that has_material_basis_in mutation in the mitochondrial genes MTND6, MTND4, MTND1 or MTND3 that make up the mitochondrial complex I."
},
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111755",
"name": "LDYT",
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},
{
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"name": "Leber optic atrophy and dystonia",
"description": ""
},
{
"id": "DOID:0111755",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111755",
"name": "Marsden syndrome",
"description": ""
},
{
"id": "DOID:0111755",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111755",
"name": "familial dystonia with visual failure and striatal lucencies",
"description": ""
},
{
"id": "DOID:0111755",
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"description": ""
},
{
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"url": "https://monarchinitiative.org/disease/MONDO:0010772",
"name": "Leber optic atrophy and dystonia",
"description": ""
},
{
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"url": "https://monarchinitiative.org/disease/MONDO:0010772",
"name": "Leber optic atrophy and dystonia",
"description": ""
},
{
"id": "MONDO:0010772",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010772",
"name": "LDYT",
"description": ""
},
{
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"url": "https://monarchinitiative.org/disease/MONDO:0010772",
"name": "LHON and dystonia",
"description": ""
},
{
"id": "MONDO:0010772",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010772",
"name": "Leber Hereditary optic neuropathy with dystonia",
"description": ""
},
{
"id": "MONDO:0010772",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010772",
"name": "Leber hereditary optic neuropathy with dystonia",
"description": ""
},
{
"id": "MONDO:0010772",
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"description": ""
},
{
"id": "MONDO:0010772",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010772",
"name": "Marsden syndrome",
"description": ""
},
{
"id": "MONDO:0010772",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010772",
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"description": ""
},
{
"id": "MONDO:0010772",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010772",
"name": "dystonia, familial, with visual failure and striatal lucencies",
"description": ""
},
{
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"resource": "MIM",
"url": "https://www.omim.org/entry/500001",
"name": "Leber hereditary optic neuropathy with dystonia",
"description": "Leber hereditary optic neuropathy with dystonia"
}
],
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{
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"database": "MIM",
"url": "https://www.omim.org/entry/500001"
}
]
},
{
"disease_id": "DOID:3687",
"recommended_name": {
"id": "DOID:3687",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3687",
"name": "MELAS syndrome",
"description": "A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, has_symptom myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops_from mutation in mitochondrial genes including MT-TL1, which encodes tRNA proteins."
},
"synonyms": [
{
"id": "DOID:3687",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3687",
"name": "MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES",
"description": ""
},
{
"id": "MONDO:0010789",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010789",
"name": "MELAS syndrome",
"description": "MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations."
},
{
"id": "MONDO:0010789",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010789",
"name": "MELAS syndrome",
"description": ""
},
{
"id": "MONDO:0010789",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010789",
"name": "mitochondrial encephalomyopathy, lactic acidosis and stroke",
"description": ""
},
{
"id": "MONDO:0010789",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010789",
"name": "mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes",
"description": ""
},
{
"id": "MONDO:0010789",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010789",
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"description": ""
},
{
"id": "MONDO:0010789",
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"url": "https://monarchinitiative.org/disease/MONDO:0010789",
"name": "mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes",
"description": ""
},
{
"id": "MONDO:0010789",
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"url": "https://monarchinitiative.org/disease/MONDO:0010789",
"name": "MELAS",
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},
{
"id": "MONDO:0010789",
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"url": "https://monarchinitiative.org/disease/MONDO:0010789",
"name": "mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes",
"description": ""
},
{
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"name": "Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome",
"description": "Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome"
}
],
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{
"id": "540000",
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"url": "https://www.omim.org/entry/540000"
}
]
},
{
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"recommended_name": {
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:705",
"name": "Leber hereditary optic neuropathy",
"description": ""
},
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{
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"resource": "Disease Ontology",
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"description": ""
},
{
"id": "DOID:705",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:705",
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"description": ""
},
{
"id": "MONDO:0010788",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010788",
"name": "Leber hereditary optic neuropathy",
"description": "Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers."
},
{
"id": "MONDO:0010788",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010788",
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},
{
"id": "MONDO:0010788",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010788",
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"description": ""
},
{
"id": "MONDO:0010788",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010788",
"name": "Leber hereditary optic neuropathy",
"description": ""
},
{
"id": "MONDO:0010788",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010788",
"name": "Leber optic atrophy",
"description": ""
},
{
"id": "MONDO:0010788",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010788",
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"description": ""
},
{
"id": "MONDO:0010788",
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"url": "https://monarchinitiative.org/disease/MONDO:0010788",
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"description": ""
},
{
"id": "MONDO:0010788",
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"url": "https://monarchinitiative.org/disease/MONDO:0010788",
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"description": ""
},
{
"id": "MONDO:0010788",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010788",
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"description": ""
},
{
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"description": "Leber hereditary optic neuropathy"
}
],
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{
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"database": "MIM",
"url": "https://www.omim.org/entry/535000"
}
]
}
],
"snv": [],
"mutagenesis": [],
"expression_tissue": [
{
"tissue": {
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"namespace": "UBERON",
"id": "0000082",
"url": "http://purl.obolibrary.org/obo/UBERON_0000082"
},
"score": "100",
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{
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}
]
},
{
"tissue": {
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"namespace": "UBERON",
"id": "0000167",
"url": "http://purl.obolibrary.org/obo/UBERON_0000167"
},
"score": "99.96",
"present": "HIGH",
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{
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}
]
},
{
"tissue": {
"name": "Stomach",
"namespace": "UBERON",
"id": "0000945",
"url": "http://purl.obolibrary.org/obo/UBERON_0000945"
},
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"url": "https://bgee.org/?page=gene&gene_id=ENSG00000198886"
}
]
},
{
"tissue": {
"name": "Esophagus",
"namespace": "UBERON",
"id": "0001043",
"url": "http://purl.obolibrary.org/obo/UBERON_0001043"
},
"score": "99.99",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000198886",
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}
]
},
{
"tissue": {
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"id": "0001052",
"url": "http://purl.obolibrary.org/obo/UBERON_0001052"
},
"score": "99.99",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000198886",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000198886"
}
]
},
{
"tissue": {
"name": "Urinary bladder",
"namespace": "UBERON",
"id": "0001255",
"url": "http://purl.obolibrary.org/obo/UBERON_0001255"
},
"score": "100",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000198886",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000198886"
}
]
},
{
"tissue": {
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"namespace": "UBERON",
"id": "0002046",
"url": "http://purl.obolibrary.org/obo/UBERON_0002046"
},
"score": "99.99",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000198886",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000198886"
}
]
},
{
"tissue": {
"name": "Liver",
"namespace": "UBERON",
"id": "0002107",
"url": "http://purl.obolibrary.org/obo/UBERON_0002107"
},
"score": "99.87",
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"evidence": [
{
"database": "Bgee",
"id": "ENSG00000198886",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000198886"
}
]
},
{
"tissue": {
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"namespace": "UBERON",
"id": "0002367",
"url": "http://purl.obolibrary.org/obo/UBERON_0002367"
},
"score": "99.99",
"present": "HIGH",
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{
"database": "Bgee",
"id": "ENSG00000198886",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000198886"
}
]
},
{
"tissue": {
"name": "Thoracic mammary gland",
"namespace": "UBERON",
"id": "0005200",
"url": "http://purl.obolibrary.org/obo/UBERON_0005200"
},
"score": "99.99",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000198886",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000198886"
}
]
}
],
"expression_disease": [
{
"significant": "No",
"trend": "up",
"name": "Prostate cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10283",
"evidence": [
{
"database": "BioXpress",
"id": "P03905",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P03905"
}
],
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{
"disease_id": "DOID:10283",
"recommended_name": {
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate cancer",
"description": "A male reproductive organ cancer that is located_in the prostate."
},
"synonyms": [
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "NGP - new growth of prostate",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "malignant tumor of the prostate",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate neoplasm",
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},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic cancer",
"description": ""
},
{
"id": "DOID:10283",
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"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic neoplasm",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "tumor of the prostate",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, type 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "HPC9",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene."
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "EHBP1 familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "familial prostate cancer caused by mutation in EHBP1",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, type 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "HPC12",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, type 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "HPC5",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, type 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, susceptibility to, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "HPC3",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, type 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, susceptibility to, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "HPC4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, on chromosome 7",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene."
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "MSMB familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "familial prostate cancer caused by mutation in MSMB",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, type 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "HPC13",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, type 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "HPC8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "predisposing for prostate cancer",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, type 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "HPC6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "HPC10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate carcinoma",
"description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma."
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate carcinoma",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, somatic",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, hereditary",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "HPC7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer aggressiveness",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene."
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "RNASEL familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "familial prostate cancer caused by mutation in RNASEL",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, type 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "HPC1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "Prca1",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "HPC11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "HPC14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "HPC15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "HPCX1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer susceptibility, X-linked",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "HPCX2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MIM:611868",
"resource": "MIM",
"url": "https://www.omim.org/entry/611868",
"name": "Prostate cancer, hereditary, 12",
"description": "Prostate cancer, hereditary, 12"
},
{
"id": "MIM:611928",
"resource": "MIM",
"url": "https://www.omim.org/entry/611928",
"name": "Prostate cancer, hereditary, 13",
"description": "Prostate cancer, hereditary, 13"
},
{
"id": "MIM:176807",
"resource": "MIM",
"url": "https://www.omim.org/entry/176807",
"name": "Prostate cancer",
"description": "Prostate cancer"
},
{
"id": "MIM:601518",
"resource": "MIM",
"url": "https://www.omim.org/entry/601518",
"name": "Prostate cancer, hereditary, 1",
"description": "Prostate cancer, hereditary, 1"
},
{
"id": "MIM:611955",
"resource": "MIM",
"url": "https://www.omim.org/entry/611955",
"name": "Prostate cancer, hereditary, 11",
"description": "Prostate cancer, hereditary, 11"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Stomach cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10534",
"evidence": [
{
"database": "BioXpress",
"id": "P03905",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P03905"
}
],
"disease": [
{
"disease_id": "DOID:10534",
"recommended_name": {
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "stomach cancer",
"description": "A gastrointestinal system cancer that is located_in the stomach."
},
"synonyms": [
{
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "gastric cancer",
"description": ""
},
{
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": "A primary or metastatic malignant neoplasm involving the stomach."
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca lesser curvature - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "cancer of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer risk after h. pylori infection",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumor",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumour",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant stomach neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of greater curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of greater curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "stomach cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca body - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "ca greater curvature of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, intestinal",
"description": ""
},
{
"id": "MIM:613659",
"resource": "MIM",
"url": "https://www.omim.org/entry/613659",
"name": "Gastric cancer",
"description": "Gastric cancer"
}
]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Urinary bladder cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11054",
"evidence": [
{
"database": "BioXpress",
"id": "P03905",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P03905"
}
],
"disease": [
{
"disease_id": "DOID:11054",
"recommended_name": {
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
"name": "urinary bladder cancer",
"description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder."
},
"synonyms": [
{
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
"name": "bladder cancer",
"description": ""
},
{
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": "A primary or metastatic malignant neoplasm involving the bladder."
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "bladder cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "cancer of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumour",
"description": ""
},
{
"id": "MIM:109800",
"resource": "MIM",
"url": "https://www.omim.org/entry/109800",
"name": "Bladder cancer",
"description": "Bladder cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Head and neck cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11934",
"evidence": [
{
"database": "BioXpress",
"id": "P03905",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P03905"
}
],
"disease": [
{
"disease_id": "DOID:11934",
"recommended_name": {
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck cancer",
"description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx."
},
"synonyms": [
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck tumours",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head/neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "tumor of head and neck",
"description": ""
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Lung cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1324",
"evidence": [
{
"database": "BioXpress",
"id": "P03905",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P03905"
}
],
"disease": [
{
"disease_id": "DOID:1324",
"recommended_name": {
"id": "DOID:1324",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1324",
"name": "lung cancer",
"description": "A respiratory system cancer that is located_in the lung."
},
"synonyms": [
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "LNCR1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "LNCR3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "adenocarcinoma of lung, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "LNCR4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "LNCR5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": "A malignant neoplasm involving the lung."
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "cancer of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung neoplasm",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumor",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumour",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "Nonsmall cell lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "alveolar cell carcinoma",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung neoplasm",
"description": ""
},
{
"id": "MIM:211980",
"resource": "MIM",
"url": "https://www.omim.org/entry/211980",
"name": "Lung cancer",
"description": "Lung cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Breast cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1612",
"evidence": [
{
"database": "BioXpress",
"id": "P03905",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P03905"
}
],
"disease": [
{
"disease_id": "DOID:1612",
"recommended_name": {
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast cancer",
"description": "A thoracic cancer that originates in the mammary gland."
},
"synonyms": [
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant neoplasm of breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant tumor of the breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary cancer",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "primary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, lobular, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of the breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial Male",
"description": ""
},
{
"id": "MIM:114480",
"resource": "MIM",
"url": "https://www.omim.org/entry/114480",
"name": "Breast cancer",
"description": "Breast cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Thyroid cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1781",
"evidence": [
{
"database": "BioXpress",
"id": "P03905",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P03905"
}
],
"disease": [
{
"disease_id": "DOID:1781",
"recommended_name": {
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid cancer",
"description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage."
},
"synonyms": [
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid gland cancer",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "Thyroid gland neoplasm",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "malignant neoplasm of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "malignant tumour of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "neoplasm of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid neoplasm",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Kidney cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:263",
"evidence": [
{
"database": "BioXpress",
"id": "P03905",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P03905"
}
],
"disease": [
{
"disease_id": "DOID:263",
"recommended_name": {
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "kidney cancer",
"description": "A urinary system cancer that is located_in the kidney."
},
"synonyms": [
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant neoplasm of kidney except pelvis",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant tumour of kidney",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "renal cancer",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Liver cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:3571",
"evidence": [
{
"database": "BioXpress",
"id": "P03905",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P03905"
}
],
"disease": [
{
"disease_id": "DOID:3571",
"recommended_name": {
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "liver cancer",
"description": "A hepatobiliary system cancer that is located_in the liver."
},
"synonyms": [
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Ca liver - primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Resectable malignant neoplasm of Liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant hepato-biliary neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant tumor of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "non-resectable primary hepatic malignant neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary liver cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "resectable malignant neoplasm of the liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, not specified as primary or secondary",
"description": ""
}
]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Uterine cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:363",
"evidence": [
{
"database": "BioXpress",
"id": "P03905",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P03905"
}
],
"disease": [
{
"disease_id": "DOID:363",
"recommended_name": {
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine cancer",
"description": "A female reproductive organ cancer that is located_in the uterus."
},
"synonyms": [
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "CA - cancer of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "Tumour of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterus neoplasm",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Esophageal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:5041",
"evidence": [
{
"database": "BioXpress",
"id": "P03905",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P03905"
}
],
"disease": [
{
"disease_id": "DOID:5041",
"recommended_name": {
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophageal cancer",
"description": "A gastrointestinal system cancer that is located_in the esophagus."
},
"synonyms": [
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophagus cancer",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Distal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Proximal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of abdominal esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of the middle Third of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": "A primary or metastatic malignant neoplasm involving the esophagus."
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "oesophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca lower third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of distal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of lower third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of proximal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of upper third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of abdominal esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of distal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of proximal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of the middle third of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of abdominal oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of distal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of proximal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of the middle third of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Aerodigestive tract cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Escc, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "gastric cardia adenocarcinoma, susceptibility to",
"description": ""
},
{
"id": "MIM:133239",
"resource": "MIM",
"url": "https://www.omim.org/entry/133239",
"name": "Esophageal cancer",
"description": "Esophageal cancer"
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Colorectal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:9256",
"evidence": [
{
"database": "BioXpress",
"id": "P03905",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P03905"
}
],
"disease": [
{
"disease_id": "DOID:9256",
"recommended_name": {
"id": "DOID:9256",
"resource": "Disease Ontology",
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"title": "The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification.",
"journal": "J. Biol. Chem.",
"date": "2003",
"authors": "Murray J, Zhang B, Taylor SW, Oglesbee D, Fahy E, Marusich MF, Ghosh SS, Capaldi RA",
"evidence": [
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"database": "UniProtKB",
"id": "P03905",
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"type": "PubMed",
"id": "12611891",
"url": "https://glygen.org/publication/PubMed/12611891"
}
]
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"title": "The nuclear encoded subunits of complex I from bovine heart mitochondria.",
"journal": "Biochimica et biophysica acta",
"date": "2003",
"authors": "Hirst J, Carroll J, Fearnley IM, Shannon RJ, Walker JE",
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"database": "Reactome",
"id": "R-HSA-611105",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105"
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"type": "PubMed",
"id": "12837546",
"url": "https://glygen.org/publication/PubMed/12837546"
}
]
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"title": "Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines.",
"journal": "Genome Res.",
"date": "2003",
"authors": "Ingman Max, Gyllensten Ulf",
"evidence": [
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"database": "UniProtKB",
"id": "P03905",
"url": "https://www.uniprot.org/uniprot/P03905"
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"type": "PubMed",
"id": "12840039",
"url": "https://glygen.org/publication/PubMed/12840039"
}
]
},
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"title": "Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J.",
"journal": "Mol. Biol. Evol.",
"date": "2003",
"authors": "Moilanen Jukka S, Finnila Saara, Majamaa Kari",
"evidence": [
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"database": "UniProtKB",
"id": "P03905",
"url": "https://www.uniprot.org/uniprot/P03905"
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"type": "PubMed",
"id": "12949126",
"url": "https://glygen.org/publication/PubMed/12949126"
}
]
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"title": "A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I.",
"journal": "American journal of human genetics",
"date": "1992",
"authors": "Lertrit P, Noer AS, Jean-Francois MJ, Kapsa R, Dennett X, Thyagarajan D, Lethlean K, Byrne E, Marzuki S",
"evidence": [
{
"database": "UniProtKB",
"id": "P03905",
"url": "https://www.uniprot.org/uniprot/P03905"
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"reference": [
{
"type": "PubMed",
"id": "1323207",
"url": "https://glygen.org/publication/PubMed/1323207"
}
]
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{
"title": "Saturation kinetics of coenzyme Q in NADH and succinate oxidation in beef heart mitochondria.",
"journal": "FEBS letters",
"date": "1992",
"authors": "Estornell E, Fato R, Castelluccio C, Cavazzoni M, Parenti Castelli G, Lenaz G",
"evidence": [
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"database": "Reactome",
"id": "R-HSA-611105",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105"
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"type": "PubMed",
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}
]
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"title": "Differentiation of HT-29 human colonic adenocarcinoma cells correlates with increased expression of mitochondrial RNA: effects of trehalose on cell growth and maturation.",
"journal": "Cancer Res.",
"date": "1992",
"authors": "Lu X, Walker T, MacManus J P, Seligy V L",
"evidence": [
{
"database": "UniProtKB",
"id": "P03905",
"url": "https://www.uniprot.org/uniprot/P03905"
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"type": "PubMed",
"id": "1377597",
"url": "https://glygen.org/publication/PubMed/1377597"
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]
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"title": "The gross structure of the respiratory complex I: a Lego System.",
"journal": "Biochimica et biophysica acta",
"date": "2004",
"authors": "Friedrich T, Bottcher B",
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{
"database": "Reactome",
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"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105"
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"type": "PubMed",
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]
},
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"title": "Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians.",
"journal": "Int. J. Legal Med.",
"date": "2004",
"authors": "Coble Michael D, Just Rebecca S, O'Callaghan Jennifer E, Letmanyi Ilona H, Peterson Christine T, Irwin Jodi A, Parsons Thomas J",
"evidence": [
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"database": "UniProtKB",
"id": "P03905",
"url": "https://www.uniprot.org/uniprot/P03905"
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"type": "PubMed",
"id": "14760490",
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]
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"title": "Structural organization of mitochondrial human complex I: role of the ND4 and ND5 mitochondria-encoded subunits and interaction with prohibitin.",
"journal": "The Biochemical journal",
"date": "2004",
"authors": "Bourges I, Ramus C, Mousson de Camaret B, Beugnot R, Remacle C, Cardol P, Hofhaus G, Issartel JP",
"evidence": [
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"database": "UniProtKB",
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"type": "PubMed",
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]
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"title": "The Saccharomyces cerevisiae COQ10 gene encodes a START domain protein required for function of coenzyme Q in respiration.",
"journal": "The Journal of biological chemistry",
"date": "2005",
"authors": "Barros MH, Johnson A, Gin P, Marbois BN, Clarke CF, Tzagoloff A",
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"database": "Reactome",
"id": "R-HSA-611105",
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"type": "PubMed",
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]
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{
"title": "Normal variants of human mitochondrial DNA and translation products: the building of a reference data base.",
"journal": "Hum. Genet.",
"date": "1991",
"authors": "Marzuki S, Noer A S, Lertrit P, Thyagarajan D, Kapsa R, Utthanaphol P, Byrne E",
"evidence": [
{
"database": "UniProtKB",
"id": "P03905",
"url": "https://www.uniprot.org/uniprot/P03905"
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"type": "PubMed",
"id": "1757091",
"url": "https://glygen.org/publication/PubMed/1757091"
}
]
},
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"title": "Possible molecular mechanisms of the protonmotive function of cytochrome systems.",
"journal": "Journal of theoretical biology",
"date": "1976",
"authors": "Mitchell P",
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{
"database": "Reactome",
"id": "R-HSA-611105",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105"
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"type": "PubMed",
"id": "186667",
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]
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{
"title": "Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON).",
"journal": "FEBS letters",
"date": "1991",
"authors": "Majander A, Huoponen K, Savontaus ML, Nikoskelainen E, Wikstrom M",
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{
"database": "UniProtKB",
"id": "P03905",
"url": "https://www.uniprot.org/uniprot/P03905"
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{
"type": "PubMed",
"id": "1959619",
"url": "https://glygen.org/publication/PubMed/1959619"
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]
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"title": "Detection of the G to A mitochondrial DNA mutation at position 11778 in German families with Leber's hereditary optic neuropathy.",
"journal": "Human genetics",
"date": "1991",
"authors": "Kormann BA, Schuster H, Berninger TA, Leo-Kottler B",
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"database": "UniProtKB",
"id": "P03905",
"url": "https://www.uniprot.org/uniprot/P03905"
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"type": "PubMed",
"id": "1959931",
"url": "https://glygen.org/publication/PubMed/1959931"
}
]
},
{
"title": "Human ind1, an iron-sulfur cluster assembly factor for respiratory complex I.",
"journal": "Molecular and cellular biology",
"date": "2009",
"authors": "Sheftel AD, Stehling O, Pierik AJ, Netz DJ, Kerscher S, Elsasser HP, Wittig I, Balk J, Brandt U, Lill R",
"evidence": [
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"database": "Reactome",
"id": "R-HSA-6799198",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6799198"
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"type": "PubMed",
"id": "19752196",
"url": "https://glygen.org/publication/PubMed/19752196"
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]
},
{
"title": "MidA is a putative methyltransferase that is required for mitochondrial complex I function.",
"journal": "Journal of cell science",
"date": "2010",
"authors": "Carilla-Latorre S, Gallardo ME, Annesley SJ, Calvo-Garrido J, Grana O, Accari SL, Smith PK, Valencia A, Garesse R, Fisher PR, Escalante R",
"evidence": [
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"database": "Reactome",
"id": "R-HSA-6799198",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6799198"
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"type": "PubMed",
"id": "20406883",
"url": "https://glygen.org/publication/PubMed/20406883"
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]
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"title": "Assembly factors of human mitochondrial complex I and their defects in disease.",
"journal": "IUBMB life",
"date": "2010",
"authors": "Mckenzie M, Ryan MT",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-6799198",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6799198"
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"type": "PubMed",
"id": "20552642",
"url": "https://glygen.org/publication/PubMed/20552642"
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]
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"title": "High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.",
"journal": "Nature genetics",
"date": "2010",
"authors": "Calvo SE, Tucker EJ, Compton AG, Kirby DM, Crawford G, Burtt NP, Rivas M, Guiducci C, Bruno DL, Goldberger OA, Redman MC, Wiltshire E, Wilson CJ, Altshuler D, Gabriel SB, Daly MJ, Thorburn DR, Mootha VK",
"evidence": [
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"database": "UniProtKB",
"id": "P03905",
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{
"type": "PubMed",
"id": "20818383",
"url": "https://glygen.org/publication/PubMed/20818383"
}
]
},
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"title": "Understanding mitochondrial complex I assembly in health and disease.",
"journal": "Biochimica et biophysica acta",
"date": "2012",
"authors": "Mimaki M, Wang X, McKenzie M, Thorburn DR, Ryan MT",
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"database": "Reactome",
"id": "R-HSA-6799198",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6799198"
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"type": "PubMed",
"id": "21924235",
"url": "https://glygen.org/publication/PubMed/21924235"
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{
"title": "A conserved START domain coenzyme Q-binding polypeptide is required for efficient Q biosynthesis, respiratory electron transport, and antioxidant function in Saccharomyces cerevisiae.",
"journal": "Biochimica et biophysica acta",
"date": "2013",
"authors": "Allan CM, Hill S, Morvaridi S, Saiki R, Johnson JS, Liau WS, Hirano K, Kawashima T, Ji Z, Loo JA, Shepherd JN, Clarke CF",
"evidence": [
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"database": "Reactome",
"id": "R-HSA-611105",
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"type": "PubMed",
"id": "23270816",
"url": "https://glygen.org/publication/PubMed/23270816"
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"title": "NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.",
"journal": "Neurology",
"date": "2013",
"authors": "Kevelam SH, Rodenburg RJ, Wolf NI, Ferreira P, Lunsing RJ, Nijtmans LG, Mitchell A, Arroyo HA, Rating D, Vanderver A, van Berkel CG, Abbink TE, Heutink P, van der Knaap MS",
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"database": "Reactome",
"id": "R-HSA-6799198",
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"type": "PubMed",
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"url": "https://glygen.org/publication/PubMed/23553477"
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]
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"title": "Molecular chaperone TRAP1 regulates a metabolic switch between mitochondrial respiration and aerobic glycolysis.",
"journal": "Proceedings of the National Academy of Sciences of the United States of America",
"date": "2013",
"authors": "Yoshida S, Tsutsumi S, Muhlebach G, Sourbier C, Lee MJ, Lee S, Vartholomaiou E, Tatokoro M, Beebe K, Miyajima N, Mohney RP, Chen Y, Hasumi H, Xu W, Fukushima H, Nakamura K, Koga F, Kihara K, Trepel J, Picard D, Neckers L",
"evidence": [
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"database": "Reactome",
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"type": "PubMed",
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"title": "The mitochondrial chaperone TRAP1 promotes neoplastic growth by inhibiting succinate dehydrogenase.",
"journal": "Cell metabolism",
"date": "2013",
"authors": "Sciacovelli M, Guzzo G, Morello V, Frezza C, Zheng L, Nannini N, Calabrese F, Laudiero G, Esposito F, Landriscina M, Defilippi P, Bernardi P, Rasola A",
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"database": "Reactome",
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"type": "PubMed",
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]
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"title": "Protonmotive redox mechanism of the cytochrome b-c1 complex in the respiratory chain: protonmotive ubiquinone cycle.",
"journal": "FEBS letters",
"date": "1975",
"authors": "Mitchell P",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-611105",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105"
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"type": "PubMed",
"id": "239860",
"url": "https://glygen.org/publication/PubMed/239860"
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]
},
{
"title": "Assembly factors for the membrane arm of human complex I.",
"journal": "Proceedings of the National Academy of Sciences of the United States of America",
"date": "2013",
"authors": "Andrews B, Carroll J, Ding S, Fearnley IM, Walker JE",
"evidence": [
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"database": "Reactome",
"id": "R-HSA-6799198",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6799198"
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"type": "PubMed",
"id": "24191001",
"url": "https://glygen.org/publication/PubMed/24191001"
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]
},
{
"title": "Inhibition of succinate dehydrogenase by the mitochondrial chaperone TRAP1 has anti-oxidant and anti-apoptotic effects on tumor cells.",
"journal": "Oncotarget",
"date": "2014",
"authors": "Guzzo G, Sciacovelli M, Bernardi P, Rasola A",
"evidence": [
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"database": "Reactome",
"id": "R-HSA-611105",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105"
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"type": "PubMed",
"id": "25564869",
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]
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{
"title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.",
"journal": "Analytical chemistry",
"date": "2017",
"authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X",
"evidence": [
{
"database": "O-GlcNAc Database",
"id": "P03905",
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"type": "PubMed",
"id": "28510447",
"url": "https://glygen.org/publication/PubMed/28510447"
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]
},
{
"title": "Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.",
"journal": "Science (New York, N.Y.)",
"date": "1988",
"authors": "Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, Elsas LJ 2nd, Nikoskelainen EK",
"evidence": [
{
"database": "UniProtKB",
"id": "P03905",
"url": "https://www.uniprot.org/uniprot/P03905"
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{
"type": "PubMed",
"id": "3201231",
"url": "https://glygen.org/publication/PubMed/3201231"
}
]
},
{
"title": "Dissecting the Roles of Mitochondrial Complex I Intermediate Assembly Complex Factors in the Biogenesis of Complex I.",
"journal": "Cell reports",
"date": "2020",
"authors": "Formosa LE, Muellner-Wong L, Reljic B, Sharpe AJ, Jackson TD, Beilharz TH, Stojanovski D, Lazarou M, Stroud DA, Ryan MT",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-6799198",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6799198"
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"type": "PubMed",
"id": "32320651",
"url": "https://glygen.org/publication/PubMed/32320651"
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]
},
{
"title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.",
"journal": "Analytical and bioanalytical chemistry",
"date": "2021",
"authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM",
"evidence": [
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"database": "O-GlcNAc Database",
"id": "P03905",
"url": "https://www.oglcnac.mcw.edu/search/?query_protein=P03905"
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"type": "PubMed",
"id": "34725712",
"url": "https://glygen.org/publication/PubMed/34725712"
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]
},
{
"title": "Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase.",
"journal": "Nature",
"date": "1985",
"authors": "Chomyn A, Mariottini P, Cleeter M W, Ragan C I, Matsuno-Yagi A, Hatefi Y, Doolittle R F, Attardi G",
"evidence": [
{
"database": "UniProtKB",
"id": "P03905",
"url": "https://www.uniprot.org/uniprot/P03905"
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"type": "PubMed",
"id": "3921850",
"url": "https://glygen.org/publication/PubMed/3921850"
}
]
},
{
"title": "Studies on the mechanims of oxidative phosphorylation. IX. Effect of cytochrome c on energy-linked processes.",
"journal": "The Journal of biological chemistry",
"date": "1966",
"authors": "MacLennan DH, Lenaz G, Szarkowska L",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-611105",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105"
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"type": "PubMed",
"id": "4288886",
"url": "https://glygen.org/publication/PubMed/4288886"
}
]
},
{
"title": "Mitochondrial DNA sequences of primates: tempo and mode of evolution.",
"journal": "J. Mol. Evol.",
"date": "1982",
"authors": "Brown W M, Prager E M, Wang A, Wilson A C",
"evidence": [
{
"database": "UniProtKB",
"id": "P03905",
"url": "https://www.uniprot.org/uniprot/P03905"
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"type": "PubMed",
"id": "6284948",
"url": "https://glygen.org/publication/PubMed/6284948"
}
]
},
{
"title": "Sequence and organization of the human mitochondrial genome.",
"journal": "Nature",
"date": "1981",
"authors": "Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJ, Staden R, Young IG",
"evidence": [
{
"database": "UniProtKB",
"id": "P03905",
"url": "https://www.uniprot.org/uniprot/P03905"
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{
"type": "PubMed",
"id": "7219534",
"url": "https://glygen.org/publication/PubMed/7219534"
}
]
},
{
"title": "Lack of assembly of mitochondrial DNA-encoded subunits of respiratory NADH dehydrogenase and loss of enzyme activity in a human cell mutant lacking the mitochondrial ND4 gene product.",
"journal": "The EMBO journal",
"date": "1993-08",
"authors": "Hofhaus G, Attardi G",
"evidence": [
{
"database": "UniProtKB",
"id": "P03905",
"url": "https://www.uniprot.org/uniprot/P03905"
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{
"type": "PubMed",
"id": "8344246",
"url": "https://glygen.org/publication/PubMed/8344246"
}
]
},
{
"title": "Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia.",
"journal": "American journal of human genetics",
"date": "1996",
"authors": "De Vries DD, Went LN, Bruyn GW, Scholte HR, Hofstra RM, Bolhuis PA, van Oost BA",
"evidence": [
{
"database": "UniProtKB",
"id": "P03905",
"url": "https://www.uniprot.org/uniprot/P03905"
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{
"type": "PubMed",
"id": "8644732",
"url": "https://glygen.org/publication/PubMed/8644732"
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]
},
{
"title": "Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations.",
"journal": "Human mutation",
"date": "1998",
"authors": "Sudoyo H, Sitepu M, Malik S, Poesponegoro HD, Marzuki S",
"evidence": [
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"database": "UniProtKB",
"id": "P03905",
"url": "https://www.uniprot.org/uniprot/P03905"
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"type": "PubMed",
"id": "9452107",
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"title": "Cloning of the human mitochondrial 51 kDa subunit (NDUFV1) reveals a 100% antisense homology of its 3'UTR with the 5'UTR of the gamma-interferon inducible protein (IP-30) precursor: is this a link between mitochondrial myopathy and inflammation?",
"journal": "Biochemical and biophysical research communications",
"date": "1998",
"authors": "Schuelke M, Loeffen J, Mariman E, Smeitink J, van den Heuvel L",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-6799198",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6799198"
}
],
"reference": [
{
"type": "PubMed",
"id": "9571201",
"url": "https://glygen.org/publication/PubMed/9571201"
}
]
},
{
"title": "cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed.",
"journal": "Biochemical and biophysical research communications",
"date": "1998",
"authors": "Loeffen JL, Triepels RH, van den Heuvel LP, Schuelke M, Buskens CA, Smeets RJ, Trijbels JM, Smeitink JA",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-611105",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105"
}
],
"reference": [
{
"type": "PubMed",
"id": "9878551",
"url": "https://glygen.org/publication/PubMed/9878551"
}
]
}
],
"pathway": [
{
"id": "hsa:4538",
"name": "",
"url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4538",
"resource": "KEGG Pathway"
},
{
"id": "R-HSA-611105",
"name": "Respiratory electron transport",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105",
"resource": "Reactome",
"description": "Respiratory electron transport"
},
{
"id": "R-HSA-6799198",
"name": "Complex I biogenesis",
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"resource": "Reactome",
"description": "Complex I biogenesis"
}
],
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{
"uniprot_canonical_ac": "O79881-1",
"protein_name": "NADH-ubiquinone oxidoreductase chain 4",
"gene_name": "MT-ND4",
"tax_id": 9823,
"organism": "Sus scrofa",
"sequence": {
"sequence": "MLKIIIPTTMLLPMTWMSKHNMIWINATVHSLLISLISLSLLNQLGENSLNFSLTFFSDSLSAPLLVLTTWLLPLMLMASQSHLSKETTTRKKLYITMLILLQLFLIMTFTATELILFYILFEATLVPTLIIITRWGNQTERLNAGLYFLFYTLAGSLPLLVALVYIQNTTGSLNFLIIHYWSHPLSNSWSNIFMWLACIMAFMVKMPLYGLHLWLPKAHVEAPIAGSMVLAAVLLKLGGYGMMRITTILNPLTNYMAYPFLMLSMWGMIMTSSICLRQTDLKSLIAYSSVSHMALVIVAIMIQTPWSFMGATALMIAHGLTSSMLFCLANTNYERVHSRTMILARGLQTLLPLMATWWLMASLTNLALPPSINLIGELFIITASFSWSNITIILMGMNMMITALYSLYMLITTQRGKYTHHINNIKASFTRENALMALHILPLLLLTLNPKMILGPLY",
"length": 459
},
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{
"id": "P03905",
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}
],
"common_name": "Pig"
},
{
"uniprot_canonical_ac": "P03911-1",
"protein_name": "NADH-ubiquinone oxidoreductase chain 4",
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"sequence": {
"sequence": "MLKIILPSLMLLPLTWLSSPKKTWTNVTSYSFLISLTSLTLLWQTDENYKNFSNMFSSDPLSTPLIILTAWLLPLMLMASQNHLKKDNNVLQKLYISMLISLQILLIMTFSATELIMFYILFEATLIPTLIIITRWGNQTERLNAGIYFLFYTLIGSIPLLIALILIQNHVGTLNLMILSFTTHTLDASWSNNLLWLACMMAFLIKMPLYGVHLWLPKAHVEAPIAGSMILAAILLKLGSYGMIRISIILDPLTKYMAYPFILLSLWGMIMTSSICLRQTDLKSLIAYSSVSHMALVIASIMIQTPWSFMGATMLMIAHGLTSSLLFCLANSNYERIHSRTMIMARGLQMVFPLMATWWLMASLANLALPPSINLMGELFITMSLFSWSNFTIILMGINIIITGMYSMYMIITTQRGKLTNHMINLQPSHTRELTLMALHMIPLILLTTSPKLITGLTM",
"length": 459
},
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{
"id": "45916804",
"url": "http://www.informatics.jax.org/homology/45916804",
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"tax_id": 10116,
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"sequence": "MLKIIFPSIMLLPLTWLSANKKIWTNVTSYSFLVSLLSLSLLWQNDENYLNFSVMFSSDPLSTPLIILTTWLLPLMMLASQNHMKKENMMHQKLYISMLISLQILLIMTFSATELILFYILFEATLIPTLIIITRWGNQTERLNAGIYFLFYTLIGSIPLLIALISIQNSMGTLNFLILSLTTHPLPSTWSNTILWLACMMAFMIKMPLYGVHLWLPKAHVEAPIAGSMILAAILLKLGGYGMMRVSIILDPLTKSLAYPFIILSLWGMIMTSSICLRQTDLKSLIAYSSVSHMALVITAIMIQTPWSFMGATMLMIAHGLTSSLLFCLANTNYERIHSRTMIMARGLQMIFPLMATWWLLASLANLALPPLINLMGELFIVMATFSWSNPSIILMATNIVITGIYSMYMIITTQRGKLTSHMNNLQPSHTRELTLMALHIIPLMLLTINPKLITGLTM",
"length": 459
},
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],
"common_name": "Rat"
},
{
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"protein_name": "NADH-ubiquinone oxidoreductase chain 4",
"gene_name": "mt:ND4",
"tax_id": 7227,
"organism": "Drosophila melanogaster",
"sequence": {
"sequence": "MLKIIFFLLFLIPFCFINNMYWMVQIMMFFISFIFLLMNNFMNYWSEISYFLGCDMLSYGLILLSLWICSLMLLASEMINKHNNYKNLFLLNIIILLLLLILTFSSMSLFMFYLFFESSLIPTLFLILGWGYQPERLQAGLYLLFYTLLVSLPMLIGIFYLMNKIGSMNFYLMNNFMFNYDLLYFCLLCAFLVKMPMFLVHLWLPKAHVEAPVSGSMILAGIMLKLGGYGMLRVISFLQLMNLKYSFVWISISLVGGVLVSLVCLRQTDLKALIAYSSVAHMGIVLSGLLTMTYWGLCGSYTLMIAHGLCSSGLFCLANVSYERLGSRSMLINKGLLNFMPSMTLWWFLLSSANMAAPPTLNLLGEIYLLNSIVSWSWISMILLSFLSFFSAAYTLYLYSFSQHGKLFSGVYSFSSGKIREYLLMLLHWLPLNLLILKSESFMLWL",
"length": 446
},
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}
],
"common_name": "Fruit fly"
}
],
"go_annotation": {
"categories": [
{
"name": "Biological Process",
"total": 10,
"go_terms": [
{
"name": "in utero embryonic development",
"id": "GO:0001701",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701",
"evidence": [
{
"database": "UniProtKB",
"id": "P03905",
"url": "https://www.uniprot.org/uniprot/P03905"
}
],
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{
"name": "response to nicotine",
"id": "GO:0035094",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035094",
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{
"database": "UniProtKB",
"id": "P03905",
"url": "https://www.uniprot.org/uniprot/P03905"
}
],
"pmid": ""
},
{
"name": "response to ethanol",
"id": "GO:0045471",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471",
"evidence": [
{
"database": "UniProtKB",
"id": "P03905",
"url": "https://www.uniprot.org/uniprot/P03905"
}
],
"pmid": ""
},
{
"name": "response to hypoxia",
"id": "GO:0001666",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666",
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"database": "UniProtKB",
"id": "P03905",
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}
],
"pmid": ""
},
{
"name": "mitochondrial respiratory chain complex I assembly",
"id": "GO:0032981",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032981",
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{
"database": "UniProtKB",
"id": "P03905",
"url": "https://www.uniprot.org/uniprot/P03905"
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],
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{
"name": "mitochondrial electron transport, NADH to ubiquinone",
"id": "GO:0006120",
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{
"database": "UniProtKB",
"id": "P03905",
"url": "https://www.uniprot.org/uniprot/P03905"
}
],
"pmid": ""
},
{
"name": "proton motive force-driven mitochondrial ATP synthesis",
"id": "GO:0042776",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042776",
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{
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"id": "P03905",
"url": "https://www.uniprot.org/uniprot/P03905"
}
],
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{
"name": "cerebellum development",
"id": "GO:0021549",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021549",
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"id": "P03905",
"url": "https://www.uniprot.org/uniprot/P03905"
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{
"name": "aerobic respiration",
"id": "GO:0009060",
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"id": "P03905",
"url": "https://www.uniprot.org/uniprot/P03905"
}
],
"pmid": ""
},
{
"name": "electron transport coupled proton transport",
"id": "GO:0015990",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015990",
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"id": "P03905",
"url": "https://www.uniprot.org/uniprot/P03905"
}
],
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}
]
},
{
"name": "Cellular Component",
"total": 2,
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{
"name": "mitochondrial inner membrane",
"id": "GO:0005743",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743",
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"id": "P03905",
"url": "https://www.uniprot.org/uniprot/P03905"
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{
"name": "mitochondrial respiratory chain complex I",
"id": "GO:0005747",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005747",
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{
"database": "UniProtKB",
"id": "P03905",
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}
],
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}
]
},
{
"name": "Molecular Function",
"total": 2,
"go_terms": [
{
"name": "NADH dehydrogenase (ubiquinone) activity",
"id": "GO:0008137",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008137",
"evidence": [
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"database": "UniProtKB",
"id": "P03905",
"url": "https://www.uniprot.org/uniprot/P03905"
}
],
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{
"name": "ubiquinone binding",
"id": "GO:0048039",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048039",
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{
"database": "UniProtKB",
"id": "P03905",
"url": "https://www.uniprot.org/uniprot/P03905"
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],
"pmid": ""
}
]
}
]
},
"pro_annotation": [],
"site_annotation": [
{
"start_pos": 26,
"end_pos": 28,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 390,
"end_pos": 392,
"annotation": "n_glycosylation_sequon"
}
],
"ptm_annotation": [],
"interactions": [],
"reactions": [
{
"id": "29091",
"name": "",
"equation": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+)",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P03889-1",
"P11662-1",
"P19234-1",
"P05507-1",
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"P03921-1",
"P03893-1",
"P03911-1",
"P03925-1",
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"Q9DC70-1",
"P03903-1",
"Q91YT0-1",
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"Q9VF27-1",
"Q9VZU4-1",
"P03896-1",
"P18929-1",
"P18933-1",
"Q9VMI3-1"
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"evidence": [
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"id": "29091",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/29091"
}
]
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{
"id": "R-HSA-163217",
"name": "Complex I oxidises NADH to NAD+, reduces CoQ to QH2",
"equation": "",
"summary": "Complex I (NADH:ubiquinone oxidoreductase or NADH dehydrogenase) utilizes NADH formed from glycolysis and the TCA cycle to pump protons out of the mitochondrial matrix. It is the largest enzyme complex in the electron transport chain, containing 45 subunits. Seven subunits (ND1-6, ND4L) are encoded by mitochondrial DNA (Loeffen et al [1998]), the remainder are encoded in the nucleus. The enzyme has a FMN prosthetic group and 8 Iron-Sulfur (Fe-S) clusters. The electrons from NADH oxidation pass through the flavin (FMN) and Fe-S clusters to ubiquinone (CoQ). This electron transfer is coupled with the translocation of protons from the mitochondrial matrix to the intermembrane space. For each electron transferred, 2 protons can be pumped out of the matrix. As there are 2 electrons transferred, 4 protons can be pumped out.
Complex I is made up of 3 sub-complexes - Iron-Sulfur protein fraction (IP), Flavoprotein fraction (FP) and the Hydrophobic protein fraction (HP), probably arranged in an L-shaped structure with the IP and FP fractions protruding into the mitochondrial matrix and the HP arm lying within the inner mitochondrial membrane. The overall reaction can be summed as below:
NADH + Ubiquinone + 5H+ (mito. matrix) = NAD+ + Ubiquinol + 4H+ (intermemb. space)
The electrons from complex I are transferred to ubiquinone (Coenzyme Q, CoQ), a small mobile carrier of electrons located within the inner membrane. Ubiquinone is reduced to ubiquinol (QH2) during this process.
Mitochondrial coenzyme Q-binding protein COQ10 homologs A and B (COQ10A and B) are thought to be required for correct coenzyme CoQ in the respiratory chain. Their function in humans is unknown but the yeast model suggests functions in facilitating de novo CoQ biosynthesis and in delivering it to one or more complexes of the respiratory electron transport chain (Barros et al. 2005, Allan et al. 2013).",
"cellular_location": "mitochondrial inner membrane",
"input_participant_list": [
"R-ALL-73663"
],
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"P19404-1",
"P03891-1",
"P03905-1",
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"O75306-1",
"O75489-1",
"P03886-1",
"P03897-1",
"P49821-1",
"P03915-1",
"P03923-1"
],
"evidence": [
{
"id": "R-HSA-163217",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163217"
}
]
},
{
"id": "R-HSA-6799179",
"name": "Peripheral arm subunits bind the 815kDa complex to form a 980kDa complex",
"equation": "",
"summary": "Subunits NDUFA12, NDUFS1, 4, 6, NDUFV1, 2 and 3 with the assembly factor NDUFAF2 comprises the peripheral arm, called the flavoprotein (FP) subcomplex. In addition, remaining subunits such as NDUFS5 join here (Mimaki et al. 2012).",
"cellular_location": "mitochondrial inner membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P19404-1",
"P03891-1",
"P03905-1",
"P28331-1",
"O00217-1",
"O75251-1",
"O75306-1",
"O75489-1",
"P03886-1",
"Q7L592-1",
"P03897-1",
"Q9H845-1",
"P49821-1",
"Q5TEU4-1",
"P03915-1",
"P03923-1"
],
"evidence": [
{
"id": "R-HSA-6799179",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6799179"
}
]
},
{
"id": "R-HSA-6799196",
"name": "The MCIA complex, NDUFAF2-7 all dissociate from the 980kDa complex, resulting in Complex I",
"equation": "",
"summary": "In the last step, the MCIA complex and it is assumed all of the assembly factors (NDUFAF2-7, TIMMDC1) dissociate from the 980kDa complex to leave mature Complex I (Mckenzie & Ryan 2010, Andrews et al. 2013).",
"cellular_location": "mitochondrial inner membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P19404-1",
"P03891-1",
"P03905-1",
"P28331-1",
"O00217-1",
"O75251-1",
"O75306-1",
"O75489-1",
"P03886-1",
"Q7L592-1",
"P03897-1",
"Q9H845-1",
"P49821-1",
"Q5TEU4-1",
"P03915-1",
"P03923-1"
],
"evidence": [
{
"id": "R-HSA-6799196",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6799196"
}
]
},
{
"id": "R-HSA-6799197",
"name": "ND4, ND5 bind the 550kDa complex to form the 815kDa complex",
"equation": "",
"summary": "Distal components of the membrane arm MT-ND4 and 5 associate with the 550kDa complex to form the 815kDa complex (Mckenzie & Ryan 2010, Andrews et al. 2013).",
"cellular_location": "mitochondrial inner membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P03891-1",
"P03905-1",
"O00217-1",
"O75251-1",
"O75306-1",
"O75489-1",
"P03886-1",
"Q7L592-1",
"P03897-1",
"Q9H845-1",
"Q5TEU4-1",
"P03915-1",
"P03923-1"
],
"evidence": [
{
"id": "R-HSA-6799197",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6799197"
}
]
}
],
"reaction_participants": [
{
"participant_id": "R-ALL-73663",
"participant_name": "CoQ [mitochondrial inner membrane]",
"crossref": [
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"id": "46245",
"database": "ChEBI",
"url": ""
},
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"database": "ZINC",
"url": ""
},
{
"id": "C00399",
"database": "COMPOUND",
"url": ""
},
{
"id": "C11378",
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"url": ""
},
{
"id": "HMDB0001072",
"database": "HMDB Metabolite",
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},
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{
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]
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{
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]
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]
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{
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}
]
}
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]
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{
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]
}
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{
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]
}
]
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]
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{
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]
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]
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{
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}
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]
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{
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]
}
]
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]
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{
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]
}
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]
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{
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]
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]
}
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]
},
{
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{
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]
}
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{
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]
}
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]
},
{
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]
}
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}
]
},
{
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]
}
]
},
{
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}
]
},
{
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]
}
]
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}
]
},
{
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]
}
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{
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]
},
{
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]
}
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]
},
{
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]
}
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{
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]
},
{
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]
}
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]
},
{
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]
}
]
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]
},
{
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]
}
]
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{
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]
}
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]
},
{
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]
}
]
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{
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]
},
{
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]
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]
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{
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{
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]
},
{
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]
}
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{
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{
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]
},
{
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]
}
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{
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]
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]
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]
},
{
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]
}
]
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{
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{
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]
},
{
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]
}
]
},
{
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{
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]
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{
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