{
"uniprot_canonical_ac": "P40939-1",
"uniprot_ac": "P40939",
"uniprot_id": "ECHA_HUMAN",
"mass": {
"chemical_mass": 83000.0,
"monoisotopic_mass": 83000.0
},
"refseq": {
"ac": "NP_000173",
"name": "trifunctional enzyme subunit alpha, mitochondrial precursor",
"summary": "This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. [provided by RefSeq, Jul 2008].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000173"
},
"gene_names": [
{
"name": "HADHA",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/P40939",
"id": "P40939"
},
{
"name": "ECHA; GBP; HADH; LCEH; LCHAD; MTPA; TP-ALPHA",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000173",
"id": "NP_000173"
},
{
"name": "HADHA",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000173",
"id": "NP_000173"
},
{
"name": "HADH",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P40939",
"id": "P40939"
}
],
"protein_names": [
{
"name": "Trifunctional enzyme subunit alpha, mitochondrial",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "P40939"
},
{
"name": "2.3.1.-",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P40939"
},
{
"name": "78 kDa gastrin-binding protein",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P40939"
},
{
"name": "Monolysocardiolipin acyltransferase",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P40939"
},
{
"name": "TP-alpha",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P40939"
},
{
"name": "gastrin-binding protein; long-chain 2-enoyl-CoA hydratase; hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit; long-chain-3-hydroxyacyl-CoA dehydrogenase; hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit; mitochondrial long-chain L-3-hydroxyacyl-Coenzyme A (CoA) dehydrogenase, alpha subunit; 3-ketoacyl-Coenzyme A (CoA) thiolase, alpha subunit; 3-oxoacyl-CoA thiolase; mitochondrial long-chain 2-enoyl-Coenzyme A (CoA) hydratase, alpha subunit; mitochondrial trifunctional protein, alpha subunit; mitochondrial trifunctional enzyme, alpha subunit; 78 kDa gastrin-binding protein; monolysocardiolipin acyltransferase",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000173",
"id": "NP_000173"
},
{
"name": "trifunctional enzyme subunit alpha, mitochondrial precursor",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000173",
"id": "NP_000173"
}
],
"function": [
{
"annotation": "Analysis of a family with mitochondrial trifunctional protein deficiency caused by HADHA gene mutations.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000173",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000173"
},
{
"database": "PubMed",
"id": "34878152",
"url": "https://glygen.org/publication/PubMed/34878152"
}
]
},
{
"annotation": "Human Peroxisomal 3-Ketoacyl-CoA Thiolase: Tissue Expression and Metabolic Regulation : Human Peroxisomal Thiolase. Review article",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000173",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000173"
},
{
"database": "PubMed",
"id": "33417214",
"url": "https://glygen.org/publication/PubMed/33417214"
}
]
},
{
"annotation": "Mitochondrial trifunctional enzyme catalyzes the last three of the four reactions of the mitochondrial beta-oxidation pathway (PubMed:8135828, PubMed:1550553, PubMed:29915090, PubMed:30850536). The mitochondrial beta-oxidation pathway is the major energy-producing process in tissues and is performed through four consecutive reactions breaking down fatty acids into acetyl-CoA (PubMed:29915090). Among the enzymes involved in this pathway, the trifunctional enzyme exhibits specificity for long-chain fatty acids (PubMed:30850536). Mitochondrial trifunctional enzyme is a heterotetrameric complex composed of two proteins, the trifunctional enzyme subunit alpha/HADHA described here carries the 2,3-enoyl-CoA hydratase and the 3-hydroxyacyl-CoA dehydrogenase activities while the trifunctional enzyme subunit beta/HADHB bears the 3-ketoacyl-CoA thiolase activity (PubMed:8135828, PubMed:29915090, PubMed:30850536). Independently of the subunit beta, the trifunctional enzyme subunit alpha/HADHA also has a monolysocardiolipin acyltransferase activity (PubMed:23152787). It acylates monolysocardiolipin into cardiolipin, a major mitochondrial membrane phospholipid which plays a key role in apoptosis and supports mitochondrial respiratory chain complexes in the generation of ATP (PubMed:23152787). Allows the acylation of monolysocardiolipin with different acyl-CoA substrates including oleoyl-CoA for which it displays the highest activity (PubMed:23152787).",
"evidence": [
{
"database": "UniProtKB",
"id": "P40939",
"url": "https://www.uniprot.org/uniprot/P40939#function"
},
{
"database": "PubMed",
"id": "29915090",
"url": "https://glygen.org/publication/PubMed/29915090"
},
{
"database": "PubMed",
"id": "30850536",
"url": "https://glygen.org/publication/PubMed/30850536"
},
{
"database": "PubMed",
"id": "23152787",
"url": "https://glygen.org/publication/PubMed/23152787"
},
{
"database": "PubMed",
"id": "1550553",
"url": "https://glygen.org/publication/PubMed/1550553"
},
{
"database": "PubMed",
"id": "8135828",
"url": "https://glygen.org/publication/PubMed/8135828"
}
]
},
{
"annotation": "Roles of hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha, a lipid metabolism enzyme, in Wilms tumor patients.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000173",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000173"
},
{
"database": "PubMed",
"id": "34850779",
"url": "https://glygen.org/publication/PubMed/34850779"
}
]
},
{
"annotation": "Targeting the mitochondrial trifunctional protein restrains tumor growth in oxidative lung carcinomas.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000173",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000173"
},
{
"database": "PubMed",
"id": "33393495",
"url": "https://glygen.org/publication/PubMed/33393495"
}
]
},
{
"annotation": "This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. [provided by RefSeq, Jul 2008].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000173",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000173"
}
]
},
{
"annotation": "[HADHA Inhibits the Migration and Invasion of HTR-8/SVneo Cells by Regulating PI3K/AKT Signaling Pathway].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000173",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000173"
},
{
"database": "PubMed",
"id": "36224682",
"url": "https://glygen.org/publication/PubMed/36224682"
}
]
}
],
"disease": [
{
"disease_id": "DOID:0111277",
"recommended_name": {
"id": "DOID:0111277",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111277",
"name": "mitochondrial trifunctional protein deficiency",
"description": "A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from servere neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mutation in either of the subunits of the mitochondrial trifunctional protein; HADHA or HADHB on 2p23.3."
},
"synonyms": [
{
"id": "DOID:0111277",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111277",
"name": "MTPD",
"description": ""
},
{
"id": "DOID:0111277",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111277",
"name": "TFP deficiency",
"description": ""
},
{
"id": "DOID:0111277",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111277",
"name": "TFPD",
"description": ""
},
{
"id": "MONDO:0012172",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012172",
"name": "mitochondrial trifunctional protein deficiency",
"description": "Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.."
},
{
"id": "MONDO:0012172",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012172",
"name": "TFP deficiency",
"description": ""
},
{
"id": "MONDO:0012172",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012172",
"name": "TFPD",
"description": ""
},
{
"id": "MONDO:0012172",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012172",
"name": "mitochondrial trifunctional protein deficiency",
"description": ""
},
{
"id": "MONDO:0012172",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012172",
"name": "MTPD",
"description": ""
},
{
"id": "MONDO:0012172",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012172",
"name": "mitochondrial trifunctional PROTEIN deficiency",
"description": ""
},
{
"id": "MONDO:0012172",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012172",
"name": "trifunctional Protein deficiency",
"description": ""
},
{
"id": "MONDO:0012172",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012172",
"name": "trifunctional Protein deficiency with myopathy and neuropathy",
"description": ""
},
{
"id": "MIM:609015",
"resource": "MIM",
"url": "https://www.omim.org/entry/609015",
"name": "Mitochondrial trifunctional protein deficiency 1",
"description": "Mitochondrial trifunctional protein deficiency 1"
}
],
"evidence": [
{
"id": "609015",
"database": "MIM",
"url": "https://www.omim.org/entry/609015"
}
]
},
{
"disease_id": "MONDO:0012173",
"recommended_name": {
"id": "MONDO:0012173",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012173",
"name": "long chain 3-hydroxyacyl-CoA dehydrogenase deficiency",
"description": "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy."
},
"synonyms": [
{
"id": "MONDO:0012173",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012173",
"name": "HELLP syndrome, maternal, of pregnancy",
"description": ""
},
{
"id": "MONDO:0012173",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012173",
"name": "LCHAD deficiency",
"description": ""
},
{
"id": "MONDO:0012173",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012173",
"name": "LCHADD",
"description": ""
},
{
"id": "MONDO:0012173",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012173",
"name": "fatty liver, acute, of pregnancy",
"description": ""
},
{
"id": "MONDO:0012173",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012173",
"name": "long chain 3-hydroxyacyl-CoA dehydrogenase deficiency",
"description": ""
},
{
"id": "MONDO:0012173",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012173",
"name": "long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency",
"description": ""
},
{
"id": "MONDO:0012173",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012173",
"name": "3-hydroxyacyl-CoA dehydrogenase long chain deficiency",
"description": ""
},
{
"id": "MONDO:0012173",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012173",
"name": "long-chain 3-OH acyl-CoA dehydrogenase deficiency",
"description": ""
},
{
"id": "MONDO:0012173",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012173",
"name": "long-chain 3-hydroxy acyl CoA dehydrogenase deficiency",
"description": ""
},
{
"id": "MONDO:0012173",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012173",
"name": "long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency",
"description": ""
},
{
"id": "MONDO:0012173",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012173",
"name": "trifunctional protein deficiency type 1",
"description": ""
},
{
"id": "MIM:609016",
"resource": "MIM",
"url": "https://www.omim.org/entry/609016",
"name": "Long-chain 3-hydroxyl-CoA dehydrogenase deficiency",
"description": "Long-chain 3-hydroxyl-CoA dehydrogenase deficiency"
}
],
"evidence": [
{
"id": "609016",
"database": "MIM",
"url": "https://www.omim.org/entry/609016"
}
]
}
],
"snv": [
{
"evidence": [
{
"id": "rs1670695099",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1670695099"
}
],
"glycoeffect": [
"o-glyco-site-loss"
],
"start_pos": 120,
"end_pos": 120,
"sequence_org": "S",
"sequence_mut": "*",
"comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->*).",
"chr_id": "2",
"chr_pos": "26234311",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "S120",
"keywords": [
"ebi",
"germline",
"disease"
],
"disease": [
{
"disease_id": "DOID:0111277",
"recommended_name": {
"id": "DOID:0111277",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111277",
"name": "mitochondrial trifunctional protein deficiency",
"description": "A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from servere neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mutation in either of the subunits of the mitochondrial trifunctional protein; HADHA or HADHB on 2p23.3."
},
"synonyms": [
{
"id": "DOID:0111277",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111277",
"name": "MTPD",
"description": ""
},
{
"id": "DOID:0111277",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111277",
"name": "TFP deficiency",
"description": ""
},
{
"id": "DOID:0111277",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111277",
"name": "TFPD",
"description": ""
},
{
"id": "MONDO:0012172",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012172",
"name": "mitochondrial trifunctional protein deficiency",
"description": "Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.."
},
{
"id": "MONDO:0012172",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012172",
"name": "TFP deficiency",
"description": ""
},
{
"id": "MONDO:0012172",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012172",
"name": "TFPD",
"description": ""
},
{
"id": "MONDO:0012172",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012172",
"name": "mitochondrial trifunctional protein deficiency",
"description": ""
},
{
"id": "MONDO:0012172",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012172",
"name": "MTPD",
"description": ""
},
{
"id": "MONDO:0012172",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012172",
"name": "mitochondrial trifunctional PROTEIN deficiency",
"description": ""
},
{
"id": "MONDO:0012172",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012172",
"name": "trifunctional Protein deficiency",
"description": ""
},
{
"id": "MONDO:0012172",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012172",
"name": "trifunctional Protein deficiency with myopathy and neuropathy",
"description": ""
},
{
"id": "MIM:609015",
"resource": "MIM",
"url": "https://www.omim.org/entry/609015",
"name": "Mitochondrial trifunctional protein deficiency 1",
"description": "Mitochondrial trifunctional protein deficiency 1"
}
]
}
]
},
{
"evidence": [
{
"id": "P40939",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P40939"
}
],
"glycoeffect": [
"n-glyco-sequon-gain",
"o-glyco-site-loss"
],
"start_pos": 255,
"end_pos": 255,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "K",
"sequence_mut": "N",
"comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KIS->NIS).",
"chr_id": "2",
"chr_pos": "26215087",
"ref_nt": "C",
"alt_nt": "G",
"minor_allelic_frequency": "",
"site_lbl": "K255",
"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",
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},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
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},
{
"id": "MONDO:0016419",
"resource": "MONDO",
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},
{
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"resource": "MONDO",
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},
{
"id": "MONDO:0016419",
"resource": "MONDO",
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},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
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},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial",
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},
{
"id": "MONDO:0016419",
"resource": "MONDO",
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},
{
"id": "MIM:114480",
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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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},
{
"evidence": [
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{
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{
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"url": "http://gnomad.broadinstitute.org/awesome?query=rs1169506019"
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],
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"end_pos": 520,
"sequence_org": "D",
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"chr_id": "2",
"chr_pos": "26195154",
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"site_lbl": "D520",
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"germline"
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},
{
"evidence": [
{
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{
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"url": "https://www.ncbi.nlm.nih.gov/snp/rs1451513233#frequency_tab"
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{
"id": "rs1451513233",
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],
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"o-glyco-site-loss"
],
"start_pos": 522,
"end_pos": 522,
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"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SAS->NAS).",
"chr_id": "2",
"chr_pos": "26195147",
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"site_lbl": "S522",
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},
{
"evidence": [
{
"id": "rs200602844",
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{
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],
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"o-glyco-site-loss"
],
"start_pos": 575,
"end_pos": 575,
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"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TTS->NTS).",
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"germline"
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}
],
"mutagenesis": [],
"expression_tissue": [
{
"tissue": {
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"id": "0000082",
"url": "http://purl.obolibrary.org/obo/UBERON_0000082"
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"score": "97.1",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000084754",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000084754"
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]
},
{
"tissue": {
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"namespace": "UBERON",
"id": "0000167",
"url": "http://purl.obolibrary.org/obo/UBERON_0000167"
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"score": "95.93",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000084754",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000084754"
}
]
},
{
"tissue": {
"name": "Stomach",
"namespace": "UBERON",
"id": "0000945",
"url": "http://purl.obolibrary.org/obo/UBERON_0000945"
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"score": "96.79",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000084754",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000084754"
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]
},
{
"tissue": {
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"namespace": "UBERON",
"id": "0000995",
"url": "http://purl.obolibrary.org/obo/UBERON_0000995"
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"score": "92.67",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000084754",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000084754"
}
]
},
{
"tissue": {
"name": "Esophagus",
"namespace": "UBERON",
"id": "0001043",
"url": "http://purl.obolibrary.org/obo/UBERON_0001043"
},
"score": "98.15",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000084754",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000084754"
}
]
},
{
"tissue": {
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"namespace": "UBERON",
"id": "0001052",
"url": "http://purl.obolibrary.org/obo/UBERON_0001052"
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"score": "98.52",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000084754",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000084754"
}
]
},
{
"tissue": {
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"namespace": "UBERON",
"id": "0001155",
"url": "http://purl.obolibrary.org/obo/UBERON_0001155"
},
"score": "97.68",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000084754",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000084754"
}
]
},
{
"tissue": {
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"namespace": "UBERON",
"id": "0001255",
"url": "http://purl.obolibrary.org/obo/UBERON_0001255"
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"score": "97.23",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000084754",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000084754"
}
]
},
{
"tissue": {
"name": "Thyroid gland",
"namespace": "UBERON",
"id": "0002046",
"url": "http://purl.obolibrary.org/obo/UBERON_0002046"
},
"score": "95.69",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000084754",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000084754"
}
]
},
{
"tissue": {
"name": "Lung",
"namespace": "UBERON",
"id": "0002048",
"url": "http://purl.obolibrary.org/obo/UBERON_0002048"
},
"score": "93.42",
"present": "HIGH",
"evidence": [
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"database": "Bgee",
"id": "ENSG00000084754",
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}
]
},
{
"tissue": {
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"id": "0002107",
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"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000084754",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000084754"
}
]
},
{
"tissue": {
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"id": "0002367",
"url": "http://purl.obolibrary.org/obo/UBERON_0002367"
},
"score": "96.01",
"present": "HIGH",
"evidence": [
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"database": "Bgee",
"id": "ENSG00000084754",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000084754"
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]
},
{
"tissue": {
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"id": "0005200",
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"evidence": [
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"database": "Bgee",
"id": "ENSG00000084754",
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]
}
],
"expression_disease": [
{
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"evidence": [
{
"database": "BioXpress",
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],
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{
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},
{
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},
{
"id": "DOID:10283",
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},
{
"id": "DOID:10283",
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},
{
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},
{
"id": "DOID:10283",
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},
{
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},
{
"id": "MONDO:0012597",
"resource": "MONDO",
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},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
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},
{
"id": "MONDO:0012597",
"resource": "MONDO",
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"name": "prostate cancer, hereditary, type 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "HPC9",
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},
{
"id": "MONDO:0012741",
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"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",
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},
{
"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",
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},
{
"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",
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},
{
"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": "P40939",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P40939"
}
],
"disease": [
{
"disease_id": "DOID:10534",
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
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},
"synonyms": [
{
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"name": "gastric cancer",
"description": ""
},
{
"id": "DOID:10534",
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"url": "http://disease-ontology.org/term/DOID:10534",
"name": "gastric neoplasm",
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},
{
"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",
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"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",
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},
{
"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": "Yes",
"trend": "down",
"name": "Urinary bladder cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11054",
"evidence": [
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{
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},
"synonyms": [
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},
{
"id": "DOID:11054",
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"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",
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"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",
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},
{
"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",
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},
{
"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": "P40939",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P40939"
}
],
"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": "Yes",
"trend": "down",
"name": "Lung cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1324",
"evidence": [
{
"database": "BioXpress",
"id": "P40939",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P40939"
}
],
"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": "P40939",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P40939"
}
],
"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": "No",
"trend": "up",
"name": "Thyroid cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1781",
"evidence": [
{
"database": "BioXpress",
"id": "P40939",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P40939"
}
],
"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": "down",
"name": "Kidney cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:263",
"evidence": [
{
"database": "BioXpress",
"id": "P40939",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P40939"
}
],
"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": "P40939",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P40939"
}
],
"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": "down",
"name": "Uterine cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:363",
"evidence": [
{
"database": "BioXpress",
"id": "P40939",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P40939"
}
],
"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": "P40939",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P40939"
}
],
"disease": [
{
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"recommended_name": {
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"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": [
{
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"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": "Yes",
"trend": "down",
"name": "Colorectal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:9256",
"evidence": [
{
"database": "BioXpress",
"id": "P40939",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P40939"
}
],
"disease": [
{
"disease_id": "DOID:9256",
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"resource": "Disease Ontology",
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},
"synonyms": [
{
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"resource": "MONDO",
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"name": "colorectal cancer",
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},
{
"id": "MONDO:0005575",
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"description": ""
},
{
"id": "MONDO:0005575",
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"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
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"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
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"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
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"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, advanced, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
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"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": ""
},
{
"id": "MONDO:0005575",
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"name": "colorectal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
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},
{
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"name": "colorectum cancer",
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},
{
"id": "MONDO:0005575",
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"name": "malignant colorectal neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
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"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal tumor",
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},
{
"id": "MONDO:0005575",
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"name": "malignant colorectal tumour",
"description": ""
},
{
"id": "MONDO:0005575",
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"name": "malignant colorectum neoplasm",
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},
{
"id": "MONDO:0005575",
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"name": "malignant large bowel neoplasm",
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},
{
"id": "MONDO:0005575",
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},
{
"id": "MONDO:0005575",
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"name": "malignant large bowel tumour",
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},
{
"id": "MONDO:0005575",
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"name": "malignant large intestine neoplasm",
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},
{
"id": "MONDO:0005575",
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},
{
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},
{
"id": "MONDO:0005575",
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},
{
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{
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{
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{
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"title": "Genes for the human mitochondrial trifunctional protein alpha- and beta-subunits are divergently transcribed from a common promoter region.",
"journal": "J. Biol. Chem.",
"date": "1999",
"authors": "Orii KE, Orii KO, Souri M, Orii T, Kondo N, Hashimoto T, Aoyama T",
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{
"title": "Human pancreatic islets express mRNA species encoding two distinct catalytically active isoforms of group VI phospholipase A2 (iPLA2) that arise from an exon-skipping mechanism of alternative splicing of the transcript from the iPLA2 gene on chromosome 22q13.1.",
"journal": "The Journal of biological chemistry",
"date": "1999",
"authors": "Ma Z, Wang X, Nowatzke W, Ramanadham S, Turk J",
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{
"title": "The human calcium-independent phospholipase A2 gene multiple enzymes with distinct properties from a single gene.",
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{
"title": "Characterization of 2-enoyl thioester reductase from mammals. An ortholog of YBR026p/MRF1'p of the yeast mitochondrial fatty acid synthesis type II.",
"journal": "The Journal of biological chemistry",
"date": "2003",
"authors": "Miinalainen IJ, Chen ZJ, Torkko JM, Pirila PL, Sormunen RT, Bergmann U, Qin YM, Hiltunen JK",
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},
{
"title": "On the mechanism of dehydrogenation of fatty acyl derivatives of coenzyme A. II. The electron-transferring flavoprotein.",
"journal": "The Journal of biological chemistry",
"date": "1956",
"authors": "CRANE FL, BEINERT H",
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}
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"P07896-1",
"P40939-1",
"Q08426-1",
"Q8BMS1-1",
"Q9DBM2-1",
"Q9V397-1"
],
"evidence": [
{
"id": "31163",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/31163"
}
]
},
{
"id": "31167",
"name": "",
"equation": "(3S)-hydroxytetradecanoyl-CoA + NAD(+) = 3-oxotetradecanoyl-CoA + H(+) + NADH",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q64428-1",
"P40939-1",
"Q8BMS1-1"
],
"evidence": [
{
"id": "31167",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/31167"
}
]
},
{
"id": "31179",
"name": "",
"equation": "(3S)-3-hydroxydodecanoyl-CoA + NAD(+) = 3-oxododecanoyl-CoA + H(+) + NADH",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q64428-1",
"P40939-1",
"Q8BMS1-1"
],
"evidence": [
{
"id": "31179",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/31179"
}
]
},
{
"id": "31187",
"name": "",
"equation": "(3S)-hydroxydecanoyl-CoA + NAD(+) = 3-oxodecanoyl-CoA + H(+) + NADH",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q64428-1",
"P07896-1",
"Q9WVK7-1",
"P40939-1",
"Q16836-1",
"Q08426-1",
"Q8BMS1-1",
"Q61425-1",
"Q9DBM2-1",
"Q9V397-1"
],
"evidence": [
{
"id": "31187",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/31187"
}
]
},
{
"id": "31195",
"name": "",
"equation": "(3S)-hydroxyoctanoyl-CoA + NAD(+) = 3-oxooctanoyl-CoA + H(+) + NADH",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q64428-1",
"O70351-1",
"P40939-1",
"Q99714-1",
"Q8BMS1-1",
"O08756-1"
],
"evidence": [
{
"id": "31195",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/31195"
}
]
},
{
"id": "31199",
"name": "",
"equation": "(3S)-hydroxyoctanoyl-CoA = (2E)-octenoyl-CoA + H2O",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q64428-1",
"P40939-1",
"Q8BMS1-1"
],
"evidence": [
{
"id": "31199",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/31199"
}
]
},
{
"id": "43672",
"name": "",
"equation": "(9Z,12Z)-octadecadienoyl-CoA + 1'-[1,2-di-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phospho]-3'-[1-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phospho]-glycerol = 1',3'-bis-[1,2-di-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phospho]-glycerol + CoA",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q64428-1",
"P40939-1",
"Q8BMS1-1"
],
"evidence": [
{
"id": "43672",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/43672"
}
]
},
{
"id": "43676",
"name": "",
"equation": "(9Z)-octadecenoyl-CoA + 1'-[1,2-di-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phospho]-3'-[1-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phospho]-glycerol = 1'-[1,2-di-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phospho]-3'-[1-(9Z,12Z-octadecadienoyl)-2-(9Z-octadecenoyl)-sn-glycero-3-phospho]-glycerol + CoA",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q64428-1",
"P40939-1",
"Q8BMS1-1"
],
"evidence": [
{
"id": "43676",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/43676"
}
]
},
{
"id": "43680",
"name": "",
"equation": "1'-[1,2-di-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phospho]-3'-[1-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phospho]-glycerol + hexadecanoyl-CoA = 1'-[1,2-di-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phospho]-3'-[1-(9Z,12Z-octadecadienoyl)-2-hexadecanoyl-sn-glycero-3-phospho]-glycerol + CoA",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q64428-1",
"P40939-1",
"Q8BMS1-1"
],
"evidence": [
{
"id": "43680",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/43680"
}
]
},
{
"id": "52656",
"name": "",
"equation": "a long-chain (3S)-3-hydroxy fatty acyl-CoA + NAD(+) = a long-chain 3-oxo-fatty acyl-CoA + H(+) + NADH",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q64428-1",
"P40939-1",
"Q8BMS1-1"
],
"evidence": [
{
"id": "52656",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/52656"
}
]
},
{
"id": "R-HSA-109339",
"name": "Linoleoyl-CoA is converted to cis,cis-3,6- dodecadienoyl-CoA by three cycles of beta-oxidation",
"equation": "",
"summary": "Three cycles of beta oxidation, each mediated by the activities of trifunctional protein and ACADL tetramer, convert linoleoyl-CoA to cis,cis-3,6-dodecadienoyl-CoA plus three molecules each of CoA-SH, FADH2, and NADH + H+.",
"cellular_location": "mitochondrial matrix",
"input_participant_list": [
"R-ALL-113596",
"R-ALL-77359"
],
"output_participant_list": [
"R-ALL-113559",
"R-ALL-77358"
],
"enzyme_list": [
"P28330-1",
"P40939-1"
],
"evidence": [
{
"id": "R-HSA-109339",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-109339"
}
]
},
{
"id": "R-HSA-109342",
"name": "Trans,cis-lauro-2,6-dienoyl-CoA is converted to cis,cis-3,6- 4-cis-decenoyl-CoA by one cycle of beta-oxidation",
"equation": "",
"summary": "One cycle of beta oxidation, each mediated by the activities of trifunctional protein and ACADL tetramer, converts trans,cis-lauro-2,6-dienoyl-CoA to 4-cis-decenoyl-CoA plus molecules of CoA-SH, FADH2, and NADH + H+.",
"cellular_location": "mitochondrial matrix",
"input_participant_list": [
"R-ALL-77360"
],
"output_participant_list": [],
"enzyme_list": [
"P28330-1",
"P40939-1"
],
"evidence": [
{
"id": "R-HSA-109342",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-109342"
}
]
},
{
"id": "R-HSA-1482775",
"name": "MLCL is acylated to CL by HADH (IM)",
"equation": "",
"summary": "At the inner mitochondrial membrane (IM), the trifunctional enzyme HADH (3-hydroxyacyl-CoA dehydrogenase), an octamer of four alpha (HADHA) and four beta (HADHB) subunits, acylates monolysocardiolipin (MLCL) to cardiolipin (CL) (Taylor & Hatch 2009).",
"cellular_location": "mitochondrial inner membrane, mitochondrial matrix",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P40939-1"
],
"evidence": [
{
"id": "R-HSA-1482775",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1482775"
}
]
},
{
"id": "R-HSA-77271",
"name": "3-Oxotetradecanoyl-CoA+CoA-SH<=>Lauroyl-CoA",
"equation": "",
"summary": "At the beginning of this reaction, 1 molecule of '3-Oxotetradecanoyl-CoA', and 1 molecule of 'CoA' are present. At the end of this reaction, 1 molecule of 'Lauroyl-CoA', and 1 molecule of 'Acetyl-CoA' are present.
This reaction takes place in the 'mitochondrial matrix' and is mediated by the 'transferase activity' of 'Trifunctional Protein'.
",
"cellular_location": "mitochondrial matrix",
"input_participant_list": [
"R-ALL-77269"
],
"output_participant_list": [],
"enzyme_list": [
"P40939-1"
],
"evidence": [
{
"id": "R-HSA-77271",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77271"
}
]
},
{
"id": "R-HSA-77277",
"name": "trans-Tetradec-2-enoyl-CoA+H2O<=>(S)-3-Hydroxytetradecanoyl-CoA",
"equation": "",
"summary": "At the beginning of this reaction, 1 molecule of 'trans-Tetradec-2-enoyl-CoA', and 1 molecule of 'H2O' are present. At the end of this reaction, 1 molecule of '(S)-3-Hydroxytetradecanoyl-CoA' is present.
This reaction takes place in the 'mitochondrial matrix' and is mediated by the 'enoyl-CoA hydratase activity' of 'Trifunctional Protein'.
",
"cellular_location": "mitochondrial matrix",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P40939-1"
],
"evidence": [
{
"id": "R-HSA-77277",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77277"
}
]
},
{
"id": "R-HSA-77283",
"name": "(S)-3-Hydroxytetradecanoyl-CoA+NAD<=>3-Oxotetradecanoyl-CoA+NADH+H",
"equation": "",
"summary": "At the beginning of this reaction, 1 molecule of 'NAD+', and 1 molecule of '(S)-3-Hydroxytetradecanoyl-CoA' are present. At the end of this reaction, 1 molecule of 'H+', 1 molecule of '3-Oxotetradecanoyl-CoA', and 1 molecule of 'NADH' are present.
This reaction takes place in the 'mitochondrial matrix' and is mediated by the '3-hydroxyacyl-CoA dehydrogenase activity' of 'Trifunctional Protein'.
",
"cellular_location": "mitochondrial matrix",
"input_participant_list": [
"R-ALL-77276"
],
"output_participant_list": [],
"enzyme_list": [
"P40939-1"
],
"evidence": [
{
"id": "R-HSA-77283",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77283"
}
]
},
{
"id": "R-HSA-77301",
"name": "trans-Hexadec-2-enoyl-CoA+H2O<=>(S)-3-Hydroxyhexadecanoyl-CoA",
"equation": "",
"summary": "At the beginning of this reaction, 1 molecule of 'H2O', and 1 molecule of 'trans-Hexadec-2-enoyl-CoA' are present. At the end of this reaction, 1 molecule of '(S)-3-Hydroxyhexadecanoyl-CoA' is present.
This reaction takes place in the 'mitochondrial matrix' and is mediated by the 'enoyl-CoA hydratase activity' of 'Trifunctional Protein'.
",
"cellular_location": "mitochondrial matrix",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P40939-1"
],
"evidence": [
{
"id": "R-HSA-77301",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77301"
}
]
},
{
"id": "R-HSA-77303",
"name": "(S)-3-Hydroxyhexadecanoyl-CoA+NAD<=>3-Oxopalmitoyl-CoA+NADH+H",
"equation": "",
"summary": "At the beginning of this reaction, 1 molecule of 'NAD+', and 1 molecule of '(S)-3-Hydroxyhexadecanoyl-CoA' are present. At the end of this reaction, 1 molecule of '3-Oxopalmitoyl-CoA', 1 molecule of 'H+', and 1 molecule of 'NADH' are present.
This reaction takes place in the 'mitochondrial matrix' and is mediated by the '3-hydroxyacyl-CoA dehydrogenase activity' of 'Trifunctional Protein'.
",
"cellular_location": "mitochondrial matrix",
"input_participant_list": [
"R-ALL-77300"
],
"output_participant_list": [],
"enzyme_list": [
"P40939-1"
],
"evidence": [
{
"id": "R-HSA-77303",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77303"
}
]
},
{
"id": "R-HSA-77304",
"name": "3-Oxopalmitoyl-CoA+CoA-SH<=>myristoyl-CoA",
"equation": "",
"summary": "At the beginning of this reaction, 1 molecule of '3-Oxopalmitoyl-CoA', and 1 molecule of 'CoA' are present. At the end of this reaction, 1 molecule of 'Acetyl-CoA', and 1 molecule of 'myristoyl-CoA' are present.
This reaction takes place in the 'mitochondrial matrix' and is mediated by the 'transferase activity' of 'Trifunctional Protein'.
",
"cellular_location": "mitochondrial matrix",
"input_participant_list": [
"R-ALL-77302"
],
"output_participant_list": [],
"enzyme_list": [
"P40939-1"
],
"evidence": [
{
"id": "R-HSA-77304",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77304"
}
]
},
{
"id": "R-HSA-77309",
"name": "3-Oxododecanoyl-CoA+CoA-SH<=>Decanoyl-CoA",
"equation": "",
"summary": "At the beginning of this reaction, 1 molecule of '3-Oxododecanoyl-CoA', and 1 molecule of 'CoA' are present. At the end of this reaction, 1 molecule of 'Decanoyl-CoA', and 1 molecule of 'Acetyl-CoA' are present.
This reaction takes place in the 'mitochondrial matrix' and is mediated by the 'transferase activity' of 'Trifunctional Protein'.
",
"cellular_location": "mitochondrial matrix",
"input_participant_list": [
"R-ALL-77253"
],
"output_participant_list": [],
"enzyme_list": [
"P40939-1"
],
"evidence": [
{
"id": "R-HSA-77309",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77309"
}
]
},
{
"id": "R-HSA-77321",
"name": "3-Oxohexanoyl-CoA+CoA-SH<=>Butanoyl-CoA",
"equation": "",
"summary": "At the beginning of this reaction, 1 molecule of '3-Oxohexanoyl-CoA', and 1 molecule of 'CoA' are present. At the end of this reaction, 1 molecule of 'Acetyl-CoA', and 1 molecule of 'Butanoyl-CoA' are present.
This reaction takes place in the 'mitochondrial matrix' and is mediated by the 'transferase activity' of 'Trifunctional Protein'.
",
"cellular_location": "mitochondrial matrix",
"input_participant_list": [
"R-ALL-77320"
],
"output_participant_list": [],
"enzyme_list": [
"P40939-1"
],
"evidence": [
{
"id": "R-HSA-77321",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77321"
}
]
},
{
"id": "R-HSA-77329",
"name": "3-Oxooctanoyl-CoA+CoA-SH<=>Hexanoyl-CoA",
"equation": "",
"summary": "At the beginning of this reaction, 1 molecule of '3-Oxooctanoyl-CoA', and 1 molecule of 'CoA' are present. At the end of this reaction, 1 molecule of 'Hexanoyl-CoA', and 1 molecule of 'Acetyl-CoA' are present.
This reaction takes place in the 'mitochondrial matrix' and is mediated by the 'transferase activity' of 'Trifunctional Protein'.
",
"cellular_location": "mitochondrial matrix",
"input_participant_list": [
"R-ALL-77328"
],
"output_participant_list": [],
"enzyme_list": [
"P40939-1"
],
"evidence": [
{
"id": "R-HSA-77329",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77329"
}
]
},
{
"id": "R-HSA-77340",
"name": "3-Oxodecanoyl-CoA+CoA-SH<=>Octanoyl-CoA",
"equation": "",
"summary": "At the beginning of this reaction, 1 molecule of '3-Oxodecanoyl-CoA', and 1 molecule of 'CoA' are present. At the end of this reaction, 1 molecule of 'Acetyl-CoA', and 1 molecule of 'Octanoyl-CoA' are present.
This reaction takes place in the 'mitochondrial matrix' and is mediated by the 'transferase activity' of 'Trifunctional Protein'.
",
"cellular_location": "mitochondrial matrix",
"input_participant_list": [
"R-ALL-77339"
],
"output_participant_list": [],
"enzyme_list": [
"P40939-1"
],
"evidence": [
{
"id": "R-HSA-77340",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77340"
}
]
}
],
"reaction_participants": [
{
"participant_id": "R-ALL-113559",
"participant_name": "Ac-CoA [mitochondrial matrix]",
"crossref": [
{
"id": "C00024",
"database": "COMPOUND",
"url": ""
},
{
"id": "57288",
"database": "ChEBI",
"url": ""
},
{
"id": "000008551095",
"database": "ZINC",
"url": ""
},
{
"id": "C00024",
"database": "COMPOUND",
"url": ""
},
{
"id": "57288",
"database": "ChEBI",
"url": ""
},
{
"id": "000008551095",
"database": "ZINC",
"url": ""
},
{
"id": "C00024",
"database": "COMPOUND",
"url": ""
},
{
"id": "57288",
"database": "ChEBI",
"url": ""
},
{
"id": "000008551095",
"database": "ZINC",
"url": ""
},
{
"id": "57288",
"database": "ChEBI",
"url": ""
},
{
"id": "000008551095",
"database": "ZINC",
"url": ""
},
{
"id": "C00024",
"database": "COMPOUND",
"url": ""
},
{
"id": "C00024",
"database": "COMPOUND",
"url": ""
},
{
"id": "57288",
"database": "ChEBI",
"url": ""
},
{
"id": "000008551095",
"database": "ZINC",
"url": ""
},
{
"id": "57288",
"database": "ChEBI",
"url": ""
},
{
"id": "C00024",
"database": "COMPOUND",
"url": ""
},
{
"id": "000008551095",
"database": "ZINC",
"url": ""
}
]
},
{
"participant_id": "R-ALL-113596",
"participant_name": "FAD [mitochondrial matrix]",
"crossref": [
{
"id": "C00016",
"database": "COMPOUND",
"url": ""
},
{
"id": "000008215434",
"database": "ZINC",
"url": ""
},
{
"id": "000195756838",
"database": "ZINC",
"url": ""
},
{
"id": "57692",
"database": "ChEBI",
"url": ""
},
{
"id": "57692",
"database": "ChEBI",
"url": ""
},
{
"id": "000195756838",
"database": "ZINC",
"url": ""
},
{
"id": "C00016",
"database": "COMPOUND",
"url": ""
},
{
"id": "000008215434",
"database": "ZINC",
"url": ""
},
{
"id": "C00016",
"database": "COMPOUND",
"url": ""
},
{
"id": "000008215434",
"database": "ZINC",
"url": ""
},
{
"id": "000195756838",
"database": "ZINC",
"url": ""
},
{
"id": "57692",
"database": "ChEBI",
"url": ""
},
{
"id": "C00016",
"database": "COMPOUND",
"url": ""
},
{
"id": "57692",
"database": "ChEBI",
"url": ""
},
{
"id": "000008215434",
"database": "ZINC",
"url": ""
},
{
"id": "000195756838",
"database": "ZINC",
"url": ""
},
{
"id": "000008215434",
"database": "ZINC",
"url": ""
},
{
"id": "000195756838",
"database": "ZINC",
"url": ""
},
{
"id": "C00016",
"database": "COMPOUND",
"url": ""
},
{
"id": "57692",
"database": "ChEBI",
"url": ""
},
{
"id": "C00016",
"database": "COMPOUND",
"url": ""
},
{
"id": "000008215434",
"database": "ZINC",
"url": ""
},
{
"id": "57692",
"database": "ChEBI",
"url": ""
},
{
"id": "000195756838",
"database": "ZINC",
"url": ""
}
]
},
{
"participant_id": "R-ALL-77253",
"participant_name": "3-Oxododecanoyl-CoA [mitochondrial matrix]",
"crossref": [
{
"id": "C05263",
"database": "COMPOUND",
"url": ""
},
{
"id": "000169622497",
"database": "ZINC",
"url": ""
},
{
"id": "8144444",
"database": "PubChem Substance",
"url": ""
},
{
"id": "HMDB0003937",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "27868",
"database": "ChEBI",
"url": ""
},
{
"id": "C05263",
"database": "COMPOUND",
"url": ""
},
{
"id": "27868",
"database": "ChEBI",
"url": ""
},
{
"id": "000169622497",
"database": "ZINC",
"url": ""
},
{
"id": "HMDB0003937",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "8144444",
"database": "PubChem Substance",
"url": ""
},
{
"id": "C05263",
"database": "COMPOUND",
"url": ""
},
{
"id": "27868",
"database": "ChEBI",
"url": ""
},
{
"id": "000169622497",
"database": "ZINC",
"url": ""
},
{
"id": "HMDB0003937",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "8144444",
"database": "PubChem Substance",
"url": ""
},
{
"id": "C05263",
"database": "COMPOUND",
"url": ""
},
{
"id": "27868",
"database": "ChEBI",
"url": ""
},
{
"id": "000169622497",
"database": "ZINC",
"url": ""
},
{
"id": "HMDB0003937",
"database": "HMDB Metabolite",
"url": ""
},
{
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