{
"uniprot_canonical_ac": "P00395-1",
"uniprot_ac": "P00395",
"uniprot_id": "COX1_HUMAN",
"mass": {
"chemical_mass": 57041.0,
"monoisotopic_mass": 57041.0
},
"refseq": {
"ac": "YP_003024028",
"name": "cytochrome c oxidase subunit I",
"summary": "",
"url": "https://www.ncbi.nlm.nih.gov/protein/YP_003024028"
},
"gene_names": [
{
"name": "MT-CO1",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/P00395",
"id": "P00395"
},
{
"name": "COI; MTCO1",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/YP_003024028",
"id": "YP_003024028"
},
{
"name": "COI",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P00395",
"id": "P00395"
},
{
"name": "COX1",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/YP_003024028",
"id": "YP_003024028"
},
{
"name": "COXI",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P00395",
"id": "P00395"
},
{
"name": "MTCO1",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P00395",
"id": "P00395"
}
],
"protein_names": [
{
"name": "Cytochrome c oxidase subunit 1",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "P00395"
},
{
"name": "7.1.1.9",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P00395"
},
{
"name": "Cytochrome c oxidase polypeptide I",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P00395"
},
{
"name": "cytochrome c oxidase subunit I",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/YP_003024028",
"id": "YP_003024028"
}
],
"function": [
{
"annotation": "Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix.",
"evidence": [
{
"database": "UniProtKB",
"id": "P00395",
"url": "https://www.uniprot.org/uniprot/P00395#function"
},
{
"database": "UniProtKB",
"id": "P00401",
"url": "https://www.uniprot.org/uniprot/P00401#function"
}
]
}
],
"disease": [
{
"disease_id": "DOID:0070491",
"recommended_name": {
"id": "DOID:0070491",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0070491",
"name": "mitochondrial complex IV deficiency nuclear type 1",
"description": "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.2."
},
"synonyms": [
{
"id": "DOID:0070491",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0070491",
"name": "MC4DN1",
"description": ""
},
{
"id": "MONDO:0009068",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009068",
"name": "cytochrome-c oxidase deficiency disease",
"description": "A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis."
},
{
"id": "MONDO:0009068",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009068",
"name": "cytochrome-C oxidase deficiency",
"description": ""
},
{
"id": "MONDO:0009068",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009068",
"name": "cytochrome-c oxidase deficiency disease",
"description": ""
},
{
"id": "MONDO:0009068",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009068",
"name": "isolated COX deficiency",
"description": ""
},
{
"id": "MONDO:0009068",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009068",
"name": "isolated mitochondrial respiratory chain complex IV deficiency",
"description": ""
},
{
"id": "MONDO:0009068",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009068",
"name": "mitochondrial complex IV deficiency",
"description": ""
},
{
"id": "MONDO:0009068",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009068",
"name": "mitochondrial complex IV deficiency, nuclear type 1",
"description": ""
},
{
"id": "MONDO:0009068",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009068",
"name": "COX deficiency",
"description": ""
},
{
"id": "MONDO:0009068",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009068",
"name": "Complex 4 mitochondrial respiratory chain deficiency",
"description": ""
},
{
"id": "MONDO:0009068",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009068",
"name": "Complex IV deficiency",
"description": ""
},
{
"id": "MONDO:0009068",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009068",
"name": "Cox deficiency",
"description": ""
},
{
"id": "MONDO:0009068",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009068",
"name": "cytochrome C oxidase deficiency",
"description": ""
},
{
"id": "MONDO:0009068",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009068",
"name": "deficiency of mitochondrial respiratory chain complex4",
"description": ""
},
{
"id": "MONDO:0009068",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009068",
"name": "isolated cytochrome C oxidase deficiency",
"description": ""
},
{
"id": "MONDO:0009068",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009068",
"name": "mitochondrial Complex 4 deficiency",
"description": ""
},
{
"id": "MIM:220110",
"resource": "MIM",
"url": "https://www.omim.org/entry/220110",
"name": "Mitochondrial complex IV deficiency",
"description": "Mitochondrial complex IV deficiency"
}
],
"evidence": [
{
"id": "220110",
"database": "MIM",
"url": "https://www.omim.org/entry/220110"
}
]
},
{
"disease_id": "DOID:0080108",
"recommended_name": {
"id": "DOID:0080108",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0080108",
"name": "myoglobinuria",
"description": "A myopathy that is characterized by an increased urinary excretion of myoglobin."
},
"synonyms": [
{
"id": "MONDO:0009992",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009992",
"name": "myoglobinuria, acute recurrent, autosomal recessive",
"description": ""
},
{
"id": "MONDO:0009992",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009992",
"name": "myoglobinuria, acute recurrent, autosomal recessive",
"description": ""
},
{
"id": "MONDO:0009992",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009992",
"name": "myoglobinuria, familial paroxysmal paralytic",
"description": ""
},
{
"id": "MONDO:0009992",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009992",
"name": "rhabdomyolysis, acute recurrent",
"description": ""
},
{
"id": "MONDO:0008046",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008046",
"name": "autosomal dominant myoglobinuria",
"description": "Autosomal dominant myoglobinuria is a rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997."
},
{
"id": "MONDO:0008046",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008046",
"name": "myoglobinuria, autosomal dominant",
"description": ""
},
{
"id": "MONDO:0010791",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010791",
"name": "myoglobinuria, recurrent",
"description": "An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection (febrile illness). Hypertonia, muscle stiffness and muscle pain, impaired kidney function and elevated levels of serum creatine kinase are common clinical features. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. Recently, mutations in the LPIN1 gene (chromosome 2p21) have been reported to have a causative role in three patients with recurrent episodes of myoglobinuria, originating from consanguineous families. The disorder may occur sporadically, or be inherited in either a recessive or dominant manner."
},
{
"id": "MONDO:0010791",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010791",
"name": "myoglobinuria, recurrent",
"description": ""
},
{
"id": "MONDO:0010791",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010791",
"name": "myoglobinuria recurrent",
"description": ""
},
{
"id": "MIM:268200",
"resource": "MIM",
"url": "https://www.omim.org/entry/268200",
"name": "Myoglobinuria, acute recurrent, autosomal recessive",
"description": "Myoglobinuria, acute recurrent, autosomal recessive"
},
{
"id": "MIM:550500",
"resource": "MIM",
"url": "https://www.omim.org/entry/550500",
"name": "Recurrent myoglobinuria mitochondrial",
"description": "Recurrent myoglobinuria mitochondrial"
}
],
"evidence": [
{
"id": "550500",
"database": "MIM",
"url": "https://www.omim.org/entry/550500"
}
]
},
{
"disease_id": "DOID:0111751",
"recommended_name": {
"id": "DOID:0111751",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111751",
"name": "mitochondrial nonsyndromic sensorineural deafness",
"description": "A sensorineural hearing loss that has_material_basis_in mutation in one of several different mitochondrial genes including; MTRNR1, MTTS1, MTCO1, MTTH, MTND1, and MTTI."
},
"synonyms": [
{
"id": "MONDO:0010779",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010779",
"name": "mitochondrial non-syndromic sensorineural hearing loss",
"description": ""
},
{
"id": "MONDO:0010779",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010779",
"name": "deafness, isolated, due to mitochondrial transmission",
"description": ""
},
{
"id": "MONDO:0010779",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010779",
"name": "isolated mitochondrial neurosensory deafness",
"description": ""
},
{
"id": "MONDO:0010779",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010779",
"name": "isolated mitochondrial sensorineural deafness",
"description": ""
},
{
"id": "MONDO:0010779",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010779",
"name": "mitochondrial non-syndromic neurosensory deafness",
"description": ""
},
{
"id": "MONDO:0010779",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010779",
"name": "mitochondrial non-syndromic sensorineural deafness",
"description": ""
},
{
"id": "MONDO:0010779",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010779",
"name": "deafness, nonsyndromic sensorineural, mitochondrial",
"description": ""
},
{
"id": "MIM:500008",
"resource": "MIM",
"url": "https://www.omim.org/entry/500008",
"name": "Deafness, sensorineural, mitochondrial",
"description": "Deafness, sensorineural, mitochondrial"
}
],
"evidence": [
{
"id": "500008",
"database": "MIM",
"url": "https://www.omim.org/entry/500008"
}
]
},
{
"disease_id": "DOID:3762",
"recommended_name": {
"id": "DOID:3762",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3762",
"name": "cytochrome-c oxidase deficiency disease",
"description": "A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation."
},
"synonyms": [
{
"id": "DOID:3762",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3762",
"name": "MITOCHONDRIAL COMPLEX IV DEFICIENCY",
"description": ""
},
{
"id": "MONDO:0009068",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009068",
"name": "cytochrome-c oxidase deficiency disease",
"description": "A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis."
},
{
"id": "MONDO:0009068",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009068",
"name": "cytochrome-C oxidase deficiency",
"description": ""
},
{
"id": "MONDO:0009068",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009068",
"name": "cytochrome-c oxidase deficiency disease",
"description": ""
},
{
"id": "MONDO:0009068",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009068",
"name": "isolated COX deficiency",
"description": ""
},
{
"id": "MONDO:0009068",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009068",
"name": "isolated mitochondrial respiratory chain complex IV deficiency",
"description": ""
},
{
"id": "MONDO:0009068",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009068",
"name": "mitochondrial complex IV deficiency",
"description": ""
},
{
"id": "MONDO:0009068",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009068",
"name": "mitochondrial complex IV deficiency, nuclear type 1",
"description": ""
},
{
"id": "MONDO:0009068",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009068",
"name": "COX deficiency",
"description": ""
},
{
"id": "MONDO:0009068",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009068",
"name": "Complex 4 mitochondrial respiratory chain deficiency",
"description": ""
},
{
"id": "MONDO:0009068",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009068",
"name": "Complex IV deficiency",
"description": ""
},
{
"id": "MONDO:0009068",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009068",
"name": "Cox deficiency",
"description": ""
},
{
"id": "MONDO:0009068",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009068",
"name": "cytochrome C oxidase deficiency",
"description": ""
},
{
"id": "MONDO:0009068",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009068",
"name": "deficiency of mitochondrial respiratory chain complex4",
"description": ""
},
{
"id": "MONDO:0009068",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009068",
"name": "isolated cytochrome C oxidase deficiency",
"description": ""
},
{
"id": "MONDO:0009068",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009068",
"name": "mitochondrial Complex 4 deficiency",
"description": ""
},
{
"id": "MIM:220110",
"resource": "MIM",
"url": "https://www.omim.org/entry/220110",
"name": "Mitochondrial complex IV deficiency",
"description": "Mitochondrial complex IV deficiency"
}
],
"evidence": [
{
"id": "220110",
"database": "MIM",
"url": "https://www.omim.org/entry/220110"
}
]
},
{
"disease_id": "DOID:705",
"recommended_name": {
"id": "DOID:705",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:705",
"name": "Leber hereditary optic neuropathy",
"description": ""
},
"synonyms": [
{
"id": "DOID:705",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:705",
"name": "Leber's hereditary optic neuropathy",
"description": ""
},
{
"id": "DOID:705",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:705",
"name": "Leber's optic atrophy",
"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",
"name": "LHON",
"description": ""
},
{
"id": "MONDO:0010788",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010788",
"name": "Leber Hereditary optic atrophy",
"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",
"name": "Leber's hereditary optic neuropathy",
"description": ""
},
{
"id": "MONDO:0010788",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010788",
"name": "Leber's optic atrophy",
"description": ""
},
{
"id": "MONDO:0010788",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010788",
"name": "Lebers disease",
"description": ""
},
{
"id": "MONDO:0010788",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010788",
"name": "optic atrophy, Leber type",
"description": ""
},
{
"id": "MIM:535000",
"resource": "MIM",
"url": "https://www.omim.org/entry/535000",
"name": "Leber hereditary optic neuropathy",
"description": "Leber hereditary optic neuropathy"
}
],
"evidence": [
{
"id": "535000",
"database": "MIM",
"url": "https://www.omim.org/entry/535000"
}
]
},
{
"disease_id": "DOID:9256",
"recommended_name": {
"id": "DOID:9256",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9256",
"name": "colorectal cancer",
"description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
},
"synonyms": [
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
"description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of colorectum",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, advanced, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer with chromosomal instability, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
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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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{
"id": "MONDO:0012741",
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{
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{
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{
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},
{
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{
"id": "MONDO:0012244",
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{
"id": "MONDO:0012244",
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{
"id": "MONDO:0012244",
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{
"id": "MONDO:0012093",
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{
"id": "MONDO:0012093",
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},
{
"id": "MONDO:0012093",
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},
{
"id": "MONDO:0012093",
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"description": ""
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{
"id": "MONDO:0012093",
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{
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},
{
"id": "MONDO:0012094",
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},
{
"id": "MONDO:0012094",
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{
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{
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{
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{
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{
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{
"id": "MONDO:0012758",
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{
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{
"id": "MONDO:0012758",
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{
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},
{
"id": "MONDO:0011270",
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},
{
"id": "MONDO:0011270",
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"url": "https://monarchinitiative.org/disease/MONDO:0011270",
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},
{
"id": "MONDO:0011270",
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},
{
"id": "MONDO:0011270",
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},
{
"id": "MONDO:0011270",
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{
"id": "MONDO:0011270",
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},
{
"id": "MONDO:0012300",
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},
{
"id": "MONDO:0012300",
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},
{
"id": "MONDO:0012300",
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"name": "prostate cancer, hereditary, type 6",
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},
{
"id": "MONDO:0012300",
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},
{
"id": "MONDO:0012300",
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{
"id": "MONDO:0012620",
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},
{
"id": "MONDO:0012620",
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"name": "HPC10",
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},
{
"id": "MONDO:0012620",
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},
{
"id": "MONDO:0023122",
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"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate carcinoma",
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},
{
"id": "MONDO:0023122",
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"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate cancer",
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},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
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"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate carcinoma",
"description": ""
},
{
"id": "MONDO:0023122",
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"name": "prostate cancer, autosomal dominant, somatic mutation",
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},
{
"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": "P00395",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00395"
}
],
"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": "down",
"name": "Urinary bladder cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11054",
"evidence": [
{
"database": "BioXpress",
"id": "P00395",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00395"
}
],
"disease": [
{
"disease_id": "DOID:11054",
"recommended_name": {
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"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": [
{
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"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",
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"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00395"
}
],
"disease": [
{
"disease_id": "DOID:11934",
"recommended_name": {
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"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": "P00395",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00395"
}
],
"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": "P00395",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00395"
}
],
"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": "P00395",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00395"
}
],
"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": "No",
"trend": "up",
"name": "Kidney cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:263",
"evidence": [
{
"database": "BioXpress",
"id": "P00395",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00395"
}
],
"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": "P00395",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00395"
}
],
"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": "P00395",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00395"
}
],
"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",
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"annotation": "n_glycosylation_sequon"
},
{
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{
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"annotation": "n_glycosylation_sequon"
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{
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"reactions": [
{
"id": "11436",
"name": "",
"equation": "4 Fe(II)-[cytochrome c] + 8 H(+)(in) + O2 = 4 Fe(III)-[cytochrome c] + 4 H(+)(out) + 2 H2O",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P05505-1",
"P00406-1",
"P05503-1",
"P00395-1",
"P00414-1",
"P00403-1",
"P00416-1",
"P00397-1",
"P00405-1",
"P00401-1",
"P00410-1",
"P00420-1",
"O21049-1",
"O21042-1",
"P20609-1",
"P20610-1",
"P30815-1",
"P00417-1",
"P00408-1",
"P00399-1"
],
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"url": "https://www.rhea-db.org/rhea/11436"
}
]
},
{
"id": "R-HSA-163214",
"name": "Electron transfer from reduced cytochrome c to molecular oxygen",
"equation": "",
"summary": "Complex IV (COX, cytochrome c oxidase) contains the hemeprotein cytochrome a and a3. It also contains copper atoms which undergo a transition from Cu+ to Cu2+ during the transfer of electrons through the complex to molecular oxygen. A bimetallic centre containing a copper atom and a heme-linked iron protein binds oxygen after 4 electrons have been picked up. Water, the final product of oxygen reduction, is then released. Oxygen is the final electron acceptor in the respiratory chain. The overall reaction can be summed as
4Cyt c (red.) + 12H+ (in) + O2 = 4Cyt c (ox.) + 2H2O + 8H+ (out)
Four protons are taken up from the matrix side of the membrane to form the water (scalar protons). Wikstrom (1977) suggests 4 protons are additionally transferred out from the matrix to the intermembrane space.
COX ancillary proteins mediate membrane insertion, catalytic core processing, copper transport and insertion into core subunits and heme A biosynthesis (Stilburek et al. 2006, Fontanesi et al. 2006, Soto et al. 2012). To date, all Mendelian disorders presenting COX deficiency have been assigned to mutations in ancillary factors, with the exception of an infantile encephalomyopathy caused by a defective COX6B1 and an exocrine pancreatic insufficiency caused by a defective COX4I2 gene (Soto et al. 2012). Balsa et al have shown that NDUFA4, formerly considered to be a constituent of NADH dehydrogenase (Complex I), is instead a component of the cytochrome c oxidase (CIV) (Balsa et al. 2012). Patients with NDUFA4 mutations display COX deficiencies (Pitceathly et al. 2013).
Carbon monoxide (CO) readily inhibits oxygen consumption by mitochondrial cytochrome oxidase. This inhibition is responsible for much of its toxicity when it is applied externally to the body. However, CO has been implicated in normal cellular signalling, especially in anti-inflammatory effects. The addition of antioxidants or inhibition of complex III of the electron transport chain by antimycin A attenuates the inhibitory effects of CO on lipopolysaccharide (LPS)-induced NLRP3 formation and TNF-alpha secretion, and blocked CO-induced p38 MAPK phosphorylation. These effects may be mediated via inhibition of cytochrome c oxidase and its generation of mitochondrial reactive oxygen species (Alonso et al, 2003; Zuckerbraun et al, 2007; Cooper and Brown, 2008; Jung et al, 2014; Ishigami et al, 2017).",
"cellular_location": "mitochondrial inner membrane, mitochondrial intermembrane space, mitochondrial matrix",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P00395-1",
"P00414-1",
"P00403-1"
],
"evidence": [
{
"id": "R-HSA-163214",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163214"
}
]
},
{
"id": "R-HSA-9709406",
"name": "CO binds to Cytochrome c oxidase",
"equation": "",
"summary": "Carbon monoxide (CO) toxicity is the result of a combination of tissue hypoxia and direct CO-mediated damage at a cellular level, since not all the signs and symptoms presented can be explained only by the formation of carboxyhaemoglobin. CO binds to cytochrome c oxidase, the terminal enzyme in the electron transfer chain, reducing its activity. Regulation of reactive oxygen species (ROS) generation is possibly one of the key components in CO signaling and its interaction with mitochondria but also other heme proteins that generate ROS, such as NADPH oxidase (Alonso et al, 2003; Zuckerbraun et al, 2007; Ishigami et al, 2017; Motterlini and Foresti, 2017).",
"cellular_location": "mitochondrial inner membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P00395-1",
"P00414-1",
"P00403-1"
],
"evidence": [
{
"id": "R-HSA-9709406",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9709406"
}
]
},
{
"id": "R-HSA-9838627",
"name": "AFG3L2 binds mitochondrial inner membrane proteins",
"equation": "",
"summary": "AFG3L2 (m-AAA+) is a hexameric zinc metalloprotease that is anchored in the mitochondrial inner membrane and protrudes into the mitochondrial matrix (Koppen et al. 2007, Puchades et al. 2019). AFG3L2 is able to assemble as homohexamers or as heterohexamers with its paralog SPG7 (Paraplegin) (Atorino et al. 2003). Each AFG3L2 subunit has a membrane-proximal ATPase domain that unfolds proteins and a membrane-distal protease domain (Puchades et al. 2019). The substrate protein threads through the ATPase spiral of the AFG3L2 hexamer (Puchades et al. 2019) and is processively translocated and degraded in an ATP-dependent manner. AFG3L2 binds, unfolds, and degrades specific inner membrane proteins, including COX5A (Cesnekova et al. 2018), MT-CO1 (Cesnekova et al. 2018), and MT-ATP6 (Richter et al. 2015).",
"cellular_location": "mitochondrial inner membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9Y4W6-1",
"P00395-1"
],
"evidence": [
{
"id": "R-HSA-9838627",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9838627"
}
]
},
{
"id": "R-HSA-9839113",
"name": "AFG3L2 degrades mitochondrial inner membrane proteins",
"equation": "",
"summary": "AFG3L2 (m-AAA+) is a hexameric zinc metalloprotease that is anchored in the mitochondrial inner membrane and protrudes into the mitochondrial matrix (Koppen et al. 2007, Puchades et al. 2019). AFG3L2 is able to assemble as homohexamers or as heterohexamers with its paralog SPG7 (Paraplegin) (Atorino et al. 2003). Each AFG3L2 subunit has a membrane-proximal ATPase domain that unfolds proteins and a membrane-distal protease domain (Puchades et al. 2019). The substrate protein threads through the ATPase spiral of the AFG3L2 hexamer (Puchades et al. 2019) and is processively translocated and degraded in an ATP-dependent manner. AFG3L2 preferentially cleaves peptide bonds on the N-terminal side of hydrophobic residues (Ding et al. 2018). AFG3L2 binds and degrades specific inner membrane proteins, including COX5A (Cesnekova et al. 2018), MT-CO1 (Cesnekova et al. 2018), and MT-ATP6 (Richter et al. 2015).",
"cellular_location": "mitochondrial inner membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9Y4W6-1",
"P00395-1"
],
"evidence": [
{
"id": "R-HSA-9839113",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9839113"
}
]
}
],
"reaction_participants": [],
"reaction_enzymes": [
{
"uniprot_ac": "O21042",
"gene_name": "2",
"activity": [
{
"ec_number": "7.1.1.9",
"activity": "4 Fe(II)-[cytochrome c] + 8 H(+)(in) + O2 = 4 Fe(III)-[cytochrome c] + 4 H(+)(out) + 2 H2O.",
"evidence": [
{
"id": "O21042",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O21042"
}
]
},
{
"ec_number": "7.1.1.9",
"activity": "",
"evidence": [
{
"id": "O21042",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O21042"
}
]
}
]
},
{
"uniprot_ac": "O21049",
"gene_name": "cox3",
"activity": [
{
"ec_number": "7.1.1.9",
"activity": "4 Fe(II)-[cytochrome c] + 8 H(+)(in) + O2 = 4 Fe(III)-[cytochrome c] + 4 H(+)(out) + 2 H2O.",
"evidence": [
{
"id": "O21049",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O21049"
}
]
},
{
"ec_number": "7.1.1.9",
"activity": "",
"evidence": [
{
"id": "O21049",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O21049"
}
]
}
]
},
{
"uniprot_ac": "P00395",
"gene_name": "MT-CO1",
"activity": [
{
"ec_number": "7.1.1.9",
"activity": "4 Fe(II)-[cytochrome c] + 8 H(+)(in) + O2 = 4 Fe(III)-[cytochrome c] + 4 H(+)(out) + 2 H2O.",
"evidence": [
{
"id": "P00395",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00395"
}
]
},
{
"ec_number": "7.1.1.9",
"activity": "",
"evidence": [
{
"id": "P00395",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00395"
}
]
}
]
},
{
"uniprot_ac": "P00397",
"gene_name": "Mtco1",
"activity": [
{
"ec_number": "7.1.1.9",
"activity": "4 Fe(II)-[cytochrome c] + 8 H(+)(in) + O2 = 4 Fe(III)-[cytochrome c] + 4 H(+)(out) + 2 H2O.",
"evidence": [
{
"id": "P00397",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00397"
}
]
},
{
"ec_number": "7.1.1.9",
"activity": "",
"evidence": [
{
"id": "P00397",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00397"
}
]
}
]
},
{
"uniprot_ac": "P00399",
"gene_name": "mt:CoI",
"activity": [
{
"ec_number": "7.1.1.9",
"activity": "4 Fe(II)-[cytochrome c] + 8 H(+)(in) + O2 = 4 Fe(III)-[cytochrome c] + 4 H(+)(out) + 2 H2O.",
"evidence": [
{
"id": "P00399",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00399"
}
]
},
{
"ec_number": "7.1.1.9",
"activity": "",
"evidence": [
{
"id": "P00399",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00399"
}
]
}
]
},
{
"uniprot_ac": "P00401",
"gene_name": "COX1",
"activity": [
{
"ec_number": "7.1.1.9",
"activity": "4 Fe(II)-[cytochrome c] + 8 H(+)(in) + O2 = 4 Fe(III)-[cytochrome c] + 4 H(+)(out) + 2 H2O.",
"evidence": [
{
"id": "P00401",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00401"
}
]
},
{
"ec_number": "7.1.1.9",
"activity": "",
"evidence": [
{
"id": "P00401",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00401"
}
]
}
]
},
{
"uniprot_ac": "P00403",
"gene_name": "MT-CO2",
"activity": [
{
"ec_number": "7.1.1.9",
"activity": "4 Fe(II)-[cytochrome c] + 8 H(+)(in) + O2 = 4 Fe(III)-[cytochrome c] + 4 H(+)(out) + 2 H2O.",
"evidence": [
{
"id": "P00403",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00403"
}
]
},
{
"ec_number": "7.1.1.9",
"activity": "",
"evidence": [
{
"id": "P00403",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00403"
}
]
}
]
},
{
"uniprot_ac": "P00405",
"gene_name": "Mtco2",
"activity": [
{
"ec_number": "7.1.1.9",
"activity": "4 Fe(II)-[cytochrome c] + 8 H(+)(in) + O2 = 4 Fe(III)-[cytochrome c] + 4 H(+)(out) + 2 H2O.",
"evidence": [
{
"id": "P00405",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00405"
}
]
},
{
"ec_number": "7.1.1.9",
"activity": "",
"evidence": [
{
"id": "P00405",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00405"
}
]
}
]
},
{
"uniprot_ac": "P00406",
"gene_name": "Mtco2",
"activity": [
{
"ec_number": "7.1.1.9",
"activity": "4 Fe(II)-[cytochrome c] + 8 H(+)(in) + O2 = 4 Fe(III)-[cytochrome c] + 4 H(+)(out) + 2 H2O.",
"evidence": [
{
"id": "P00406",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00406"
}
]
},
{
"ec_number": "7.1.1.9",
"activity": "",
"evidence": [
{
"id": "P00406",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00406"
}
]
}
]
},
{
"uniprot_ac": "P00408",
"gene_name": "mt:CoII",
"activity": [
{
"ec_number": "7.1.1.9",
"activity": "4 Fe(II)-[cytochrome c] + 8 H(+)(in) + O2 = 4 Fe(III)-[cytochrome c] + 4 H(+)(out) + 2 H2O.",
"evidence": [
{
"id": "P00408",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00408"
}
]
},
{
"ec_number": "7.1.1.9",
"activity": "",
"evidence": [
{
"id": "P00408",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00408"
}
]
}
]
},
{
"uniprot_ac": "P00410",
"gene_name": "COX2",
"activity": [
{
"ec_number": "7.1.1.9",
"activity": "4 Fe(II)-[cytochrome c] + 8 H(+)(in) + O2 = 4 Fe(III)-[cytochrome c] + 4 H(+)(out) + 2 H2O.",
"evidence": [
{
"id": "P00410",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00410"
}
]
},
{
"ec_number": "7.1.1.9",
"activity": "",
"evidence": [
{
"id": "P00410",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00410"
}
]
}
]
},
{
"uniprot_ac": "P00414",
"gene_name": "MT-CO3",
"activity": [
{
"ec_number": "7.1.1.9",
"activity": "4 Fe(II)-[cytochrome c] + 8 H(+)(in) + O2 = 4 Fe(III)-[cytochrome c] + 4 H(+)(out) + 2 H2O.",
"evidence": [
{
"id": "P00414",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00414"
}
]
},
{
"ec_number": "7.1.1.9",
"activity": "",
"evidence": [
{
"id": "P00414",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00414"
}
]
}
]
},
{
"uniprot_ac": "P00416",
"gene_name": "mt-Co3",
"activity": [
{
"ec_number": "7.1.1.9",
"activity": "4 Fe(II)-[cytochrome c] + 8 H(+)(in) + O2 = 4 Fe(III)-[cytochrome c] + 4 H(+)(out) + 2 H2O.",
"evidence": [
{
"id": "P00416",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00416"
}
]
},
{
"ec_number": "7.1.1.9",
"activity": "",
"evidence": [
{
"id": "P00416",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00416"
}
]
}
]
},
{
"uniprot_ac": "P00417",
"gene_name": "mt:CoIII",
"activity": [
{
"ec_number": "7.1.1.9",
"activity": "4 Fe(II)-[cytochrome c] + 8 H(+)(in) + O2 = 4 Fe(III)-[cytochrome c] + 4 H(+)(out) + 2 H2O.",
"evidence": [
{
"id": "P00417",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00417"
}
]
},
{
"ec_number": "7.1.1.9",
"activity": "",
"evidence": [
{
"id": "P00417",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00417"
}
]
}
]
},
{
"uniprot_ac": "P00420",
"gene_name": "COX3",
"activity": [
{
"ec_number": "7.1.1.9",
"activity": "4 Fe(II)-[cytochrome c] + 8 H(+)(in) + O2 = 4 Fe(III)-[cytochrome c] + 4 H(+)(out) + 2 H2O.",
"evidence": [
{
"id": "P00420",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00420"
}
]
},
{
"ec_number": "7.1.1.9",
"activity": "",
"evidence": [
{
"id": "P00420",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00420"
}
]
}
]
},
{
"uniprot_ac": "P05503",
"gene_name": "Mtco1",
"activity": [
{
"ec_number": "7.1.1.9",
"activity": "4 Fe(II)-[cytochrome c] + 8 H(+)(in) + O2 = 4 Fe(III)-[cytochrome c] + 4 H(+)(out) + 2 H2O.",
"evidence": [
{
"id": "P05503",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P05503"
}
]
},
{
"ec_number": "7.1.1.9",
"activity": "",
"evidence": [
{
"id": "P05503",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P05503"
}
]
}
]
},
{
"uniprot_ac": "P05505",
"gene_name": "Mtco3",
"activity": [
{
"ec_number": "7.1.1.9",
"activity": "4 Fe(II)-[cytochrome c] + 8 H(+)(in) + O2 = 4 Fe(III)-[cytochrome c] + 4 H(+)(out) + 2 H2O.",
"evidence": [
{
"id": "P05505",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P05505"
}
]
},
{
"ec_number": "7.1.1.9",
"activity": "",
"evidence": [
{
"id": "P05505",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P05505"
}
]
}
]
},
{
"uniprot_ac": "P20609",
"gene_name": "cxgE",
"activity": [
{
"ec_number": "7.1.1.9",
"activity": "4 Fe(II)-[cytochrome c] + 8 H(+)(in) + O2 = 4 Fe(III)-[cytochrome c] + 4 H(+)(out) + 2 H2O.",
"evidence": [
{
"id": "P20609",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P20609"
}
]
},
{
"ec_number": "7.1.1.9",
"activity": "",
"evidence": [
{
"id": "P20609",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P20609"
}
]
}
]
},
{
"uniprot_ac": "P20610",
"gene_name": "cxgS",
"activity": [
{
"ec_number": "7.1.1.9",
"activity": "4 Fe(II)-[cytochrome c] + 8 H(+)(in) + O2 = 4 Fe(III)-[cytochrome c] + 4 H(+)(out) + 2 H2O.",
"evidence": [
{
"id": "P20610",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P20610"
}
]
},
{
"ec_number": "7.1.1.9",
"activity": "",
"evidence": [
{
"id": "P20610",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P20610"
}
]
}
]
},
{
"uniprot_ac": "P30815",
"gene_name": "cxdA",
"activity": [
{
"ec_number": "7.1.1.9",
"activity": "4 Fe(II)-[cytochrome c] + 8 H(+)(in) + O2 = 4 Fe(III)-[cytochrome c] + 4 H(+)(out) + 2 H2O.",
"evidence": [
{
"id": "P30815",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P30815"
}
]
},
{
"ec_number": "7.1.1.9",
"activity": "",
"evidence": [
{
"id": "P30815",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P30815"
}
]
}
]
},
{
"uniprot_ac": "Q9Y4W6",
"gene_name": "AFG3L2",
"activity": [
{
"ec_number": "3.4.24.-",
"activity": "",
"evidence": [
{
"id": "Q9Y4W6",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9Y4W6"
}
]
}
]
}
],
"biomarkers": [],
"synthesized_glycans": [],
"cluster_types": [
{
"name": "homologset.oma",
"label": "OMA Homologs"
},
{
"name": "homologset.mgi",
"label": "MGI Homologs"
}
],
"sequence_features": {
"n_linked_sites": [],
"o_linked_sites": [
455
],
"snv_sites": [],
"glycation_sites": [],
"phosphorylation_sites": [],
"sequon_annotation_sites": [
{
"start_pos": 135,
"end_pos": 137
},
{
"start_pos": 216,
"end_pos": 218
},
{
"start_pos": 360,
"end_pos": 362
},
{
"start_pos": 422,
"end_pos": 424
},
{
"start_pos": 99,
"end_pos": 101
}
]
},
"section_stats": [
{
"table_id": "glycosylation",
"table_stats": [
{
"field": "total",
"count": 1
},
{
"field": "total_sites",
"count": 1
},
{
"field": "n_linked_glycans",
"count": 0
},
{
"field": "n_linked_glycan_sites",
"count": 0
},
{
"field": "o_linked_glycans",
"count": 1
},
{
"field": "o_linked_glycan_sites",
"count": 1
}
],
"sort_fields": [
"glytoucan_ac",
"type",
"subtype",
"site_category",
"site_seq",
"relation",
"comment",
"start_pos",
"start_aa",
"end_pos",
"end_aa",
"residue",
"site_lbl"
]
},
{
"table_id": "glycosylation_reported",
"table_stats": [
{
"field": "total",
"count": 0
},
{
"field": "total_sites",
"count": 0
},
{
"field": "n_linked_glycans",
"count": 0
},
{
"field": "n_linked_glycan_sites",
"count": 0
},
{
"field": "o_linked_glycans",
"count": 0
},
{
"field": "o_linked_glycan_sites",
"count": 0
}
],
"sort_fields": []
},
{
"table_id": "glycosylation_reported_with_glycan",
"table_stats": [
{
"field": "total",
"count": 1
},
{
"field": "total_sites",
"count": 1
},
{
"field": "n_linked_glycans",
"count": 0
},
{
"field": "n_linked_glycan_sites",
"count": 0
},
{
"field": "o_linked_glycans",
"count": 1
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