{
"uniprot_canonical_ac": "P11310-1",
"uniprot_ac": "P11310",
"uniprot_id": "ACADM_HUMAN",
"mass": {
"chemical_mass": 46588.0,
"monoisotopic_mass": 46588.0
},
"refseq": {
"ac": "NP_000007",
"name": "medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform a precursor",
"summary": "This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000007"
},
"gene_names": [
{
"name": "ACADM",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/P11310",
"id": "P11310"
},
{
"name": "ACAD1; MCAD; MCADH",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000007",
"id": "NP_000007"
},
{
"name": "ACADM",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000007",
"id": "NP_000007"
},
{
"name": "hCG_22915",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P11310",
"id": "P11310"
}
],
"protein_names": [
{
"name": "Medium-chain specific acyl-CoA dehydrogenase, mitochondrial",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "P11310"
},
{
"name": "1.3.8.7",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P11310"
},
{
"name": "MCADH",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P11310"
},
{
"name": "MCAD",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P11310"
},
{
"name": "Medium chain acyl-CoA dehydrogenase",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P11310"
},
{
"name": "acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain; medium-chain specific acyl-CoA dehydrogenase, mitochondrial; testicular tissue protein Li 7; medium-chain acyl-CoA dehydrogenase; acyl-CoA dehydrogenase, C-4 to C-12 straight chain",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000007",
"id": "NP_000007"
},
{
"name": "medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform a precursor",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000007",
"id": "NP_000007"
}
],
"function": [
{
"annotation": "Medium-chain specific acyl-CoA dehydrogenase is one of the acyl-CoA dehydrogenases that catalyze the first step of mitochondrial fatty acid beta-oxidation, an aerobic process breaking down fatty acids into acetyl-CoA and allowing the production of energy from fats (PubMed:1970566, PubMed:8823175, PubMed:21237683, PubMed:2251268). The first step of fatty acid beta-oxidation consists in the removal of one hydrogen from C-2 and C-3 of the straight-chain fatty acyl-CoA thioester, resulting in the formation of trans-2-enoyl-CoA (PubMed:2251268). Electron transfer flavoprotein (ETF) is the electron acceptor that transfers electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase) (PubMed:25416781, PubMed:15159392). Among the different mitochondrial acyl-CoA dehydrogenases, medium-chain specific acyl-CoA dehydrogenase acts specifically on acyl-CoAs with saturated 6 to 12 carbons long primary chains (PubMed:1970566, PubMed:8823175, PubMed:21237683, PubMed:2251268).",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310#function"
},
{
"database": "PubMed",
"id": "2251268",
"url": "https://glygen.org/publication/PubMed/2251268"
},
{
"database": "PubMed",
"id": "15159392",
"url": "https://glygen.org/publication/PubMed/15159392"
},
{
"database": "PubMed",
"id": "8823175",
"url": "https://glygen.org/publication/PubMed/8823175"
},
{
"database": "PubMed",
"id": "1970566",
"url": "https://glygen.org/publication/PubMed/1970566"
},
{
"database": "PubMed",
"id": "25416781",
"url": "https://glygen.org/publication/PubMed/25416781"
},
{
"database": "PubMed",
"id": "21237683",
"url": "https://glygen.org/publication/PubMed/21237683"
}
]
},
{
"annotation": "Role of PPAR-related genes in chronic heart failure: evidence from large populations. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000007",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000007"
},
{
"database": "PubMed",
"id": "37950149",
"url": "https://glygen.org/publication/PubMed/37950149"
}
]
},
{
"annotation": "This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000007",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000007"
}
]
}
],
"disease": [
{
"disease_id": "DOID:0080153",
"recommended_name": {
"id": "DOID:0080153",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0080153",
"name": "medium chain acyl-CoA dehydrogenase deficiency",
"description": "A lipid metabolism disorder that is characterized by a deficiency of the enzyme medium chain acyl-CoA dehydrogenase that results in the inability to convert medium chain fatty acids to energy, particularly during fasting."
},
"synonyms": [
{
"id": "MONDO:0008721",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008721",
"name": "medium chain acyl-CoA dehydrogenase deficiency",
"description": "Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention."
},
{
"id": "MONDO:0008721",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008721",
"name": "ACADM deficiency",
"description": ""
},
{
"id": "MONDO:0008721",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008721",
"name": "Acyl-CoA dehydrogenase, medium chain, deficiency of",
"description": ""
},
{
"id": "MONDO:0008721",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008721",
"name": "Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency",
"description": ""
},
{
"id": "MONDO:0008721",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008721",
"name": "MCAD",
"description": ""
},
{
"id": "MONDO:0008721",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008721",
"name": "MCAD deficiency",
"description": ""
},
{
"id": "MONDO:0008721",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008721",
"name": "MCADD",
"description": ""
},
{
"id": "MONDO:0008721",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008721",
"name": "acyl-CoA dehydrogenase, medium-chain deficiency",
"description": ""
},
{
"id": "MONDO:0008721",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008721",
"name": "medium chain acyl-CoA dehydrogenase deficiency",
"description": ""
},
{
"id": "MONDO:0008721",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008721",
"name": "medium chain acyl-coenzyme A dehydrogenase deficiency",
"description": ""
},
{
"id": "MONDO:0008721",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008721",
"name": "medium-chain acyl-CoA dehydrogenase deficiency",
"description": ""
},
{
"id": "MONDO:0008721",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008721",
"name": "medium-chain acyl-Coenzyme A dehydrogenase deficiency",
"description": ""
},
{
"id": "MONDO:0008721",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008721",
"name": "ACADMD",
"description": ""
},
{
"id": "MONDO:0008721",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008721",
"name": "Carnitine deficiency secondary to medium-chain acyl-Coa dehydrogenase deficiency",
"description": ""
},
{
"id": "MONDO:0008721",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008721",
"name": "Mcadh deficiency",
"description": ""
},
{
"id": "MONDO:0008721",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008721",
"name": "acyl-CoA dehydrogenase medium chain deficiency of",
"description": ""
},
{
"id": "MONDO:0008721",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008721",
"name": "acyl-CoA dehydrogenase, medium-chain, deficiency OF",
"description": ""
},
{
"id": "MONDO:0008721",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008721",
"name": "medium chain acyl CoA dehydrogenase deficiency",
"description": ""
},
{
"id": "MIM:201450",
"resource": "MIM",
"url": "https://www.omim.org/entry/201450",
"name": "Acyl-CoA dehydrogenase medium-chain deficiency",
"description": "Acyl-CoA dehydrogenase medium-chain deficiency"
}
],
"evidence": [
{
"id": "201450",
"database": "MIM",
"url": "https://www.omim.org/entry/201450"
}
]
}
],
"snv": [
{
"evidence": [
{
"id": "rs1057518408",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1057518408"
},
{
"id": "rs1057518408",
"database": "ENSEMBL",
"url": "https://www.ensembl.org/id/rs1057518408"
}
],
"glycoeffect": [
"o-glyco-site-loss"
],
"start_pos": 280,
"end_pos": 280,
"sequence_org": "T",
"sequence_mut": "A",
"comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).",
"chr_id": "1",
"chr_pos": "75749449",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "T280",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs886042055",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs886042055"
},
{
"id": "rs886042055",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs886042055#frequency_tab"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 96,
"end_pos": 96,
"sequence_org": "G",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NCG->NCS).",
"chr_id": "1",
"chr_pos": "75732922",
"ref_nt": "A",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "G96",
"keywords": [
"ebi",
"germline"
]
}
],
"mutagenesis": [
{
"start_pos": 100,
"end_pos": 100,
"sequence_org": "L",
"sequence_mut": "Y",
"comment": "Strongly reduced rate of electron transfer to ETF.",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
},
{
"database": "PubMed",
"id": "15159392",
"url": "https://glygen.org/publication/PubMed/15159392"
}
]
},
{
"start_pos": 108,
"end_pos": 108,
"sequence_org": "I",
"sequence_mut": "M",
"comment": "Strongly reduced rate of electron transfer to ETF.",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
},
{
"database": "PubMed",
"id": "15159392",
"url": "https://glygen.org/publication/PubMed/15159392"
}
]
},
{
"start_pos": 191,
"end_pos": 191,
"sequence_org": "W",
"sequence_mut": "A",
"comment": "Loss of electron transfer to ETF.",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
},
{
"database": "PubMed",
"id": "15975918",
"url": "https://glygen.org/publication/PubMed/15975918"
}
]
},
{
"start_pos": 191,
"end_pos": 191,
"sequence_org": "W",
"sequence_mut": "F",
"comment": "Reduces rate of electron transfer to ETF about six-fold.",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
},
{
"database": "PubMed",
"id": "15975918",
"url": "https://glygen.org/publication/PubMed/15975918"
}
]
},
{
"start_pos": 237,
"end_pos": 237,
"sequence_org": "E",
"sequence_mut": "A",
"comment": "Strongly reduced rate of electron transfer to ETF.",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
},
{
"database": "PubMed",
"id": "15159392",
"url": "https://glygen.org/publication/PubMed/15159392"
},
{
"database": "PubMed",
"id": "15975918",
"url": "https://glygen.org/publication/PubMed/15975918"
}
]
},
{
"start_pos": 280,
"end_pos": 280,
"sequence_org": "T",
"sequence_mut": "E",
"comment": "Narrower substrate specificity. Changed substrate specificity towards longer acyl chains; when associated with G-401. Loss of acyl-CoA dehydrogenase activity; when associated with T-410.",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
},
{
"database": "PubMed",
"id": "8823175",
"url": "https://glygen.org/publication/PubMed/8823175"
}
]
},
{
"start_pos": 384,
"end_pos": 384,
"sequence_org": "E",
"sequence_mut": "A",
"comment": "Reduces rate of electron transfer to ETF three-fold.",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
},
{
"database": "PubMed",
"id": "15159392",
"url": "https://glygen.org/publication/PubMed/15159392"
},
{
"database": "PubMed",
"id": "15975918",
"url": "https://glygen.org/publication/PubMed/15975918"
}
]
},
{
"start_pos": 384,
"end_pos": 384,
"sequence_org": "E",
"sequence_mut": "Q",
"comment": "Reduces rate of electron transfer to ETF two-fold.",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
},
{
"database": "PubMed",
"id": "15159392",
"url": "https://glygen.org/publication/PubMed/15159392"
},
{
"database": "PubMed",
"id": "15975918",
"url": "https://glygen.org/publication/PubMed/15975918"
}
]
},
{
"start_pos": 401,
"end_pos": 401,
"sequence_org": "E",
"sequence_mut": "G",
"comment": "Changed substrate specificity towards longer acyl chains; when associated with E-280.",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
},
{
"database": "PubMed",
"id": "8823175",
"url": "https://glygen.org/publication/PubMed/8823175"
}
]
},
{
"start_pos": 401,
"end_pos": 401,
"sequence_org": "E",
"sequence_mut": "Q",
"comment": "Loss of acyl-CoA dehydrogenase activity.",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
},
{
"database": "PubMed",
"id": "1970566",
"url": "https://glygen.org/publication/PubMed/1970566"
}
]
},
{
"start_pos": 401,
"end_pos": 401,
"sequence_org": "E",
"sequence_mut": "T",
"comment": "Loss of acyl-CoA dehydrogenase activity; when associated with E-280.",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
},
{
"database": "PubMed",
"id": "8823175",
"url": "https://glygen.org/publication/PubMed/8823175"
}
]
},
{
"start_pos": 86,
"end_pos": 86,
"sequence_org": "L",
"sequence_mut": "M",
"comment": "Strongly reduced rate of electron transfer to ETF.",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
},
{
"database": "PubMed",
"id": "15159392",
"url": "https://glygen.org/publication/PubMed/15159392"
}
]
},
{
"start_pos": 98,
"end_pos": 98,
"sequence_org": "L",
"sequence_mut": "W",
"comment": "Strongly reduced rate of electron transfer to ETF.",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
},
{
"database": "PubMed",
"id": "15159392",
"url": "https://glygen.org/publication/PubMed/15159392"
}
]
}
],
"expression_tissue": [
{
"tissue": {
"name": "Adult mammalian kidney",
"namespace": "UBERON",
"id": "0000082",
"url": "http://purl.obolibrary.org/obo/UBERON_0000082"
},
"score": "96.86",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000117054",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000117054"
}
]
},
{
"tissue": {
"name": "Oral cavity",
"namespace": "UBERON",
"id": "0000167",
"url": "http://purl.obolibrary.org/obo/UBERON_0000167"
},
"score": "93.63",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000117054",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000117054"
}
]
},
{
"tissue": {
"name": "Stomach",
"namespace": "UBERON",
"id": "0000945",
"url": "http://purl.obolibrary.org/obo/UBERON_0000945"
},
"score": "87.83",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000117054",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000117054"
}
]
},
{
"tissue": {
"name": "Uterus",
"namespace": "UBERON",
"id": "0000995",
"url": "http://purl.obolibrary.org/obo/UBERON_0000995"
},
"score": "70.7",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000117054",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000117054"
}
]
},
{
"tissue": {
"name": "Esophagus",
"namespace": "UBERON",
"id": "0001043",
"url": "http://purl.obolibrary.org/obo/UBERON_0001043"
},
"score": "95.25",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000117054",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000117054"
}
]
},
{
"tissue": {
"name": "Rectum",
"namespace": "UBERON",
"id": "0001052",
"url": "http://purl.obolibrary.org/obo/UBERON_0001052"
},
"score": "97.3",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000117054",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000117054"
}
]
},
{
"tissue": {
"name": "Colon",
"namespace": "UBERON",
"id": "0001155",
"url": "http://purl.obolibrary.org/obo/UBERON_0001155"
},
"score": "81.64",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000117054",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000117054"
}
]
},
{
"tissue": {
"name": "Urinary bladder",
"namespace": "UBERON",
"id": "0001255",
"url": "http://purl.obolibrary.org/obo/UBERON_0001255"
},
"score": "93.84",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000117054",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000117054"
}
]
},
{
"tissue": {
"name": "Thyroid gland",
"namespace": "UBERON",
"id": "0002046",
"url": "http://purl.obolibrary.org/obo/UBERON_0002046"
},
"score": "92.23",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000117054",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000117054"
}
]
},
{
"tissue": {
"name": "Lung",
"namespace": "UBERON",
"id": "0002048",
"url": "http://purl.obolibrary.org/obo/UBERON_0002048"
},
"score": "83.71",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000117054",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000117054"
}
]
},
{
"tissue": {
"name": "Liver",
"namespace": "UBERON",
"id": "0002107",
"url": "http://purl.obolibrary.org/obo/UBERON_0002107"
},
"score": "98.07",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000117054",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000117054"
}
]
},
{
"tissue": {
"name": "Prostate gland",
"namespace": "UBERON",
"id": "0002367",
"url": "http://purl.obolibrary.org/obo/UBERON_0002367"
},
"score": "89.09",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000117054",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000117054"
}
]
},
{
"tissue": {
"name": "Thoracic mammary gland",
"namespace": "UBERON",
"id": "0005200",
"url": "http://purl.obolibrary.org/obo/UBERON_0005200"
},
"score": "93.2",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000117054",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000117054"
}
]
}
],
"expression_disease": [
{
"significant": "Yes",
"trend": "down",
"name": "Prostate cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10283",
"evidence": [
{
"database": "BioXpress",
"id": "P11310",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11310"
}
],
"disease": [
{
"disease_id": "DOID:10283",
"recommended_name": {
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate cancer",
"description": "A male reproductive organ cancer that is located_in the prostate."
},
"synonyms": [
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "NGP - new growth of prostate",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "malignant tumor of the prostate",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate neoplasm",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic cancer",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic neoplasm",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "tumor of the prostate",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, type 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "HPC9",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene."
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "EHBP1 familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "familial prostate cancer caused by mutation in EHBP1",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, type 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "HPC12",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, type 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "HPC5",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, type 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, susceptibility to, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "HPC3",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, type 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, susceptibility to, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "HPC4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, on chromosome 7",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene."
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "MSMB familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "familial prostate cancer caused by mutation in MSMB",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, type 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "HPC13",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, type 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "HPC8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "predisposing for prostate cancer",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, type 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "HPC6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "HPC10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate carcinoma",
"description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma."
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate carcinoma",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, somatic",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, hereditary",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "HPC7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer aggressiveness",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene."
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "RNASEL familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "familial prostate cancer caused by mutation in RNASEL",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, type 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "HPC1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "Prca1",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "HPC11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "HPC14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "HPC15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "HPCX1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer susceptibility, X-linked",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "HPCX2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MIM:611868",
"resource": "MIM",
"url": "https://www.omim.org/entry/611868",
"name": "Prostate cancer, hereditary, 12",
"description": "Prostate cancer, hereditary, 12"
},
{
"id": "MIM:611928",
"resource": "MIM",
"url": "https://www.omim.org/entry/611928",
"name": "Prostate cancer, hereditary, 13",
"description": "Prostate cancer, hereditary, 13"
},
{
"id": "MIM:176807",
"resource": "MIM",
"url": "https://www.omim.org/entry/176807",
"name": "Prostate cancer",
"description": "Prostate cancer"
},
{
"id": "MIM:601518",
"resource": "MIM",
"url": "https://www.omim.org/entry/601518",
"name": "Prostate cancer, hereditary, 1",
"description": "Prostate cancer, hereditary, 1"
},
{
"id": "MIM:611955",
"resource": "MIM",
"url": "https://www.omim.org/entry/611955",
"name": "Prostate cancer, hereditary, 11",
"description": "Prostate cancer, hereditary, 11"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Stomach cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10534",
"evidence": [
{
"database": "BioXpress",
"id": "P11310",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11310"
}
],
"disease": [
{
"disease_id": "DOID:10534",
"recommended_name": {
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "stomach cancer",
"description": "A gastrointestinal system cancer that is located_in the stomach."
},
"synonyms": [
{
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "gastric cancer",
"description": ""
},
{
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": "A primary or metastatic malignant neoplasm involving the stomach."
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca lesser curvature - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "cancer of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer risk after h. pylori infection",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumor",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumour",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant stomach neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of greater curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of greater curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "stomach cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca body - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "ca greater curvature of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, intestinal",
"description": ""
},
{
"id": "MIM:613659",
"resource": "MIM",
"url": "https://www.omim.org/entry/613659",
"name": "Gastric cancer",
"description": "Gastric cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Urinary bladder cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11054",
"evidence": [
{
"database": "BioXpress",
"id": "P11310",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11310"
}
],
"disease": [
{
"disease_id": "DOID:11054",
"recommended_name": {
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
"name": "urinary bladder cancer",
"description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder."
},
"synonyms": [
{
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
"name": "bladder cancer",
"description": ""
},
{
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": "A primary or metastatic malignant neoplasm involving the bladder."
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "bladder cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "cancer of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumour",
"description": ""
},
{
"id": "MIM:109800",
"resource": "MIM",
"url": "https://www.omim.org/entry/109800",
"name": "Bladder cancer",
"description": "Bladder cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Head and neck cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11934",
"evidence": [
{
"database": "BioXpress",
"id": "P11310",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11310"
}
],
"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": "P11310",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11310"
}
],
"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": "P11310",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11310"
}
],
"disease": [
{
"disease_id": "DOID:1612",
"recommended_name": {
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast cancer",
"description": "A thoracic cancer that originates in the mammary gland."
},
"synonyms": [
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant neoplasm of breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant tumor of the breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary cancer",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "primary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, lobular, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of the breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial Male",
"description": ""
},
{
"id": "MIM:114480",
"resource": "MIM",
"url": "https://www.omim.org/entry/114480",
"name": "Breast cancer",
"description": "Breast cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Thyroid cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1781",
"evidence": [
{
"database": "BioXpress",
"id": "P11310",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11310"
}
],
"disease": [
{
"disease_id": "DOID:1781",
"recommended_name": {
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid cancer",
"description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage."
},
"synonyms": [
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid gland cancer",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "Thyroid gland neoplasm",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "malignant neoplasm of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "malignant tumour of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "neoplasm of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid neoplasm",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Kidney cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:263",
"evidence": [
{
"database": "BioXpress",
"id": "P11310",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11310"
}
],
"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": "P11310",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11310"
}
],
"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": "Yes",
"trend": "down",
"name": "Uterine cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:363",
"evidence": [
{
"database": "BioXpress",
"id": "P11310",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11310"
}
],
"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": "P11310",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11310"
}
],
"disease": [
{
"disease_id": "DOID:5041",
"recommended_name": {
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophageal cancer",
"description": "A gastrointestinal system cancer that is located_in the esophagus."
},
"synonyms": [
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophagus cancer",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Distal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Proximal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of abdominal esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of the middle Third of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": "A primary or metastatic malignant neoplasm involving the esophagus."
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "oesophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca lower third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of distal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of lower third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of proximal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of upper third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of abdominal esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of distal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of proximal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of the middle third of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of abdominal oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of distal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of proximal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of the middle third of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Aerodigestive tract cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Escc, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "gastric cardia adenocarcinoma, susceptibility to",
"description": ""
},
{
"id": "MIM:133239",
"resource": "MIM",
"url": "https://www.omim.org/entry/133239",
"name": "Esophageal cancer",
"description": "Esophageal cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Colorectal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:9256",
"evidence": [
{
"database": "BioXpress",
"id": "P11310",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11310"
}
],
"disease": [
{
"disease_id": "DOID:9256",
"recommended_name": {
"id": "DOID:9256",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9256",
"name": "colorectal cancer",
"description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
},
"synonyms": [
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
"description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of colorectum",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, advanced, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer with chromosomal instability, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectum cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal tumor",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal tumour",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectum neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large bowel neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large bowel tumor",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large bowel tumour",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large intestine neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large intestine tumor",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large intestine tumour",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of colorectum",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of the large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of the large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumour of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumour of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumour of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumour of the large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "CRC",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "large intestine cancer",
"description": ""
},
{
"id": "MIM:114500",
"resource": "MIM",
"url": "https://www.omim.org/entry/114500",
"name": "Colorectal cancer",
"description": "Colorectal cancer"
}
]
}
]
}
],
"species": [
{
"name": "Homo sapiens",
"taxid": 9606,
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"common_name": "Human"
}
],
"gene": [
{
"name": "ACADM",
"url": "https://www.uniprot.org/uniprot/P11310",
"locus": {
"chromosome": "1",
"start_pos": 44322,
"end_pos": 4990,
"strand": "-",
"evidence": [
{
"database": "Ensembl Gene",
"id": "LRG_838",
"url": "https://www.ensembl.org/id/LRG_838"
}
]
}
}
],
"crossref": [
{
"id": "ENSG00000117054",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000117054",
"database": "Bgee",
"categories": [
"Gene Expression"
]
},
{
"id": "1.3.8.7",
"url": "https://www.brenda-enzymes.org/enzyme.php?ecno=1.3.8.7&UniProtAcc=P11310",
"database": "BRENDA",
"categories": [
"Enzyme and Pathway"
]
},
{
"id": "cd01157",
"url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd01157",
"database": "CDD",
"categories": [
"Protein Classification"
]
},
{
"id": "CHEMBL4295713",
"url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL4295713",
"database": "ChEMBL",
"categories": [
"Other"
]
},
{
"id": "ACADM",
"url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACADM",
"database": "GeneCards",
"categories": [
"Gene Annotation",
"Organism-specific"
]
},
{
"id": "34",
"url": "https://www.ncbi.nlm.nih.gov/gene/34",
"database": "GeneID",
"categories": [
"Genome Annotation"
]
},
{
"id": "89",
"url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=89",
"database": "HGNC",
"categories": [
"Organism-specific"
]
},
{
"id": "P11310",
"url": "https://www.ebi.ac.uk/intact/interactors/id:P11310*",
"database": "IntAct",
"categories": [
"Other"
]
},
{
"id": "IPR006089",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR006089",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR006091",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR006091",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR009075",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR009075",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR009100",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR009100",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR013786",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR013786",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR034180",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR034180",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR036250",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR036250",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR037069",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR037069",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR046373",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR046373",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "hsa:34",
"url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:34",
"database": "KEGG Pathway",
"categories": [
"Enzyme and Pathway"
]
},
{
"id": "201450",
"url": "http://www.omim.org/entry/201450",
"database": "MIM",
"categories": [
"Other"
]
},
{
"id": "607008",
"url": "http://www.omim.org/entry/607008",
"database": "MIM",
"categories": [
"Other"
]
},
{
"id": "NX_P11310",
"url": "https://www.nextprot.org/entry/NX_P11310",
"database": "neXtProt",
"categories": [
"Protein",
"Organism-specific"
]
},
{
"id": "P11310",
"url": "https://oglcnac.org/atlas/detail/P11310",
"database": "O-GlcNAc Atlas",
"categories": [
"Glycoproteomics"
]
},
{
"id": "P11310",
"url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11310",
"database": "O-GlcNAc Database",
"categories": [
"Glycoproteomics"
]
},
{
"id": "LYREAPM",
"url": "https://omabrowser.org/oma/group/LYREAPM/",
"database": "OMA",
"categories": [
"Protein Classification"
]
},
{
"id": "275353at2759",
"url": "http://www.orthodb.org/?query=275353at2759",
"database": "OrthoDB",
"categories": [
"Protein Classification"
]
},
{
"id": "PTHR46254",
"url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46254",
"database": "PANTHER",
"categories": [
"Protein Classification"
]
},
{
"id": "PTHR48083",
"url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR48083",
"database": "PANTHER",
"categories": [
"Protein Classification"
]
},
{
"id": "PTHR48083:SF2",
"url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR48083:SF2",
"database": "PANTHER",
"categories": [
"Protein Classification"
]
},
{
"id": "1EGC",
"url": "https://www.rcsb.org/structure/1EGC",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "1EGD",
"url": "https://www.rcsb.org/structure/1EGD",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "1EGE",
"url": "https://www.rcsb.org/structure/1EGE",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "1T9G",
"url": "https://www.rcsb.org/structure/1T9G",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "2A1T",
"url": "https://www.rcsb.org/structure/2A1T",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "4P13",
"url": "https://www.rcsb.org/structure/4P13",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "PF00441",
"url": "http://pfam.xfam.org/family/PF00441",
"database": "Pfam",
"categories": [
"Protein Classification"
]
},
{
"id": "PF02770",
"url": "http://pfam.xfam.org/family/PF02770",
"database": "Pfam",
"categories": [
"Protein Classification"
]
},
{
"id": "PF02771",
"url": "http://pfam.xfam.org/family/PF02771",
"database": "Pfam",
"categories": [
"Protein Classification"
]
},
{
"id": "P11310",
"url": "https://pharos.nih.gov/targets/P11310",
"database": "PHAROS",
"categories": [
"Organism-specific"
]
},
{
"id": "PR_P11310",
"url": "http://purl.obolibrary.org/obo/PR_P11310",
"database": "PRO",
"categories": [
"Protein"
]
},
{
"id": "R-HSA-1989781",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "R-HSA-77288",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77288",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "R-HSA-77346",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77346",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "R-HSA-77348",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77348",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "NP_000007",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000007",
"database": "RefSeq",
"categories": [
"Protein"
]
},
{
"id": "14477",
"url": "https://www.rhea-db.org/rhea/14477",
"database": "Rhea",
"categories": [
"Enzyme and Pathway"
]
},
{
"id": "43448",
"url": "https://www.rhea-db.org/rhea/43448",
"database": "Rhea",
"categories": [
"Enzyme and Pathway"
]
},
{
"id": "43456",
"url": "https://www.rhea-db.org/rhea/43456",
"database": "Rhea",
"categories": [
"Enzyme and Pathway"
]
},
{
"id": "43464",
"url": "https://www.rhea-db.org/rhea/43464",
"database": "Rhea",
"categories": [
"Enzyme and Pathway"
]
},
{
"id": "47296",
"url": "https://www.rhea-db.org/rhea/47296",
"database": "Rhea",
"categories": [
"Enzyme and Pathway"
]
},
{
"id": "47316",
"url": "https://www.rhea-db.org/rhea/47316",
"database": "Rhea",
"categories": [
"Enzyme and Pathway"
]
},
{
"id": "48176",
"url": "https://www.rhea-db.org/rhea/48176",
"database": "Rhea",
"categories": [
"Enzyme and Pathway"
]
},
{
"id": "48180",
"url": "https://www.rhea-db.org/rhea/48180",
"database": "Rhea",
"categories": [
"Enzyme and Pathway"
]
},
{
"id": "A0A7P0T8B6",
"url": "https://www.uniprot.org/uniprot/A0A7P0T8B6",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A7P0T8B6-1",
"url": "https://www.uniprot.org/uniprot/A0A7P0T8B6-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A7P0T8G6",
"url": "https://www.uniprot.org/uniprot/A0A7P0T8G6",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A7P0T8G6-1",
"url": "https://www.uniprot.org/uniprot/A0A7P0T8G6-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A7P0T8J9",
"url": "https://www.uniprot.org/uniprot/A0A7P0T8J9",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A7P0T8J9-1",
"url": "https://www.uniprot.org/uniprot/A0A7P0T8J9-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A7P0T932",
"url": "https://www.uniprot.org/uniprot/A0A7P0T932",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A7P0T932-1",
"url": "https://www.uniprot.org/uniprot/A0A7P0T932-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A7P0T9W7",
"url": "https://www.uniprot.org/uniprot/A0A7P0T9W7",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A7P0T9W7-1",
"url": "https://www.uniprot.org/uniprot/A0A7P0T9W7-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A7P0TA39",
"url": "https://www.uniprot.org/uniprot/A0A7P0TA39",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A7P0TA39-1",
"url": "https://www.uniprot.org/uniprot/A0A7P0TA39-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A7P0TA63",
"url": "https://www.uniprot.org/uniprot/A0A7P0TA63",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A7P0TA63-1",
"url": "https://www.uniprot.org/uniprot/A0A7P0TA63-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A7P0TAB2",
"url": "https://www.uniprot.org/uniprot/A0A7P0TAB2",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A7P0TAB2-1",
"url": "https://www.uniprot.org/uniprot/A0A7P0TAB2-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A7P0TAZ5",
"url": "https://www.uniprot.org/uniprot/A0A7P0TAZ5",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A7P0TAZ5-1",
"url": "https://www.uniprot.org/uniprot/A0A7P0TAZ5-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A7P0TB28",
"url": "https://www.uniprot.org/uniprot/A0A7P0TB28",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A7P0TB28-1",
"url": "https://www.uniprot.org/uniprot/A0A7P0TB28-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A7P0TB51",
"url": "https://www.uniprot.org/uniprot/A0A7P0TB51",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A7P0TB51-1",
"url": "https://www.uniprot.org/uniprot/A0A7P0TB51-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A7P0TB55",
"url": "https://www.uniprot.org/uniprot/A0A7P0TB55",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A7P0TB55-1",
"url": "https://www.uniprot.org/uniprot/A0A7P0TB55-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A7P0TBD1",
"url": "https://www.uniprot.org/uniprot/A0A7P0TBD1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A7P0TBD1-1",
"url": "https://www.uniprot.org/uniprot/A0A7P0TBD1-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A7P0TBF2",
"url": "https://www.uniprot.org/uniprot/A0A7P0TBF2",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A7P0TBF2-1",
"url": "https://www.uniprot.org/uniprot/A0A7P0TBF2-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A7P0Z4Q0",
"url": "https://www.uniprot.org/uniprot/A0A7P0Z4Q0",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A7P0Z4Q0-1",
"url": "https://www.uniprot.org/uniprot/A0A7P0Z4Q0-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "E9PIX8",
"url": "https://www.uniprot.org/uniprot/E9PIX8",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "E9PIX8-1",
"url": "https://www.uniprot.org/uniprot/E9PIX8-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "E9PJM9",
"url": "https://www.uniprot.org/uniprot/E9PJM9",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "E9PJM9-1",
"url": "https://www.uniprot.org/uniprot/E9PJM9-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "E9PLN7",
"url": "https://www.uniprot.org/uniprot/E9PLN7",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "E9PLN7-1",
"url": "https://www.uniprot.org/uniprot/E9PLN7-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "E9PQA8",
"url": "https://www.uniprot.org/uniprot/E9PQA8",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "E9PQA8-1",
"url": "https://www.uniprot.org/uniprot/E9PQA8-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "E9PRX4",
"url": "https://www.uniprot.org/uniprot/E9PRX4",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "E9PRX4-1",
"url": "https://www.uniprot.org/uniprot/E9PRX4-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "F6YB23",
"url": "https://www.uniprot.org/uniprot/F6YB23",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "F6YB23-1",
"url": "https://www.uniprot.org/uniprot/F6YB23-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "H0YDT5",
"url": "https://www.uniprot.org/uniprot/H0YDT5",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "H0YDT5-1",
"url": "https://www.uniprot.org/uniprot/H0YDT5-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "P11310-1",
"url": "https://www.uniprot.org/uniprot/P11310-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "P11310-2",
"url": "https://www.uniprot.org/uniprot/P11310-2",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "Q5T4U5",
"url": "https://www.uniprot.org/uniprot/Q5T4U5",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "Q5T4U5-1",
"url": "https://www.uniprot.org/uniprot/Q5T4U5-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
}
],
"sequence": {
"sequence": "MAAGFGRCCRVLRSISRFHWRSQHTKANRQREPGLGFSFEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEYPVPLIRRAWELGLMNTHIPENCGGLGLGTFDACLISEELAYGCTGVQTAIEGNSLGQMPIIIAGNDQQKKKYLGRMTEEPLMCAYCVTEPGAGSDVAGIKTKAEKKGDEYIINGQKMWITNGGKANWYFLLARSDPDPKAPANKAFTGFIVEADTPGIQIGRKELNMGQRCSDTRGIVFEDVKVPKENVLIGDGAGFKVAMGAFDKTRPVVAAGAVGLAQRALDEATKYALERKTFGKLLVEHQAISFMLAEMAMKVELARMSYQRAAWEVDSGRRNTYYASIAKAFAGDIANQLATDAVQILGGNGFNTEYPVEKLMRDAKIYQIYEGTSQIQRLIVAREHIDKYKN",
"length": 421,
"header": "sp|P11310-1|ACADM_HUMAN Isoform 1 of Medium-chain specific acyl-CoA dehydrogenase, mitochondrial OS=Homo sapiens OX=9606 GN=ACADM PE=1 SV=1 CANONICAL=P11310-1"
},
"isoforms": [
{
"isoform_ac": "A0A7P0T8B6-1",
"url": "",
"sequence": {
"sequence": "MAAGFGRCCRVLRSISRFHWRSQHTKANRQREPGLGFSFGAVSLGMVSHACNPSTLGDHGRRIA",
"length": 64,
"header": "tr|A0A7P0T8B6-1|A0A7P0T8B6_HUMAN Computationally mapped isoform of Acyl-CoA dehydrogenase medium chain OS=Homo sapiens OX=9606 GN=ACADM PE=4 SV=1 CANONICAL=P11310-1"
},
"locus": {
"chromosome": "1",
"start_pos": 75731807,
"end_pos": 75724788,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000680662.1",
"url": "https://www.ensembl.org/id/ENST00000680662.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000505080.1",
"url": "https://www.ensembl.org/id/ENSP00000505080.1"
}
]
}
},
{
"isoform_ac": "A0A7P0T8G6-1",
"url": "",
"sequence": {
"sequence": "MNTHIPENCGGLGLGTFDACLISEELAYGCTGVQTAIEGNSLGQMPIIIAGNDQQKKKYLGRMTEEPLMCAYCVTEPGAGSDVAGIKTKAEKKGDEYIINGQKMWITNGGKANWYFLLARSDPDPKAPANKAFTGFIVEADTPGIQIGRKELNMGQRCSDTRGIVFEDVKVPKENVLIGDGAGFKVAMGAFDKTRPVVAAGAVGLAQRALDEATKYALERKTFGKLLVEHQAISFMLAEMAMKVELARMSYQRAAWEVDSGRRNTYYASIAKAFAGDIANQLATDAVQILGGNGFNTEYPVEKLMRDAKIYQIYEGTSQIQRLIVAREHIDKYKN",
"length": 335,
"header": "tr|A0A7P0T8G6-1|A0A7P0T8G6_HUMAN Computationally mapped isoform of medium-chain acyl-CoA dehydrogenase OS=Homo sapiens OX=9606 GN=ACADM PE=1 SV=1 CANONICAL=P11310-1"
},
"locus": {
"chromosome": "1",
"start_pos": 75762760,
"end_pos": 75732895,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000681790.1",
"url": "https://www.ensembl.org/id/ENST00000681790.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000505130.1",
"url": "https://www.ensembl.org/id/ENSP00000505130.1"
}
]
}
},
{
"isoform_ac": "A0A7P0T8J9-1",
"url": "",
"sequence": {
"sequence": "MAAGFGRCCRVLRSISRFHWRSQHTKANRQREPGLGFSFEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEYPVPLIRRAWELGLMNTHIPENCGGLGLGTFDACLISEELAYGCTGVQTAIEGNSLGQMPIIIAGNDQQKKKYLGRMTEEPLMCAYCVTEPGAGSDVAGIKTKAEKKGDEYIINGQKMWITNGGKANWN",
"length": 201,
"header": "tr|A0A7P0T8J9-1|ACADM_HUMAN Computationally mapped isoform of Medium-chain specific acyl-CoA dehydrogenase, mitochondrial OS=Homo sapiens OX=9606 GN=ACADM PE=1 SV=1 CANONICAL=P11310-1"
},
"locus": {
"chromosome": "1",
"start_pos": 75749422,
"end_pos": 75724788,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000680749.1",
"url": "https://www.ensembl.org/id/ENST00000680749.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000505122.1",
"url": "https://www.ensembl.org/id/ENSP00000505122.1"
}
]
}
},
{
"isoform_ac": "A0A7P0T932-1",
"url": "",
"sequence": {
"sequence": "MAAGFGRCCRVLRSISRFHWRSQHTKANRQREPGLGFSFEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEYPVPLIRRAWELGLMNTHIPENCGGLGLGTFDACLISEELAYGCTGVQTAIEGNSLGQMPIIIAGNDQQKKKYLGRMTEEPLMCAYCVTEPGAGSDVAGIKTKAEKKGDEYIINGQKMWITNGGKANWYFLLARSDPDPKAPANKAFTGFIVEADTPGIQIGRKVAAGAVGLAQRALDEATKYALERKTFGKLLVEHQAISFMLAEMAMKVELARMSYQRAAWEVDSGRRNTYYASIAKAFAGDIANQLATDAVQILGGNGFNTEYPVEKLMRDAKIYQIYEGTSQIQRLIVAREHIDKYKN",
"length": 374,
"header": "tr|A0A7P0T932-1|ACADM_HUMAN Computationally mapped isoform of Medium-chain specific acyl-CoA dehydrogenase, mitochondrial OS=Homo sapiens OX=9606 GN=ACADM PE=1 SV=1 CANONICAL=P11310-1"
},
"locus": {
"chromosome": "1",
"start_pos": 75762760,
"end_pos": 75724788,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000680805.1",
"url": "https://www.ensembl.org/id/ENST00000680805.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000505447.1",
"url": "https://www.ensembl.org/id/ENSP00000505447.1"
}
]
}
},
{
"isoform_ac": "A0A7P0T9W7-1",
"url": "",
"sequence": {
"sequence": "MAAGFGRCCRVLRSISRFHWRSQHTKANRQREPGLGFSFEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEVVSSPPN",
"length": 79,
"header": "tr|A0A7P0T9W7-1|ACADM_HUMAN Computationally mapped isoform of Medium-chain specific acyl-CoA dehydrogenase, mitochondrial OS=Homo sapiens OX=9606 GN=ACADM PE=1 SV=1 CANONICAL=P11310-1"
},
"locus": {
"chromosome": "1",
"start_pos": 75732869,
"end_pos": 75724788,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000681209.1",
"url": "https://www.ensembl.org/id/ENST00000681209.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000505877.1",
"url": "https://www.ensembl.org/id/ENSP00000505877.1"
}
]
}
},
{
"isoform_ac": "A0A7P0TA39-1",
"url": "",
"sequence": {
"sequence": "MAAGFGRCCRVLRSISRFHWRSQHTKANRQREPGLGFSFEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEYPVPLIRRAWELGLMNTHIPENCGLLCNRTWSRL",
"length": 106,
"header": "tr|A0A7P0TA39-1|ACADM_HUMAN Computationally mapped isoform of Medium-chain specific acyl-CoA dehydrogenase, mitochondrial OS=Homo sapiens OX=9606 GN=ACADM PE=1 SV=1 CANONICAL=P11310-1"
},
"locus": {
"chromosome": "1",
"start_pos": 75740011,
"end_pos": 75724788,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000680517.1",
"url": "https://www.ensembl.org/id/ENST00000680517.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000505803.1",
"url": "https://www.ensembl.org/id/ENSP00000505803.1"
}
]
}
},
{
"isoform_ac": "A0A7P0TA63-1",
"url": "",
"sequence": {
"sequence": "MAAGFGRCCRVLRSISRFHWRSQHTKANRQREPGLGFSFEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEYPVPLIRRAWELGLMNTHIPENCGGLGLGTFDACLISEELAYGCTGVQTAIEGNSLGQMPIIIAGNDQQKKKYLGRMTEEPLMCAYCVTEPGAGSDVAGIKTKAEKKGDEYIINGQKMWITNGGKANWPHFLAQDTKRHSLLALVSNVSSLRPGCSWIQSHESQ",
"length": 236,
"header": "tr|A0A7P0TA63-1|ACADM_HUMAN Computationally mapped isoform of Medium-chain specific acyl-CoA dehydrogenase, mitochondrial OS=Homo sapiens OX=9606 GN=ACADM PE=1 SV=1 CANONICAL=P11310-1"
},
"locus": {
"chromosome": "1",
"start_pos": 75742276,
"end_pos": 75724788,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000681037.1",
"url": "https://www.ensembl.org/id/ENST00000681037.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000506025.1",
"url": "https://www.ensembl.org/id/ENSP00000506025.1"
}
]
}
},
{
"isoform_ac": "A0A7P0TAB2-1",
"url": "",
"sequence": {
"sequence": "MAAGFGRCCRVLRSISRFHWRSQHTKANRQREPGLGFSFEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEYPVPLIRRAWELGLMNTHIPENCGGLGLGTFDACLISEELAYGCTGVQTAIEGNSLGQMPIIIAGNDQQKKKYLGRMTEEPLMCAYCVTEPGAGSDVAGIKTKAEKKGDEYIINGQKMWITNGGKAN",
"length": 199,
"header": "tr|A0A7P0TAB2-1|A0A7P0TAB2_HUMAN Computationally mapped isoform of medium-chain acyl-CoA dehydrogenase OS=Homo sapiens OX=9606 GN=ACADM PE=1 SV=1 CANONICAL=P11310-1"
},
"locus": {
"chromosome": "1",
"start_pos": 75740110,
"end_pos": 75724788,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000680613.1",
"url": "https://www.ensembl.org/id/ENST00000680613.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000506114.1",
"url": "https://www.ensembl.org/id/ENSP00000506114.1"
}
]
}
},
{
"isoform_ac": "A0A7P0TAZ5-1",
"url": "",
"sequence": {
"sequence": "MAAGFGRCCRSSPNSRKNFKLLLVNLPERKSSQWLQNMIKLVNSFSSSIQSP",
"length": 52,
"header": "tr|A0A7P0TAZ5-1|ACADM_HUMAN Computationally mapped isoform of Medium-chain specific acyl-CoA dehydrogenase, mitochondrial OS=Homo sapiens OX=9606 GN=ACADM PE=1 SV=1 CANONICAL=P11310-1"
},
"locus": {
"chromosome": "1",
"start_pos": 75732865,
"end_pos": 75724788,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000681916.1",
"url": "https://www.ensembl.org/id/ENST00000681916.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000506477.1",
"url": "https://www.ensembl.org/id/ENSP00000506477.1"
}
]
}
},
{
"isoform_ac": "A0A7P0TB28-1",
"url": "",
"sequence": {
"sequence": "MAAGFGRCCRVLRSISRFHWRSQHTKANRQREPGLGFSFEFTEQQKEFQATARKFAREEIIPVAAEYDKTGESP",
"length": 74,
"header": "tr|A0A7P0TB28-1|ACADM_HUMAN Computationally mapped isoform of Medium-chain specific acyl-CoA dehydrogenase, mitochondrial OS=Homo sapiens OX=9606 GN=ACADM PE=1 SV=1 CANONICAL=P11310-1"
},
"locus": {
"chromosome": "1",
"start_pos": 75732865,
"end_pos": 75724788,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000679530.1",
"url": "https://www.ensembl.org/id/ENST00000679530.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000506454.1",
"url": "https://www.ensembl.org/id/ENSP00000506454.1"
}
]
}
},
{
"isoform_ac": "A0A7P0TB51-1",
"url": "",
"sequence": {
"sequence": "MAAGFGRCCRVLRSISRFHWRSQHTKANRQREPGLGFSFEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEYPVPLIRRAWELGLMNTHIPENCGGLGLGTFDACLISEELAYGCTGVQTAIEGNSLGQMPIIIAGNDQQKKKYLGRMTEEPLMCAYCVTEPGAGSDVAGIKTKAEKKGDEYIINGQKMWITNGGKANWYFLLARSDPDPKAPANKAFTGFIVEADTPGIQIGRKELNMGQRCSDTRGIVFEDVKVPKENVLIGDGAGFKVAMGAFDKTRPVVAAGAVGLAQRALDEATKYALERKTFGKLLVEMESRSVAQARVQWHNLGSPQSPPPEFE",
"length": 342,
"header": "tr|A0A7P0TB51-1|ACADM_HUMAN Computationally mapped isoform of Medium-chain specific acyl-CoA dehydrogenase, mitochondrial OS=Homo sapiens OX=9606 GN=ACADM PE=1 SV=1 CANONICAL=P11310-1"
},
"locus": {
"chromosome": "1",
"start_pos": 75750850,
"end_pos": 75724788,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000681430.1",
"url": "https://www.ensembl.org/id/ENST00000681430.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000506301.1",
"url": "https://www.ensembl.org/id/ENSP00000506301.1"
}
]
}
},
{
"isoform_ac": "A0A7P0TB55-1",
"url": "",
"sequence": {
"sequence": "MAAGFGRCCRAYCVTEPGAGSDVAGIKTKAEKKGDEYIINGQKMWITNGGKANWYFLLARSDPDPKAPANKAFTGFIVEADTPGIQIGRKELNMGQRCSDTRGIVFEDVKVPKENVLIGDGAGFKVAMGAFDKTRPVVAAGAVGLAQRALDEATKYALERKTFGKLLVEHQAISFMLAEMAMKVELARMSYQRAAWEVDSGRRNTYYASIAKAFAGDIANQLATDAVQILGGNGFNTEYPVEKLMRDAKIYQIYEGTSQIQRLIVAREHIDKYKN",
"length": 275,
"header": "tr|A0A7P0TB55-1|ACADM_HUMAN Computationally mapped isoform of Medium-chain specific acyl-CoA dehydrogenase, mitochondrial OS=Homo sapiens OX=9606 GN=ACADM PE=1 SV=1 CANONICAL=P11310-1"
},
"locus": {
"chromosome": "1",
"start_pos": 75762760,
"end_pos": 75724788,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000679687.1",
"url": "https://www.ensembl.org/id/ENST00000679687.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000506598.1",
"url": "https://www.ensembl.org/id/ENSP00000506598.1"
}
]
}
},
{
"isoform_ac": "A0A7P0TBD1-1",
"url": "",
"sequence": {
"sequence": "MAAGFGRCCRVLRSISRFHWRSQHTKANRQREPGLGFSFEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEYPVPLIRRAWELGLMNTHIPENCGGLGLGTFDACLISEELAYGCTGVQTAIEGNSLGQMPIIIAGNDQQKKKYLGRMTEEPLMCAYCVTEPGAGSDVAGIKTKAEKKGDEYIINGQKMWITNGGKANW",
"length": 200,
"header": "tr|A0A7P0TBD1-1|ACADM_HUMAN Computationally mapped isoform of Medium-chain specific acyl-CoA dehydrogenase, mitochondrial OS=Homo sapiens OX=9606 GN=ACADM PE=1 SV=1 CANONICAL=P11310-1"
},
"locus": {
"chromosome": "1",
"start_pos": 75750451,
"end_pos": 75724788,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000681063.1",
"url": "https://www.ensembl.org/id/ENST00000681063.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000506616.1",
"url": "https://www.ensembl.org/id/ENSP00000506616.1"
}
]
}
},
{
"isoform_ac": "A0A7P0TBF2-1",
"url": "",
"sequence": {
"sequence": "MAAGFGRCCRTESCSVTQAGMQWCSLGSLQPPPSGFKRFSCLSVPSSWDYRS",
"length": 52,
"header": "tr|A0A7P0TBF2-1|ACADM_HUMAN Computationally mapped isoform of Medium-chain specific acyl-CoA dehydrogenase, mitochondrial OS=Homo sapiens OX=9606 GN=ACADM PE=1 SV=1 CANONICAL=P11310-1"
},
"locus": {
"chromosome": "1",
"start_pos": 75728404,
"end_pos": 75724788,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000679709.1",
"url": "https://www.ensembl.org/id/ENST00000679709.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000506623.1",
"url": "https://www.ensembl.org/id/ENSP00000506623.1"
}
]
}
},
{
"isoform_ac": "A0A7P0Z4Q0-1",
"url": "",
"sequence": {
"sequence": "MAAGFGRCCRSSPNSRKNFKLLLVNLPERKSSQWLQNMIKLVK",
"length": 43,
"header": "tr|A0A7P0Z4Q0-1|ACADM_HUMAN Computationally mapped isoform of Medium-chain specific acyl-CoA dehydrogenase, mitochondrial OS=Homo sapiens OX=9606 GN=ACADM PE=1 SV=1 CANONICAL=P11310-1"
},
"locus": {
"chromosome": "1",
"start_pos": 75732742,
"end_pos": 75724788,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000680844.1",
"url": "https://www.ensembl.org/id/ENST00000680844.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000506541.1",
"url": "https://www.ensembl.org/id/ENSP00000506541.1"
}
]
}
},
{
"isoform_ac": "E9PIX8-1",
"url": "",
"sequence": {
"sequence": "MAAGFGRCCRSSPNSRKNFKLLLVNLPERKSSQWLQNMIKLVNIQSP",
"length": 47,
"header": "tr|E9PIX8-1|ACADM_HUMAN Computationally mapped isoform of Medium-chain specific acyl-CoA dehydrogenase, mitochondrial OS=Homo sapiens OX=9606 GN=ACADM PE=1 SV=1 CANONICAL=P11310-1"
},
"locus": {
"chromosome": "1",
"start_pos": 75732865,
"end_pos": 75724788,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000681361.1",
"url": "https://www.ensembl.org/id/ENST00000681361.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000506679.1",
"url": "https://www.ensembl.org/id/ENSP00000506679.1"
}
]
}
},
{
"isoform_ac": "E9PJM9-1",
"url": "",
"sequence": {
"sequence": "MAAGFGRCCRVLRSISRFHWRSQHTKANRQREPGLGFSFEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEYPVPLIRRAWELGLMNTHIPENCANAYYYCWK",
"length": 104,
"header": "tr|E9PJM9-1|ACADM_HUMAN Computationally mapped isoform of Medium-chain specific acyl-CoA dehydrogenase, mitochondrial OS=Homo sapiens OX=9606 GN=ACADM PE=1 SV=1 CANONICAL=P11310-1"
},
"locus": {
"chromosome": "1",
"start_pos": 75734816,
"end_pos": 75724788,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000534334.5",
"url": "https://www.ensembl.org/id/ENST00000534334.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000435584.1",
"url": "https://www.ensembl.org/id/ENSP00000435584.1"
}
]
}
},
{
"isoform_ac": "E9PLN7-1",
"url": "",
"sequence": {
"sequence": "MAAGFGRCCRVLRSISRFHWRSQHTKANRQREPGLGFSFGLLCNRTWSRL",
"length": 50,
"header": "tr|E9PLN7-1|E9PLN7_HUMAN Computationally mapped isoform of Acyl-CoA dehydrogenase medium chain OS=Homo sapiens OX=9606 GN=ACADM PE=4 SV=1 CANONICAL=P11310-1"
},
"locus": {
"chromosome": "1",
"start_pos": 75740011,
"end_pos": 75724788,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000530953.6",
"url": "https://www.ensembl.org/id/ENST00000530953.6"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000431372.1",
"url": "https://www.ensembl.org/id/ENSP00000431372.1"
}
]
}
},
{
"isoform_ac": "E9PQA8-1",
"url": "",
"sequence": {
"sequence": "MAAGFGRCCRVLRSISRFHWRSQHTKANRQREPGLGFSFVSSPPN",
"length": 45,
"header": "tr|E9PQA8-1|ACADM_HUMAN Computationally mapped isoform of Medium-chain specific acyl-CoA dehydrogenase, mitochondrial OS=Homo sapiens OX=9606 GN=ACADM PE=1 SV=1 CANONICAL=P11310-1"
},
"locus": {
"chromosome": "1",
"start_pos": 75732869,
"end_pos": 75724788,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000532509.5",
"url": "https://www.ensembl.org/id/ENST00000532509.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000432522.1",
"url": "https://www.ensembl.org/id/ENSP00000432522.1"
}
]
}
},
{
"isoform_ac": "E9PRX4-1",
"url": "",
"sequence": {
"sequence": "MAAGFGRCCRVLRSISRFHWRSQHTKANRQREPGLGFSFEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEFFFF",
"length": 76,
"header": "tr|E9PRX4-1|ACADM_HUMAN Computationally mapped isoform of Medium-chain specific acyl-CoA dehydrogenase, mitochondrial OS=Homo sapiens OX=9606 GN=ACADM PE=1 SV=1 CANONICAL=P11310-1"
},
"locus": {
"chromosome": "1",
"start_pos": 75732849,
"end_pos": 75724788,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000526129.5",
"url": "https://www.ensembl.org/id/ENST00000526129.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000434092.1",
"url": "https://www.ensembl.org/id/ENSP00000434092.1"
}
]
}
},
{
"isoform_ac": "F6YB23-1",
"url": "",
"sequence": {
"sequence": "MAAGFGRCCRVLRSISRFHWRSQHTKANRQREPGLGFSFEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEYPVPLIRRAWELGLMNTHIPENCGGLGLGTFDACLISEELAYGCTGVQTAIEGNSLGQMPIIIAGNDQQKKKYLGRMTEEPLMCAYCVTEPGAGSDVAGIKTKAEKKGDEYIINGQKMWITNGGKANWYFLLARSDPDPKAPANKAFTGFIVEADTPGIQIGRKELNMGQRCSDTRGIVFEDVKVPKENVLIGDGAGFKVAMGAFDKTRPVHQAISFMLAEMAMKVELARMSYQRAAWEVDSGRRNTYYASIAKAFAGDIANQLATDAVQILGGNGFNTEYPVEKLMRDAKIYQIYEGTSQIQRLIVAREHIDKYKN",
"length": 389,
"header": "tr|F6YB23-1|ACADM_HUMAN Computationally mapped isoform of Medium-chain specific acyl-CoA dehydrogenase, mitochondrial OS=Homo sapiens OX=9606 GN=ACADM PE=1 SV=1 CANONICAL=P11310-1"
},
"locus": {
"chromosome": "1",
"start_pos": 75762760,
"end_pos": 75724788,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000541113.6",
"url": "https://www.ensembl.org/id/ENST00000541113.6"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000442324.2",
"url": "https://www.ensembl.org/id/ENSP00000442324.2"
}
]
}
},
{
"isoform_ac": "H0YDT5-1",
"url": "",
"sequence": {
"sequence": "LIGDGAGFKVAMGAFDKTRPVVAAGAVGLAQRALDEATKYALERKTFGKLLVEVLFPLHLPTSLKVS",
"length": 67,
"header": "tr|H0YDT5-1|ACADM_HUMAN Computationally mapped isoform of Medium-chain specific acyl-CoA dehydrogenase, mitochondrial OS=Homo sapiens OX=9606 GN=ACADM PE=1 SV=1 CANONICAL=P11310-1"
},
"locus": {
"chromosome": "1",
"start_pos": 75769218,
"end_pos": 75749497,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000528016.1",
"url": "https://www.ensembl.org/id/ENST00000528016.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000434284.1",
"url": "https://www.ensembl.org/id/ENSP00000434284.1"
}
]
}
},
{
"isoform_ac": "P11310-1",
"url": "",
"sequence": {
"sequence": "MAAGFGRCCRVLRSISRFHWRSQHTKANRQREPGLGFSFEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEYPVPLIRRAWELGLMNTHIPENCGGLGLGTFDACLISEELAYGCTGVQTAIEGNSLGQMPIIIAGNDQQKKKYLGRMTEEPLMCAYCVTEPGAGSDVAGIKTKAEKKGDEYIINGQKMWITNGGKANWYFLLARSDPDPKAPANKAFTGFIVEADTPGIQIGRKELNMGQRCSDTRGIVFEDVKVPKENVLIGDGAGFKVAMGAFDKTRPVVAAGAVGLAQRALDEATKYALERKTFGKLLVEHQAISFMLAEMAMKVELARMSYQRAAWEVDSGRRNTYYASIAKAFAGDIANQLATDAVQILGGNGFNTEYPVEKLMRDAKIYQIYEGTSQIQRLIVAREHIDKYKN",
"length": 421,
"header": "sp|P11310-1|ACADM_HUMAN Isoform 1 of Medium-chain specific acyl-CoA dehydrogenase, mitochondrial OS=Homo sapiens OX=9606 GN=ACADM PE=1 SV=1 CANONICAL=P11310-1"
},
"locus": {
"chromosome": "1",
"start_pos": 75762760,
"end_pos": 75724788,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000370841.9",
"url": "https://www.ensembl.org/id/ENST00000370841.9"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000359878.5",
"url": "https://www.ensembl.org/id/ENSP00000359878.5"
}
]
}
},
{
"isoform_ac": "P11310-2",
"url": "",
"sequence": {
"sequence": "MAAGFGRCCRCSLQVLRSISRFHWRSQHTKANRQREPGLGFSFEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEYPVPLIRRAWELGLMNTHIPENCGGLGLGTFDACLISEELAYGCTGVQTAIEGNSLGQMPIIIAGNDQQKKKYLGRMTEEPLMCAYCVTEPGAGSDVAGIKTKAEKKGDEYIINGQKMWITNGGKANWYFLLARSDPDPKAPANKAFTGFIVEADTPGIQIGRKELNMGQRCSDTRGIVFEDVKVPKENVLIGDGAGFKVAMGAFDKTRPVVAAGAVGLAQRALDEATKYALERKTFGKLLVEHQAISFMLAEMAMKVELARMSYQRAAWEVDSGRRNTYYASIAKAFAGDIANQLATDAVQILGGNGFNTEYPVEKLMRDAKIYQIYEGTSQIQRLIVAREHIDKYKN",
"length": 425,
"header": "sp|P11310-2|ACADM_HUMAN Isoform 2 of Medium-chain specific acyl-CoA dehydrogenase, mitochondrial OS=Homo sapiens OX=9606 GN=ACADM PE=1 SV=1 CANONICAL=P11310-1"
},
"locus": {
"chromosome": "1",
"start_pos": 75762760,
"end_pos": 75724788,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000420607.6",
"url": "https://www.ensembl.org/id/ENST00000420607.6"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000409612.2",
"url": "https://www.ensembl.org/id/ENSP00000409612.2"
}
]
}
},
{
"isoform_ac": "Q5T4U5-1",
"url": "",
"sequence": {
"sequence": "MAAGFGRCCRVLRSISRFHWRSQHTKANRQREPGLGFSFEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEYPVPLIRRAWELGLMNTHIPENCDYSVCPLLEACTLYLDAFFLLLTGSNLNLHLNLGGLGLGTFDACLISEELAYGCTGVQTAIEGNSLGQMPIIIAGNDQQKKKYLGRMTEEPLMCAYCVTEPGAGSDVAGIKTKAEKKGDEYIINGQKMWITNGGKANWYFLLARSDPDPKAPANKAFTGFIVEADTPGIQIGRKELNMGQRCSDTRGIVFEDVKVPKENVLIGDGAGFKVAMGAFDKTRPVVAAGAVGLAQRALDEATKYALERKTFGKLLVEHQAISFMLAEMAMKVELARMSYQRAAWEVDSGRRNTYYASIAKAFAGDIANQLATDAVQILGGNGFNTEYPVEKLMRDAKIYQIYEGTSQIQRLIVAREHIDKYKN",
"length": 454,
"header": "tr|Q5T4U5-1|ACADM_HUMAN Computationally mapped isoform of Medium-chain specific acyl-CoA dehydrogenase, mitochondrial OS=Homo sapiens OX=9606 GN=ACADM PE=1 SV=1 CANONICAL=P11310-1"
},
"locus": {
"chromosome": "1",
"start_pos": 75762760,
"end_pos": 75724788,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000370834.9",
"url": "https://www.ensembl.org/id/ENST00000370834.9"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000359871.5",
"url": "https://www.ensembl.org/id/ENSP00000359871.5"
}
]
}
}
],
"glycosylation": [
{
"glytoucan_ac": "G49108TO",
"type": "O-linked",
"subtype": "O-GlcNAcylation",
"site_category": "reported_with_glycan",
"site_seq": "T",
"relation": "attached",
"comment": "O-GlcNAcylation",
"start_pos": 280,
"start_aa": "Thr",
"end_pos": 280,
"end_aa": "Thr",
"residue": "Thr",
"site_lbl": "Thr280",
"evidence": [
{
"id": "P11310",
"database": "O-GlcNAc Database",
"url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11310"
},
{
"id": "32119511",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/32119511"
},
{
"id": "35008409",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/35008409"
},
{
"id": "28510447",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/28510447"
},
{
"id": "33465208",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/33465208"
},
{
"id": "34229054",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/34229054"
},
{
"id": "P11310",
"database": "O-GlcNAc Atlas",
"url": "https://oglcnac.org/atlas/detail/P11310"
}
]
}
],
"phosphorylation": [
{
"start_pos": 351,
"end_pos": 351,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Thr",
"comment": "Phosphothreonine",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"site_lbl": "Thr351"
}
],
"glycation": [],
"keywords": [
"enzyme",
"glycoprotein",
"glycoprotein_reported_with_glycan"
],
"publication": [
{
"title": "Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.",
"journal": "Molecular genetics and metabolism",
"date": "2000",
"authors": "Yang BZ, Ding JH, Zhou C, Dimachkie MM, Sweetman L, Dasouki MJ, Wilkinson J, Roe CR",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"reference": [
{
"type": "PubMed",
"id": "10767181",
"url": "https://glygen.org/publication/PubMed/10767181"
}
]
},
{
"title": "The murine and human cholesterol 7alpha-hydroxylase gene promoters are differentially responsive to regulation by fatty acids mediated via peroxisome proliferator-activated receptor alpha.",
"journal": "The Journal of biological chemistry",
"date": "2000",
"authors": "Cheema SK, Agellon LB",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-1989781",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781"
}
],
"reference": [
{
"type": "PubMed",
"id": "10777541",
"url": "https://glygen.org/publication/PubMed/10777541"
}
]
},
{
"title": "Alternative splicing and tissue-specific transcription of human and rodent ubiquitous 5-aminolevulinate synthase (ALAS1) genes.",
"journal": "Biochimica et biophysica acta",
"date": "2001",
"authors": "Roberts AG, Elder GH",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-1989781",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781"
}
],
"reference": [
{
"type": "PubMed",
"id": "11267664",
"url": "https://glygen.org/publication/PubMed/11267664"
}
]
},
{
"title": "Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.",
"journal": "American journal of human genetics",
"date": "2001",
"authors": "Andresen BS, Dobrowolski SF, O'Reilly L, Muenzer J, McCandless SE, Frazier DM, Udvari S, Bross P, Knudsen I, Banas R, Chace DH, Engel P, Naylor EW, Gregersen N",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"reference": [
{
"type": "PubMed",
"id": "11349232",
"url": "https://glygen.org/publication/PubMed/11349232"
}
]
},
{
"title": "Molecular and functional characterisation of mild MCAD deficiency.",
"journal": "Human genetics",
"date": "2001",
"authors": "Zschocke J, Schulze A, Lindner M, Fiesel S, Olgemoller K, Hoffmann GF, Penzien J, Ruiter JP, Wanders RJ, Mayatepek E",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"reference": [
{
"type": "PubMed",
"id": "11409868",
"url": "https://glygen.org/publication/PubMed/11409868"
}
]
},
{
"title": "Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency.",
"journal": "Journal of inherited metabolic disease",
"date": "2001",
"authors": "Albers S, Levy HL, Irons M, Strauss AW, Marsden D",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"reference": [
{
"type": "PubMed",
"id": "11486912",
"url": "https://glygen.org/publication/PubMed/11486912"
}
]
},
{
"title": "Peroxisome proliferator-activated receptor alpha (PPARalpha ) turnover by the ubiquitin-proteasome system controls the ligand-induced expression level of its target genes.",
"journal": "The Journal of biological chemistry",
"date": "2002",
"authors": "Blanquart C, Barbier O, Fruchart JC, Staels B, Glineur C",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-1989781",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781"
}
],
"reference": [
{
"type": "PubMed",
"id": "12118000",
"url": "https://glygen.org/publication/PubMed/12118000"
}
]
},
{
"title": "Transcriptional activities of nuclear SREBP-1a, -1c, and -2 to different target promoters of lipogenic and cholesterogenic genes.",
"journal": "Journal of lipid research",
"date": "2002",
"authors": "Amemiya-Kudo M, Shimano H, Hasty AH, Yahagi N, Yoshikawa T, Matsuzaka T, Okazaki H, Tamura Y, Iizuka Y, Ohashi K, Osuga J, Harada K, Gotoda T, Sato R, Kimura S, Ishibashi S, Yamada N",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-1989781",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781"
}
],
"reference": [
{
"type": "PubMed",
"id": "12177166",
"url": "https://glygen.org/publication/PubMed/12177166"
}
]
},
{
"title": "Regulation of P450 4A expression by peroxisome proliferator activated receptors.",
"journal": "Toxicology",
"date": "2002",
"authors": "Johnson EF, Hsu MH, Savas U, Griffin KJ",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-1989781",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781"
}
],
"reference": [
{
"type": "PubMed",
"id": "12505311",
"url": "https://glygen.org/publication/PubMed/12505311"
}
]
},
{
"title": "The UDP-glucuronosyltransferase 1A9 enzyme is a peroxisome proliferator-activated receptor alpha and gamma target gene.",
"journal": "The Journal of biological chemistry",
"date": "2003",
"authors": "Barbier O, Villeneuve L, Bocher V, Fontaine C, Torra IP, Duhem C, Kosykh V, Fruchart JC, Guillemette C, Staels B",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-1989781",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781"
}
],
"reference": [
{
"type": "PubMed",
"id": "12582161",
"url": "https://glygen.org/publication/PubMed/12582161"
}
]
},
{
"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",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-77346",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77346"
}
],
"reference": [
{
"type": "PubMed",
"id": "12654921",
"url": "https://glygen.org/publication/PubMed/12654921"
}
]
},
{
"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",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-77348",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77348"
}
],
"reference": [
{
"type": "PubMed",
"id": "13295225",
"url": "https://glygen.org/publication/PubMed/13295225"
}
]
},
{
"title": "Enzymes of fatty acid metabolism. II. Properties of crystalline crotonase.",
"journal": "The Journal of biological chemistry",
"date": "1956",
"authors": "STERN JR, DEL CAMPILLO A",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-77348",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77348"
}
],
"reference": [
{
"type": "PubMed",
"id": "13295248",
"url": "https://glygen.org/publication/PubMed/13295248"
}
]
},
{
"title": "Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene.",
"journal": "Human mutation",
"date": "1992",
"authors": "Tanaka K, Yokota I, Coates P M, Strauss A W, Kelly D P, Zhang Z, Gregersen N, Andresen B S, Matsubara Y, Curtis D",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"reference": [
{
"type": "PubMed",
"id": "1363805",
"url": "https://glygen.org/publication/PubMed/1363805"
}
]
},
{
"title": "Effect of peroxisome proliferator-activated receptor alpha on human angiotensinogen promoter.",
"journal": "International journal of molecular medicine",
"date": "2004",
"authors": "Shimamoto Y, Hirota K, Fukamizu A",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-1989781",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781"
}
],
"reference": [
{
"type": "PubMed",
"id": "15067378",
"url": "https://glygen.org/publication/PubMed/15067378"
}
]
},
{
"title": "Functional analysis of peroxisome-proliferator-responsive element motifs in genes of fatty acid-binding proteins.",
"journal": "The Biochemical journal",
"date": "2004",
"authors": "Schachtrup C, Emmler T, Bleck B, Sandqvist A, Spener F",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-1989781",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781"
}
],
"reference": [
{
"type": "PubMed",
"id": "15130092",
"url": "https://glygen.org/publication/PubMed/15130092"
}
]
},
{
"title": "Extensive domain motion and electron transfer in the human electron transferring flavoprotein.medium chain Acyl-CoA dehydrogenase complex.",
"journal": "The Journal of biological chemistry",
"date": "2004",
"authors": "Toogood HS, van Thiel A, Basran J, Sutcliffe MJ, Scrutton NS, Leys D",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"reference": [
{
"type": "PubMed",
"id": "15159392",
"url": "https://glygen.org/publication/PubMed/15159392"
}
]
},
{
"title": "Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria.",
"journal": "Biochemical and biophysical research communications",
"date": "1992",
"authors": "Carpenter K, Pollitt RJ, Middleton B",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-77348",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77348"
}
],
"reference": [
{
"type": "PubMed",
"id": "1550553",
"url": "https://glygen.org/publication/PubMed/1550553"
}
]
},
{
"title": "Regulation of human hepatic hydroxysteroid sulfotransferase gene expression by the peroxisome proliferator-activated receptor alpha transcription factor.",
"journal": "Molecular pharmacology",
"date": "2005",
"authors": "Fang HL, Strom SC, Cai H, Falany CN, Kocarek TA, Runge-Morris M",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-1989781",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781"
}
],
"reference": [
{
"type": "PubMed",
"id": "15635043",
"url": "https://glygen.org/publication/PubMed/15635043"
}
]
},
{
"title": "Stabilization of non-productive conformations underpins rapid electron transfer to electron-transferring flavoprotein.",
"journal": "The Journal of biological chemistry",
"date": "2005",
"authors": "Toogood HS, van Thiel A, Scrutton NS, Leys D",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"reference": [
{
"type": "PubMed",
"id": "15975918",
"url": "https://glygen.org/publication/PubMed/15975918"
}
]
},
{
"title": "Human acyl-CoA dehydrogenase-9 plays a novel role in the mitochondrial beta-oxidation of unsaturated fatty acids.",
"journal": "J. Biol. Chem.",
"date": "2005",
"authors": "Ensenauer R, He M, Willard JM, Goetzman ES, Corydon TJ, Vandahl BB, Mohsen AW, Isaya G, Vockley J",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"reference": [
{
"type": "PubMed",
"id": "16020546",
"url": "https://glygen.org/publication/PubMed/16020546"
}
]
},
{
"title": "Identification of novel PPARgamma target genes in primary human adipocytes.",
"journal": "Gene",
"date": "2006",
"authors": "Perera RJ, Marcusson EG, Koo S, Kang X, Kim Y, White N, Dean NM",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-1989781",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781"
}
],
"reference": [
{
"type": "PubMed",
"id": "16380219",
"url": "https://glygen.org/publication/PubMed/16380219"
}
]
},
{
"title": "Frequency of the G985 MCAD mutation in the general population.",
"journal": "Lancet (London, England)",
"date": "1991-02-02",
"authors": "Blakemore A I, Singleton H, Pollitt R J, Engel P C, Kolvraa S, Gregersen N, Curtis D",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"reference": [
{
"type": "PubMed",
"id": "1671131",
"url": "https://glygen.org/publication/PubMed/1671131"
}
]
},
{
"title": "Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency.",
"journal": "American journal of human genetics",
"date": "1991",
"authors": "Yokota I, Coates PM, Hale DE, Rinaldo P, Tanaka K",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"reference": [
{
"type": "PubMed",
"id": "1684086",
"url": "https://glygen.org/publication/PubMed/1684086"
}
]
},
{
"title": "The consensus coding sequences of human breast and colorectal cancers.",
"journal": "Science (New York, N.Y.)",
"date": "2006",
"authors": "Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"reference": [
{
"type": "PubMed",
"id": "16959974",
"url": "https://glygen.org/publication/PubMed/16959974"
}
]
},
{
"title": "The arylhydrocarbon receptor repressor (AhRR): structure, expression, and function.",
"journal": "Biological chemistry",
"date": "2006",
"authors": "Haarmann-Stemmann T, Abel J",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-1989781",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781"
}
],
"reference": [
{
"type": "PubMed",
"id": "16972786",
"url": "https://glygen.org/publication/PubMed/16972786"
}
]
},
{
"title": "Structural organization and regulatory regions of the human medium-chain acyl-CoA dehydrogenase gene.",
"journal": "Biochemistry",
"date": "1992",
"authors": "Zhang ZF, Kelly DP, Kim JJ, Zhou YQ, Ogden ML, Whelan AJ, Strauss AW",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"reference": [
{
"type": "PubMed",
"id": "1731887",
"url": "https://glygen.org/publication/PubMed/1731887"
}
]
},
{
"title": "Structural enzymological studies of 2-enoyl thioester reductase of the human mitochondrial FAS II pathway: new insights into its substrate recognition properties.",
"journal": "Journal of molecular biology",
"date": "2008",
"authors": "Chen ZJ, Pudas R, Sharma S, Smart OS, Juffer AH, Hiltunen JK, Wierenga RK, Haapalainen AM",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-77346",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77346"
}
],
"reference": [
{
"type": "PubMed",
"id": "18479707",
"url": "https://glygen.org/publication/PubMed/18479707"
}
]
},
{
"title": "The aryl hydrocarbon receptor complex and the control of gene expression.",
"journal": "Critical reviews in eukaryotic gene expression",
"date": "2008",
"authors": "Beischlag TV, Luis Morales J, Hollingshead BD, Perdew GH",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-1989781",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781"
}
],
"reference": [
{
"type": "PubMed",
"id": "18540824",
"url": "https://glygen.org/publication/PubMed/18540824"
}
]
},
{
"title": "Differential regulation of human ALAS1 mRNA and protein levels by heme and cobalt protoporphyrin.",
"journal": "Molecular and cellular biochemistry",
"date": "2008",
"authors": "Zheng J, Shan Y, Lambrecht RW, Donohue SE, Bonkovsky HL",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-1989781",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781"
}
],
"reference": [
{
"type": "PubMed",
"id": "18719978",
"url": "https://glygen.org/publication/PubMed/18719978"
}
]
},
{
"title": "Regulation of constitutive and inducible AHR signaling: complex interactions involving the AHR repressor.",
"journal": "Biochemical pharmacology",
"date": "2009",
"authors": "Hahn ME, Allan LL, Sherr DH",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-1989781",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781"
}
],
"reference": [
{
"type": "PubMed",
"id": "18848529",
"url": "https://glygen.org/publication/PubMed/18848529"
}
]
},
{
"title": "Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli.",
"journal": "Human genetics",
"date": "1991",
"authors": "Gregersen N, Andresen BS, Bross P, Winter V, Rudiger N, Engst S, Christensen E, Kelly D, Strauss AW, Kolvraa S, et al.",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"reference": [
{
"type": "PubMed",
"id": "1902818",
"url": "https://glygen.org/publication/PubMed/1902818"
}
]
},
{
"title": "Transcriptional regulation of HMG-CoA synthase and HMG-CoA reductase genes by human ACBP.",
"journal": "Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology",
"date": "2008",
"authors": "Vock C, Doring F, Nitz I",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-1989781",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781"
}
],
"reference": [
{
"type": "PubMed",
"id": "19088433",
"url": "https://glygen.org/publication/PubMed/19088433"
}
]
},
{
"title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.",
"journal": "Science (New York, N.Y.)",
"date": "2009",
"authors": "Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"reference": [
{
"type": "PubMed",
"id": "19608861",
"url": "https://glygen.org/publication/PubMed/19608861"
}
]
},
{
"title": "Characterization of wild-type and an active site mutant of human medium chain acyl-CoA dehydrogenase after expression in Escherichia coli.",
"journal": "The Journal of biological chemistry",
"date": "1990",
"authors": "Bross P, Engst S, Strauss AW, Kelly DP, Rasched I, Ghisla S",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"reference": [
{
"type": "PubMed",
"id": "1970566",
"url": "https://glygen.org/publication/PubMed/1970566"
}
]
},
{
"title": "Comparative analysis of gene regulation by the transcription factor PPARalpha between mouse and human.",
"journal": "PloS one",
"date": "2009",
"authors": "Rakhshandehroo M, Hooiveld G, Muller M, Kersten S",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-1989781",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781"
}
],
"reference": [
{
"type": "PubMed",
"id": "19710929",
"url": "https://glygen.org/publication/PubMed/19710929"
}
]
},
{
"title": "Activating peroxisome proliferator-activated receptor gamma mutant promotes tumor growth in vivo by enhancing angiogenesis.",
"journal": "Cancer research",
"date": "2009",
"authors": "Tian L, Zhou J, Casimiro MC, Liang B, Ojeifo JO, Wang M, Hyslop T, Wang C, Pestell RG",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-1989781",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781"
}
],
"reference": [
{
"type": "PubMed",
"id": "19934321",
"url": "https://glygen.org/publication/PubMed/19934321"
}
]
},
{
"title": "Profiling of promoter occupancy by PPARalpha in human hepatoma cells via ChIP-chip analysis.",
"journal": "Nucleic acids research",
"date": "2010",
"authors": "van der Meer DL, Degenhardt T, Vaisanen S, de Groot PJ, Heinaniemi M, de Vries SC, Muller M, Carlberg C, Kersten S",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-1989781",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781"
}
],
"reference": [
{
"type": "PubMed",
"id": "20110263",
"url": "https://glygen.org/publication/PubMed/20110263"
}
]
},
{
"title": "Identification and characterization of new long chain acyl-CoA dehydrogenases.",
"journal": "Molecular genetics and metabolism",
"date": "2011",
"authors": "He M, Pei Z, Mohsen AW, Watkins P, Murdoch G, Van Veldhoven PP, Ensenauer R, Vockley J",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"reference": [
{
"type": "PubMed",
"id": "21237683",
"url": "https://glygen.org/publication/PubMed/21237683"
}
]
},
{
"title": "Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency.",
"journal": "Proceedings of the National Academy of Sciences of the United States of America",
"date": "1990",
"authors": "Kelly DP, Whelan AJ, Ogden ML, Alpers R, Zhang ZF, Bellus G, Gregersen N, Dorland L, Strauss AW",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"reference": [
{
"type": "PubMed",
"id": "2251268",
"url": "https://glygen.org/publication/PubMed/2251268"
}
]
},
{
"title": "Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.",
"journal": "Biochemical and biophysical research communications",
"date": "1990",
"authors": "Matsubara Y, Narisawa K, Miyabayashi S, Tada K, Coates PM, Bachmann C, Elsas LJ 2nd, Pollitt RJ, Rhead WJ, Roe CR",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"reference": [
{
"type": "PubMed",
"id": "2393404",
"url": "https://glygen.org/publication/PubMed/2393404"
}
]
},
{
"title": "Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation.",
"journal": "The Journal of clinical investigation",
"date": "1990",
"authors": "Yokota I, Indo Y, Coates PM, Tanaka K",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"reference": [
{
"type": "PubMed",
"id": "2394825",
"url": "https://glygen.org/publication/PubMed/2394825"
}
]
},
{
"title": "Sirtuin 3 (SIRT3) protein regulates long-chain acyl-CoA dehydrogenase by deacetylating conserved lysines near the active site.",
"journal": "The Journal of biological chemistry",
"date": "2013",
"authors": "Bharathi SS, Zhang Y, Mohsen AW, Uppala R, Balasubramani M, Schreiber E, Uechi G, Beck ME, Rardin MJ, Vockley J, Verdin E, Gibson BW, Hirschey MD, Goetzman ES",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"reference": [
{
"type": "PubMed",
"id": "24121500",
"url": "https://glygen.org/publication/PubMed/24121500"
}
]
},
{
"title": "Nuclear receptor-mediated cell-autonomous oscillatory expression of the circadian transcription factor, neuronal PAS domain protein 2 (NPAS2).",
"journal": "The Journal of biological chemistry",
"date": "2013",
"authors": "Matsumura R, Matsubara C, Node K, Takumi T, Akashi M",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-1989781",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781"
}
],
"reference": [
{
"type": "PubMed",
"id": "24196956",
"url": "https://glygen.org/publication/PubMed/24196956"
}
]
},
{
"title": "Human METTL20 is a mitochondrial lysine methyltransferase that targets the beta subunit of electron transfer flavoprotein (ETFbeta) and modulates its activity.",
"journal": "The Journal of biological chemistry",
"date": "2015",
"authors": "Malecki J, Ho AY, Moen A, Dahl HA, Falnes PO",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"reference": [
{
"type": "PubMed",
"id": "25416781",
"url": "https://glygen.org/publication/PubMed/25416781"
}
]
},
{
"title": "Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.",
"journal": "Cell",
"date": "2016",
"authors": "Yang Xinping, Coulombe-Huntington Jasmin, Kang Shuli, Sheynkman Gloria M, Hao Tong, Richardson Aaron, Sun Song, Yang Fan, Shen Yun A, Murray Ryan R, Spirohn Kerstin, Begg Bridget E, Duran-Frigola Miquel, MacWilliams Andrew, Pevzner Samuel J, Zhong Quan, Trigg Shelly A, Tam Stanley, Ghamsari Lila, Sahni Nidhi, Yi Song, Rodriguez Maria D, Balcha Dawit, Tan Guihong, Costanzo Michael, Andrews Brenda, Boone Charles, Zhou Xianghong J, Salehi-Ashtiani Kourosh, Charloteaux Benoit, Chen Alyce A, Calderwood Michael A, Aloy Patrick, Roth Frederick P, Hill David E, Iakoucheva Lilia M, Xia Yu, Vidal Marc",
"evidence": [
{
"database": "UniProtKB",
"id": "E9PIX8",
"url": "https://www.uniprot.org/uniprot/E9PIX8"
}
],
"reference": [
{
"type": "PubMed",
"id": "26871637",
"url": "https://glygen.org/publication/PubMed/26871637"
}
]
},
{
"title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.",
"journal": "Analytical chemistry",
"date": "2017",
"authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X",
"evidence": [
{
"database": "O-GlcNAc Database",
"id": "P11310",
"url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11310"
}
],
"reference": [
{
"type": "PubMed",
"id": "28510447",
"url": "https://glygen.org/publication/PubMed/28510447"
}
]
},
{
"title": "Nucleotide sequence of medium-chain acyl-CoA dehydrogenase mRNA and its expression in enzyme-deficient human tissue.",
"journal": "Proc. Natl. Acad. Sci. U.S.A.",
"date": "1987",
"authors": "Kelly DP, Kim JJ, Billadello JJ, Hainline BE, Chu TW, Strauss AW",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"reference": [
{
"type": "PubMed",
"id": "3035565",
"url": "https://glygen.org/publication/PubMed/3035565"
}
]
},
{
"title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.",
"journal": "ACS chemical biology",
"date": "2020",
"authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM",
"evidence": [
{
"database": "O-GlcNAc Database",
"id": "P11310",
"url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11310"
}
],
"reference": [
{
"type": "PubMed",
"id": "32119511",
"url": "https://glygen.org/publication/PubMed/32119511"
}
]
},
{
"title": "A new tandem enrichment strategy for the simultaneous profiling of O-GlcNAcylation and phosphorylation in RNA-binding proteome.",
"journal": "The Analyst",
"date": "2021",
"authors": "Fan Z, Li J, Liu T, Zhang Z, Qin W, Qian X",
"evidence": [
{
"database": "O-GlcNAc Database",
"id": "P11310",
"url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11310"
},
{
"database": "O-GlcNAc Atlas",
"id": "P11310",
"url": "https://oglcnac.org/atlas/detail/P11310"
}
],
"reference": [
{
"type": "PubMed",
"id": "33465208",
"url": "https://glygen.org/publication/PubMed/33465208"
}
]
},
{
"title": "Synthesis of Na2S2O4 mediated cleavable affinity tag for labeling of O-GlcNAc modified proteins via azide-alkyne cycloaddition.",
"journal": "Bioorganic & medicinal chemistry letters",
"date": "2021",
"authors": "Wang J, Dou B, Zheng L, Cao W, Zeng X, Wen Y, Ma J, Li X",
"evidence": [
{
"database": "O-GlcNAc Database",
"id": "P11310",
"url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11310"
}
],
"reference": [
{
"type": "PubMed",
"id": "34229054",
"url": "https://glygen.org/publication/PubMed/34229054"
}
]
},
{
"title": "Comparative O-GlcNAc Proteomic Analysis Reveals a Role of O-GlcNAcylated SAM68 in Lung Cancer Aggressiveness.",
"journal": "Cancers",
"date": "2022",
"authors": "Lin CH, Liao CC, Wang SY, Peng CY, Yeh YC, Chen MY, Chou TY",
"evidence": [
{
"database": "O-GlcNAc Database",
"id": "P11310",
"url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11310"
}
],
"reference": [
{
"type": "PubMed",
"id": "35008409",
"url": "https://glygen.org/publication/PubMed/35008409"
}
]
},
{
"title": "Purification and properties of short chain acyl-CoA, medium chain acyl-CoA, and isovaleryl-CoA dehydrogenases from human liver.",
"journal": "The Journal of biological chemistry",
"date": "1987",
"authors": "Finocchiaro G, Ito M, Tanaka K",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-77348",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77348"
}
],
"reference": [
{
"type": "PubMed",
"id": "3597357",
"url": "https://glygen.org/publication/PubMed/3597357"
}
]
},
{
"title": "Role of PPAR-related genes in chronic heart failure: evidence from large populations.",
"journal": "BMC cardiovascular disorders",
"date": "2023-11-10",
"authors": "Ke Zun-Ping, Tao Wen-Qi, Zhao Gang, Cheng Kuan",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000007",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000007"
}
],
"reference": [
{
"type": "PubMed",
"id": "37950149",
"url": "https://glygen.org/publication/PubMed/37950149"
}
]
},
{
"title": "Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies.",
"journal": "Pediatric research",
"date": "1995",
"authors": "Ziadeh R, Hoffman EP, Finegold DN, Hoop RC, Brackett JC, Strauss AW, Naylor EW",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"reference": [
{
"type": "PubMed",
"id": "7603790",
"url": "https://glygen.org/publication/PubMed/7603790"
}
]
},
{
"title": "Transcriptional regulation by lovastatin and 25-hydroxycholesterol in HepG2 cells and molecular cloning and expression of the cDNA for the human hepatic squalene synthase.",
"journal": "The Journal of biological chemistry",
"date": "1993",
"authors": "Jiang G, McKenzie TL, Conrad DG, Shechter I",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-1989781",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781"
}
],
"reference": [
{
"type": "PubMed",
"id": "7685352",
"url": "https://glygen.org/publication/PubMed/7685352"
}
]
},
{
"title": "Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene.",
"journal": "Proceedings of the National Academy of Sciences of the United States of America",
"date": "1995",
"authors": "Britton CH, Schultz RA, Zhang B, Esser V, Foster DW, McGarry JD",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-1989781",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781"
}
],
"reference": [
{
"type": "PubMed",
"id": "7892212",
"url": "https://glygen.org/publication/PubMed/7892212"
}
]
},
{
"title": "A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death.",
"journal": "The Journal of clinical investigation",
"date": "1994",
"authors": "Brackett JC, Sims HF, Steiner RD, Nunge M, Zimmerman EM, deMartinville B, Rinaldo P, Slaugh R, Strauss AW",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"reference": [
{
"type": "PubMed",
"id": "7929823",
"url": "https://glygen.org/publication/PubMed/7929823"
}
]
},
{
"title": "Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene.",
"journal": "American journal of human genetics",
"date": "1994",
"authors": "Andresen BS, Jensen TG, Bross P, Knudsen I, Winter V, Kolvraa S, Bolund L, Ding JH, Chen YT, Van Hove JL, et al.",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"reference": [
{
"type": "PubMed",
"id": "8198141",
"url": "https://glygen.org/publication/PubMed/8198141"
}
]
},
{
"title": "A direct role for sterol regulatory element binding protein in activation of 3-hydroxy-3-methylglutaryl coenzyme A reductase gene.",
"journal": "The Journal of biological chemistry",
"date": "1996",
"authors": "Vallett SM, Sanchez HB, Rosenfeld JM, Osborne TF",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-1989781",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781"
}
],
"reference": [
{
"type": "PubMed",
"id": "8647822",
"url": "https://glygen.org/publication/PubMed/8647822"
}
]
},
{
"title": "Human short-chain L-3-hydroxyacyl-CoA dehydrogenase: cloning and characterization of the coding sequence.",
"journal": "Biochemical and biophysical research communications",
"date": "1996",
"authors": "Vredendaal PJ, van den Berg IE, Malingre HE, Stroobants AK, Olde Weghuis DE, Berger R",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-77348",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77348"
}
],
"reference": [
{
"type": "PubMed",
"id": "8687463",
"url": "https://glygen.org/publication/PubMed/8687463"
}
]
},
{
"title": "Medium-long-chain chimeric human Acyl-CoA dehydrogenase: medium-chain enzyme with the active center base arrangement of long-chain Acyl-CoA dehydrogenase.",
"journal": "Biochemistry",
"date": "1996",
"authors": "Nandy A, Kieweg V, Krautle FG, Vock P, Kuchler B, Bross P, Kim JJ, Rasched I, Ghisla S",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"reference": [
{
"type": "PubMed",
"id": "8823175",
"url": "https://glygen.org/publication/PubMed/8823175"
}
]
},
{
"title": "Crystal structures of the wild type and the Glu376Gly/Thr255Glu mutant of human medium-chain acyl-CoA dehydrogenase: influence of the location of the catalytic base on substrate specificity.",
"journal": "Biochemistry",
"date": "1996",
"authors": "Lee HJ, Wang M, Paschke R, Nandy A, Ghisla S, Kim JJ",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"reference": [
{
"type": "PubMed",
"id": "8823176",
"url": "https://glygen.org/publication/PubMed/8823176"
}
]
},
{
"title": "Molecular characterization of two mammalian bHLH-PAS domain proteins selectively expressed in the central nervous system.",
"journal": "Proceedings of the National Academy of Sciences of the United States of America",
"date": "1997",
"authors": "Zhou YD, Barnard M, Tian H, Li X, Ring HZ, Francke U, Shelton J, Richardson J, Russell DW, McKnight SL",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-1989781",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781"
}
],
"reference": [
{
"type": "PubMed",
"id": "9012850",
"url": "https://glygen.org/publication/PubMed/9012850"
}
]
},
{
"title": "The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?",
"journal": "Human molecular genetics",
"date": "1997",
"authors": "Andresen BS, Bross P, Udvari S, Kirk J, Gray G, Kmoch S, Chamoles N, Knudsen I, Winter V, Wilcken B, Yokota I, Hart K, Packman S, Harpey JP, Saudubray JM, Hale DE, Bolund L, Kolvraa S, Gregersen N",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"reference": [
{
"type": "PubMed",
"id": "9158144",
"url": "https://glygen.org/publication/PubMed/9158144"
}
]
},
{
"title": "The nuclear receptors peroxisome proliferator-activated receptor alpha and Rev-erbalpha mediate the species-specific regulation of apolipoprotein A-I expression by fibrates.",
"journal": "The Journal of biological chemistry",
"date": "1998",
"authors": "Vu-Dac N, Chopin-Delannoy S, Gervois P, Bonnelye E, Martin G, Fruchart JC, Laudet V, Staels B",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-1989781",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781"
}
],
"reference": [
{
"type": "PubMed",
"id": "9748239",
"url": "https://glygen.org/publication/PubMed/9748239"
}
]
},
{
"title": "Biochemical characterization of a variant human medium-chain acyl-CoA dehydrogenase with a disease-associated mutation localized in the active site.",
"journal": "The Biochemical journal",
"date": "1999",
"authors": "Kuchler B, Abdel-Ghany AG, Bross P, Nandy A, Rasched I, Ghisla S",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"reference": [
{
"type": "PubMed",
"id": "9882619",
"url": "https://glygen.org/publication/PubMed/9882619"
}
]
}
],
"pathway": [
{
"id": "hsa:34",
"name": "",
"url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:34",
"resource": "KEGG Pathway"
},
{
"id": "R-HSA-1989781",
"name": "PPARA activates gene expression",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781",
"resource": "Reactome",
"description": "PPARA activates gene expression"
},
{
"id": "R-HSA-77288",
"name": "mitochondrial fatty acid beta-oxidation of unsaturated fatty acids",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77288",
"resource": "Reactome",
"description": "mitochondrial fatty acid beta-oxidation of unsaturated fatty acids"
},
{
"id": "R-HSA-77346",
"name": "Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77346",
"resource": "Reactome",
"description": "Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA"
},
{
"id": "R-HSA-77348",
"name": "Beta oxidation of octanoyl-CoA to hexanoyl-CoA",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77348",
"resource": "Reactome",
"description": "Beta oxidation of octanoyl-CoA to hexanoyl-CoA"
}
],
"orthologs": [
{
"uniprot_canonical_ac": "P08503-1",
"protein_name": "Medium-chain specific acyl-CoA dehydrogenase, mitochondrial",
"gene_name": "Acadm",
"tax_id": 10116,
"organism": "Rattus norvegicus",
"sequence": {
"sequence": "MAAALRRGYKVLRSVSHFECRAQHTKPSLKQEPGLGFSFELTEQQKEFQTIARKFAREEIIPVAPDYDKSGEYPFPLIKRAWELGLINTHIPESCGGLGLGTFDACLITEELAYGCTGVQTAIEANSLGQMPVIIAGNDQQKKKYLGRMTEQPMMCAYCVTEPSAGSDVAGIKTKAEKKGDEYVINGQKMWITNGGKANWYFVLTRSNPDPKVPASKAFTGFIVEADTPGIHIGKKELNMGQRCSDTRGITFEDVRVPKENVLIGEGAGFKIAMGAFDRTRPTVAAGAVGLAQRALDEATKYALDRKTFGKLLVEHQGVSFLLAEMAMKVELARLSYQRAAWEVDSGRRNTYFASIAKAFAGDIANQLATDAVQIFGGYGFNTEYPVEKLMRDAKIYQIYEGTAQIQRLIIAREHIEKYKN",
"length": 421
},
"evidence": [
{
"id": "45924880",
"url": "http://www.informatics.jax.org/homology/45924880",
"database": "MGI"
}
],
"common_name": "Rat"
},
{
"uniprot_canonical_ac": "P41367-1",
"protein_name": "Medium-chain specific acyl-CoA dehydrogenase, mitochondrial",
"gene_name": "ACADM",
"tax_id": 9823,
"organism": "Sus scrofa",
"sequence": {
"sequence": "MAAMFRRSCRVLRSLSHFGWRSQHTKAVPQCEPGSGFSFELTEQQKEFQATARKFAREEIIPVAAEYDRTGEYPVPLLKRAWELGLMNTHIPESFGGLGLGIIDSCLITEELAYGCTGVQTAIEANTLGQVPLIIGGNYQQQKKYLGRMTEEPLMCAYCVTEPGAGSDVAGIKTKAEKKGDEYIINGQKMWITNGGKANWYFLLARSDPDPKAPASKAFTGFIVEADTPGVQIGRKEINMGQRCSDTRGIVFEDVRVPKENVLTGEGAGFKIAMGTFDKTRPPVAAGAVGLAQRALDEATKYALERKTFGKLLAEHQGISFLLADMAMKVELARLSYQRAAWEIDSGRRNTYYASIAKAYAADIANQLATDAVQVFGGNGFNTEYPVEKLMRDAKIYQIYEGTAQIQRIIIAREHIGRYKN",
"length": 421
},
"evidence": [
{
"id": "P11310",
"url": "https://omabrowser.org/oma/group/P11310/",
"database": "OMA"
}
],
"common_name": "Pig"
},
{
"uniprot_canonical_ac": "P45952-1",
"protein_name": "Medium-chain specific acyl-CoA dehydrogenase, mitochondrial",
"gene_name": "Acadm",
"tax_id": 10090,
"organism": "Mus musculus",
"sequence": {
"sequence": "MAAAFRRGCRVLRSVSHFECRTQHSKAAHKQEPGLGFSFELTEQQKEFQATARKFAREEIIPVAPEYDKSGEYPFPLIKRAWELGLINAHIPESCGGLGLGTFDACLITEELAYGCTGVQTAIEANSLGQMPVILAGNDQQKKKYLGRMTEQPMMCAYCVTEPSAGSDVAAIKTKAEKKGDEYVINGQKMWITNGGKANWYFLLARSNPDPKVPASKAFTGFIVEADTPGIHIGKKELNMGQRCSDTRGIAFEDVRVPKENVLIGEGAGFKIAMGAFDRTRPTVAAGAVGLAQRALDEATKYALDRKTFGKLLVEHQGVSFLLAEMAMKVELARLSYQRAAWEVDSGRRNTYYASIAKAFAGDIANQLATDAVQIFGGYGFNTEYPVEKLMRDAKIYQIYEGTAQIQRLIIAREHIEKYKN",
"length": 421
},
"evidence": [
{
"id": "45924880",
"url": "http://www.informatics.jax.org/homology/45924880",
"database": "MGI"
},
{
"id": "P11310",
"url": "https://omabrowser.org/oma/group/P11310/",
"database": "OMA"
}
],
"common_name": "Mouse"
},
{
"uniprot_canonical_ac": "Q9VSA3-1",
"protein_name": "Medium-chain specific acyl-CoA dehydrogenase, mitochondrial",
"gene_name": "Mcad",
"tax_id": 7227,
"organism": "Drosophila melanogaster",
"sequence": {
"sequence": "MAFLNKLAAPALRQLVSQSRAYAAVSHVSPNGTSFALTEDQLQLQELARKFTREEIIPVAAQYDKSGEYPWPIIKKAWELGLMNNHIPADIGGLDLDVFTTCLSAEELAYGCTGIMTALEASGLGQTPVILSGNKEQKKKYLGRLLEEPLVAAYCVTEPGAGSDVSGIKTRAEKKGDEWVINGQKMWITNGGVANWYFVLARTNPDPKCPPSKAFTGFIVERDSPGLTPGRKELNMGQRASDTRGITFEDVRVPKENVLIGEGAGFKIAMGTFDKTRPPVAAGAVGLAQRCLDEALKYALERKTFGVPIAYHQAVQFMLADMAIGVETSRLAWRLSAWEIDQGRRNSYYASIAKCHAADMANKIASDAVQIFGGNGFNSEYPVEKLMRDAKIYQIYEGTSQIQRLIISRNMYEAAKGQA",
"length": 419
},
"evidence": [
{
"id": "P11310",
"url": "https://omabrowser.org/oma/group/P11310/",
"database": "OMA"
}
],
"common_name": "Fruit fly"
}
],
"go_annotation": {
"categories": [
{
"name": "Molecular Function",
"total": 5,
"go_terms": [
{
"name": "acyl-CoA dehydrogenase activity",
"id": "GO:0003995",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003995",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"pmid": ""
},
{
"name": "flavin adenine dinucleotide binding",
"id": "GO:0050660",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"pmid": ""
},
{
"name": "oxidoreductase activity, acting on the CH-CH group of donors",
"id": "GO:0016627",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016627",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"pmid": ""
},
{
"name": "identical protein binding",
"id": "GO:0042802",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"pmid": ""
},
{
"name": "medium-chain-acyl-CoA dehydrogenase activity",
"id": "GO:0070991",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070991",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"pmid": ""
}
]
},
{
"name": "Cellular Component",
"total": 6,
"go_terms": [
{
"name": "mitochondrion",
"id": "GO:0005739",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"pmid": ""
},
{
"name": "nucleus",
"id": "GO:0005634",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"pmid": ""
},
{
"name": "cytoplasm",
"id": "GO:0005737",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"pmid": ""
},
{
"name": "mitochondrial matrix",
"id": "GO:0005759",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"pmid": ""
},
{
"name": "axon",
"id": "GO:0030424",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"pmid": ""
},
{
"name": "mitochondrial membrane",
"id": "GO:0031966",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"pmid": ""
}
]
},
{
"name": "Biological Process",
"total": 13,
"go_terms": [
{
"name": "liver development",
"id": "GO:0001889",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"pmid": ""
},
{
"name": "fatty acid beta-oxidation",
"id": "GO:0006635",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006635",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"pmid": ""
},
{
"name": "response to cold",
"id": "GO:0009409",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009409",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"pmid": ""
},
{
"name": "fatty acid beta-oxidation using acyl-CoA dehydrogenase",
"id": "GO:0033539",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033539",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"pmid": ""
},
{
"name": "response to starvation",
"id": "GO:0042594",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042594",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"pmid": ""
},
{
"name": "medium-chain fatty acid metabolic process",
"id": "GO:0051791",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051791",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"pmid": ""
},
{
"name": "post-embryonic development",
"id": "GO:0009791",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"pmid": ""
},
{
"name": "carnitine metabolic process, CoA-linked",
"id": "GO:0019254",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019254",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"pmid": ""
},
{
"name": "carnitine biosynthetic process",
"id": "GO:0045329",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045329",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"pmid": ""
},
{
"name": "medium-chain fatty acid catabolic process",
"id": "GO:0051793",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051793",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"pmid": ""
},
{
"name": "glycogen biosynthetic process",
"id": "GO:0005978",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005978",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"pmid": ""
},
{
"name": "cardiac muscle cell differentiation",
"id": "GO:0055007",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055007",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"pmid": ""
},
{
"name": "regulation of gluconeogenesis",
"id": "GO:0006111",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006111",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
}
],
"pmid": ""
}
]
}
]
},
"pro_annotation": [],
"site_annotation": [],
"ptm_annotation": [
{
"annotation": "Acetylated. Could occur at proximity of the cofactor-binding sites and reduce the catalytic activity. Could be deacetylated by SIRT3.",
"evidence": [
{
"database": "UniProtKB",
"id": "P11310",
"url": "https://www.uniprot.org/uniprot/P11310"
},
{
"database": "PubMed",
"id": "24121500",
"url": "https://glygen.org/publication/PubMed/24121500"
}
]
}
],
"interactions": [],
"reactions": [
{
"id": "14477",
"name": "",
"equation": "a medium-chain 2,3-saturated fatty acyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = a medium-chain (2E)-enoyl-CoA + reduced [electron-transfer flavoprotein]",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P08503-1",
"P11310-1",
"P45952-1",
"Q9VSA3-1"
],
"evidence": [
{
"id": "14477",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/14477"
}
]
},
{
"id": "43448",
"name": "",
"equation": "H(+) + hexadecanoyl-CoA + oxidized [electron-transfer flavoprotein] = (2E)-hexadecenoyl-CoA + reduced [electron-transfer flavoprotein]",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P15650-1",
"B1WC61-1",
"P45953-1",
"P08503-1",
"Q9H845-1",
"P28330-1",
"P11310-1",
"P49748-1",
"Q8JZN5-1",
"P51174-1",
"P50544-1",
"P45952-1",
"A1ZBJ2-1"
],
"evidence": [
{
"id": "43448",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/43448"
}
]
},
{
"id": "43456",
"name": "",
"equation": "H(+) + oxidized [electron-transfer flavoprotein] + pentanoyl-CoA = (2E)-pentenoyl-CoA + reduced [electron-transfer flavoprotein]",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P15651-1",
"P08503-1",
"P12007-1",
"P16219-1",
"P11310-1",
"P26440-1",
"Q07417-1",
"Q9JHI5-1",
"P45952-1",
"Q9VSL9-1"
],
"evidence": [
{
"id": "43456",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/43456"
}
]
},
{
"id": "43464",
"name": "",
"equation": "H(+) + hexanoyl-CoA + oxidized [electron-transfer flavoprotein] = (2E)-hexenoyl-CoA + reduced [electron-transfer flavoprotein]",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P15650-1",
"P15651-1",
"P70584-1",
"P08503-1",
"P12007-1",
"P16219-1",
"P28330-1",
"P11310-1",
"P45954-1",
"P26440-1",
"P51174-1",
"Q07417-1",
"Q9DBL1-1",
"Q9JHI5-1",
"P45952-1",
"Q9VSL9-1",
"Q9VVU1-1"
],
"evidence": [
{
"id": "43464",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/43464"
}
]
},
{
"id": "47296",
"name": "",
"equation": "dodecanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E)-dodecenoyl-CoA + reduced [electron-transfer flavoprotein]",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P15650-1",
"P45953-1",
"P08503-1",
"P28330-1",
"P11310-1",
"P49748-1",
"P51174-1",
"P50544-1",
"P45952-1",
"A1ZBJ2-1"
],
"evidence": [
{
"id": "47296",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/47296"
}
]
},
{
"id": "47316",
"name": "",
"equation": "H(+) + oxidized [electron-transfer flavoprotein] + tetradecanoyl-CoA = (2E)-tetradecenoyl-CoA + reduced [electron-transfer flavoprotein]",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P15650-1",
"B1WC61-1",
"P45953-1",
"P08503-1",
"Q9H845-1",
"P28330-1",
"P11310-1",
"P49748-1",
"Q8JZN5-1",
"P51174-1",
"P50544-1",
"P45952-1",
"A1ZBJ2-1"
],
"evidence": [
{
"id": "47316",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/47316"
}
]
},
{
"id": "48176",
"name": "",
"equation": "decanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E)-decenoyl-CoA + reduced [electron-transfer flavoprotein]",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P15650-1",
"B1WC61-1",
"P08503-1",
"Q9H845-1",
"P28330-1",
"P11310-1",
"P49748-1",
"Q8JZN5-1",
"P51174-1",
"P45952-1"
],
"evidence": [
{
"id": "48176",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/48176"
}
]
},
{
"id": "48180",
"name": "",
"equation": "H(+) + octanoyl-CoA + oxidized [electron-transfer flavoprotein] = (2E)-octenoyl-CoA + reduced [electron-transfer flavoprotein]",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P15650-1",
"P08503-1",
"P28330-1",
"P11310-1",
"P51174-1",
"P45952-1"
],
"evidence": [
{
"id": "48180",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/48180"
}
]
},
{
"id": "R-HSA-109341",
"name": "dehydrogenation of 4-cis-decenoyl-CoA to form 2-trans-4-cis-decadienoyl-CoA",
"equation": "",
"summary": "4-cis-decenoyl-CoA transits through the first step of the saturated beta-oxidation spiral to yield 2-trans-4-cis-decadienoyl-CoA.",
"cellular_location": "mitochondrial matrix",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P11310-1"
],
"evidence": [
{
"id": "R-HSA-109341",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-109341"
}
]
},
{
"id": "R-HSA-1989745",
"name": "Expression of ACADM",
"equation": "",
"summary": "The ACADM gene is transcribed to yield mRNA and the mRNA is translated to yield protein.",
"cellular_location": "mitochondrial matrix, nucleoplasm",
"input_participant_list": [
"R-HSA-5649946"
],
"output_participant_list": [
"R-HSA-49491"
],
"enzyme_list": [
"Q15788-1",
"P11310-1",
"Q92793-1",
"Q96RS0-1",
"Q86X55-3",
"Q3L8U1-1",
"Q9BYK8-1"
],
"evidence": [
{
"id": "R-HSA-1989745",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989745"
}
]
},
{
"id": "R-HSA-77338",
"name": "Octanoyl-CoA+FAD<=>trans-Oct-2-enoyl-CoA+FADH2",
"equation": "",
"summary": "At the beginning of this reaction, 1 molecule of 'Octanoyl-CoA', and 1 molecule of 'FAD' are present. At the end of this reaction, 1 molecule of 'FADH2', and 1 molecule of 'trans-Oct-2-enoyl-CoA' are present.
This reaction takes place in the 'mitochondrial matrix' and is mediated by the 'acyl-CoA dehydrogenase activity' of 'MCAD acyl-CoA dehydrogenase homotetramer'.
",
"cellular_location": "mitochondrial matrix",
"input_participant_list": [
"R-ALL-77337"
],
"output_participant_list": [
"R-ALL-77332"
],
"enzyme_list": [
"P11310-1"
],
"evidence": [
{
"id": "R-HSA-77338",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77338"
}
]
},
{
"id": "R-HSA-77345",
"name": "Decanoyl-CoA+FAD<=>trans-Dec-2-enoyl-CoA+FADH2",
"equation": "",
"summary": "At the beginning of this reaction, 1 molecule of 'Decanoyl-CoA', and 1 molecule of 'FAD' are present. At the end of this reaction, 1 molecule of 'trans-Dec-2-enoyl-CoA', and 1 molecule of 'FADH2' are present.
This reaction takes place in the 'mitochondrial matrix' and is mediated by the 'acyl-CoA dehydrogenase activity' of 'MCAD acyl-CoA dehydrogenase homotetramer'.
",
"cellular_location": "mitochondrial matrix",
"input_participant_list": [
"R-ALL-77308"
],
"output_participant_list": [],
"enzyme_list": [
"P11310-1"
],
"evidence": [
{
"id": "R-HSA-77345",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77345"
}
]
}
],
"reaction_participants": [
{
"participant_id": "R-ALL-77308",
"participant_name": "DEC-CoA [mitochondrial matrix]",
"crossref": [
{
"id": "C05274",
"database": "COMPOUND",
"url": ""
},
{
"id": "28493",
"database": "ChEBI",
"url": ""
},
{
"id": "000096014554",
"database": "ZINC",
"url": ""
},
{
"id": "HMDB0304325",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "HMDB0006404",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "8144337",
"database": "PubChem Substance",
"url": ""
},
{
"id": "C05274",
"database": "COMPOUND",
"url": ""
},
{
"id": "28493",
"database": "ChEBI",
"url": ""
},
{
"id": "000096014554",
"database": "ZINC",
"url": ""
},
{
"id": "HMDB0304325",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "HMDB0006404",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "8144337",
"database": "PubChem Substance",
"url": ""
},
{
"id": "C05274",
"database": "COMPOUND",
"url": ""
},
{
"id": "28493",
"database": "ChEBI",
"url": ""
},
{
"id": "000096014554",
"database": "ZINC",
"url": ""
},
{
"id": "HMDB0304325",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "HMDB0006404",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "8144337",
"database": "PubChem Substance",
"url": ""
},
{
"id": "C05274",
"database": "COMPOUND",
"url": ""
},
{
"id": "28493",
"database": "ChEBI",
"url": ""
},
{
"id": "000096014554",
"database": "ZINC",
"url": ""
},
{
"id": "HMDB0304325",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "HMDB0006404",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "8144337",
"database": "PubChem Substance",
"url": ""
},
{
"id": "C05274",
"database": "COMPOUND",
"url": ""
},
{
"id": "28493",
"database": "ChEBI",
"url": ""
},
{
"id": "000096014554",
"database": "ZINC",
"url": ""
},
{
"id": "HMDB0304325",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "HMDB0006404",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "8144337",
"database": "PubChem Substance",
"url": ""
},
{
"id": "HMDB0304325",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "8144337",
"database": "PubChem Substance",
"url": ""
},
{
"id": "28493",
"database": "ChEBI",
"url": ""
},
{
"id": "C05274",
"database": "COMPOUND",
"url": ""
},
{
"id": "HMDB0006404",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "000096014554",
"database": "ZINC",
"url": ""
},
{
"id": "C05274",
"database": "COMPOUND",
"url": ""
},
{
"id": "28493",
"database": "ChEBI",
"url": ""
},
{
"id": "000096014554",
"database": "ZINC",
"url": ""
},
{
"id": "HMDB0304325",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "HMDB0006404",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "8144337",
"database": "PubChem Substance",
"url": ""
}
]
},
{
"participant_id": "R-ALL-77332",
"participant_name": "trans-Oct-2-enoyl-CoA [mitochondrial matrix]",
"crossref": [
{
"id": "8144495",
"database": "PubChem Substance",
"url": ""
},
{
"id": "HMDB0003949",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "C05276",
"database": "COMPOUND",
"url": ""
},
{
"id": "HMDB0003950",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "000096014547",
"database": "ZINC",
"url": ""
},
{
"id": "27537",
"database": "ChEBI",
"url": ""
},
{
"id": "8144495",
"database": "PubChem Substance",
"url": ""
},
{
"id": "HMDB0003949",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "C05276",
"database": "COMPOUND",
"url": ""
},
{
"id": "HMDB0003950",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "000096014547",
"database": "ZINC",
"url": ""
},
{
"id": "27537",
"database": "ChEBI",
"url": ""
},
{
"id": "HMDB0003950",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "27537",
"database": "ChEBI",
"url": ""
},
{
"id": "000096014547",
"database": "ZINC",
"url": ""
},
{
"id": "C05276",
"database": "COMPOUND",
"url": ""
},
{
"id": "HMDB0003949",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "8144495",
"database": "PubChem Substance",
"url": ""
},
{
"id": "HMDB0003950",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "27537",
"database": "ChEBI",
"url": ""
},
{
"id": "000096014547",
"database": "ZINC",
"url": ""
},
{
"id": "C05276",
"database": "COMPOUND",
"url": ""
},
{
"id": "8144495",
"database": "PubChem Substance",
"url": ""
},
{
"id": "HMDB0003949",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "8144495",
"database": "PubChem Substance",
"url": ""
},
{
"id": "HMDB0003949",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "C05276",
"database": "COMPOUND",
"url": ""
},
{
"id": "HMDB0003950",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "000096014547",
"database": "ZINC",
"url": ""
},
{
"id": "27537",
"database": "ChEBI",
"url": ""
},
{
"id": "C05276",
"database": "COMPOUND",
"url": ""
},
{
"id": "27537",
"database": "ChEBI",
"url": ""
},
{
"id": "8144495",
"database": "PubChem Substance",
"url": ""
},
{
"id": "HMDB0003950",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "HMDB0003949",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "000096014547",
"database": "ZINC",
"url": ""
}
]
},
{
"participant_id": "R-ALL-77337",
"participant_name": "Octanoyl-CoA [mitochondrial matrix]",
"crossref": [
{
"id": "C01944",
"database": "COMPOUND",
"url": ""
},
{
"id": "15533",
"database": "ChEBI",
"url": ""
},
{
"id": "8143231",
"database": "PubChem Substance",
"url": ""
},
{
"id": "000096014975",
"database": "ZINC",
"url": ""
},
{
"id": "HMDB0001070",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "C01944",
"database": "COMPOUND",
"url": ""
},
{
"id": "15533",
"database": "ChEBI",
"url": ""
},
{
"id": "8143231",
"database": "PubChem Substance",
"url": ""
},
{
"id": "000096014975",
"database": "ZINC",
"url": ""
},
{
"id": "HMDB0001070",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "C01944",
"database": "COMPOUND",
"url": ""
},
{
"id": "15533",
"database": "ChEBI",
"url": ""
},
{
"id": "8143231",
"database": "PubChem Substance",
"url": ""
},
{
"id": "000096014975",
"database": "ZINC",
"url": ""
},
{
"id": "HMDB0001070",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "8143231",
"database": "PubChem Substance",
"url": ""
},
{
"id": "HMDB0001070",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "C01944",
"database": "COMPOUND",
"url": ""
},
{
"id": "15533",
"database": "ChEBI",
"url": ""
},
{
"id": "000096014975",
"database": "ZINC",
"url": ""
},
{
"id": "C01944",
"database": "COMPOUND",
"url": ""
},
{
"id": "15533",
"database": "ChEBI",
"url": ""
},
{
"id": "8143231",
"database": "PubChem Substance",
"url": ""
},
{
"id": "000096014975",
"database": "ZINC",
"url": ""
},
{
"id": "HMDB0001070",
"database": "HMDB Metabolite",
"url": ""
}
]
},
{
"participant_id": "R-HSA-49491",
"participant_name": "ACADM [mitochondrial matrix]",
"crossref": [
{
"id": "ENSP00000359878",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000117054",
"database": "OpenTargets",
"url": ""
},
{
"id": "1T9G",
"database": "PDB",
"url": ""
},
{
"id": "1EGC",
"database": "PDB",
"url": ""
},
{
"id": "ENSG00000117054",
"database": "Ensembl",
"url": ""
},
{
"id": "2A1T",
"database": "PDB",
"url": ""
},
{
"id": "ENSP00000409612",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000117054-ACADM",
"database": "HPA",
"url": ""
},
{
"id": "1EGE",
"database": "PDB",
"url": ""
},
{
"id": "HMDBP00104",
"database": "HMDB Protein",
"url": ""
},
{
"id": "4P13",
"database": "PDB",
"url": ""
},
{
"id": "1EGD",
"database": "PDB",
"url": ""
},
{
"id": "15064",
"database": "Orphanet",
"url": ""
},
{
"id": "NP_001120800.1",
"database": "RefSeq",
"url": ""
},
{
"id": "P11310",
"database": "GeneCards",
"url": ""
},
{
"id": "ENST00000370841",
"database": "Ensembl",
"url": ""
},
{
"id": "P11310",
"database": "UniProt",
"url": ""
},
{
"id": "P11310",
"database": "PRO",
"url": ""
},
{
"id": "P11310",
"database": "Pharos - Targets",
"url": ""
},
{
"id": "ENST00000420607",
"database": "Ensembl",
"url": ""
},
{
"id": "NP_000007.1",
"database": "RefSeq",
"url": ""
}
]
},
{
"participant_id": "R-HSA-5649946",
"participant_name": "ACADM gene [nucleoplasm]",
"crossref": [
{
"id": "ENSG00000117054",
"database": "ENSEMBL",
"url": ""
}
]
}
],
"reaction_enzymes": [
{
"uniprot_ac": "A1ZBJ2",
"gene_name": "Acadvl",
"activity": [
{
"ec_number": "1.3.8.9",
"activity": "a very-long-chain 2,3-saturated fatty acyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = a very-long-chain (2E)-enoyl-CoA + reduced [electron-transfer flavoprotein].",
"evidence": [
{
"id": "A1ZBJ2",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A1ZBJ2"
}
]
},
{
"ec_number": "1.3.8.9",
"activity": "",
"evidence": [
{
"id": "A1ZBJ2",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A1ZBJ2"
}
]
}
]
},
{
"uniprot_ac": "B1WC61",
"gene_name": "Acad9",
"activity": [
{
"ec_number": "1.3.8.-",
"activity": "",
"evidence": [
{
"id": "B1WC61",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/B1WC61"
}
]
}
]
},
{
"uniprot_ac": "P08503",
"gene_name": "Acadm",
"activity": [
{
"ec_number": "1.3.8.7",
"activity": "a medium-chain 2,3-saturated fatty acyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = a medium-chain (2E)-enoyl-CoA + reduced [electron-transfer flavoprotein].",
"evidence": [
{
"id": "P08503",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P08503"
}
]
},
{
"ec_number": "1.3.8.7",
"activity": "",
"evidence": [
{
"id": "P08503",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P08503"
}
]
}
]
},
{
"uniprot_ac": "P11310",
"gene_name": "ACADM",
"activity": [
{
"ec_number": "1.3.8.7",
"activity": "a medium-chain 2,3-saturated fatty acyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = a medium-chain (2E)-enoyl-CoA + reduced [electron-transfer flavoprotein].",
"evidence": [
{
"id": "P11310",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P11310"
}
]
},
{
"ec_number": "1.3.8.7",
"activity": "",
"evidence": [
{
"id": "P11310",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P11310"
}
]
}
]
},
{
"uniprot_ac": "P12007",
"gene_name": "Ivd",
"activity": [
{
"ec_number": "1.3.8.4",
"activity": "3-methylbutanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = 3-methyl-(2E)-butenoyl-CoA + reduced [electron-transfer flavoprotein].",
"evidence": [
{
"id": "P12007",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P12007"
}
]
},
{
"ec_number": "1.3.8.1",
"activity": "a short-chain 2,3-saturated fatty acyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = a short-chain (2E)-enoyl-CoA + reduced [electron-transfer flavoprotein].",
"evidence": [
{
"id": "P12007",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P12007"
}
]
},
{
"ec_number": "1.3.8.4",
"activity": "",
"evidence": [
{
"id": "P12007",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P12007"
}
]
},
{
"ec_number": "1.3.8.1",
"activity": "",
"evidence": [
{
"id": "P12007",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P12007"
}
]
}
]
},
{
"uniprot_ac": "P15650",
"gene_name": "Acadl",
"activity": [
{
"ec_number": "1.3.8.8",
"activity": "a long-chain 2,3-saturated fatty acyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = a long-chain (2E)-enoyl-CoA + reduced [electron-transfer flavoprotein].",
"evidence": [
{
"id": "P15650",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P15650"
}
]
},
{
"ec_number": "1.3.8.8",
"activity": "",
"evidence": [
{
"id": "P15650",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P15650"
}
]
}
]
},
{
"uniprot_ac": "P15651",
"gene_name": "Acads",
"activity": [
{
"ec_number": "1.3.8.1",
"activity": "a short-chain 2,3-saturated fatty acyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = a short-chain (2E)-enoyl-CoA + reduced [electron-transfer flavoprotein].",
"evidence": [
{
"id": "P15651",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P15651"
}
]
},
{
"ec_number": "1.3.8.1",
"activity": "",
"evidence": [
{
"id": "P15651",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P15651"
}
]
}
]
},
{
"uniprot_ac": "P16219",
"gene_name": "ACADS",
"activity": [
{
"ec_number": "1.3.8.1",
"activity": "a short-chain 2,3-saturated fatty acyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = a short-chain (2E)-enoyl-CoA + reduced [electron-transfer flavoprotein].",
"evidence": [
{
"id": "P16219",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P16219"
}
]
},
{
"ec_number": "1.3.8.1",
"activity": "",
"evidence": [
{
"id": "P16219",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P16219"
}
]
}
]
},
{
"uniprot_ac": "P26440",
"gene_name": "IVD",
"activity": [
{
"ec_number": "1.3.8.4",
"activity": "3-methylbutanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = 3-methyl-(2E)-butenoyl-CoA + reduced [electron-transfer flavoprotein].",
"evidence": [
{
"id": "P26440",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P26440"
}
]
},
{
"ec_number": "1.3.8.1",
"activity": "a short-chain 2,3-saturated fatty acyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = a short-chain (2E)-enoyl-CoA + reduced [electron-transfer flavoprotein].",
"evidence": [
{
"id": "P26440",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P26440"
}
]
},
{
"ec_number": "1.3.8.1",
"activity": "",
"evidence": [
{
"id": "P26440",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P26440"
}
]
},
{
"ec_number": "1.3.8.4",
"activity": "",
"evidence": [
{
"id": "P26440",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P26440"
}
]
}
]
},
{
"uniprot_ac": "P28330",
"gene_name": "ACADL",
"activity": [
{
"ec_number": "1.3.8.8",
"activity": "a long-chain 2,3-saturated fatty acyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = a long-chain (2E)-enoyl-CoA + reduced [electron-transfer flavoprotein].",
"evidence": [
{
"id": "P28330",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P28330"
}
]
},
{
"ec_number": "1.3.8.8",
"activity": "",
"evidence": [
{
"id": "P28330",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P28330"
}
]
}
]
},
{
"uniprot_ac": "P45952",
"gene_name": "Acadm",
"activity": [
{
"ec_number": "1.3.8.7",
"activity": "a medium-chain 2,3-saturated fatty acyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = a medium-chain (2E)-enoyl-CoA + reduced [electron-transfer flavoprotein].",
"evidence": [
{
"id": "P45952",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P45952"
}
]
},
{
"ec_number": "1.3.8.7",
"activity": "",
"evidence": [
{
"id": "P45952",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P45952"
}
]
}
]
},
{
"uniprot_ac": "P45953",
"gene_name": "Acadvl",
"activity": [
{
"ec_number": "1.3.8.9",
"activity": "a very-long-chain 2,3-saturated fatty acyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = a very-long-chain (2E)-enoyl-CoA + reduced [electron-transfer flavoprotein].",
"evidence": [
{
"id": "P45953",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P45953"
}
]
},
{
"ec_number": "1.3.8.9",
"activity": "",
"evidence": [
{
"id": "P45953",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P45953"
}
]
}
]
},
{
"uniprot_ac": "P45954",
"gene_name": "ACADSB",
"activity": [
{
"ec_number": "1.3.8.5",
"activity": "2-methylbutanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E)-2-methylbut-2-enoyl-CoA + reduced [electron-transfer flavoprotein].",
"evidence": [
{
"id": "P45954",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P45954"
}
]
},
{
"ec_number": "1.3.8.5",
"activity": "",
"evidence": [
{
"id": "P45954",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P45954"
}
]
}
]
},
{
"uniprot_ac": "P49748",
"gene_name": "ACADVL",
"activity": [
{
"ec_number": "1.3.8.9",
"activity": "a very-long-chain 2,3-saturated fatty acyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = a very-long-chain (2E)-enoyl-CoA + reduced [electron-transfer flavoprotein].",
"evidence": [
{
"id": "P49748",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P49748"
}
]
},
{
"ec_number": "1.3.8.9",
"activity": "",
"evidence": [
{
"id": "P49748",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P49748"
}
]
}
]
},
{
"uniprot_ac": "P50544",
"gene_name": "Acadvl",
"activity": [
{
"ec_number": "1.3.8.9",
"activity": "a very-long-chain 2,3-saturated fatty acyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = a very-long-chain (2E)-enoyl-CoA + reduced [electron-transfer flavoprotein].",
"evidence": [
{
"id": "P50544",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P50544"
}
]
},
{
"ec_number": "1.3.8.9",
"activity": "",
"evidence": [
{
"id": "P50544",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P50544"
}
]
}
]
},
{
"uniprot_ac": "P51174",
"gene_name": "Acadl",
"activity": [
{
"ec_number": "1.3.8.8",
"activity": "a long-chain 2,3-saturated fatty acyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = a long-chain (2E)-enoyl-CoA + reduced [electron-transfer flavoprotein].",
"evidence": [
{
"id": "P51174",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P51174"
}
]
},
{
"ec_number": "1.3.8.8",
"activity": "",
"evidence": [
{
"id": "P51174",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P51174"
}
]
}
]
},
{
"uniprot_ac": "P70584",
"gene_name": "Acadsb",
"activity": [
{
"ec_number": "1.3.8.5",
"activity": "2-methylbutanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E)-2-methylbut-2-enoyl-CoA + reduced [electron-transfer flavoprotein].",
"evidence": [
{
"id": "P70584",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P70584"
}
]
},
{
"ec_number": "1.3.8.5",
"activity": "",
"evidence": [
{
"id": "P70584",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P70584"
}
]
}
]
},
{
"uniprot_ac": "Q07417",
"gene_name": "Acads",
"activity": [
{
"ec_number": "1.3.8.1",
"activity": "a short-chain 2,3-saturated fatty acyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = a short-chain (2E)-enoyl-CoA + reduced [electron-transfer flavoprotein].",
"evidence": [
{
"id": "Q07417",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q07417"
}
]
},
{
"ec_number": "1.3.8.1",
"activity": "",
"evidence": [
{
"id": "Q07417",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q07417"
}
]
}
]
},
{
"uniprot_ac": "Q15788",
"gene_name": "NCOA1",
"activity": [
{
"ec_number": "2.3.1.48",
"activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].",
"evidence": [
{
"id": "Q15788",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q15788"
}
]
},
{
"ec_number": "2.3.1.48",
"activity": "",
"evidence": [
{
"id": "Q15788",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q15788"
}
]
}
]
},
{
"uniprot_ac": "Q3L8U1",
"gene_name": "CHD9",
"activity": [
{
"ec_number": "3.6.4.12",
"activity": "ATP + H2O = ADP + H(+) + phosphate.",
"evidence": [
{
"id": "Q3L8U1",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q3L8U1"
}
]
},
{
"ec_number": "3.6.4.12",
"activity": "",
"evidence": [
{
"id": "Q3L8U1",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q3L8U1"
}
]
}
]
},
{
"uniprot_ac": "Q86X55",
"gene_name": "CARM1",
"activity": [
{
"ec_number": "2.1.1.319",
"activity": "L-arginyl-[protein] + 2 S-adenosyl-L-methionine = 2 H(+) + N(omega),N(omega)-dimethyl-L-arginyl-[protein] + 2 S-adenosyl-L-homocysteine.",
"evidence": [
{
"id": "Q86X55",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q86X55"
}
]
},
{
"ec_number": "2.1.1.319",
"activity": "",
"evidence": [
{
"id": "Q86X55",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q86X55"
}
]
}
]
},
{
"uniprot_ac": "Q8JZN5",
"gene_name": "Acad9",
"activity": [
{
"ec_number": "1.3.8.-",
"activity": "",
"evidence": [
{
"id": "Q8JZN5",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q8JZN5"
}
]
}
]
},
{
"uniprot_ac": "Q92793",
"gene_name": "CREBBP",
"activity": [
{
"ec_number": "2.3.1.48",
"activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].",
"evidence": [
{
"id": "Q92793",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q92793"
}
]
},
{
"ec_number": "2.3.1.48",
"activity": "",
"evidence": [
{
"id": "Q92793",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q92793"
}
]
},
{
"ec_number": "2.3.1.-",
"activity": "",
"evidence": [
{
"id": "Q92793",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q92793"
}
]
}
]
},
{
"uniprot_ac": "Q96RS0",
"gene_name": "TGS1",
"activity": [
{
"ec_number": "2.1.1.-",
"activity": "",
"evidence": [
{
"id": "Q96RS0",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q96RS0"
}
]
}
]
},
{
"uniprot_ac": "Q9BYK8",
"gene_name": "HELZ2",
"activity": [
{
"ec_number": "3.1.13.1",
"activity": "Exonucleolytic cleavage in the 3'- to 5'-direction to yield nucleoside 5'-phosphates.",
"evidence": [
{
"id": "Q9BYK8",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9BYK8"
}
]
},
{
"ec_number": "3.6.4.13",
"activity": "ATP + H2O = ADP + H(+) + phosphate.",
"evidence": [
{
"id": "Q9BYK8",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9BYK8"
}
]
},
{
"ec_number": "3.1.13.1",
"activity": "",
"evidence": [
{
"id": "Q9BYK8",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9BYK8"
}
]
}
]
},
{
"uniprot_ac": "Q9DBL1",
"gene_name": "Acadsb",
"activity": [
{
"ec_number": "1.3.8.5",
"activity": "2-methylbutanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E)-2-methylbut-2-enoyl-CoA + reduced [electron-transfer flavoprotein].",
"evidence": [
{
"id": "Q9DBL1",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9DBL1"
}
]
},
{
"ec_number": "1.3.8.5",
"activity": "",
"evidence": [
{
"id": "Q9DBL1",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9DBL1"
}
]
}
]
},
{
"uniprot_ac": "Q9H845",
"gene_name": "ACAD9",
"activity": [
{
"ec_number": "1.3.8.-",
"activity": "",
"evidence": [
{
"id": "Q9H845",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9H845"
}
]
}
]
},
{
"uniprot_ac": "Q9JHI5",
"gene_name": "Ivd",
"activity": [
{
"ec_number": "1.3.8.4",
"activity": "3-methylbutanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = 3-methyl-(2E)-butenoyl-CoA + reduced [electron-transfer flavoprotein].",
"evidence": [
{
"id": "Q9JHI5",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9JHI5"
}
]
},
{
"ec_number": "1.3.8.1",
"activity": "a short-chain 2,3-saturated fatty acyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = a short-chain (2E)-enoyl-CoA + reduced [electron-transfer flavoprotein].",
"evidence": [
{
"id": "Q9JHI5",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9JHI5"
}
]
},
{
"ec_number": "1.3.8.4",
"activity": "",
"evidence": [
{
"id": "Q9JHI5",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9JHI5"
}
]
}
]
},
{
"uniprot_ac": "Q9VSA3",
"gene_name": "Mcad",
"activity": [
{
"ec_number": "1.3.8.7",
"activity": "a medium-chain 2,3-saturated fatty acyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = a medium-chain (2E)-enoyl-CoA + reduced [electron-transfer flavoprotein].",
"evidence": [
{
"id": "Q9VSA3",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9VSA3"
}
]
},
{
"ec_number": "1.3.8.7",
"activity": "",
"evidence": [
{
"id": "Q9VSA3",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9VSA3"
}
]
}
]
},
{
"uniprot_ac": "Q9VSL9",
"gene_name": "Dmel\\CG6638",
"activity": [
{
"ec_number": "1.3.8.4",
"activity": "3-methylbutanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = 3-methyl-(2E)-butenoyl-CoA + reduced [electron-transfer flavoprotein].",
"evidence": [
{
"id": "Q9VSL9",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9VSL9"
}
]
},
{
"ec_number": "1.3.8.1",
"activity": "a short-chain 2,3-saturated fatty acyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = a short-chain (2E)-enoyl-CoA + reduced [electron-transfer flavoprotein].",
"evidence": [
{
"id": "Q9VSL9",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9VSL9"
}
]
},
{
"ec_number": "1.3.8.4",
"activity": "",
"evidence": [
{
"id": "Q9VSL9",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9VSL9"
}
]
},
{
"ec_number": "1.3.8.1",
"activity": "",
"evidence": [
{
"id": "Q9VSL9",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9VSL9"
}
]
}
]
},
{
"uniprot_ac": "Q9VVU1",
"gene_name": "GH07925p",
"activity": [
{
"ec_number": "1.3.8.5",
"activity": "2-methylbutanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E)-2-methylbut-2-enoyl-CoA + reduced [electron-transfer flavoprotein].",
"evidence": [
{
"id": "Q9VVU1",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9VVU1"
}
]
},
{
"ec_number": "1.3.8.5",
"activity": "",
"evidence": [
{
"id": "Q9VVU1",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9VVU1"
}
]
}
]
}
],
"biomarkers": [],
"synthesized_glycans": [],
"cluster_types": [
{
"name": "isoformset.uniprotkb",
"label": "Isoforms"
},
{
"name": "homologset.mgi",
"label": "MGI Homologs"
},
{
"name": "homologset.oma",
"label": "OMA Homologs"
}
],
"sequence_features": {
"n_linked_sites": [],
"o_linked_sites": [
280
],
"snv_sites": [
96,
280
],
"glycation_sites": [],
"phosphorylation_sites": [
351
],
"sequon_annotation_sites": []
},
"section_stats": [
{
"table_id": "glycosylation",
"table_stats": [
{
"field": "total",
"count": 1
},
{
"field": "total_sites",
"count": 1
},
{
"field": "n_linked_glycans",
"count": 0
},
{
"field": "n_linked_glycan_sites",
"count": 0
},
{
"field": "o_linked_glycans",
"count": 1
},
{
"field": "o_linked_glycan_sites",
"count": 1
}
],
"sort_fields": [
"glytoucan_ac",
"type",
"subtype",
"site_category",
"site_seq",
"relation",
"comment",
"start_pos",
"start_aa",
"end_pos",
"end_aa",
"residue",
"site_lbl"
]
},
{
"table_id": "glycosylation_reported",
"table_stats": [
{
"field": "total",
"count": 0
},
{
"field": "total_sites",
"count": 0
},
{
"field": "n_linked_glycans",
"count": 0
},
{
"field": "n_linked_glycan_sites",
"count": 0
},
{
"field": "o_linked_glycans",
"count": 0
},
{
"field": "o_linked_glycan_sites",
"count": 0
}
],
"sort_fields": []
},
{
"table_id": "glycosylation_reported_with_glycan",
"table_stats": [
{
"field": "total",
"count": 1
},
{
"field": "total_sites",
"count": 1
},
{
"field": "n_linked_glycans",
"count": 0
},
{
"field": "n_linked_glycan_sites",
"count": 0
},
{
"field": "o_linked_glycans",
"count": 1
},
{
"field": "o_linked_glycan_sites",
"count": 1
}
],
"sort_fields": [
"glytoucan_ac",
"type",
"subtype",
"site_category",
"site_seq",
"relation",
"comment",
"start_pos",
"start_aa",
"end_pos",
"end_aa",
"residue",
"site_lbl"
]
},
{
"table_id": "glycosylation_predicted",
"table_stats": [
{
"field": "total",
"count": 0
},
{
"field": "total_sites",
"count": 0
},
{
"field": "n_linked_glycans",
"count": 0
},
{
"field": "n_linked_glycan_sites",
"count": 0
},
{
"field": "o_linked_glycans",
"count": 0
},
{
"field": "o_linked_glycan_sites",
"count": 0
}
],
"sort_fields": []
},
{
"table_id": "glycosylation_automatic_literature_mining",
"table_stats": [
{
"field": "total",
"count": 0
},
{
"field": "total_sites",
"count": 0
},
{
"field": "n_linked_glycans",
"count": 0
},
{
"field": "n_linked_glycan_sites",
"count": 0
},
{
"field": "o_linked_glycans",
"count": 0
},
{
"field": "o_linked_glycan_sites",
"count": 0
}
],
"sort_fields": []
},
{
"table_id": "phosphorylation",
"table_stats": [
{
"field": "total",
"count": 1
},
{
"field": "total_sites",
"count": 1
}
],
"sort_fields": [
"start_pos",
"end_pos",
"kinase_uniprot_canonical_ac",
"kinase_gene_name",
"residue",
"comment",
"site_lbl"
]
},
{
"table_id": "snv",
"table_stats": [
{
"field": "total",
"count": 2
},
{
"field": "total_sites",
"count": 2
}
],
"sort_fields": [
"start_pos",
"end_pos",
"sequence_org",
"sequence_mut",
"comment",
"chr_id",
"chr_pos",
"ref_nt",
"alt_nt",
"minor_allelic_frequency",
"site_lbl"
]
},
{
"table_id": "snv_disease",
"table_stats": [
{
"field": "total",
"count": 0
},
{
"field": "total_sites",
"count": 0
}
],
"sort_fields": []
},
{
"table_id": "snv_non_disease",
"table_stats": [
{
"field": "total",
"count": 2
},
{
"field": "total_sites",
"count": 2
}
],
"sort_fields": [
"start_pos",
"end_pos",
"sequence_org",
"sequence_mut",
"comment",
"chr_id",
"chr_pos",
"ref_nt",
"alt_nt",
"minor_allelic_frequency",
"site_lbl"
]
},
{
"table_id": "publication",
"table_stats": [
{
"field": "total",
"count": 67
}
],
"sort_fields": [
"title",
"journal",
"date",
"authors"
]
}
]
}