{ "uniprot_canonical_ac": "P00439-1", "uniprot_ac": "P00439", "uniprot_id": "PH4H_HUMAN", "mass": { "chemical_mass": 51862.0, "monoisotopic_mass": 51862.0 }, "refseq": { "ac": "NP_000268", "name": "phenylalanine-4-hydroxylase", "summary": "This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase protein family. The encoded phenylalanine hydroxylase enzyme hydroxylates phenylalanine to tyrosine and is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Aug 2017].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000268" }, "gene_names": [ { "name": "PAH", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P00439", "id": "P00439" }, { "name": "PAH", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000268", "id": "NP_000268" }, { "name": "PH; PKU; PKU1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000268", "id": "NP_000268" } ], "protein_names": [ { "name": "Phenylalanine-4-hydroxylase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P00439" }, { "name": "1.14.16.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00439" }, { "name": "PAH", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00439" }, { "name": "Phe-4-monooxygenase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00439" }, { "name": "phenylalanine 4-monooxygenase; phe-4-monooxygenase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000268", "id": "NP_000268" }, { "name": "phenylalanine-4-hydroxylase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000268", "id": "NP_000268" } ], "function": [ { "annotation": "Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine.", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439#function" }, { "database": "PubMed", "id": "18835579", "url": "https://glygen.org/publication/PubMed/18835579" }, { "database": "PubMed", "id": "18460651", "url": "https://glygen.org/publication/PubMed/18460651" } ] }, { "annotation": "Identification of Variants Underlying Phenylalanine Hydroxylase Deficiency in Saudi Arabia.", "evidence": [ { "database": "RefSeq", "id": "NP_000268", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000268" }, { "database": "PubMed", "id": "37257178", "url": "https://glygen.org/publication/PubMed/37257178" } ] }, { "annotation": "Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000268", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000268" }, { "database": "PubMed", "id": "37237386", "url": "https://glygen.org/publication/PubMed/37237386" } ] }, { "annotation": "Mutation Characteristics of Phenylalanine Hydroxylase Gene in Children with Phenylketonuria in Yinchuan City.", "evidence": [ { "database": "RefSeq", "id": "NP_000268", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000268" }, { "database": "PubMed", "id": "37553307", "url": "https://glygen.org/publication/PubMed/37553307" } ] }, { "annotation": "The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000268", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000268" }, { "database": "PubMed", "id": "37098607", "url": "https://glygen.org/publication/PubMed/37098607" } ] }, { "annotation": "This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase protein family. The encoded phenylalanine hydroxylase enzyme hydroxylates phenylalanine to tyrosine and is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Aug 2017].", "evidence": [ { "database": "RefSeq", "id": "NP_000268", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000268" } ] } ], "disease": [ { "disease_id": "DOID:9281", "recommended_name": { "id": "DOID:9281", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9281", "name": "phenylketonuria", "description": "An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional." }, "synonyms": [ { "id": "DOID:9281", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9281", "name": "Folling's disease", "description": "" }, { "id": "DOID:9281", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9281", "name": "PKU", "description": "" }, { "id": "DOID:9281", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9281", "name": "maternal phenylketonuria", "description": "" }, { "id": "DOID:9281", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9281", "name": "phenylalaninemia", "description": "" }, { "id": "MONDO:0009861", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009861", "name": "phenylketonuria", "description": "Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients." }, { "id": "MONDO:0009861", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009861", "name": "PAH deficiency", "description": "" }, { "id": "MONDO:0009861", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009861", "name": "PKU", "description": "" }, { "id": "MONDO:0009861", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009861", "name": "hyperphenylalaninemia, non-PKU mild", "description": "" }, { "id": "MONDO:0009861", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009861", "name": "phenylalanine hydroxylase deficiency", "description": "" }, { "id": "MONDO:0009861", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009861", "name": "phenylalaninemia", "description": "" }, { "id": "MONDO:0009861", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009861", "name": "phenylketonuria", "description": "" }, { "id": "MONDO:0009861", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009861", "name": "HPA, non-PKU mild", "description": "" }, { "id": "MONDO:0009861", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009861", "name": "imbecilitus phenylpyruvica", "description": "" }, { "id": "MONDO:0009861", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009861", "name": "oligophrenia Phenylpyruvica", "description": "" }, { "id": "MONDO:0009861", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009861", "name": "oligophrenia phenylpyruvica", "description": "" }, { "id": "MONDO:0009861", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009861", "name": "phenylketonuria, maternal", "description": "" }, { "id": "MONDO:0009861", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009861", "name": "phenylpyruvic oligophrenia", "description": "" }, { "id": "MIM:261600", "resource": "MIM", "url": "https://www.omim.org/entry/261600", "name": "Hyperphenylalaninemia", "description": "Hyperphenylalaninemia" } ], "evidence": [ { "id": "261600", "database": "MIM", "url": "https://www.omim.org/entry/261600" } ] } ], "snv": [ { "evidence": [ { "id": "P00439", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P00439" } ], "glycoeffect": [], "start_pos": 111, "end_pos": 111, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "102894755", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R111", "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" } ] }, { "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": "" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P00439", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P00439" } ], "glycoeffect": [], "start_pos": 158, "end_pos": 158, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "102866632", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R158", "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": "" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ] }, { "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 283, "end_pos": 283, "sequence_org": "I", "sequence_mut": "C", "comment": "Loss of positive cooperativity and reduction of fold-activation by L-Phe preincubation.", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" }, { "database": "PubMed", "id": "18835579", "url": "https://glygen.org/publication/PubMed/18835579" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "94.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171759", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171759" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000171759", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171759" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "27.66", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000171759", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171759" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171759", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171759" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "59.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171759", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171759" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "47.52", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000171759", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171759" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171759", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171759" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "54.36", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171759", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171759" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "57.01", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171759", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171759" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171759", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171759" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "99.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171759", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171759" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "65.15", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171759", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171759" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "55.07", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171759", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171759" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P00439", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00439" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P00439", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00439" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P00439", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00439" } ], "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": "P00439", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00439" } ], "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": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P00439", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00439" } ], "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": "P00439", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00439" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P00439", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00439" } ], "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": "P00439", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00439" } ], "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": "P00439", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00439" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P00439", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00439" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P00439", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00439" } ], "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": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P00439", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00439" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "common_name": "Human" } ], "gene": [ { "name": "PAH", "url": "https://www.uniprot.org/uniprot/P00439", "locus": { "chromosome": "12", "start_pos": 102836889, "end_pos": 102958410, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000171759", "url": "https://www.ensembl.org/id/ENSG00000171759" } ] } } ], "crossref": [ { "id": "ENSG00000171759", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171759", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P00439", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P00439", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "1.14.16.1", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=1.14.16.1&UniProtAcc=P00439", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd03347", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd03347", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd04931", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd04931", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL3076", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL3076", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "PAH", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAH", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "5053", "url": "https://www.ncbi.nlm.nih.gov/gene/5053", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "8582", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=8582", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P00439", "url": "https://www.ebi.ac.uk/intact/interactors/id:P00439*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001273", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001273", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002912", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002912", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR005961", "url": "https://www.ebi.ac.uk/interpro/entry/IPR005961", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018301", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018301", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR019773", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019773", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR019774", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019774", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036329", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036329", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036951", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036951", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR041912", "url": "https://www.ebi.ac.uk/interpro/entry/IPR041912", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR045865", "url": "https://www.ebi.ac.uk/interpro/entry/IPR045865", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:5053", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5053", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "261600", "url": "http://www.omim.org/entry/261600", "database": "MIM", "categories": [ "Other" ] }, { "id": "612349", "url": "http://www.omim.org/entry/612349", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P00439", "url": "https://www.nextprot.org/entry/NX_P00439", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "HAAQPLY", "url": "https://omabrowser.org/oma/group/HAAQPLY/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "275463at2759", "url": "http://www.orthodb.org/?query=275463at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11473", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11473", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11473:SF24", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11473:SF24", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1DMW", "url": "https://www.rcsb.org/structure/1DMW", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1J8T", "url": "https://www.rcsb.org/structure/1J8T", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1J8U", "url": "https://www.rcsb.org/structure/1J8U", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1KW0", "url": "https://www.rcsb.org/structure/1KW0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1LRM", "url": "https://www.rcsb.org/structure/1LRM", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1MMK", "url": "https://www.rcsb.org/structure/1MMK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1MMT", "url": "https://www.rcsb.org/structure/1MMT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1PAH", "url": "https://www.rcsb.org/structure/1PAH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1TDW", "url": "https://www.rcsb.org/structure/1TDW", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1TG2", "url": "https://www.rcsb.org/structure/1TG2", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2PAH", "url": "https://www.rcsb.org/structure/2PAH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3PAH", "url": "https://www.rcsb.org/structure/3PAH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4ANP", "url": "https://www.rcsb.org/structure/4ANP", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4PAH", "url": "https://www.rcsb.org/structure/4PAH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5FII", "url": "https://www.rcsb.org/structure/5FII", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5PAH", "url": "https://www.rcsb.org/structure/5PAH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6HPO", "url": "https://www.rcsb.org/structure/6HPO", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6HYC", "url": "https://www.rcsb.org/structure/6HYC", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6N1K", "url": "https://www.rcsb.org/structure/6N1K", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6PAH", "url": "https://www.rcsb.org/structure/6PAH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00351", "url": "http://pfam.xfam.org/family/PF00351", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01842", "url": "http://pfam.xfam.org/family/PF01842", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P00439", "url": "https://pharos.nih.gov/targets/P00439", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P00439", "url": "http://purl.obolibrary.org/obo/PR_P00439", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-2160456", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2160456", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8964208", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964208", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000268", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000268", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "20273", "url": "https://www.rhea-db.org/rhea/20273", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A0U1RQI3", "url": "https://www.uniprot.org/uniprot/A0A0U1RQI3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0U1RQI3-1", "url": "https://www.uniprot.org/uniprot/A0A0U1RQI3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0U1RQY4", "url": "https://www.uniprot.org/uniprot/A0A0U1RQY4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0U1RQY4-1", "url": "https://www.uniprot.org/uniprot/A0A0U1RQY4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W0A0", "url": "https://www.uniprot.org/uniprot/F8W0A0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W0A0-1", "url": "https://www.uniprot.org/uniprot/F8W0A0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W1D4", "url": "https://www.uniprot.org/uniprot/F8W1D4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W1D4-1", "url": "https://www.uniprot.org/uniprot/F8W1D4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KND8", "url": "https://www.uniprot.org/uniprot/J3KND8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KND8-1", "url": "https://www.uniprot.org/uniprot/J3KND8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P00439-1", "url": "https://www.uniprot.org/uniprot/P00439-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK", "length": 452, "header": "sp|P00439-1|PH4H_HUMAN Isoform 1 of Phenylalanine-4-hydroxylase OS=Homo sapiens OX=9606 GN=PAH PE=1 SV=1 CANONICAL=P00439-1" }, "isoforms": [ { "isoform_ac": "A0A0U1RQI3-1", "url": "", "sequence": { "sequence": "XENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPVSPWPVG", "length": 149, "header": "tr|A0A0U1RQI3-1|A0A0U1RQI3_HUMAN Computationally mapped isoform of phenylalanine 4-monooxygenase OS=Homo sapiens OX=9606 GN=PAH PE=1 SV=1 CANONICAL=P00439-1" }, "locus": { "chromosome": "12", "start_pos": 102917114, "end_pos": 102877440, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000550978.6", "url": "https://www.ensembl.org/id/ENST00000550978.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000489016.1", "url": "https://www.ensembl.org/id/ENSP00000489016.1" } ] } }, { "isoform_ac": "A0A0U1RQY4-1", "url": "", "sequence": { "sequence": "XPDICHELLGHVPLFSDRSFAQFSQIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEI", "length": 143, "header": "tr|A0A0U1RQY4-1|PH4H_HUMAN Computationally mapped isoform of Phenylalanine-4-hydroxylase OS=Homo sapiens OX=9606 GN=PAH PE=1 SV=2 CANONICAL=P00439-1" }, "locus": { "chromosome": "12", "start_pos": 102852817, "end_pos": 102839209, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000635477.1", "url": "https://www.ensembl.org/id/ENST00000635477.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000489230.1", "url": "https://www.ensembl.org/id/ENSP00000489230.1" } ] } }, { "isoform_ac": "F8W0A0-1", "url": "", "sequence": { "sequence": "MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQIL", "length": 136, "header": "tr|F8W0A0-1|PH4H_HUMAN Computationally mapped isoform of Phenylalanine-4-hydroxylase OS=Homo sapiens OX=9606 GN=PAH PE=1 SV=1 CANONICAL=P00439-1" }, "locus": { "chromosome": "12", "start_pos": 102917130, "end_pos": 102877495, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000551337.5", "url": "https://www.ensembl.org/id/ENST00000551337.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000447620.1", "url": "https://www.ensembl.org/id/ENSP00000447620.1" } ] } }, { "isoform_ac": "F8W1D4-1", "url": "", "sequence": { "sequence": "MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDT", "length": 117, "header": "tr|F8W1D4-1|PH4H_HUMAN Computationally mapped isoform of Phenylalanine-4-hydroxylase OS=Homo sapiens OX=9606 GN=PAH PE=1 SV=1 CANONICAL=P00439-1" }, "locus": { "chromosome": "12", "start_pos": 102917130, "end_pos": 102894736, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000546844.1", "url": "https://www.ensembl.org/id/ENST00000546844.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000446658.1", "url": "https://www.ensembl.org/id/ENSP00000446658.1" } ] } }, { "isoform_ac": "J3KND8-1", "url": "", "sequence": { "sequence": "MSALTPTLVFCHMHVETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK", "length": 447, "header": "tr|J3KND8-1|PH4H_HUMAN Computationally mapped isoform of Phenylalanine-4-hydroxylase OS=Homo sapiens OX=9606 GN=PAH PE=1 SV=1 CANONICAL=P00439-1" }, "locus": { "chromosome": "12", "start_pos": 102913846, "end_pos": 102839178, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000307000.7", "url": "https://www.ensembl.org/id/ENST00000307000.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000303500.2", "url": "https://www.ensembl.org/id/ENSP00000303500.2" } ] } }, { "isoform_ac": "P00439-1", "url": "", "sequence": { "sequence": "MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK", "length": 452, "header": "sp|P00439-1|PH4H_HUMAN Isoform 1 of Phenylalanine-4-hydroxylase OS=Homo sapiens OX=9606 GN=PAH PE=1 SV=1 CANONICAL=P00439-1" }, "locus": { "chromosome": "12", "start_pos": 102917130, "end_pos": 102839178, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000553106.6", "url": "https://www.ensembl.org/id/ENST00000553106.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000448059.1", "url": "https://www.ensembl.org/id/ENSP00000448059.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 16, "end_pos": 16, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by PKA", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" }, { "database": "iPTMnet", "id": "P00439", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00439" }, { "database": "PubMed", "id": "2451499", "url": "" }, { "database": "phospho.ELM", "id": "P00439", "url": "http://phospho.elm.eu.org/byAccession/P00439.html" }, { "database": "PubMed", "id": "12185072", "url": "https://glygen.org/publication/PubMed/12185072" }, { "database": "PubMed", "id": "12554741", "url": "https://glygen.org/publication/PubMed/12554741" }, { "database": "PubMed", "id": "15096628", "url": "https://glygen.org/publication/PubMed/15096628" }, { "database": "PubMed", "id": "22005392", "url": "https://glygen.org/publication/PubMed/22005392" }, { "database": "PubMed", "id": "22371403", "url": "https://glygen.org/publication/PubMed/22371403" }, { "database": "PubMed", "id": "8573072", "url": "https://glygen.org/publication/PubMed/8573072" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ], "site_lbl": "Ser16" } ], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild phenylketonuria. Mutations in brief no. 143. Online.", "journal": "Human mutation", "date": "1998", "authors": "Mallolas J, Campistol J, Lambruschini N, Vilaseca MA, Cambra FJ, Estivill X, Mila M", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "10200057", "url": "https://glygen.org/publication/PubMed/10200057" } ] }, { "title": "Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations.", "journal": "Human mutation", "date": "2000", "authors": "Hennermann J B, Vetter B, Wolf C, Windt E, B\u00fchrdel P, Seidel J, M\u00f6nch E, Kulozik A E", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "10679941", "url": "https://glygen.org/publication/PubMed/10679941" } ] }, { "title": "Crystal structure and site-specific mutagenesis of pterin-bound human phenylalanine hydroxylase.", "journal": "Biochemistry", "date": "2000", "authors": "Erlandsen H, Bj\u00f8rgo E, Flatmark T, Stevens R C", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "10694386", "url": "https://glygen.org/publication/PubMed/10694386" } ] }, { "title": "Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria.", "journal": "Human mutation", "date": "2001-02", "authors": "Acosta A, Silva W, Carvalho T, Gomes M, Zago M", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "11180595", "url": "https://glygen.org/publication/PubMed/11180595" } ] }, { "title": "Missense mutations in the N-terminal domain of human phenylalanine hydroxylase interfere with binding of regulatory phenylalanine.", "journal": "Am. J. Hum. Genet.", "date": "2001", "authors": "Gjetting T, Petersen M, Guldberg P, G\u00fcttler F", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "11326337", "url": "https://glygen.org/publication/PubMed/11326337" } ] }, { "title": "Molecular analysis of phenylketonuria (PKU) in newborns from Texas.", "journal": "Human mutation", "date": "2001-06", "authors": "Yang Y, Drummond-Borg M, Garcia-Heras J", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "11385716", "url": "https://glygen.org/publication/PubMed/11385716" } ] }, { "title": "A phenylalanine hydroxylase amino acid polymorphism with implications for molecular diagnostics.", "journal": "Molecular genetics and metabolism", "date": "2001", "authors": "Gjetting T, Romstad A, Haavik J, Knappskog PM, Acosta AX, Silva WA Jr, Zago MA, Guldberg P, Guttler F", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "11461196", "url": "https://glygen.org/publication/PubMed/11461196" } ] }, { "title": "High resolution crystal structures of the catalytic domain of human phenylalanine hydroxylase in its catalytically active Fe(II) form and binary complex with tetrahydrobiopterin.", "journal": "J. Mol. Biol.", "date": "2001", "authors": "Andersen O A, Flatmark T, Hough E", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "11718561", "url": "https://glygen.org/publication/PubMed/11718561" } ] }, { "title": "Identification and characterization of a novel liver-specific enhancer of the human phenylalanine hydroxylase gene.", "journal": "Human genetics", "date": "2002", "authors": "Chen KJ, Chao HK, Hsiao KJ, Su TS", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "11935335", "url": "https://glygen.org/publication/PubMed/11935335" } ] }, { "title": "Phosphorylation and mutations of Ser(16) in human phenylalanine hydroxylase. Kinetic and structural effects.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Miranda FF, Teigen K, Thorolfsson M, Svebak RM, Knappskog PM, Flatmark T, Martinez A", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" }, { "database": "iPTMnet", "id": "P00439", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00439" } ], "reference": [ { "type": "PubMed", "id": "12185072", "url": "https://glygen.org/publication/PubMed/12185072" } ] }, { "title": "Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria.", "journal": "The New England journal of medicine", "date": "2002", "authors": "Muntau AC, Roschinger W, Habich M, Demmelmair H, Hoffmann B, Sommerhoff CP, Roscher AA", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "12501224", "url": "https://glygen.org/publication/PubMed/12501224" } ] }, { "title": "Deamidations in recombinant human phenylalanine hydroxylase. Identification of labile asparagine residues and functional characterization of Asn --> Asp mutant forms.", "journal": "The Journal of biological chemistry", "date": "2003-04-25", "authors": "Carvalho Raquel Negr\u00e3o, Solstad Therese, Bj\u00f8rgo Elisa, Barroso Jo\u00e3o Filipe, Flatmark Torgeir", "evidence": [ { "database": "iPTMnet", "id": "P00439", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00439" } ], "reference": [ { "type": "PubMed", "id": "12554741", "url": "https://glygen.org/publication/PubMed/12554741" } ] }, { "title": "Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene.", "journal": "Human mutation", "date": "1992", "authors": "Eisensmith R C, Woo S L", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "1301187", "url": "https://glygen.org/publication/PubMed/1301187" } ] }, { "title": "Identification of a missense phenylketonuria mutation at codon 408 in Chinese.", "journal": "Human genetics", "date": "1992", "authors": "Lin CH, Hsiao KJ, Tsai TF, Chao HK, Su TS", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "1355066", "url": "https://glygen.org/publication/PubMed/1355066" } ] }, { "title": "Molecular basis for nonphenylketonuria hyperphenylalaninemia.", "journal": "Genomics", "date": "1992", "authors": "Economou-Petersen E, Henriksen KF, Guldberg P, Guttler F", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "1358789", "url": "https://glygen.org/publication/PubMed/1358789" } ] }, { "title": "A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria.", "journal": "Human molecular genetics", "date": "1992", "authors": "Jaruzelska J, Melle D, Matuszak R, Borski K, Munnich A", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "1363837", "url": "https://glygen.org/publication/PubMed/1363837" } ] }, { "title": "A new PKU mutation associated with haplotype 12.", "journal": "Human molecular genetics", "date": "1992", "authors": "Desviat LR, Perez B, Ugarte M", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "1363838", "url": "https://glygen.org/publication/PubMed/1363838" } ] }, { "title": "Structural and stability effects of phosphorylation: Localized structural changes in phenylalanine hydroxylase.", "journal": "Protein science : a publication of the Protein Society", "date": "2004-05", "authors": "Miranda Frederico Faria, Th\u00f3r\u00f3lfsson Matth\u00edas, Teigen Knut, Sanchez-Ruiz Jose M, Mart\u00ednez Aurora", "evidence": [ { "database": "iPTMnet", "id": "P00439", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00439" } ], "reference": [ { "type": "PubMed", "id": "15096628", "url": "https://glygen.org/publication/PubMed/15096628" } ] }, { "title": "Crystal structure of human kynurenine aminotransferase I.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Rossi F, Han Q, Li J, Li J, Rizzi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964208", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964208" } ], "reference": [ { "type": "PubMed", "id": "15364907", "url": "https://glygen.org/publication/PubMed/15364907" } ] }, { "title": "Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation.", "journal": "American journal of human genetics", "date": "1991", "authors": "Dianzani I, Forrest SM, Camaschella C, Saglio G, Ponzone A, Cotton RG", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "1671810", "url": "https://glygen.org/publication/PubMed/1671810" } ] }, { "title": "Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria.", "journal": "Genomics", "date": "1991", "authors": "Dworniczak B, Grudda K, Stumper J, Bartholome K, Aulehla-Scholz C, Horst J", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "1672290", "url": "https://glygen.org/publication/PubMed/1672290" } ] }, { "title": "Phenylketonuria missense mutations in the Mediterranean.", "journal": "Genomics", "date": "1991", "authors": "Okano Y, Wang T, Eisensmith RC, Longhi R, Riva E, Giovannini M, Cerone R, Romano C, Woo SL", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "1672294", "url": "https://glygen.org/publication/PubMed/1672294" } ] }, { "title": "The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations.", "journal": "Hum. Genet.", "date": "1991", "authors": "Konecki D S, Lichter-Konecki U", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "1679029", "url": "https://glygen.org/publication/PubMed/1679029" } ] }, { "title": "The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria.", "journal": "Human genetics", "date": "1991", "authors": "Konecki DS, Schlotter M, Trefz FK, Lichter-Konecki U", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "1679030", "url": "https://glygen.org/publication/PubMed/1679030" } ] }, { "title": "A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Caillaud C, Lyonnet S, Rey F, Melle D, Frebourg T, Berthelon M, Vilarinho L, Vaz Osorio R, Rey J, Munnich A", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "1709636", "url": "https://glygen.org/publication/PubMed/1709636" } ] }, { "title": "Human IL4I1 is a secreted L-phenylalanine oxidase expressed by mature dendritic cells that inhibits T-lymphocyte proliferation.", "journal": "Blood", "date": "2007", "authors": "Boulland ML, Marquet J, Molinier-Frenkel V, Moller P, Guiter C, Lasoudris F, Copie-Bergman C, Baia M, Gaulard P, Leroy K, Castellano F", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964208", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964208" } ], "reference": [ { "type": "PubMed", "id": "17356132", "url": "https://glygen.org/publication/PubMed/17356132" } ] }, { "title": "Anabolic function of phenylalanine hydroxylase in Caenorhabditis elegans.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2008-08", "authors": "Calvo Ana C, Pey Angel L, Ying Ming, Loer Curtis M, Martinez Aurora", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "18460651", "url": "https://glygen.org/publication/PubMed/18460651" } ] }, { "title": "Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability.", "journal": "American journal of human genetics", "date": "2008", "authors": "Gersting SW, Kemter KF, Staudigl M, Messing DD, Danecka MK, Lagler FB, Sommerhoff CP, Roscher AA, Muntau AC", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "18538294", "url": "https://glygen.org/publication/PubMed/18538294" } ] }, { "title": "The phylogeny of the aromatic amino acid hydroxylases revisited by characterizing phenylalanine hydroxylase from Dictyostelium discoideum.", "journal": "Gene", "date": "2008", "authors": "Siltberg-Liberles J, Steen IH, Svebak RM, Martinez A", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "18835579", "url": "https://glygen.org/publication/PubMed/18835579" } ] }, { "title": "Structural insight into the inhibition of human kynurenine aminotransferase I/glutamine transaminase K.", "journal": "Journal of medicinal chemistry", "date": "2009", "authors": "Han Q, Robinson H, Cai T, Tagle DA, Li J", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964208", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964208" } ], "reference": [ { "type": "PubMed", "id": "19338303", "url": "https://glygen.org/publication/PubMed/19338303" } ] }, { "title": "Two mutations within the coding sequence of the phenylalanine hydroxylase gene.", "journal": "Human genetics", "date": "1990", "authors": "Svensson E, Andersson B, Hagenfeldt L", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "1975559", "url": "https://glygen.org/publication/PubMed/1975559" } ] }, { "title": "The human asparaginase-like protein 1 hASRGL1 is an Ntn hydrolase with beta-aspartyl peptidase activity.", "journal": "Biochemistry", "date": "2009", "authors": "Cantor JR, Stone EM, Chantranupong L, Georgiou G", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964208", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964208" } ], "reference": [ { "type": "PubMed", "id": "19839645", "url": "https://glygen.org/publication/PubMed/19839645" } ] }, { "title": "Phenylketonuria in U.S. blacks: molecular analysis of the phenylalanine hydroxylase gene.", "journal": "American journal of human genetics", "date": "1991", "authors": "Hofman KJ, Steel G, Kazazian HH, Valle D", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "2014802", "url": "https://glygen.org/publication/PubMed/2014802" } ] }, { "title": "Phenylalanine hydroxylase deficiency.", "journal": "Genetics in medicine : official journal of the American College of Medical Genetics", "date": "2011", "authors": "Mitchell JJ, Trakadis YJ, Scriver CR", "evidence": [ { "database": "Reactome", "id": "R-HSA-2160456", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2160456" } ], "reference": [ { "type": "PubMed", "id": "21555948", "url": "https://glygen.org/publication/PubMed/21555948" } ] }, { "title": "Allosteric regulation of phenylalanine hydroxylase.", "journal": "Archives of biochemistry and biophysics", "date": "2012-03-15", "authors": "Fitzpatrick Paul F", "evidence": [ { "database": "iPTMnet", "id": "P00439", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00439" } ], "reference": [ { "type": "PubMed", "id": "22005392", "url": "https://glygen.org/publication/PubMed/22005392" } ] }, { "title": "[Regulation of melanogenesis: the role of cAMP and MITF].", "journal": "Postepy higieny i medycyny doswiadczalnej (Online)", "date": "2012-01-30", "authors": "Otr\u0119ba Micha\u0142, Rok Jakub, Buszman Ewa, Wrze\u015bniok Dorota", "evidence": [ { "database": "iPTMnet", "id": "P00439", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00439" } ], "reference": [ { "type": "PubMed", "id": "22371403", "url": "https://glygen.org/publication/PubMed/22371403" } ] }, { "title": "Heterogeneity of phenylketonuria at the clinical, protein and DNA levels.", "journal": "J. Inherit. Metab. Dis.", "date": "1990", "authors": "Cotton R G", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "2246858", "url": "https://glygen.org/publication/PubMed/2246858" } ] }, { "title": "Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene.", "journal": "Molecular genetics and metabolism", "date": "2012", "authors": "Groselj U, Tansek MZ, Kovac J, Hovnik T, Podkrajsek KT, Battelino T", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "22513348", "url": "https://glygen.org/publication/PubMed/22513348" } ] }, { "title": "Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.", "journal": "Journal of inherited metabolic disease", "date": "2013", "authors": "Sterl E, Paul K, Paschke E, Zschocke J, Brunner-Krainz M, Windisch E, Konstantopoulou V, Moslinger D, Karall D, Scholl-Burgi S, Sperl W, Lagler F, Plecko B", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "22526846", "url": "https://glygen.org/publication/PubMed/22526846" } ] }, { "title": "Structures of apo and product-bound human L-asparaginase: insights into the mechanism of autoproteolysis and substrate hydrolysis.", "journal": "Biochemistry", "date": "2012", "authors": "Nomme J, Su Y, Konrad M, Lavie A", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964208", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964208" } ], "reference": [ { "type": "PubMed", "id": "22861376", "url": "https://glygen.org/publication/PubMed/22861376" } ] }, { "title": "Uncoupling intramolecular processing and substrate hydrolysis in the N-terminal nucleophile hydrolase hASRGL1 by circular permutation.", "journal": "ACS chemical biology", "date": "2012", "authors": "Li W, Cantor JR, Yogesha SD, Yang S, Chantranupong L, Liu JQ, Agnello G, Georgiou G, Stone EM, Zhang Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964208", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964208" } ], "reference": [ { "type": "PubMed", "id": "22891768", "url": "https://glygen.org/publication/PubMed/22891768" } ] }, { "title": "Mutation analysis in hyperphenylalaninemia patients from South Italy.", "journal": "Clinical biochemistry", "date": "2013", "authors": "Trunzo R, Santacroce R, D'Andrea G, Longo V, De Girolamo G, Dimatteo C, Leccese A, Lillo V, Papadia F, Margaglione M", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "23792259", "url": "https://glygen.org/publication/PubMed/23792259" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "iPTMnet", "id": "P00439", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00439" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "A monoclonal antibody to aromatic amino acid hydroxylases. Identification of the epitope.", "journal": "Biochem. J.", "date": "1988", "authors": "Cotton R G, McAdam W, Jennings I, Morgan F J", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "2461704", "url": "https://glygen.org/publication/PubMed/2461704" } ] }, { "title": "Elucidation of the specific function of the conserved threonine triad responsible for human L-asparaginase autocleavage and substrate hydrolysis.", "journal": "Journal of molecular biology", "date": "2014", "authors": "Nomme J, Su Y, Lavie A", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964208", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964208" } ], "reference": [ { "type": "PubMed", "id": "24768817", "url": "https://glygen.org/publication/PubMed/24768817" } ] }, { "title": "Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.", "journal": "American journal of human genetics", "date": "1989", "authors": "Lyonnet S, Caillaud C, Rey F, Berthelon M, Frezal J, Rey J, Munnich A", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "2564729", "url": "https://glygen.org/publication/PubMed/2564729" } ] }, { "title": "Phenylketonuria in the Greek population. Haplotype analysis of the phenylalanine hydroxylase gene and identification of a PKU mutation.", "journal": "Molecular biology & medicine", "date": "1989", "authors": "Hofman KJ, Antonarakis SE, Missiou-Tsangaraki S, Boehm CD, Valle D", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "2615649", "url": "https://glygen.org/publication/PubMed/2615649" } ] }, { "title": "Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase gene.", "journal": "Biochemistry", "date": "1988", "authors": "Lichter-Konecki U, Konecki DS, DiLella AG, Brayton K, Marvit J, Hahn TM, Trefz FK, Woo SL", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "2840952", "url": "https://glygen.org/publication/PubMed/2840952" } ] }, { "title": "Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase.", "journal": "Biochemistry", "date": "1985", "authors": "Kwok S C, Ledley F D, DiLella A G, Robson K J, Woo S L", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "2986678", "url": "https://glygen.org/publication/PubMed/2986678" } ] }, { "title": "Structure and expression of human dihydropteridine reductase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1987", "authors": "Lockyer J, Cook RG, Milstien S, Kaufman S, Woo SL, Ledley FD", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964208", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964208" } ], "reference": [ { "type": "PubMed", "id": "3033643", "url": "https://glygen.org/publication/PubMed/3033643" } ] }, { "title": "The Genetic Landscape and Epidemiology of Phenylketonuria.", "journal": "American journal of human genetics", "date": "2020-08-06", "authors": "Hillert Alicia, Anikster Yair, Belanger-Quintana Amaya, Burlina Alberto, Burton Barbara K, Carducci Carla, Chiesa Ana E, Christodoulou John, \u0110or\u0111evi\u0107 Maja, Desviat Lourdes R, Eliyahu Aviva, Evers Roeland A F, Fajkusova Lena, Feillet Fran\u00e7ois, Bonfim-Freitas Pedro E, Gi\u017cewska Maria, Gundorova Polina, Karall Daniela, Kneller Katya, Kutsev Sergey I, Leuzzi Vincenzo, Levy Harvey L, Lichter-Konecki Uta, Muntau Ania C, Namour Fares, Oltarzewski Mariusz, Paras Andrea, Perez Belen, Polak Emil, Polyakov Alexander V, Porta Francesco, Rohrbach Marianne, Scholl-B\u00fcrgi Sabine, Sp\u00e9cola Norma, Stojiljkovi\u0107 Maja, Shen Nan, Santana-da Silva Luiz C, Skouma Anastasia, van Spronsen Francjan, Stoppioni Vera, Th\u00f6ny Beat, Trefz Friedrich K, Vockley Jerry, Yu Youngguo, Zschocke Johannes, Hoffmann Georg F, Garbade Sven F, Blau Nenad", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "32668217", "url": "https://glygen.org/publication/PubMed/32668217" } ] }, { "title": "The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China.", "journal": "Human genomics", "date": "2023-04-25", "authors": "Zhang Chuan, Zhang Pei, Yan Yousheng, Zhou Bingbo, Wang Yupei, Tian Xinyuan, Hao Shengju, Ma Panpan, Zheng Lei, Zhang Qinghua, Hui Ling, Wang Yan, Cao Zongfu, Ma Xu", "evidence": [ { "database": "RefSeq", "id": "NP_000268", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000268" } ], "reference": [ { "type": "PubMed", "id": "37098607", "url": "https://glygen.org/publication/PubMed/37098607" } ] }, { "title": "Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing.", "journal": "Orphanet journal of rare diseases", "date": "2023-05-26", "authors": "Zhang Chuan, Yan Yousheng, Zhou Bingbo, Wang Yupei, Tian Xinyuan, Hao Shengju, Ma Panpan, Zheng Lei, Zhang Qinghua, Hui Ling, Wang Yan, Cao Zongfu, Ma Xu", "evidence": [ { "database": "RefSeq", "id": "NP_000268", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000268" } ], "reference": [ { "type": "PubMed", "id": "37237386", "url": "https://glygen.org/publication/PubMed/37237386" } ] }, { "title": "Identification of Variants Underlying Phenylalanine Hydroxylase Deficiency in Saudi Arabia.", "journal": "Genetic testing and molecular biomarkers", "date": "2023-05", "authors": "Balobaid Ameera, Imtiaz Faiqa, Ramzan Khushnooda, Afzal Sibtain, AlSayed Moeenaldeen", "evidence": [ { "database": "RefSeq", "id": "NP_000268", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000268" } ], "reference": [ { "type": "PubMed", "id": "37257178", "url": "https://glygen.org/publication/PubMed/37257178" } ] }, { "title": "Mutation Characteristics of Phenylalanine Hydroxylase Gene in Children with Phenylketonuria in Yinchuan City.", "journal": "Discovery medicine", "date": "2023-08", "authors": "Yu Xinyou, Liu Fang, Wei Bo, Li Meijuan, Lu Ruiping, Pan Lihua", "evidence": [ { "database": "RefSeq", "id": "NP_000268", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000268" } ], "reference": [ { "type": "PubMed", "id": "37553307", "url": "https://glygen.org/publication/PubMed/37553307" } ] }, { "title": "Three-dimensional structure of the bifunctional protein PCD/DCoH, a cytoplasmic enzyme interacting with transcription factor HNF1.", "journal": "The EMBO journal", "date": "1995", "authors": "Ficner R, Sauer UH, Stier G, Suck D", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964208", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964208" } ], "reference": [ { "type": "PubMed", "id": "7744010", "url": "https://glygen.org/publication/PubMed/7744010" } ] }, { "title": "Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria.", "journal": "Human mutation", "date": "1994", "authors": "Benit P, Rey F, Melle D, Munnich A, Rey J", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "7833954", "url": "https://glygen.org/publication/PubMed/7833954" } ] }, { "title": "Molecular cloning and expression of a cDNA for human kidney cysteine conjugate beta-lyase.", "journal": "FEBS letters", "date": "1995", "authors": "Perry S, Harries H, Scholfield C, Lock T, King L, Gibson G, Goldfarb P", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964208", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964208" } ], "reference": [ { "type": "PubMed", "id": "7883047", "url": "https://glygen.org/publication/PubMed/7883047" } ] }, { "title": "Identification of a new missense mutation in Japanese phenylketonuric patients.", "journal": "Journal of inherited metabolic disease", "date": "1993", "authors": "Goebel-Schreiner B, Schreiner R", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "8068076", "url": "https://glygen.org/publication/PubMed/8068076" } ] }, { "title": "Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients.", "journal": "Genomics", "date": "1994", "authors": "Guldberg P, Henriksen KF, Thony B, Blau N, Guttler F", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "8088845", "url": "https://glygen.org/publication/PubMed/8088845" } ] }, { "title": "Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria.", "journal": "Human molecular genetics", "date": "1993", "authors": "Abadie V, Jaruzelska J, Lyonnet S, Millasseau P, Berthelon M, Rey F, Munnich A, Rey J", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "8098245", "url": "https://glygen.org/publication/PubMed/8098245" } ] }, { "title": "The crystallographic structure of a human dihydropteridine reductase NADH binary complex expressed in Escherichia coli by a cDNA constructed from its rat homologue.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Su Y, Varughese KI, Xuong NH, Bray TL, Roche DJ, Whiteley JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964208", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964208" } ], "reference": [ { "type": "PubMed", "id": "8262916", "url": "https://glygen.org/publication/PubMed/8262916" } ] }, { "title": "Purification and characterization of kynurenine aminotransferase I from human brain.", "journal": "Journal of neurochemistry", "date": "1994", "authors": "Baran H, Okuno E, Kido R, Schwarcz R", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964208", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964208" } ], "reference": [ { "type": "PubMed", "id": "8294935", "url": "https://glygen.org/publication/PubMed/8294935" } ] }, { "title": "Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism.", "journal": "American journal of human genetics", "date": "1993", "authors": "Citron BA, Kaufman S, Milstien S, Naylor EW, Greene CL, Davis MD", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964208", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964208" } ], "reference": [ { "type": "PubMed", "id": "8352282", "url": "https://glygen.org/publication/PubMed/8352282" } ] }, { "title": "A novel missense mutation in the phenylalanine hydroxylase gene of a homozygous Pakistani patient with non-PKU hyperphenylalaninemia.", "journal": "Human molecular genetics", "date": "1993", "authors": "Guldberg P, Lou HC, Henriksen KF, Mikkelsen I, Olsen B, Holck B, Guttler F", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "8364546", "url": "https://glygen.org/publication/PubMed/8364546" } ] }, { "title": "Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis.", "journal": "Genomics", "date": "1993", "authors": "Guldberg P, Henriksen K F, G\u00fcttler F", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "8406445", "url": "https://glygen.org/publication/PubMed/8406445" } ] }, { "title": "Phenylalanine hydroxylase-stimulating protein/pterin-4 alpha-carbinolamine dehydratase from rat and human liver. Purification, characterization, and complete amino acid sequence.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Hauer CR, Rebrin I, Thony B, Neuheiser F, Curtius HC, Hunziker P, Blau N, Ghisla S, Heizmann CW", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964208", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964208" } ], "reference": [ { "type": "PubMed", "id": "8444860", "url": "https://glygen.org/publication/PubMed/8444860" } ] }, { "title": "Phosphorylation of recombinant human phenylalanine hydroxylase: effect on catalytic activity, substrate activation and protection against non-specific cleavage of the fusion protein by restriction protease.", "journal": "The Biochemical journal", "date": "1996", "authors": "Doskeland AP, Martinez A, Knappskog PM, Flatmark T", "evidence": [ { "database": "iPTMnet", "id": "P00439", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00439" } ], "reference": [ { "type": "PubMed", "id": "8573072", "url": "https://glygen.org/publication/PubMed/8573072" } ] }, { "title": "PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus.", "journal": "Nucleic Acids Res.", "date": "1996", "authors": "Hoang L, Byck S, Prevost L, Scriver C R", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "8594560", "url": "https://glygen.org/publication/PubMed/8594560" } ] }, { "title": "PKU mutation (D143G) associated with an apparent high residual enzyme activity: expression of a kinetic variant form of phenylalanine hydroxylase in three different systems.", "journal": "Human mutation", "date": "1996", "authors": "Knappskog PM, Eiken HG, Martinez A, Bruland O, Apold J, Flatmark T", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "8889583", "url": "https://glygen.org/publication/PubMed/8889583" } ] }, { "title": "Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations.", "journal": "Human mutation", "date": "1996", "authors": "Guldberg P, Mallmann R, Henriksen KF, Guttler F", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" }, { "database": "Reactome", "id": "R-HSA-8964208", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964208" } ], "reference": [ { "type": "PubMed", "id": "8889590", "url": "https://glygen.org/publication/PubMed/8889590" } ] }, { "title": "Two novel PAH gene mutations detected in Italian phenylketonuric patients.", "journal": "Human genetics", "date": "1997", "authors": "Argiolas A, Bosco P, Cali F, Ceratto N, Anello G, Riva E, Biasucci G, Carducci C, Romano V", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "9048935", "url": "https://glygen.org/publication/PubMed/9048935" } ] }, { "title": "Prediction of multiple hypermutable codons in the human PAH gene: codon 280 contains recurrent mutations in Quebec and other populations.", "journal": "Human mutation", "date": "1997", "authors": "Byck S, Tyfield L, Carter K, Scriver C R", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "9101291", "url": "https://glygen.org/publication/PubMed/9101291" } ] }, { "title": "Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria.", "journal": "Nat. Struct. Biol.", "date": "1997", "authors": "Erlandsen H, Fusetti F, Martinez A, Hough E, Flatmark T, Stevens R C", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "9406548", "url": "https://glygen.org/publication/PubMed/9406548" } ] }, { "title": "In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function.", "journal": "Human mutation", "date": "1998", "authors": "Waters P J, Parniak M A, Nowacki P, Scriver C R", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "9450897", "url": "https://glygen.org/publication/PubMed/9450897" } ] }, { "title": "Identification of three novel mutations in Korean phenylketonuria patients: R53H, N207D, and Y325X.", "journal": "Human mutation", "date": "1998", "authors": "Park YS, Seoung CS, Lee SW, Oh KH, Lee DH, Yim J", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "9452061", "url": "https://glygen.org/publication/PubMed/9452061" } ] }, { "title": "Identification of seven new mutations in the phenylalanine hydroxylase gene, associated with hyperphenylalaninemia in the Belgian population.", "journal": "Human mutation", "date": "1998", "authors": "Michiels L, Francois B, Raus J, Vandevyver C", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "9452062", "url": "https://glygen.org/publication/PubMed/9452062" } ] }, { "title": "Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia.", "journal": "Human mutation", "date": "1998", "authors": "Bosco P, Cali F, Meli C, Mollica F, Zammarchi E, Cerone R, Vanni C, Palillo L, Greco D, Romano V", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "9521426", "url": "https://glygen.org/publication/PubMed/9521426" } ] }, { "title": "Molecular basis of phenylketonuria in Venezuela: presence of two novel null mutations.", "journal": "Human mutation", "date": "1998", "authors": "De Lucca M, Perez B, Desviat LR, Ugarte M", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "9600453", "url": "https://glygen.org/publication/PubMed/9600453" } ] }, { "title": "A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.", "journal": "American journal of human genetics", "date": "1998-07", "authors": "Guldberg P, Rey F, Zschocke J, Romano V, Fran\u00e7ois B, Michiels L, Ullrich K, Hoffmann G F, Burgard P, Schmidt H, Meli C, Riva E, Dianzani I, Ponzone A, Rey J, G\u00fcttler F", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "9634518", "url": "https://glygen.org/publication/PubMed/9634518" } ] }, { "title": "Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria.", "journal": "J. Biol. Chem.", "date": "1998", "authors": "Fusetti F, Erlandsen H, Flatmark T, Stevens RC", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" }, { "database": "Reactome", "id": "R-HSA-8964208", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964208" } ], "reference": [ { "type": "PubMed", "id": "9642259", "url": "https://glygen.org/publication/PubMed/9642259" } ] }, { "title": "Mutation spectrum and phenylalanine hydroxylase RFLP/VNTR background in 44 Romanian phenylketonuric alleles.", "journal": "Human mutation", "date": "1998", "authors": "Popescu T, Blazkova M, Kozak L, Jebeleanu G, Popescu A", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "9792407", "url": "https://glygen.org/publication/PubMed/9792407" } ] }, { "title": "Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene (PAH).", "journal": "Human mutation", "date": "1998", "authors": "Waters PJ, Parniak MA, Hewson AS, Scriver CR", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "9792411", "url": "https://glygen.org/publication/PubMed/9792411" } ] }, { "title": "Crystallographic analysis of the human phenylalanine hydroxylase catalytic domain with bound catechol inhibitors at 2.0-A resolution.", "journal": "Biochemistry", "date": "1998", "authors": "Erlandsen H, Flatmark T, Stevens R C, Hough E", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "9843368", "url": "https://glygen.org/publication/PubMed/9843368" } ] }, { "title": "Mutation analysis of the phenylalanine hydroxylase gene and its clinical implications in two Japanese patients with non-phenylketonuria hyperphenylalaninemia.", "journal": "Journal of human genetics", "date": "1998", "authors": "Kibayashi M, Nagao M, Chiba S", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "9852673", "url": "https://glygen.org/publication/PubMed/9852673" } ] }, { "title": "Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L)", "journal": "European journal of pediatrics", "date": "1999", "authors": "Corsello G, Bosco P, Cali F, Greco D, Cammarata M, Ciaccio M, Piccione M, Romano V", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "reference": [ { "type": "PubMed", "id": "9950317", "url": "https://glygen.org/publication/PubMed/9950317" } ] } ], "pathway": [ { "id": "hsa:5053", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5053", "resource": "KEGG Pathway" }, { "id": "R-HSA-2160456", "name": "Phenylketonuria", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2160456", "resource": "Reactome", "description": "Phenylketonuria" }, { "id": "R-HSA-8964208", "name": "Phenylalanine metabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964208", "resource": "Reactome", "description": "Phenylalanine metabolism" } ], "orthologs": [ { "uniprot_canonical_ac": "P04176-1", "protein_name": "Phenylalanine-4-hydroxylase", "gene_name": "Pah", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAAVVLENGVLSRKLSDFGQETSYIEDNSNQNGAISLIFSLKEEVGALAKVLRLFEENDINLTHIESRPSRLNKDEYEFFTYLDKRTKPVLGSIIKSLRNDIGATVHELSRDKEKNTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYTEEEKQTWGTVFRTLKALYKTHACYEHNHIFPLLEKYCGFREDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKEGDSIKAYGAGLLSSFGELQYCLSDKPKLLPLELEKTACQEYSVTEFQPLYYVAESFSDAKEKVRTFAATIPRPFSVRYDPYTQRVEVLDNTQQLKILADSINSEVGILCNALQKIKS", "length": 453 }, "evidence": [ { "id": "45918192", "url": "http://www.informatics.jax.org/homology/45918192", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P16331-1", "protein_name": "Phenylalanine-4-hydroxylase", "gene_name": "Pah", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAAVVLENGVLSRKLSDFGQETSYIEDNSNQNGAVSLIFSLKEEVGALAKVLRLFEENEINLTHIESRPSRLNKDEYEFFTYLDKRSKPVLGSIIKSLRNDIGATVHELSRDKEKNTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYTEEERKTWGTVFRTLKALYKTHACYEHNHIFPLLEKYCGFREDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKEGDSIKAYGAGLLSSFGELQYCLSDKPKLLPLELEKTACQEYTVTEFQPLYYVAESFNDAKEKVRTFAATIPRPFSVRYDPYTQRVEVLDNTQQLKILADSINSEVGILCHALQKIKS", "length": 453 }, "evidence": [ { "id": "45918192", "url": "http://www.informatics.jax.org/homology/45918192", "database": "MGI" }, { "id": "P00439", "url": "https://omabrowser.org/oma/group/P00439/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P17276-1", "protein_name": "Protein henna", "gene_name": "Hn", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MYQRQVSFDKPTRVEDSAYIVEGVDIKEARNTCLLFSPKDSSLSSGALANILAIFKKHDINLVHIESRSSLRVPGYEFFVEADGKSGALGKAIEDVKEQCSYFNIISRDYKDNATAVPWFPRRIRDLDRFANQILSYGSELDADHPGFTDPEYRKRRKYFADIAYNYKHGEPLPHVDYTKEEIETWGIIFRNLTKLYKTHACREYNHVFPLLVDNCGFREDNIPQLEDVSNFLRDCTGFTLRPVAGLLSSRDFLAGLAFRVFHSTQYIRHPSKPMYTPEPDVCHELMGHVPLFADPAFAQFSQEIGLASLGAPDDYIEKLSTIFWFTVEYGVCRQEGELKAYGAGLLSSYGELEYCLTDKPQLKDFEPEVTGVTKYPITQFQPLYYVADSFETAKEKTIKFANSIPRPFGVRYNAYTQSVEVLDSKPQISNLMDNINSEFQILQNAVAKLRV", "length": 452 }, "evidence": [ { "id": "P00439", "url": "https://omabrowser.org/oma/group/P00439/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "pmid": "" }, { "name": "phenylalanine 4-monooxygenase activity", "id": "GO:0004505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004505", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen", "id": "GO:0016714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016714", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "L-phenylalanine catabolic process", "id": "GO:0006559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006559", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "pmid": "" }, { "name": "aromatic amino acid metabolic process", "id": "GO:0009072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009072", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "pmid": "" }, { "name": "tyrosine biosynthetic process", "id": "GO:0006571", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006571", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "pmid": "" }, { "name": "amino acid biosynthetic process", "id": "GO:0008652", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008652", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "pmid": "" }, { "name": "catecholamine biosynthetic process", "id": "GO:0042423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042423", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 376, "end_pos": 378, "annotation": "n_glycosylation_sequon" }, { "start_pos": 61, "end_pos": 63, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Phosphorylation at Ser-16 increases basal activity and facilitates activation by the substrate phenylalanine.", "evidence": [ { "database": "UniProtKB", "id": "P00439", "url": "https://www.uniprot.org/uniprot/P00439" }, { "database": "PubMed", "id": "12185072", "url": "https://glygen.org/publication/PubMed/12185072" } ] } ], "interactions": [], "reactions": [ { "id": "20273", "name": "", "equation": "(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin + L-phenylalanine + O2 = (4aS,6R)-4a-hydroxy-L-erythro-5,6,7,8-tetrahydrobiopterin + L-tyrosine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P04176-1", "P00439-1", "P16331-1", "Q54XS1-1", "P17276-1" ], "evidence": [ { "id": "20273", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/20273" } ] }, { "id": "R-HSA-5649483", "name": "Defective PAH does not hydroxylate L-Phe to L-Tyr", "equation": "", "summary": "Inactivating mutations of cytosolic phenylalanine hydroxylase (PAH) block the normal reaction of phenylalanine, molecular oxygen and tetrahydrobiopterin to form tyrosine, water, and 4 alpha-hydroxytetrahydrobiopterin. Excess phenylalanine accumulates as a result, driving the formation of abnormally high levels of phenylpyruvate, and phenyllactate (Guldberg et al. 1996; Mitchell et al. 2011) in reactions not annotated here.", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00439-1" ], "evidence": [ { "id": "R-HSA-5649483", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5649483" } ] }, { "id": "R-HSA-71118", "name": "PAH:Fe2+ tetramer hydroxylates L-Phe to L-Tyr", "equation": "", "summary": "Inactivating mutations of cytosolic phenylalanine hydroxylase (PAH) block the normal reaction of phenylalanine, molecular oxygen and tetrahydrobiopterin to form tyrosine, water, and 4 alpha-hydroxytetrahydrobiopterin. Excess phenylalanine accumulates as a result, driving the formation of abnormally high levels of phenylpyruvate, and phenyllactate (Guldberg et al. 1996; Mitchell et al. 2011) in reactions not annotated here.", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00439-1" ], "evidence": [ { "id": "R-HSA-71118", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71118" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "P00439", "gene_name": "PAH", "activity": [ { "ec_number": "1.14.16.1", "activity": "(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin + L-phenylalanine + O2 = (4aS,6R)-4a-hydroxy-L-erythro-5,6,7,8-tetrahydrobiopterin + L-tyrosine.", "evidence": [ { "id": "P00439", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00439" } ] }, { "ec_number": "1.14.16.1", "activity": "", "evidence": [ { "id": "P00439", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00439" } ] } ] }, { "uniprot_ac": "P04176", "gene_name": "Pah", "activity": [ { "ec_number": "1.14.16.1", "activity": "(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin + L-phenylalanine + O2 = (4aS,6R)-4a-hydroxy-L-erythro-5,6,7,8-tetrahydrobiopterin + L-tyrosine.", "evidence": [ { "id": "P04176", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04176" } ] }, { "ec_number": "1.14.16.1", "activity": "", "evidence": [ { "id": "P04176", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04176" } ] } ] }, { "uniprot_ac": "P16331", "gene_name": "Pah", "activity": [ { "ec_number": "1.14.16.1", "activity": "(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin + L-phenylalanine + O2 = (4aS,6R)-4a-hydroxy-L-erythro-5,6,7,8-tetrahydrobiopterin + L-tyrosine.", "evidence": [ { "id": "P16331", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16331" } ] }, { "ec_number": "1.14.16.1", "activity": "", "evidence": [ { "id": "P16331", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16331" } ] } ] }, { "uniprot_ac": "P17276", "gene_name": "Hn", "activity": [ { "ec_number": "1.14.16.1", "activity": "(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin + L-phenylalanine + O2 = (4aS,6R)-4a-hydroxy-L-erythro-5,6,7,8-tetrahydrobiopterin + L-tyrosine.", "evidence": [ { "id": "P17276", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17276" } ] }, { "ec_number": "1.14.16.4", "activity": "(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin + L-tryptophan + O2 = (4aS,6R)-4a-hydroxy-L-erythro-5,6,7,8-tetrahydrobiopterin + 5-hydroxy-L-tryptophan.", "evidence": [ { "id": "P17276", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17276" } ] }, { "ec_number": "1.14.16.4", "activity": "", "evidence": [ { "id": "P17276", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17276" } ] }, { "ec_number": "1.14.16.1", "activity": "", "evidence": [ { "id": "P17276", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17276" } ] } ] }, { "uniprot_ac": "Q54XS1", "gene_name": "pah", "activity": [ { "ec_number": "1.14.16.1", "activity": "(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin + L-phenylalanine + O2 = (4aS,6R)-4a-hydroxy-L-erythro-5,6,7,8-tetrahydrobiopterin + L-tyrosine.", "evidence": [ { "id": "Q54XS1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54XS1" } ] }, { "ec_number": "1.14.16.4", "activity": "(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin + L-tryptophan + O2 = (4aS,6R)-4a-hydroxy-L-erythro-5,6,7,8-tetrahydrobiopterin + 5-hydroxy-L-tryptophan.", "evidence": [ { "id": "Q54XS1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54XS1" } ] }, { "ec_number": "1.14.16.1", "activity": "", "evidence": [ { "id": "Q54XS1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54XS1" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [ 111, 158 ], "glycation_sites": [], "phosphorylation_sites": [ 16 ], "sequon_annotation_sites": [ { "start_pos": 376, "end_pos": 378 }, { "start_pos": 61, "end_pos": 63 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 86 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }