{
"uniprot_canonical_ac": "P05091-1",
"uniprot_ac": "P05091",
"uniprot_id": "ALDH2_HUMAN",
"mass": {
"chemical_mass": 56381.0,
"monoisotopic_mass": 56381.0
},
"refseq": {
"ac": "NP_000681",
"name": "aldehyde dehydrogenase, mitochondrial isoform 1 precursor",
"summary": "This protein belongs to the aldehyde dehydrogenase family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of aldehyde dehydrogenase, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of East Asians have the cytosolic isozyme but not the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among East Asians than among Caucasians could be related to the absence of a catalytically active form of the mitochondrial isozyme. The increased exposure to acetaldehyde in individuals with the catalytically inactive form may also confer greater susceptibility to many types of cancer. This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Nov 2016].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000681"
},
"gene_names": [
{
"name": "ALDH2",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/P05091",
"id": "P05091"
},
{
"name": "ALDH-E2; ALDHI; ALDM",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000681",
"id": "NP_000681"
},
{
"name": "ALDH2",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000681",
"id": "NP_000681"
},
{
"name": "ALDM",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P05091",
"id": "P05091"
}
],
"protein_names": [
{
"name": "Aldehyde dehydrogenase, mitochondrial",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "P05091"
},
{
"name": "1.2.1.3",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P05091"
},
{
"name": "ALDH class 2",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P05091"
},
{
"name": "ALDH-E2",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P05091"
},
{
"name": "ALDHI",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P05091"
},
{
"name": "acetaldehyde dehydrogenase 2; nucleus-encoded mitochondrial aldehyde dehydrogenase 2; liver mitochondrial ALDH; ALDH class 2; aldehyde dehydrogenase 2 family (mitochondrial); epididymis secretory sperm binding protein",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000681",
"id": "NP_000681"
},
{
"name": "aldehyde dehydrogenase, mitochondrial isoform 1 precursor",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000681",
"id": "NP_000681"
}
],
"function": [
{
"annotation": "A Single nucleotide polymorphism in the ALDH2 gene modifies the risk of esophageal squamous cell carcinoma in BRCA2 p.K3326* carriers. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000681",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000681"
},
{
"database": "PubMed",
"id": "37943872",
"url": "https://glygen.org/publication/PubMed/37943872"
}
]
},
{
"annotation": "ALDH2 deficiency exacerbates MCD-diet induced MASLD by modulating bile acid metabolism.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000681",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000681"
},
{
"database": "PubMed",
"id": "38104741",
"url": "https://glygen.org/publication/PubMed/38104741"
}
]
},
{
"annotation": "Aldehyde dehydrogenase 2 gene rs671 G>A polymorphism is associated with an increased risk of digestive tract cancer.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000681",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000681"
},
{
"database": "PubMed",
"id": "37871625",
"url": "https://glygen.org/publication/PubMed/37871625"
}
]
},
{
"annotation": "Genetic influences on alcohol flushing in East Asian populations. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000681",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000681"
},
{
"database": "PubMed",
"id": "37875790",
"url": "https://glygen.org/publication/PubMed/37875790"
}
]
},
{
"annotation": "Relationship between esophageal squamous cell carcinoma risk and alcohol-related ALDH2 and ADH1B polymorphisms: Evidence from a meta-analysis and Mendelian randomization analysis.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000681",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000681"
},
{
"database": "PubMed",
"id": "37795758",
"url": "https://glygen.org/publication/PubMed/37795758"
}
]
},
{
"annotation": "Required for clearance of cellular formaldehyde, a cytotoxic and carcinogenic metabolite that induces DNA damage.",
"evidence": [
{
"database": "UniProtKB",
"id": "P05091",
"url": "https://www.uniprot.org/uniprot/P05091#function"
},
{
"database": "PubMed",
"id": "33355142",
"url": "https://glygen.org/publication/PubMed/33355142"
},
{
"database": "UniProtKB",
"id": "S4R3S4",
"url": "https://www.uniprot.org/uniprot/S4R3S4#function"
},
{
"database": "UniProtKB",
"id": "ARBA00037438",
"url": "https://www.uniprot.org/uniprot/ARBA00037438#function"
}
]
},
{
"annotation": "This protein belongs to the aldehyde dehydrogenase family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of aldehyde dehydrogenase, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of East Asians have the cytosolic isozyme but not the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among East Asians than among Caucasians could be related to the absence of a catalytically active form of the mitochondrial isozyme. The increased exposure to acetaldehyde in individuals with the catalytically inactive form may also confer greater susceptibility to many types of cancer. This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Nov 2016].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000681",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000681"
}
]
}
],
"disease": [
{
"disease_id": "DOID:0080952",
"recommended_name": {
"id": "DOID:0080952",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0080952",
"name": "AMED syndrome",
"description": "A syndrome that is characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome in childhood, and poor overall growth with short stature and that has_material_basis_in homozygous or compound heterozygous mutation in the ADH5 gene on chromosome 4q accompanied by a specific homozygous or heterozygous allele in the ALDH2 gene (E504K) on chromosome 12q24. Defects in both of these genes are necessary for the disorder to manifest, consistent with digenic inheritance."
},
"synonyms": [
{
"id": "DOID:0080952",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0080952",
"name": "AMEDS",
"description": ""
},
{
"id": "MONDO:0030894",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0030894",
"name": "AMED syndrome, digenic",
"description": ""
},
{
"id": "MONDO:0030894",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0030894",
"name": "AMED syndrome, digenic",
"description": ""
},
{
"id": "MONDO:0030894",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0030894",
"name": "AMEDS",
"description": ""
},
{
"id": "MONDO:0030894",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0030894",
"name": "AMeD syndrome",
"description": ""
},
{
"id": "MONDO:0030894",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0030894",
"name": "aplastic anemia-intellectual disability-dwarfism syndrome",
"description": ""
},
{
"id": "MONDO:0030894",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0030894",
"name": "bone marrow failure syndrome 7, digenic",
"description": ""
},
{
"id": "MIM:619151",
"resource": "MIM",
"url": "https://www.omim.org/entry/619151",
"name": "AMED syndrome, digenic",
"description": "AMED syndrome, digenic"
}
],
"evidence": [
{
"id": "619151",
"database": "MIM",
"url": "https://www.omim.org/entry/619151"
}
]
},
{
"disease_id": "MONDO:0012454",
"recommended_name": {
"id": "MONDO:0012454",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012454",
"name": "alcohol sensitivity, acute",
"description": "Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently, usually found in Asians. These individuals accumulate acetaldehyde, the primary metabolite of ethanol, because of a genetic polymorphism of aldehyde dehydrogenase (ALDH) that metabolizes acetaldehyde to nontoxic acetate. The only way to prevent alcohol intolerance reactions is to avoid alcohol. Alcohol intolerance isn't an allergy. However, in some cases, what seems to be alcohol intolerance may be a reaction to something in an alcoholic beverage, such as chemicals, grains or preservatives. Combining alcohol with certain medications also can cause reactions. In rare instances, an unpleasant reaction to alcohol can be a sign of a serious underlying health problem that requires diagnosis and treatment."
},
"synonyms": [
{
"id": "MONDO:0012454",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012454",
"name": "alcohol sensitivity, acute",
"description": ""
},
{
"id": "MONDO:0012454",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012454",
"name": "Hangover, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012454",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012454",
"name": "acute alcohol sensitivity",
"description": ""
},
{
"id": "MONDO:0012454",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012454",
"name": "alcohol intolerance",
"description": ""
}
],
"evidence": [
{
"id": "610251",
"database": "MIM",
"url": "https://www.omim.org/entry/610251"
}
]
}
],
"snv": [
{
"evidence": [
{
"id": "P05091",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P05091"
},
{
"id": "rs376099569",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376099569"
},
{
"id": "rs376099569",
"database": "1000Genomes",
"url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs376099569"
},
{
"id": "rs376099569",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376099569"
},
{
"id": "rs376099569",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs376099569#frequency_tab"
},
{
"id": "rs376099569",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs376099569"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 115,
"end_pos": 115,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "D",
"sequence_mut": "N",
"comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DRT->NRT).",
"chr_id": "12",
"chr_pos": "111783281",
"ref_nt": "G",
"alt_nt": "A",
"minor_allelic_frequency": "",
"site_lbl": "D115",
"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": ""
}
]
}
],
"keywords": [
"biomuta",
"somatic",
"cancer",
"disease",
"ebi"
]
},
{
"evidence": [
{
"id": "rs945203860",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs945203860"
},
{
"id": "rs945203860",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs945203860#frequency_tab"
},
{
"id": "rs945203860",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs945203860"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 294,
"end_pos": 294,
"sequence_org": "I",
"sequence_mut": "T",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NII->NIT).",
"chr_id": "12",
"chr_pos": "111792146",
"ref_nt": "C",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "I294",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs773666853",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773666853"
},
{
"id": "rs773666853",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773666853"
},
{
"id": "rs773666853",
"database": "NCI-TCGA",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773666853"
},
{
"id": "rs773666853",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs773666853"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 59,
"end_pos": 59,
"sequence_org": "P",
"sequence_mut": "L",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NLS).",
"chr_id": "12",
"chr_pos": "111781979",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "P59",
"keywords": [
"ebi",
"germline"
]
}
],
"mutagenesis": [],
"expression_tissue": [
{
"tissue": {
"name": "Adult mammalian kidney",
"namespace": "UBERON",
"id": "0000082",
"url": "http://purl.obolibrary.org/obo/UBERON_0000082"
},
"score": "98.99",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000111275",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000111275"
}
]
},
{
"tissue": {
"name": "Oral cavity",
"namespace": "UBERON",
"id": "0000167",
"url": "http://purl.obolibrary.org/obo/UBERON_0000167"
},
"score": "97.19",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000111275",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000111275"
}
]
},
{
"tissue": {
"name": "Stomach",
"namespace": "UBERON",
"id": "0000945",
"url": "http://purl.obolibrary.org/obo/UBERON_0000945"
},
"score": "98.73",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000111275",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000111275"
}
]
},
{
"tissue": {
"name": "Uterus",
"namespace": "UBERON",
"id": "0000995",
"url": "http://purl.obolibrary.org/obo/UBERON_0000995"
},
"score": "96.27",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000111275",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000111275"
}
]
},
{
"tissue": {
"name": "Esophagus",
"namespace": "UBERON",
"id": "0001043",
"url": "http://purl.obolibrary.org/obo/UBERON_0001043"
},
"score": "99.1",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000111275",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000111275"
}
]
},
{
"tissue": {
"name": "Rectum",
"namespace": "UBERON",
"id": "0001052",
"url": "http://purl.obolibrary.org/obo/UBERON_0001052"
},
"score": "98.32",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000111275",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000111275"
}
]
},
{
"tissue": {
"name": "Colon",
"namespace": "UBERON",
"id": "0001155",
"url": "http://purl.obolibrary.org/obo/UBERON_0001155"
},
"score": "98.48",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000111275",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000111275"
}
]
},
{
"tissue": {
"name": "Urinary bladder",
"namespace": "UBERON",
"id": "0001255",
"url": "http://purl.obolibrary.org/obo/UBERON_0001255"
},
"score": "97.74",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000111275",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000111275"
}
]
},
{
"tissue": {
"name": "Thyroid gland",
"namespace": "UBERON",
"id": "0002046",
"url": "http://purl.obolibrary.org/obo/UBERON_0002046"
},
"score": "96.08",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000111275",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000111275"
}
]
},
{
"tissue": {
"name": "Lung",
"namespace": "UBERON",
"id": "0002048",
"url": "http://purl.obolibrary.org/obo/UBERON_0002048"
},
"score": "98.58",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000111275",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000111275"
}
]
},
{
"tissue": {
"name": "Liver",
"namespace": "UBERON",
"id": "0002107",
"url": "http://purl.obolibrary.org/obo/UBERON_0002107"
},
"score": "99.54",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000111275",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000111275"
}
]
},
{
"tissue": {
"name": "Prostate gland",
"namespace": "UBERON",
"id": "0002367",
"url": "http://purl.obolibrary.org/obo/UBERON_0002367"
},
"score": "97.03",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000111275",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000111275"
}
]
},
{
"tissue": {
"name": "Thoracic mammary gland",
"namespace": "UBERON",
"id": "0005200",
"url": "http://purl.obolibrary.org/obo/UBERON_0005200"
},
"score": "97.21",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000111275",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000111275"
}
]
}
],
"expression_disease": [
{
"significant": "Yes",
"trend": "down",
"name": "Prostate cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10283",
"evidence": [
{
"database": "BioXpress",
"id": "P05091",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05091"
}
],
"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": "P05091",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05091"
}
],
"disease": [
{
"disease_id": "DOID:10534",
"recommended_name": {
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"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",
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"description": ""
},
{
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"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",
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"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": "P05091",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05091"
}
],
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{
"disease_id": "DOID:11054",
"recommended_name": {
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},
{
"id": "DOID:11054",
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"url": "http://disease-ontology.org/term/DOID:11054",
"name": "tumor of the bladder",
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},
{
"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",
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},
{
"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": "P05091",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05091"
}
],
"disease": [
{
"disease_id": "DOID:11934",
"recommended_name": {
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"name": "head and neck cancer",
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},
"synonyms": [
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
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},
{
"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",
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"name": "head/neck neoplasm",
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},
{
"id": "DOID:11934",
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}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Lung cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1324",
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{
"database": "BioXpress",
"id": "P05091",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05091"
}
],
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{
"disease_id": "DOID:1324",
"recommended_name": {
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1324",
"name": "lung cancer",
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},
"synonyms": [
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
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"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
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"name": "lung cancer susceptibility",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
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"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": "P05091",
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],
"disease": [
{
"disease_id": "DOID:1612",
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"name": "breast cancer",
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},
"synonyms": [
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
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},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
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"description": ""
},
{
"id": "DOID:1612",
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"url": "http://disease-ontology.org/term/DOID:1612",
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},
{
"id": "DOID:1612",
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"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary cancer",
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},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
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"name": "mammary tumor",
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},
{
"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": "P05091",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05091"
}
],
"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": "P05091",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05091"
}
],
"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": "P05091",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05091"
}
],
"disease": [
{
"disease_id": "DOID:3571",
"recommended_name": {
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "liver cancer",
"description": "A hepatobiliary system cancer that is located_in the liver."
},
"synonyms": [
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Ca liver - primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Resectable malignant neoplasm of Liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant hepato-biliary neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant tumor of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "non-resectable primary hepatic malignant neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary liver cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "resectable malignant neoplasm of the liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, not specified as primary or secondary",
"description": ""
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Uterine cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:363",
"evidence": [
{
"database": "BioXpress",
"id": "P05091",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05091"
}
],
"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": "No",
"trend": "down",
"name": "Esophageal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:5041",
"evidence": [
{
"database": "BioXpress",
"id": "P05091",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05091"
}
],
"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": ""
},
{
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"evidence": [
{
"database": "UniProtKB",
"id": "P05091",
"url": "https://www.uniprot.org/uniprot/P05091"
}
],
"pmid": ""
},
{
"name": "regulation of serotonin biosynthetic process",
"id": "GO:1905627",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905627",
"evidence": [
{
"database": "UniProtKB",
"id": "P05091",
"url": "https://www.uniprot.org/uniprot/P05091"
}
],
"pmid": ""
},
{
"name": "regulation of dopamine biosynthetic process",
"id": "GO:1903179",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903179",
"evidence": [
{
"database": "UniProtKB",
"id": "P05091",
"url": "https://www.uniprot.org/uniprot/P05091"
}
],
"pmid": ""
}
]
}
]
},
"pro_annotation": [],
"site_annotation": [
{
"start_pos": 438,
"end_pos": 440,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 439,
"end_pos": 441,
"annotation": "n_glycosylation_sequon"
}
],
"ptm_annotation": [],
"interactions": [],
"reactions": [
{
"id": "16185",
"name": "",
"equation": "an aldehyde + H2O + NAD(+) = a carboxylate + 2 H(+) + NADH",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P11884-1",
"P11883-1",
"P13601-1",
"P30839-1",
"Q66HF8-1",
"Q5XI42-1",
"Q64057-1",
"Q9JLJ3-1",
"P51647-1",
"P48448-1",
"P51648-1",
"P49419-1",
"P30837-1",
"P05091-1",
"P43353-1",
"P30838-1",
"P49189-1",
"P00352-1",
"P47738-1",
"Q9CZS1-1",
"O35945-1",
"J3QMK6-1",
"E9Q3E1-1",
"P47740-1",
"P47739-1",
"Q80VQ0-1",
"Q9DBF1-1",
"Q9JLJ2-1",
"P24549-1",
"Q04458-1",
"P47771-1",
"P54114-1",
"P83401-1",
"Q54DG1-1"
],
"evidence": [
{
"id": "16185",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/16185"
}
]
},
{
"id": "R-HSA-380608",
"name": "5-hydroxyindole acetaldehyde to 5-hydroxyindole acetic acid",
"equation": "",
"summary": "5-hydroxyindole acetaldehyde is then catalyzed by aldehyde dehydrogenase to form 5-hydroxyindole acetic acid",
"cellular_location": "mitochondrial matrix",
"input_participant_list": [
"R-ALL-380598"
],
"output_participant_list": [
"R-ALL-380593"
],
"enzyme_list": [
"P05091-1"
],
"evidence": [
{
"id": "R-HSA-380608",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380608"
}
]
},
{
"id": "R-HSA-71723",
"name": "acetaldehyde + NAD+ => acetate + NADH + H+ [mitochondrial]",
"equation": "",
"summary": "ALDH2 (aldehyde dehydrogenase) in the mitochondrial matrix catalyzes the reaction of acetaldehyde and NAD+ to form acetate and NADH + H+ (Greenfield and Pietruszko 1977; Hempel et al. 1985). The active form of the enzyme is a tetramer (Ni et al. 1999).",
"cellular_location": "mitochondrial matrix",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P05091-1"
],
"evidence": [
{
"id": "R-HSA-71723",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71723"
}
]
},
{
"id": "R-HSA-9620103",
"name": "ALDH2 transforms GTN to NO",
"equation": "",
"summary": "In the mid-19th century, nitroglycerin (nitroglycerine, glyceryl trinitrate, GTN) was synthesised by the Italian chemist Ascanio Sobrero (1812\u20131888) and was discovered to be a powerful vasodilator (Marsh & Marsh 2000), as well as an active ingredient in the manufacture of explosives, mostly dynamite. It was first used to relieve angina in 1867 and was noted to have pharmacological resistance on repeated doses (Daiber & M\u00fcnzel 2015). Today, GTN is still the treatment of choice for relieving angina. Other organic esters and inorganic nitrates are also used, but the rapid action of GTN and its established efficacy make it the mainstay of angina pectoris relief.
GTN relaxes blood vessels primarily via activation of the soluble guanylyl cyclase (sGC)/cGMP/cGMP-dependent protein kinase (cGK-I) pathway (see reviews M\u00fcnzel et al. 2003, Daiber & M\u00fcnzel 2015). The activation of sGC by nitrate-derived nitric oxide (NO) and/or S-nitrosothiol was identified as the principal mechanism of action of organic nitrates such as GTN (Schulz et al. 2002, Opelt et al. 2016). Nitrate generated within the mitochondria is metabolised further by reduction to NO and/or by conversion to S-nitrosothiol (Chen & Stamler 2006, Chen et al. 2002). However, the exact reaction mechanism of this mitochondrial NO production, as well as the NO form which is conveyed from mitochondria to cytosolic sGC, remain unresolved (Mayer & Beretta 2008, Chen & Stamler 2006). Nitrate drug biotransformation pathways to NO and their effects as NO donors across tissues remain ill defined. GTN-induced vasodilation might be mediated by an NO-related species, for example, iron\u2013nitrosyl or S-nitroso species. A significant increase in iron\u2013nitrosyl or S-nitroso species can be seen minutes after oral intake of GTN in human volunteers and animals (Wenzel et al. 2009, Janero et al. 2004).
Mitochondrial aldehyde dehydrogenase 2 (ALDH2) catalyses the bioactivation of GTN by the formation of a reactive NO or NO-related intermediate that activates sGC. Conversion of GTN into GDN (1,2-glycerol dinitrate) and nitrite by mitochondrial ALDH2 may be an essential pathway of GTN bioactivation in blood vessels (Kollau et al. 2005). NO binds to a heme group of sGC. Activation of sGC leads to increased bioavailability of cyclic guanosine-3\u2032,-5\u2032-monophosphate (cGMP) and activation of cGMP-dependent protein kinases, such as the cGMP-dependent protein kinase I (cGK-I). cGK-I inhibits the inositol-1,4,5-trisphosphate (IP3)-dependent calcium release from the ER, inhibiting myosin light chain kinase (MLCK) and thereby vasoconstriction. cGKI also phosphorylates Rho and interferes with Rho kinase inhibition of myosin light chain phosphatase (MLCP). MLCP dephosphorylates MLC and enhances SMC relaxation. It is well known that GTN can inhibit mitochondrial ALDH2 activity (Mukerjee & Pietruszko 1994). Chen et al. (Chen et al. 2002) were the first to provide evidence that prolonged treatment with GTN results in GTN tolerance and simultaneous inhibition of mitochondrial ALDH2 in vascular preparations.
For simplification, the probable NO production from GTN is described as a single event, collating the probable denitrification and reduction steps involved.",
"cellular_location": "mitochondrial matrix",
"input_participant_list": [
"R-ALL-9618878"
],
"output_participant_list": [
"R-ALL-3697886",
"R-ALL-9620115"
],
"enzyme_list": [
"P05091-1"
],
"evidence": [
{
"id": "R-HSA-9620103",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9620103"
}
]
},
{
"id": "R-HSA-9838035",
"name": "CLPXP binds mitochondrial matrix proteins",
"equation": "",
"summary": "The CLPXP complex is an ATP-dependent protease located in the mitochondrial matrix that binds, unfolds, and degrades a specific set of protein substrates. The CLPXP complex comprises two heptameric rings of CLPP protease subunits and two hexameric rings of CLPX ATPase subunits (Kang et al. 2002, 2005). Upon binding the CLPXP complex, substrate proteins are unfolded by CLPX in an ATP-dependent reaction and translocated to the CLPP protease (reviewed in Baker and Sauer 2012, Liu et al. 2014). The CLPXP complex interacts with more than 200 mitochondrial proteins (Cole et al. 2015, Ishizawa et al. 2019, Mabanglo et al. 2022) and degrades several mitochondrial matrix proteins (Lee et al. 2021, Key et al. 2021), including ERAL1, a putative 12S rRNA chaperone (inferred from mouse homologs in Szczepanowska et al. 2016, Key et al. 2022) and heme-bound ALAS1 (Kubota et al. 2016, Nomura et al. 2021). CLPXP can also regulate proteins involved in bioenergetics such as components of the electron transport chain suggesting that it can regulate proteins in the inner mitochondrial membrane (Seo et al. 2016, Ishizawa et al. 2019, Mabanglo et al. 2022). CLPXP is also thought to be involved in the mitochondrial unfolded protein response (inferred from C. elegans homologs in Haynes et al. 2007 and mouse homologs in Lian et al. 2023).",
"cellular_location": "mitochondrial matrix",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O75390-1",
"Q96I99-1",
"P28331-1",
"Q02218-1",
"P48735-1",
"P07954-1",
"O75489-1",
"P49753-1",
"Q99798-1",
"P06576-1",
"Q9UKU7-1",
"P30837-1",
"P05091-1",
"P78540-1",
"Q16740-1",
"P22830-1",
"Q9NWU1-1",
"P55809-1",
"P09622-1",
"P42126-1",
"Q13011-1",
"P10809-1",
"P13196-1",
"Q02338-1",
"P08559-1",
"P11177-1",
"P24752-1",
"P40926-1",
"P50213-1",
"P23368-1",
"Q16836-1",
"Q15118-1"
],
"evidence": [
{
"id": "R-HSA-9838035",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9838035"
}
]
},
{
"id": "R-HSA-9838081",
"name": "LONP1 degrades mitochondrial matrix proteins",
"equation": "",
"summary": "ATP hydrolysis drives translocation of the substrate protein to the active site of LONP1 (Ambro et al. 2014, Mohammed et al. 2022) where it induces the active conformation of LONP1 (Shin et al. 2021). LONP1 predominantly cleaves peptide bonds adjacent to hydrophobic amino acid residues (He et al. 2018). LONP1 degrades several mitochondrial matrix proteins (Lee et al. 2021), including steroidogenic acute regulatory protein (STAR) (Ondrovicova et al. 2005), the helicase TWNK (Twinkle, PEO1) (Kunova et al. 2017), oxidized aconitase (ACO2) (Bota and Davies 2002), HMGCS2 (Bai et al. 2023), and unassembled ribosomal subunits (Kunova et al. 2017). Phosphorylation of the HMG1 domain of TFAM prevents DNA binding and LONP1 specifically degrades TFAM that is not bound to DNA (Lu et al. 2013). LONP1 in association with mtHSP70 also possesses an ATP-dependent chaperone (protein folding) activity that is independent of its protease activity (Shin et al. 2021, Matsushima et al. 2021). A dominant mutation in LONP1 (c.901C>T; p.R301W) causes excessive protease activity and reduced chaperone activity that results in reduced mitochondrial function and encephalopathy (Besse et al. 2020). Mutations in LONP1 cause cerebral, ocular, dental, auricular, and skeletal anomalies (CODAS) syndrome (MIM 600373) (Dikoglu et al. 2015, Strauss et al. 2015).",
"cellular_location": "mitochondrial matrix",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O75390-1",
"P54868-1",
"P28331-1",
"Q02218-1",
"P07954-1",
"Q4G0N4-1",
"P11182-1",
"P49753-1",
"Q99714-1",
"Q99798-1",
"P45954-1",
"P06576-1",
"Q9UKU7-1",
"P30837-1",
"P05091-1",
"P78540-1",
"P22830-1",
"Q9NWU1-1",
"Q96RR1-1",
"P55809-1",
"P42126-1",
"Q13011-1",
"P10809-1",
"P00367-1",
"P36776-1",
"P11177-1",
"P24752-1",
"P40926-1",
"P05166-1",
"P23368-1",
"Q16836-1",
"Q15118-1",
"Q9NSE4-1"
],
"evidence": [
{
"id": "R-HSA-9838081",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9838081"
}
]
},
{
"id": "R-HSA-9838093",
"name": "LONP1 binds mitochondrial matrix proteins",
"equation": "",
"summary": "LONP1 binds substrate proteins and degrades them using an ATP-dependent mechanism (Mohammed et al. 2022). The binding of proteins to LONP1 can allosterically stimulate its ATPase activity (inferred from bacterial Lon proteases in Waxman et al. 1986, Lin et al. 2016). Human LONP1 binds, unfolds, and degrades several mitochondrial matrix proteins (Lee et al. 2021), including oxidized aconitase in which hydrophobic regions are exposed (Bota and Davies 2002). However, LONP1 is unable to degrade aggregated oxidized aconitase (Bota and Davies 2002). Steroidogenic acute regulatory protein (STAR) is directed to the mitochondrial matrix for degradation by LONP1 and other proteases (Ondrovicova et al. 2005, Granot et al. 2007). The mitochondrial large ribosome subunit MRPL32 is degraded by LONP1 when MRPL32 is not incorporated in the ribosome and hence not bound to nucleic acid (Kunova et al. 2017). Other ribosomal subunits appear to be similarly degraded (Kunova et al. 2017). The helicase TWNK (Twinkle, PEO1) is degraded by LONP1 regardless of its association with nucleic acid (Kunova et al. 2017). Other substrates of LONP1 may include SSBP1, MTERFD3, FASTKD2, and CLPX (Rend\u00f3n and Shoubridge 2018).",
"cellular_location": "mitochondrial matrix",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O75390-1",
"P54868-1",
"P28331-1",
"Q02218-1",
"P07954-1",
"Q4G0N4-1",
"P11182-1",
"P49753-1",
"Q99714-1",
"Q99798-1",
"P45954-1",
"P06576-1",
"Q9UKU7-1",
"P30837-1",
"P05091-1",
"P78540-1",
"P22830-1",
"Q9NWU1-1",
"Q96RR1-1",
"P55809-1",
"P42126-1",
"Q13011-1",
"P10809-1",
"P00367-1",
"P36776-1",
"P11177-1",
"P24752-1",
"P40926-1",
"P05166-1",
"P23368-1",
"Q16836-1",
"Q15118-1",
"Q9NSE4-1"
],
"evidence": [
{
"id": "R-HSA-9838093",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9838093"
}
]
},
{
"id": "R-HSA-9838289",
"name": "CLPXP degrades mitochondrial matrix proteins",
"equation": "",
"summary": "The CLPXP complex comprises two heptameric rings of the barrel-shaped CLPP protease and two hexameric rings of the AAA+ CLPX ATPase (Kang et al. 2002, 2005). Though isolated CLPP subunits have peptidase activity, they only have significant protease activity when complexed with CLPX (Kang et al. 2005). The CLPX subunit unfolds proteins so they can enter the axial pore of the CLPP protease (reviewed in Baker and Sauer 2012, Liu et al. 2014). The CLPXP complex binds and degrades several mitochondrial matrix proteins (Lee et al. 2021, Key et al. 2021), including ALAS1 bound to heme (Kubota et al. 2016, Nomura et al. 2021). CLPXP can also regulate proteins involved in bioenergetics such as components of the electron transport chain suggesting that it can regulate proteins in the inner mitochondrial membrane (Seo et al. 2016, Ishizawa et al. 2019, Mabanglo et al. 2022). CLPXP is thought to be involved in the mitochondrial unfolded protein response (inferred from C. elegans homologs in Haynes et al. 2007 and mouse homologs in Lian et al. 2023). Peptides produced by CLPXP are transported from the mitochondria into the cytosol and activate ATF5 (ATFS-1 in C. elegans). ATF5 subsequently translocates to the nucleus where it enhances the expression of mitochondrial proteases (CLPP and LONP1) and chaperones (HSP60 and GRP75) to restore proteostasis (inferred from C. elegans homologs in Haynes et al. 2010, inferred from mouse homologs in Deepa et al. 2016, Fiorese et al. 2016, inferred from rat homologs in Lian et al. 2023). Recessive mutations in the CLPP subunit of the CLPXP complex cause Perreault Syndrome, which is characterized by congenital sensorineural loss, ataxia, azoospermia (male infertility), ovarian failure, psychomotor retardation, ataxia, autism and epilepsy (Jenkinson et al. 2013, Demain et al. 2017, Faridi et al. 2022).",
"cellular_location": "mitochondrial matrix",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O75390-1",
"Q96I99-1",
"P28331-1",
"Q02218-1",
"P48735-1",
"P07954-1",
"O75489-1",
"P49753-1",
"Q99798-1",
"P06576-1",
"Q9UKU7-1",
"P30837-1",
"P05091-1",
"P78540-1",
"Q16740-1",
"P22830-1",
"Q9NWU1-1",
"P55809-1",
"P09622-1",
"P42126-1",
"Q13011-1",
"P10809-1",
"P13196-1",
"Q02338-1",
"P08559-1",
"P11177-1",
"P24752-1",
"P40926-1",
"P50213-1",
"P23368-1",
"Q16836-1",
"Q15118-1"
],
"evidence": [
{
"id": "R-HSA-9838289",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9838289"
}
]
}
],
"reaction_participants": [
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"participant_name": "NO [mitochondrial matrix]",
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]
},
{
"participant_id": "R-ALL-380598",
"participant_name": "HIALD [mitochondrial matrix]",
"crossref": [
{
"id": "000000895828",
"database": "ZINC",
"url": ""
},
{
"id": "C05634",
"database": "COMPOUND",
"url": ""
},
{
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"url": ""
},
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}
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{
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"id": "P30838",
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}
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}
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{
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},
{
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{
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}
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{
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},
{
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}
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{
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{
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{
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},
{
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{
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{
"ec_number": "1.3.8.5",
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{
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}
]
},
{
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]
}
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{
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}
]
},
{
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{
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]
}
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{
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}
]
},
{
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{
"id": "P47739",
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}
]
}
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{
"ec_number": "1.2.1.3",
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{
"id": "P47740",
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}
]
},
{
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{
"id": "P47740",
"database": "UniProtKB",
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}
]
},
{
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{
"id": "P47740",
"database": "UniProtKB",
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]
},
{
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{
"id": "P47740",
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}
]
}
]
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{
"ec_number": "1.2.1.3",
"activity": "an aldehyde + H2O + NAD(+) = a carboxylate + 2 H(+) + NADH.",
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{
"id": "P47771",
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]
},
{
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{
"id": "P47771",
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}
]
}
]
},
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{
"ec_number": "1.2.1.3",
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]
},
{
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]
}
]
},
{
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{
"ec_number": "1.1.1.42",
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{
"id": "P48735",
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]
},
{
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{
"id": "P48735",
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]
}
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{
"ec_number": "1.2.1.19",
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{
"id": "P49189",
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]
},
{
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]
},
{
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{
"id": "P49189",
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]
},
{
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{
"id": "P49189",
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]
},
{
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"id": "P49189",
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]
}
]
},
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{
"ec_number": "1.2.1.3",
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]
},
{
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}
]
},
{
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"activity": "(S)-2-amino-6-oxohexanoate + H2O + NADP(+) = 2 H(+) + L-2-aminoadipate + NADPH.",
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{
"id": "P49419",
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"url": "https://www.uniprot.org/uniprot/P49419"
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]
},
{
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"activity": "betaine aldehyde + H2O + NAD(+) = glycine betaine + 2 H(+) + NADH.",
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{
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]
},
{
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{
"id": "P49419",
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}
]
}
]
},
{
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{
"ec_number": "3.1.2.2",
"activity": "H2O + hexadecanoyl-CoA = CoA + H(+) + hexadecanoate.",
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{
"id": "P49753",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P49753"
}
]
},
{
"ec_number": "3.1.2.2",
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{
"id": "P49753",
"database": "UniProtKB",
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}
]
}
]
},
{
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{
"ec_number": "1.1.1.41",
"activity": "D-threo-isocitrate + NAD(+) = 2-oxoglutarate + CO2 + NADH.",
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{
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"database": "UniProtKB",
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]
},
{
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{
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"database": "UniProtKB",
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]
}
]
},
{
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{
"ec_number": "1.2.1.36",
"activity": "H2O + NAD(+) + retinal = 2 H(+) + NADH + retinoate.",
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{
"id": "P51647",
"database": "UniProtKB",
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}
]
},
{
"ec_number": "1.2.1.19",
"activity": "4-aminobutanal + H2O + NAD(+) = 4-aminobutanoate + 2 H(+) + NADH.",
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{
"id": "P51647",
"database": "UniProtKB",
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}
]
},
{
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{
"id": "P51647",
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]
},
{
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"activity": "benzaldehyde + H2O + NAD(+) = benzoate + 2 H(+) + NADH.",
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{
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]
},
{
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},
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{
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}
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}
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},
{
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}
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{
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]
},
{
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]
}
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{
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},
{
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}
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{
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{
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}
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{
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},
{
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]
}
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{
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]
},
{
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{
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]
},
{
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{
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},
{
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},
{
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]
}
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{
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{
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]
}
]
},
{
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{
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"activity": "",
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]
},
{
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},
{
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}
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{
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]
},
{
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}
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{
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]
},
{
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]
}
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{
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{
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]
},
{
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{
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]
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{
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]
},
{
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{
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]
}
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{
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]
},
{
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}
]
},
{
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]
},
{
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]
},
{
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]
},
{
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]
}
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{
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]
},
{
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{
"id": "Q64057",
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]
},
{
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{
"id": "Q64057",
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]
},
{
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{
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]
},
{
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]
}
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},
{
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{
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{
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}
]
},
{
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{
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]
}
]
},
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{
"ec_number": "1.2.1.5",
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{
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]
},
{
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]
},
{
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]
},
{
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]
},
{
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]
},
{
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{
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]
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]
},
{
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{
"ec_number": "6.2.1.4",
"activity": "CoA + GTP + succinate = GDP + phosphate + succinyl-CoA.",
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{
"id": "Q96I99",
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}
]
},
{
"ec_number": "6.2.1.4",
"activity": "",
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{
"id": "Q96I99",
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]
}
]
},
{
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{
"ec_number": "5.6.2.3",
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"id": "Q96RR1",
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]
},
{
"ec_number": "5.6.2.3",
"activity": "",
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{
"id": "Q96RR1",
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}
]
}
]
},
{
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{
"ec_number": "1.1.1.35",
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{
"id": "Q99714",
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}
]
},
{
"ec_number": "1.1.1.62",
"activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.",
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{
"id": "Q99714",
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}
]
},
{
"ec_number": "1.1.1.239",
"activity": "NAD(+) + testosterone = androst-4-ene-3,17-dione + H(+) + NADH.",
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{
"id": "Q99714",
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}
]
},
{
"ec_number": "1.1.1.178",
"activity": "(2S,3S)-3-hydroxy-2-methylbutanoyl-CoA + NAD(+) = 2-methyl-3-oxobutanoyl-CoA + H(+) + NADH.",
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{
"id": "Q99714",
"database": "UniProtKB",
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}
]
},
{
"ec_number": "1.1.1.53",
"activity": "5alpha-androstane-3alpha,17beta-diol + NAD(+) = 17beta-hydroxy-5alpha-androstan-3-one + H(+) + NADH.",
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{
"id": "Q99714",
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}
]
},
{
"ec_number": "1.1.1.159",
"activity": "cholate + NAD(+) = 3alpha,12alpha-dihydroxy-7-oxo-5beta-cholanate + H(+) + NADH.",
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{
"id": "Q99714",
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}
]
},
{
"ec_number": "1.1.1.35",
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{
"id": "Q99714",
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}
]
}
]
},
{
"uniprot_ac": "Q99798",
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{
"ec_number": "4.2.1.3",
"activity": "citrate = D-threo-isocitrate.",
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{
"id": "Q99798",
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}
]
},
{
"ec_number": "4.2.1.3",
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