{
"uniprot_canonical_ac": "P00918-1",
"uniprot_ac": "P00918",
"uniprot_id": "CAH2_HUMAN",
"mass": {
"chemical_mass": 29246.0,
"monoisotopic_mass": 29246.0
},
"refseq": {
"ac": "NP_000058",
"name": "carbonic anhydrase 2 isoform 1",
"summary": "The protein encoded by this gene is one of several isozymes of carbonic anhydrase, which catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000058"
},
"gene_names": [
{
"name": "CA2",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/P00918",
"id": "P00918"
},
{
"name": "CA-II; CAC; CAII; Car2; HEL-76; HEL-S-282",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000058",
"id": "NP_000058"
},
{
"name": "CA2",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000058",
"id": "NP_000058"
}
],
"protein_names": [
{
"name": "Carbonic anhydrase 2",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "P00918"
},
{
"name": "4.2.1.1",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P00918"
},
{
"name": "4.2.1.69",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P00918"
},
{
"name": "CA-II",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P00918"
},
{
"name": "CAC",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P00918"
},
{
"name": "Carbonate dehydratase II",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P00918"
},
{
"name": "Carbonic anhydrase C",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P00918"
},
{
"name": "Carbonic anhydrase II",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P00918"
},
{
"name": "Cyanamide hydratase CA2",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P00918"
},
{
"name": "carbonate dehydratase II; epididymis secretory protein Li 282; carbonic dehydratase; carbonic anhydrase B; carbonic anhydrase C; carbonic anhydrase II; epididymis luminal protein 76; cyanamide hydratase CA2",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000058",
"id": "NP_000058"
},
{
"name": "carbonic anhydrase 2 isoform 1",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000058",
"id": "NP_000058"
}
],
"function": [
{
"annotation": "Carbon Dioxide Sensing by Immune Cells Occurs through Carbonic Anhydrase 2-Dependent Changes in Intracellular pH.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000058",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000058"
},
{
"database": "PubMed",
"id": "35477686",
"url": "https://glygen.org/publication/PubMed/35477686"
}
]
},
{
"annotation": "Carbonic Anhydrases II and IX in Non-ampullary Duodenal Adenomas and Adenocarcinoma.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000058",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000058"
},
{
"database": "PubMed",
"id": "34636283",
"url": "https://glygen.org/publication/PubMed/34636283"
}
]
},
{
"annotation": "Carbonic anhydrase 2 and 3 as risk biomarkers for dilated cardiomyopathy associated heart failure.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000058",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000058"
},
{
"database": "PubMed",
"id": "35016406",
"url": "https://glygen.org/publication/PubMed/35016406"
}
]
},
{
"annotation": "Carbonic anhydrase II deficiency.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000058",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000058"
},
{
"database": "PubMed",
"id": "36709914",
"url": "https://glygen.org/publication/PubMed/36709914"
}
]
},
{
"annotation": "Catalyzes the reversible hydration of carbon dioxide (PubMed:1909891, PubMed:1910042, PubMed:1336460, PubMed:8485129, PubMed:8399159, PubMed:8218160, PubMed:8262987, PubMed:8451242, PubMed:7901850, PubMed:7761440, PubMed:8639494, PubMed:9265618, PubMed:17330962, PubMed:9398308, PubMed:11327835, PubMed:12056894, PubMed:17346964, PubMed:12171926, PubMed:15453828, PubMed:16214338, PubMed:15865431, PubMed:16106378, PubMed:15300855, PubMed:15667203, PubMed:18942852, PubMed:11831900, PubMed:17251017, PubMed:17314045, PubMed:18618712, PubMed:1336460, PubMed:11802772, PubMed:14736236, PubMed:16290146, PubMed:16759856, PubMed:16807956, PubMed:16686544, PubMed:17705204, PubMed:17127057, PubMed:17540563, PubMed:17588751, PubMed:18266323, PubMed:18024029, PubMed:18162396, PubMed:18374572, PubMed:18640037, PubMed:18481843, PubMed:19170619, PubMed:19186056, PubMed:19206230, PubMed:19778001, PubMed:19520834). Can also hydrate cyanamide to urea (PubMed:10550681, PubMed:11015219). Stimulates the chloride-bicarbonate exchange activity of SLC26A6 (PubMed:15990874). Essential for bone resorption and osteoclast differentiation (PubMed:15300855). Involved in the regulation of fluid secretion into the anterior chamber of the eye. Contributes to intracellular pH regulation in the duodenal upper villous epithelium during proton-coupled peptide absorption.",
"evidence": [
{
"database": "UniProtKB",
"id": "P00918",
"url": "https://www.uniprot.org/uniprot/P00918#function"
},
{
"database": "PubMed",
"id": "17705204",
"url": "https://glygen.org/publication/PubMed/17705204"
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{
"database": "PubMed",
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"url": "https://glygen.org/publication/PubMed/16214338"
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{
"database": "PubMed",
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"url": "https://glygen.org/publication/PubMed/16290146"
},
{
"database": "PubMed",
"id": "12056894",
"url": "https://glygen.org/publication/PubMed/12056894"
},
{
"database": "PubMed",
"id": "8218160",
"url": "https://glygen.org/publication/PubMed/8218160"
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{
"database": "PubMed",
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"url": "https://glygen.org/publication/PubMed/15990874"
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{
"database": "PubMed",
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"url": "https://glygen.org/publication/PubMed/9265618"
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{
"database": "PubMed",
"id": "11327835",
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{
"database": "PubMed",
"id": "17346964",
"url": "https://glygen.org/publication/PubMed/17346964"
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{
"database": "PubMed",
"id": "19520834",
"url": "https://glygen.org/publication/PubMed/19520834"
},
{
"database": "PubMed",
"id": "18942852",
"url": "https://glygen.org/publication/PubMed/18942852"
},
{
"database": "PubMed",
"id": "17588751",
"url": "https://glygen.org/publication/PubMed/17588751"
},
{
"database": "PubMed",
"id": "18266323",
"url": "https://glygen.org/publication/PubMed/18266323"
},
{
"database": "PubMed",
"id": "7761440",
"url": "https://glygen.org/publication/PubMed/7761440"
},
{
"database": "PubMed",
"id": "19186056",
"url": "https://glygen.org/publication/PubMed/19186056"
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{
"database": "PubMed",
"id": "16106378",
"url": "https://glygen.org/publication/PubMed/16106378"
},
{
"database": "PubMed",
"id": "1909891",
"url": "https://glygen.org/publication/PubMed/1909891"
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{
"database": "PubMed",
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"url": "https://glygen.org/publication/PubMed/18618712"
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{
"database": "PubMed",
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"url": "https://glygen.org/publication/PubMed/14736236"
},
{
"database": "PubMed",
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"url": "https://glygen.org/publication/PubMed/15865431"
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{
"database": "PubMed",
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"url": "https://glygen.org/publication/PubMed/9398308"
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{
"database": "PubMed",
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"url": "https://glygen.org/publication/PubMed/19170619"
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{
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{
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{
"database": "PubMed",
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"url": "https://glygen.org/publication/PubMed/1336460"
},
{
"database": "PubMed",
"id": "8451242",
"url": "https://glygen.org/publication/PubMed/8451242"
},
{
"database": "PubMed",
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"url": "https://glygen.org/publication/PubMed/18481843"
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{
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"url": "https://glygen.org/publication/PubMed/17314045"
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{
"database": "PubMed",
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"url": "https://glygen.org/publication/PubMed/19778001"
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{
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"url": "https://glygen.org/publication/PubMed/19206230"
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{
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"url": "https://glygen.org/publication/PubMed/7901850"
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{
"database": "PubMed",
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"url": "https://glygen.org/publication/PubMed/18374572"
},
{
"database": "PubMed",
"id": "18162396",
"url": "https://glygen.org/publication/PubMed/18162396"
},
{
"database": "PubMed",
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"url": "https://glygen.org/publication/PubMed/11831900"
},
{
"database": "PubMed",
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"url": "https://glygen.org/publication/PubMed/8485129"
},
{
"database": "PubMed",
"id": "17251017",
"url": "https://glygen.org/publication/PubMed/17251017"
},
{
"database": "PubMed",
"id": "18024029",
"url": "https://glygen.org/publication/PubMed/18024029"
},
{
"database": "PubMed",
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"url": "https://glygen.org/publication/PubMed/18640037"
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{
"database": "PubMed",
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"url": "https://glygen.org/publication/PubMed/11015219"
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{
"database": "PubMed",
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{
"database": "PubMed",
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"url": "https://glygen.org/publication/PubMed/15667203"
},
{
"database": "PubMed",
"id": "10550681",
"url": "https://glygen.org/publication/PubMed/10550681"
},
{
"database": "PubMed",
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"url": "https://glygen.org/publication/PubMed/17127057"
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{
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{
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{
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"url": "https://glygen.org/publication/PubMed/8639494"
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{
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"url": "https://glygen.org/publication/PubMed/8399159"
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{
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{
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]
},
{
"annotation": "The protein encoded by this gene is one of several isozymes of carbonic anhydrase, which catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000058",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000058"
}
]
},
{
"annotation": "Unlocking the Potential of the CA2, CA7, and ITM2C Gene Signatures for the Early Detection of Colorectal Cancer: A Comprehensive Analysis of RNA-Seq Data by Utilizing Machine Learning Algorithms. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000058",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000058"
},
{
"database": "PubMed",
"id": "37895185",
"url": "https://glygen.org/publication/PubMed/37895185"
}
]
}
],
"disease": [
{
"disease_id": "DOID:0110941",
"recommended_name": {
"id": "DOID:0110941",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0110941",
"name": "autosomal recessive osteopetrosis 3",
"description": "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21."
},
"synonyms": [
{
"id": "DOID:0110941",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0110941",
"name": "Guibaud-Vainsel syndrome",
"description": ""
},
{
"id": "DOID:0110941",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0110941",
"name": "OPTB3",
"description": ""
},
{
"id": "DOID:0110941",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0110941",
"name": "carbonic anhydrase II deficiency",
"description": ""
},
{
"id": "DOID:0110941",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0110941",
"name": "marble brain disease",
"description": ""
},
{
"id": "DOID:0110941",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0110941",
"name": "osteopetrosis with renal tubular acidosis",
"description": ""
},
{
"id": "DOID:0110941",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0110941",
"name": "autosomal recessive osteopetrosis 3 with renal tubular acidosis",
"description": ""
},
{
"id": "MONDO:0009818",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009818",
"name": "autosomal recessive osteopetrosis 3",
"description": "Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications."
},
{
"id": "MONDO:0009818",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009818",
"name": "Autosomal Recessive osteopetrosis, type 3",
"description": ""
},
{
"id": "MONDO:0009818",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009818",
"name": "CA2 osteopetrosis (disease)",
"description": ""
},
{
"id": "MONDO:0009818",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009818",
"name": "Guibaud-Vainsel syndrome",
"description": ""
},
{
"id": "MONDO:0009818",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009818",
"name": "OPTB3",
"description": ""
},
{
"id": "MONDO:0009818",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009818",
"name": "autosomal recessive osteopetrosis 3 with renal tubular acidosis",
"description": ""
},
{
"id": "MONDO:0009818",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009818",
"name": "autosomal recessive osteopetrosis type 3",
"description": ""
},
{
"id": "MONDO:0009818",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009818",
"name": "carbonic anhydrase 2 deficiency",
"description": ""
},
{
"id": "MONDO:0009818",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009818",
"name": "carbonic anhydrase II deficiency",
"description": ""
},
{
"id": "MONDO:0009818",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009818",
"name": "marble brain disease",
"description": ""
},
{
"id": "MONDO:0009818",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009818",
"name": "mixed RTA",
"description": ""
},
{
"id": "MONDO:0009818",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009818",
"name": "mixed renal tubular acidosis",
"description": ""
},
{
"id": "MONDO:0009818",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009818",
"name": "osteopetrosis (disease) caused by mutation in CA2",
"description": ""
},
{
"id": "MONDO:0009818",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009818",
"name": "osteopetrosis with renal tubular acidosis",
"description": ""
},
{
"id": "MONDO:0009818",
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"url": "https://monarchinitiative.org/disease/MONDO:0009818",
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},
{
"id": "MONDO:0009818",
"resource": "MONDO",
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"name": "osteopetrosis, autosomal recessive type 3",
"description": ""
},
{
"id": "MONDO:0009818",
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},
{
"id": "MONDO:0009818",
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"url": "https://monarchinitiative.org/disease/MONDO:0009818",
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},
{
"id": "MONDO:0009818",
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"url": "https://monarchinitiative.org/disease/MONDO:0009818",
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},
{
"id": "MONDO:0009818",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009818",
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"description": ""
},
{
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"resource": "MIM",
"url": "https://www.omim.org/entry/259730",
"name": "Osteopetrosis, autosomal recessive 3",
"description": "Osteopetrosis, autosomal recessive 3"
}
],
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}
],
"snv": [],
"mutagenesis": [
{
"start_pos": 106,
"end_pos": 106,
"sequence_org": "E",
"sequence_mut": "A",
"comment": "Strongly reduced CO(2) hydrase activity.",
"evidence": [
{
"database": "UniProtKB",
"id": "P00918",
"url": "https://www.uniprot.org/uniprot/P00918"
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{
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]
},
{
"start_pos": 106,
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"sequence_org": "E",
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"comment": "Normal CO(2) hydrase activity.",
"evidence": [
{
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"url": "https://www.uniprot.org/uniprot/P00918"
},
{
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{
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}
]
},
{
"start_pos": 106,
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"comment": "Strongly reduced CO(2) hydrase activity.",
"evidence": [
{
"database": "UniProtKB",
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},
{
"database": "PubMed",
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{
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}
]
},
{
"start_pos": 117,
"end_pos": 117,
"sequence_org": "E",
"sequence_mut": "Q",
"comment": "Strongly reduced activity and sulfonamide affinity.",
"evidence": [
{
"database": "UniProtKB",
"id": "P00918",
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"database": "UniProtKB",
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}
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{
"database": "UniProtKB",
"id": "P00918",
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{
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]
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{
"database": "UniProtKB",
"id": "P00918",
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{
"database": "PubMed",
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}
]
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{
"start_pos": 67,
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"evidence": [
{
"database": "UniProtKB",
"id": "P00918",
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"database": "PubMed",
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}
]
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"database": "UniProtKB",
"id": "P00918",
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"database": "UniProtKB",
"id": "P00918",
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"database": "PubMed",
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}
]
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{
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{
"id": "MONDO:0012597",
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{
"id": "MONDO:0012741",
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},
{
"id": "MONDO:0012741",
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{
"id": "MONDO:0012741",
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},
{
"id": "MONDO:0012244",
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"id": "MONDO:0012244",
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{
"id": "MONDO:0012244",
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"id": "MONDO:0012093",
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},
{
"id": "MONDO:0012093",
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"name": "prostate cancer, hereditary, type 3",
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},
{
"id": "MONDO:0012093",
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},
{
"id": "MONDO:0012093",
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"name": "HPC3",
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},
{
"id": "MONDO:0012094",
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},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
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"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, type 4",
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},
{
"id": "MONDO:0012094",
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"name": "prostate cancer, susceptibility to, 4",
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},
{
"id": "MONDO:0012094",
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"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "HPC4",
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},
{
"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": "P00918",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00918"
}
],
"disease": [
{
"disease_id": "DOID:10534",
"recommended_name": {
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "stomach cancer",
"description": "A gastrointestinal system cancer that is located_in the stomach."
},
"synonyms": [
{
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "gastric cancer",
"description": ""
},
{
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": "A primary or metastatic malignant neoplasm involving the stomach."
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca lesser curvature - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "cancer of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer risk after h. pylori infection",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumor",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumour",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant stomach neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of greater curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of greater curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "stomach cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca body - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "ca greater curvature of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, intestinal",
"description": ""
},
{
"id": "MIM:613659",
"resource": "MIM",
"url": "https://www.omim.org/entry/613659",
"name": "Gastric cancer",
"description": "Gastric cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Urinary bladder cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11054",
"evidence": [
{
"database": "BioXpress",
"id": "P00918",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00918"
}
],
"disease": [
{
"disease_id": "DOID:11054",
"recommended_name": {
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
"name": "urinary bladder cancer",
"description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder."
},
"synonyms": [
{
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
"name": "bladder cancer",
"description": ""
},
{
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": "A primary or metastatic malignant neoplasm involving the bladder."
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "bladder cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "cancer of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumour",
"description": ""
},
{
"id": "MIM:109800",
"resource": "MIM",
"url": "https://www.omim.org/entry/109800",
"name": "Bladder cancer",
"description": "Bladder cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Head and neck cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11934",
"evidence": [
{
"database": "BioXpress",
"id": "P00918",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00918"
}
],
"disease": [
{
"disease_id": "DOID:11934",
"recommended_name": {
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck cancer",
"description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx."
},
"synonyms": [
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck tumours",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head/neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "tumor of head and neck",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Lung cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1324",
"evidence": [
{
"database": "BioXpress",
"id": "P00918",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00918"
}
],
"disease": [
{
"disease_id": "DOID:1324",
"recommended_name": {
"id": "DOID:1324",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1324",
"name": "lung cancer",
"description": "A respiratory system cancer that is located_in the lung."
},
"synonyms": [
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "LNCR1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "LNCR3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "adenocarcinoma of lung, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "LNCR4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "LNCR5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": "A malignant neoplasm involving the lung."
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "cancer of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung neoplasm",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumor",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumour",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "Nonsmall cell lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "alveolar cell carcinoma",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung neoplasm",
"description": ""
},
{
"id": "MIM:211980",
"resource": "MIM",
"url": "https://www.omim.org/entry/211980",
"name": "Lung cancer",
"description": "Lung cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Breast cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1612",
"evidence": [
{
"database": "BioXpress",
"id": "P00918",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00918"
}
],
"disease": [
{
"disease_id": "DOID:1612",
"recommended_name": {
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast cancer",
"description": "A thoracic cancer that originates in the mammary gland."
},
"synonyms": [
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant neoplasm of breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant tumor of the breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary cancer",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "primary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, lobular, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of the breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial Male",
"description": ""
},
{
"id": "MIM:114480",
"resource": "MIM",
"url": "https://www.omim.org/entry/114480",
"name": "Breast cancer",
"description": "Breast cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Thyroid cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1781",
"evidence": [
{
"database": "BioXpress",
"id": "P00918",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00918"
}
],
"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": "P00918",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00918"
}
],
"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": "P00918",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00918"
}
],
"disease": [
{
"disease_id": "DOID:3571",
"recommended_name": {
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "liver cancer",
"description": "A hepatobiliary system cancer that is located_in the liver."
},
"synonyms": [
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Ca liver - primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Resectable malignant neoplasm of Liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant hepato-biliary neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant tumor of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "non-resectable primary hepatic malignant neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary liver cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "resectable malignant neoplasm of the liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, not specified as primary or secondary",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Uterine cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:363",
"evidence": [
{
"database": "BioXpress",
"id": "P00918",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00918"
}
],
"disease": [
{
"disease_id": "DOID:363",
"recommended_name": {
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine cancer",
"description": "A female reproductive organ cancer that is located_in the uterus."
},
"synonyms": [
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "CA - cancer of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "Tumour of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterus neoplasm",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Esophageal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:5041",
"evidence": [
{
"database": "BioXpress",
"id": "P00918",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00918"
}
],
"disease": [
{
"disease_id": "DOID:5041",
"recommended_name": {
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophageal cancer",
"description": "A gastrointestinal system cancer that is located_in the esophagus."
},
"synonyms": [
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophagus cancer",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Distal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Proximal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of abdominal esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of the middle Third of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": "A primary or metastatic malignant neoplasm involving the esophagus."
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "oesophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca lower third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of distal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of lower third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of proximal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of upper third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of abdominal esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of distal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of proximal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of the middle third of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of abdominal oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of distal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of proximal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of the middle third of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Aerodigestive tract cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Escc, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "gastric cardia adenocarcinoma, susceptibility to",
"description": ""
},
{
"id": "MIM:133239",
"resource": "MIM",
"url": "https://www.omim.org/entry/133239",
"name": "Esophageal cancer",
"description": "Esophageal cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Colorectal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:9256",
"evidence": [
{
"database": "BioXpress",
"id": "P00918",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00918"
}
],
"disease": [
{
"disease_id": "DOID:9256",
"recommended_name": {
"id": "DOID:9256",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9256",
"name": "colorectal cancer",
"description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
},
"synonyms": [
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
"description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of colorectum",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, advanced, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer with chromosomal instability, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, autosomal dominant, somatic mutation",
"description": ""
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"organism": "Mus musculus",
"sequence": {
"sequence": "MSHHWGYSKHNGPENWHKDFPIANGDRQSPVDIDTATAQHDPALQPLLISYDKAASKSIVNNGHSFNVEFDDSQDNAVLKGGPLSDSYRLIQFHFHWGSSDGQGSEHTVNKKKYAAELHLVHWNTKYGDFGKAVQQPDGLAVLGIFLKIGPASQGLQKVLEALHSIKTKGKRAAFANFDPCSLLPGNLDYWTYPGSLTTPPLLECVTWIVLREPITVSSEQMSHFRTLNFNEEGDAEEAMVDNWRPAQPLKNRKIKASFK",
"length": 260
},
"evidence": [
{
"id": "45922313",
"url": "http://www.informatics.jax.org/homology/45922313",
"database": "MGI"
},
{
"id": "P00918",
"url": "https://omabrowser.org/oma/group/P00918/",
"database": "OMA"
}
],
"common_name": "Mouse"
},
{
"uniprot_canonical_ac": "P27139-1",
"protein_name": "Carbonic anhydrase 2",
"gene_name": "Ca2",
"tax_id": 10116,
"organism": "Rattus norvegicus",
"sequence": {
"sequence": "MSHHWGYSKSNGPENWHKEFPIANGDRQSPVDIDTGTAQHDPSLQPLLICYDKVASKSIVNNGHSFNVEFDDSQDFAVLKEGPLSGSYRLIQFHFHWGSSDGQGSEHTVNKKKYAAELHLVHWNTKYGDFGKAVQHPDGLAVLGIFLKIGPASQGLQKITEALHSIKTKGKRAAFANFDPCSLLPGNLDYWTYPGSLTTPPLLECVTWIVLKEPITVSSEQMSHFRKLNFNSEGEAEELMVDNWRPAQPLKNRKIKASFK",
"length": 260
},
"evidence": [
{
"id": "45922313",
"url": "http://www.informatics.jax.org/homology/45922313",
"database": "MGI"
}
],
"common_name": "Rat"
}
],
"go_annotation": {
"categories": [
{
"name": "Molecular Function",
"total": 4,
"go_terms": [
{
"name": "zinc ion binding",
"id": "GO:0008270",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270",
"evidence": [
{
"database": "UniProtKB",
"id": "P00918",
"url": "https://www.uniprot.org/uniprot/P00918"
}
],
"pmid": ""
},
{
"name": "carbonate dehydratase activity",
"id": "GO:0004089",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004089",
"evidence": [
{
"database": "UniProtKB",
"id": "P00918",
"url": "https://www.uniprot.org/uniprot/P00918"
}
],
"pmid": ""
},
{
"name": "arylesterase activity",
"id": "GO:0004064",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004064",
"evidence": [
{
"database": "UniProtKB",
"id": "P00918",
"url": "https://www.uniprot.org/uniprot/P00918"
}
],
"pmid": ""
},
{
"name": "cyanamide hydratase activity",
"id": "GO:0018820",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018820",
"evidence": [
{
"database": "UniProtKB",
"id": "P00918",
"url": "https://www.uniprot.org/uniprot/P00918"
}
],
"pmid": ""
}
]
},
{
"name": "Cellular Component",
"total": 6,
"go_terms": [
{
"name": "cytoplasm",
"id": "GO:0005737",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737",
"evidence": [
{
"database": "UniProtKB",
"id": "P00918",
"url": "https://www.uniprot.org/uniprot/P00918"
}
],
"pmid": ""
},
{
"name": "cytosol",
"id": "GO:0005829",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829",
"evidence": [
{
"database": "UniProtKB",
"id": "P00918",
"url": "https://www.uniprot.org/uniprot/P00918"
}
],
"pmid": ""
},
{
"name": "plasma membrane",
"id": "GO:0005886",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886",
"evidence": [
{
"database": "UniProtKB",
"id": "P00918",
"url": "https://www.uniprot.org/uniprot/P00918"
}
],
"pmid": ""
},
{
"name": "myelin sheath",
"id": "GO:0043209",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209",
"evidence": [
{
"database": "UniProtKB",
"id": "P00918",
"url": "https://www.uniprot.org/uniprot/P00918"
}
],
"pmid": ""
},
{
"name": "apical part of cell",
"id": "GO:0045177",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177",
"evidence": [
{
"database": "UniProtKB",
"id": "P00918",
"url": "https://www.uniprot.org/uniprot/P00918"
}
],
"pmid": ""
},
{
"name": "extracellular exosome",
"id": "GO:0070062",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062",
"evidence": [
{
"database": "UniProtKB",
"id": "P00918",
"url": "https://www.uniprot.org/uniprot/P00918"
}
],
"pmid": ""
}
]
},
{
"name": "Biological Process",
"total": 12,
"go_terms": [
{
"name": "neuron cellular homeostasis",
"id": "GO:0070050",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070050",
"evidence": [
{
"database": "UniProtKB",
"id": "P00918",
"url": "https://www.uniprot.org/uniprot/P00918"
}
],
"pmid": ""
},
{
"name": "positive regulation of synaptic transmission, GABAergic",
"id": "GO:0032230",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032230",
"evidence": [
{
"database": "UniProtKB",
"id": "P00918",
"url": "https://www.uniprot.org/uniprot/P00918"
}
],
"pmid": ""
},
{
"name": "angiotensin-activated signaling pathway",
"id": "GO:0038166",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038166",
"evidence": [
{
"database": "UniProtKB",
"id": "P00918",
"url": "https://www.uniprot.org/uniprot/P00918"
}
],
"pmid": ""
},
{
"name": "one-carbon metabolic process",
"id": "GO:0006730",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006730",
"evidence": [
{
"database": "UniProtKB",
"id": "P00918",
"url": "https://www.uniprot.org/uniprot/P00918"
}
],
"pmid": ""
},
{
"name": "carbon dioxide transport",
"id": "GO:0015670",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015670",
"evidence": [
{
"database": "UniProtKB",
"id": "P00918",
"url": "https://www.uniprot.org/uniprot/P00918"
}
],
"pmid": ""
},
{
"name": "regulation of intracellular pH",
"id": "GO:0051453",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051453",
"evidence": [
{
"database": "UniProtKB",
"id": "P00918",
"url": "https://www.uniprot.org/uniprot/P00918"
}
],
"pmid": ""
},
{
"name": "morphogenesis of an epithelium",
"id": "GO:0002009",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002009",
"evidence": [
{
"database": "UniProtKB",
"id": "P00918",
"url": "https://www.uniprot.org/uniprot/P00918"
}
],
"pmid": ""
},
{
"name": "positive regulation of cellular pH reduction",
"id": "GO:0032849",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032849",
"evidence": [
{
"database": "UniProtKB",
"id": "P00918",
"url": "https://www.uniprot.org/uniprot/P00918"
}
],
"pmid": ""
},
{
"name": "regulation of monoatomic anion transport",
"id": "GO:0044070",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044070",
"evidence": [
{
"database": "UniProtKB",
"id": "P00918",
"url": "https://www.uniprot.org/uniprot/P00918"
}
],
"pmid": ""
},
{
"name": "secretion",
"id": "GO:0046903",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046903",
"evidence": [
{
"database": "UniProtKB",
"id": "P00918",
"url": "https://www.uniprot.org/uniprot/P00918"
}
],
"pmid": ""
},
{
"name": "positive regulation of dipeptide transmembrane transport",
"id": "GO:2001150",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001150",
"evidence": [
{
"database": "UniProtKB",
"id": "P00918",
"url": "https://www.uniprot.org/uniprot/P00918"
}
],
"pmid": ""
},
{
"name": "regulation of chloride transport",
"id": "GO:2001225",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001225",
"evidence": [
{
"database": "UniProtKB",
"id": "P00918",
"url": "https://www.uniprot.org/uniprot/P00918"
}
],
"pmid": ""
}
]
}
]
},
"pro_annotation": [],
"site_annotation": [],
"ptm_annotation": [],
"interactions": [],
"reactions": [
{
"id": "10748",
"name": "",
"equation": "H(+) + hydrogencarbonate = CO2 + H2O",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"B0BNN3-1",
"Q66HG6-1",
"P43165-1",
"P14141-1",
"P27139-1",
"P48284-1",
"F1LQ08-1",
"B5DFG6-1",
"F7FL00-1",
"F7FAJ9-1",
"A0A8I6AP85-1",
"A6JXV1-1",
"P43166-1",
"Q9ULX7-1",
"P23280-1",
"Q9Y2D0-1",
"Q8N1Q1-1",
"P00918-1",
"P07451-1",
"P35218-1",
"O43570-1",
"Q16790-1",
"P22748-1",
"P00915-1",
"Q64444-1",
"Q9QZA0-1",
"P18761-1",
"Q99N23-1",
"Q9ERQ8-1",
"Q8VHB5-1",
"P23589-1",
"Q8CI85-1",
"Q9WVT6-1",
"P13634-1",
"P00920-1",
"P16015-1",
"Q9D6N1-1",
"P53615-1",
"Q555A3-1",
"Q55BU2-1",
"Q9V9Y6-1",
"Q9VHJ5-1",
"Q9V9Y8-1",
"A0A0B4LHX0-1",
"Q9VH26-1",
"Q8IMV4-1",
"Q9VB76-1",
"Q4V4S9-1",
"Q9V396-1"
],
"evidence": [
{
"id": "10748",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/10748"
}
]
},
{
"id": "23056",
"name": "",
"equation": "urea = cyanamide + H2O",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"B0BNN3-1",
"P27139-1",
"P00918-1",
"P00915-1",
"P00920-1",
"P13634-1",
"P0CH63-1",
"P0CH64-1"
],
"evidence": [
{
"id": "23056",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/23056"
}
]
},
{
"id": "R-HSA-1475022",
"name": "Carbonic anhydrase dehydrates bicarbonate (cytosol)",
"equation": "",
"summary": "Carbonic anhydrase I (CA1, Khalifah 1971, Simonsson et al. 1982, Ren and Lindskog 1992), carbonic anyhydrase II (CA2, Tibell et al. 1984, Jones and Shaw 1983, Pesando 1975, Ghannam et al. 1986), carbonic anhydrase III (CA3, Carter et al. 1979, Tu et al. 1990, Tu et al. 1994, Tu et al. 1998, Silverman et al. 1993), carbonic anhydrase VII (CA7, Bootorabi et al. 2010, Gitto et al. 2010) dehydrate cytosolic bicarbonate to yield water and carbon dioxide (reviewed in Lindskog 1997). Depending on the concentrations of reactants the reaction is reversible.
CA2 and CA7 have high catalytic activity, CA1 has low activity (10% of the activity of CA2), and CA3 has very low activity (1% of the activity of CA2). CA1 and CA2 are found in erythrocytes. CA2 is also found in kidney, lung, and white muscle where it facilitates diffusion of carbon dioxide. CA3 is found in red muscle where it participates in resistance against oxidative stress.",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P00915-1",
"P07451-1",
"P43166-1",
"Q8N1Q1-1",
"P00918-1"
],
"evidence": [
{
"id": "R-HSA-1475022",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1475022"
}
]
},
{
"id": "R-HSA-1475026",
"name": "Carbonic anhydrase hydrates carbon dioxide (cytosol)",
"equation": "",
"summary": "Carbonic anhydrase I (CA1, Khalifah 1971, Simonsson et al. 1982, Ren and Lindskog 1992), carbonic anyhydrase II (CA2, Tibell et al. 1984, Jones and Shaw 1983, Pesando 1975, Ghannam et al. 1986), carbonic anhydrase III (CA3, Carter et al. 1979, Tu et al. 1990, Tu et al. 1994, Tu et al. 1998, Silverman et al. 1993), carbonic anhydrase VII (CA7, Bootorabi et al. 2010, Gitto et al. 2010) hydrate carbon dioxide to yield bicarbonate and a proton. Carbonic anhydrase deprotonates water to yield a zinc-hydroxyl group and a proton which is transferred to external buffer molecules via histidine or glutamate residues in carbonic anhydrase. The hydroxyl group reacts with carbon dioxide in the active site to yield bicarbonate. A water molecule displaces the bicarbonate and the reaction cycle begins again (reviewed in Lindskog 1997). Depending on the concentrations of reactants the reaction is reversible.
CA2 and CA7 have high catalytic activity, CA1 has low activity (10% of the activity of CA2), and CA3 has very low activity (1% of the activity of CA2). CA1 and CA2 are found in erythrocytes. CA2 is also found in kidney, lung, and white muscle where it facilitates diffusion of carbon dioxide. CA3 is found in red muscle where it participates in resistance against oxidative stress.",
"cellular_location": "cytosol",
"input_participant_list": [
"R-ALL-113528"
],
"output_participant_list": [],
"enzyme_list": [
"P00915-1",
"P07451-1",
"P43166-1",
"Q8N1Q1-1",
"P00918-1"
],
"evidence": [
{
"id": "R-HSA-1475026",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1475026"
}
]
},
{
"id": "R-HSA-1475435",
"name": "CA1:Zn2+,CA2:Zn2+ hydrate CO2 to HCO3-",
"equation": "",
"summary": "Carbonic anhydrase I (CA1, Khalifah 1971, Pesando 1975, Simonsson et al. 1982, Ren & Lindskog 1992) and carbonic anhydrase II (CA2, Tibell et al. 1984, Jones & Shaw 1983, Ghannam et al. 1986) hydrate carbon dioxide (CO2) to yield bicarbonate (HCO3-) and a proton (H+). During the reaction a hydroxyl group bound by the zinc ion (Zn2+) attacks the CO2 molecule in the active site to directly form HCO3- (reviewed in Lindskog 1997). The HCO3- is displaced by water, which is then deprotonated by a histidine residue to recreate the Zn2+:hydroxyl group. Depending on the concentrations of reactants the reaction is reversible.",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P00915-1",
"P00918-1"
],
"evidence": [
{
"id": "R-HSA-1475435",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1475435"
}
]
},
{
"id": "R-HSA-1475436",
"name": "CA1:Zn2+,CA2:Zn2+ dehydrate HCO3- to CO2",
"equation": "",
"summary": "Carbonic anhydrase I (CA1, Khalifah 1971, Pesando 1975, Simonsson et al. 1982, Ren & Lindskog 1992) and carbonic anhydrase II (CA2, Tibell et al. 1984, Jones & Shaw 1983, Ghannam et al. 1986) hydrate carbon dioxide (CO2) to yield bicarbonate (HCO3-) and a proton (H+). During the reaction a hydroxyl group bound by the zinc ion (Zn2+) attacks the CO2 molecule in the active site to directly form HCO3- (reviewed in Lindskog 1997). The HCO3- is displaced by water, which is then deprotonated by a histidine residue to recreate the Zn2+:hydroxyl group. Depending on the concentrations of reactants the reaction is reversible.",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P00915-1",
"P00918-1"
],
"evidence": [
{
"id": "R-HSA-1475436",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1475436"
}
]
},
{
"id": "R-HSA-9707419",
"name": "CA1:Zn2+,CA2:Zn2+ bind CA inhibitors",
"equation": "",
"summary": "Erythrocytes take up oxygen and release carbon dioxide in the capillaries of the lung. In other tissues of the body the reverse reaction occurs; erythrocytes take up carbon dioxide from and deliver oxygen to cells. Carbonic anhydrases (CAs) are metalloenzymes that catalyze the interconversion between carbon dioxide (CO2) and water (H2O) and the dissociated ions of carbonic acid, i.e. bicarbonate (HCO3-) and protons (H+). The active site of most CAs contains a zinc ion. CAs maintain acid-base balance and help transport carbon dioxide. Depending on the concentrations of reactants, the reaction is reversible.
Carbonic anhydrase inhibitors have been developed to treat glaucoma via their effect on reducing intraocular pressure and decreasing aqueous humor and in managing seizures in various epileptic conditions (Supuran et al. 2003). In the ocular ciliary processes, the local production of bicarbonate by CAs promotes sodium and fluid transport. CA2 is a key isoenzyme found primarily in red blood cells (RBCs) that regulates aqueous humour production (Balfour et al. 1997, Hasegawa et al. 1994). The inhibition of CA2 in the ciliary process disrupts the formation of bicarbonate ions and reduces sodium and fluid transport, which leads to decreased aqueous humour secretion and reduced intraocular pressure (Sugrue 1996, Sugrue 2000, Iester 2008). Brinzolamide, dorzolamide, diclofenamide, ethoxzolamide and methazolamide are topical carbonic anhydrase (CA) inhibitors that treats elevated intraocular pressure (IOP) associated with open-angle glaucoma and ocular hypertension (Mincione et al. 2008).
Acetazolamide, toprimate, sultiame and zonisamide are effective in the treatment of most types of seizures, including generalized tonic-clonic and focal seizures and absence seizures (Hamidi & Avoli 2015, Aggarwal et al. 2013). They are thought to reduce seizures through the inhibition of CA, thereby increasing CO2 levels in the brain.",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P00915-1",
"P00918-1"
],
"evidence": [
{
"id": "R-HSA-9707419",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9707419"
}
]
}
],
"reaction_participants": [
{
"participant_id": "R-ALL-113528",
"participant_name": "CO2 [cytosol]",
"crossref": [
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"database": "COMPOUND",
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},
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],
"reaction_enzymes": [
{
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"gene_name": "CAH16",
"activity": [
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"activity": "H(+) + hydrogencarbonate = CO2 + H2O.",
"evidence": [
{
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"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A0B4LHX0"
}
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"activity": "",
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"url": "https://www.uniprot.org/uniprot/A0A0B4LHX0"
}
]
}
]
},
{
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"gene_name": "AABR07063126.1",
"activity": [
{
"ec_number": "4.2.1.1",
"activity": "H(+) + hydrogencarbonate = CO2 + H2O.",
"evidence": [
{
"id": "A0A8I6AP85",
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