{ "uniprot_canonical_ac": "P04424-1", "uniprot_ac": "P04424", "uniprot_id": "ARLY_HUMAN", "mass": { "chemical_mass": 51658.0, "monoisotopic_mass": 51658.0 }, "refseq": { "ac": "NP_000039", "name": "argininosuccinate lyase isoform 1", "summary": "This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000039" }, "gene_names": [ { "name": "ASL", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P04424", "id": "P04424" }, { "name": "ASAL", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000039", "id": "NP_000039" }, { "name": "ASL", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000039", "id": "NP_000039" } ], "protein_names": [ { "name": "Argininosuccinate lyase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P04424" }, { "name": "4.3.2.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04424" }, { "name": "ASAL", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04424" }, { "name": "Arginosuccinase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04424" }, { "name": "argininosuccinase; arginosuccinase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000039", "id": "NP_000039" }, { "name": "argininosuccinate lyase isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000039", "id": "NP_000039" } ], "function": [ { "annotation": "Argininosuccinate lyase deficiency causes blood-brain barrier disruption via nitric oxide-mediated dysregulation of claudin expression. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000039", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000039" }, { "database": "PubMed", "id": "37490345", "url": "https://glygen.org/publication/PubMed/37490345" } ] }, { "annotation": "Biomarkers for liver disease in urea cycle disorders.", "evidence": [ { "database": "RefSeq", "id": "NP_000039", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000039" }, { "database": "PubMed", "id": "33846069", "url": "https://glygen.org/publication/PubMed/33846069" } ] }, { "annotation": "Catalyzes the reversible cleavage of L-argininosuccinate to fumarate and L-arginine, an intermediate step reaction in the urea cycle mostly providing for hepatic nitrogen detoxification into excretable urea as well as de novo L-arginine synthesis in nonhepatic tissues (PubMed:11747433, PubMed:11747432, PubMed:9045711, PubMed:22081021, PubMed:2263616). Essential regulator of intracellular and extracellular L-arginine pools. As part of citrulline-nitric oxide cycle, forms tissue-specific multiprotein complexes with argininosuccinate synthase ASS1, transport protein SLC7A1 and nitric oxide synthase NOS1, NOS2 or NOS3, allowing for cell-autonomous L-arginine synthesis while channeling extracellular L-arginine to nitric oxide synthesis pathway (PubMed:22081021).", "evidence": [ { "database": "UniProtKB", "id": "P04424", "url": "https://www.uniprot.org/uniprot/P04424#function" }, { "database": "PubMed", "id": "11747432", "url": "https://glygen.org/publication/PubMed/11747432" }, { "database": "PubMed", "id": "11747433", "url": "https://glygen.org/publication/PubMed/11747433" }, { "database": "PubMed", "id": "22081021", "url": "https://glygen.org/publication/PubMed/22081021" }, { "database": "PubMed", "id": "9045711", "url": "https://glygen.org/publication/PubMed/9045711" } ] }, { "annotation": "Clinical and genetic analysis of five Chinese patients with urea cycle disorders.", "evidence": [ { "database": "RefSeq", "id": "NP_000039", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000039" }, { "database": "PubMed", "id": "32410394", "url": "https://glygen.org/publication/PubMed/32410394" } ] }, { "annotation": "This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000039", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000039" } ] }, { "annotation": "Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review.", "evidence": [ { "database": "RefSeq", "id": "NP_000039", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000039" }, { "database": "PubMed", "id": "33851512", "url": "https://glygen.org/publication/PubMed/33851512" } ] } ], "disease": [ { "disease_id": "DOID:14755", "recommended_name": { "id": "DOID:14755", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14755", "name": "argininosuccinic aciduria", "description": "An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine." }, "synonyms": [ { "id": "DOID:14755", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14755", "name": "Argininosuccinate lyase deficiency", "description": "" }, { "id": "DOID:14755", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14755", "name": "argininosuccinic acidemia", "description": "" }, { "id": "DOID:14755", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14755", "name": "arginosuccinase deficiency", "description": "" }, { "id": "DOID:14755", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14755", "name": "deficiency of argininosuccinate lyase", "description": "" }, { "id": "MONDO:0008815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008815", "name": "argininosuccinic aciduria", "description": "Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction." }, { "id": "MONDO:0008815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008815", "name": "ASA deficiency", "description": "" }, { "id": "MONDO:0008815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008815", "name": "ASL deficiency", "description": "" }, { "id": "MONDO:0008815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008815", "name": "argininosuccinase deficiency", "description": "" }, { "id": "MONDO:0008815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008815", "name": "argininosuccinatelyase deficiency", "description": "" }, { "id": "MONDO:0008815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008815", "name": "argininosuccinic acid lyase deficiency", "description": "" }, { "id": "MONDO:0008815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008815", "name": "argininosuccinic acidemia", "description": "" }, { "id": "MONDO:0008815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008815", "name": "argininosuccinic aciduria", "description": "" }, { "id": "MONDO:0008815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008815", "name": "arginosuccinase deficiency", "description": "" }, { "id": "MONDO:0008815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008815", "name": "deficiency of argininosuccinate lyase", "description": "" }, { "id": "MONDO:0008815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008815", "name": "arginino succinase deficiency", "description": "" }, { "id": "MONDO:0008815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008815", "name": "argininosuccinate acidemia", "description": "" }, { "id": "MONDO:0008815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008815", "name": "argininosuccinate lyase deficiency", "description": "" }, { "id": "MONDO:0008815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008815", "name": "argininosuccinicaciduria", "description": "" }, { "id": "MONDO:0008815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008815", "name": "inborn error of urea synthesis, arginino succinic type", "description": "" }, { "id": "MONDO:0008815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008815", "name": "urea cycle disorder, arginino succinase type", "description": "" }, { "id": "MIM:207900", "resource": "MIM", "url": "https://www.omim.org/entry/207900", "name": "Argininosuccinic aciduria", "description": "Argininosuccinic aciduria" } ], "evidence": [ { "id": "207900", "database": "MIM", "url": "https://www.omim.org/entry/207900" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 288, "end_pos": 288, "sequence_org": "K", "sequence_mut": "R", "comment": "Refractory to inhibition by TSA and NAM and by addition of extra amino acids. No effect on protein structure.", "evidence": [ { "database": "UniProtKB", "id": "P04424", "url": "https://www.uniprot.org/uniprot/P04424" }, { "database": "PubMed", "id": "20167786", "url": "https://glygen.org/publication/PubMed/20167786" } ] }, { "start_pos": 51, "end_pos": 51, "sequence_org": "K", "sequence_mut": "N", "comment": "2-fold reduction in activity.", "evidence": [ { "database": "UniProtKB", "id": "P04424", "url": "https://www.uniprot.org/uniprot/P04424" }, { "database": "PubMed", "id": "1705937", "url": "https://glygen.org/publication/PubMed/1705937" } ] }, { "start_pos": 89, "end_pos": 89, "sequence_org": "H", "sequence_mut": "Q", "comment": "10-fold reduction in activity.", "evidence": [ { "database": "UniProtKB", "id": "P04424", "url": "https://www.uniprot.org/uniprot/P04424" }, { "database": "PubMed", "id": "1705937", "url": "https://glygen.org/publication/PubMed/1705937" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "96.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000126522", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126522" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "95.08", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000126522", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126522" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "92.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000126522", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126522" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "94.48", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000126522", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126522" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "90.57", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000126522", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126522" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "93.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000126522", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126522" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "98.96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000126522", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126522" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "91.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000126522", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126522" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "91.32", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000126522", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126522" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P04424", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04424" } ], "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": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P04424", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04424" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P04424", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04424" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P04424", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04424" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P04424", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04424" } ], "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": "P04424", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04424" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P04424", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04424" } ], "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": "P04424", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04424" } ], "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": "P04424", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04424" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P04424", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04424" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P04424", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04424" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P04424", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04424" } ], "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": "P04424", "url": "https://www.uniprot.org/uniprot/P04424" } ], "common_name": "Human" } ], "gene": [ { "name": "ASL", "url": "https://www.uniprot.org/uniprot/P04424", "locus": { "chromosome": "7", "start_pos": 66094697, "end_pos": 66075800, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000126522", "url": "https://www.ensembl.org/id/ENSG00000126522" } ] } } ], "crossref": [ { "id": "ENSG00000126522", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126522", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "4.3.2.1", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=4.3.2.1&UniProtAcc=P04424", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd01359", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd01359", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "ASL", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASL", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "435", "url": "https://www.ncbi.nlm.nih.gov/gene/435", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "746", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=746", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "F8W943", "url": "https://www.ebi.ac.uk/intact/interactors/id:F8W943*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "P04424", "url": "https://www.ebi.ac.uk/intact/interactors/id:P04424*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000362", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000362", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008948", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008948", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR009049", "url": "https://www.ebi.ac.uk/interpro/entry/IPR009049", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR020557", "url": "https://www.ebi.ac.uk/interpro/entry/IPR020557", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR022761", "url": "https://www.ebi.ac.uk/interpro/entry/IPR022761", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR024083", "url": "https://www.ebi.ac.uk/interpro/entry/IPR024083", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR029419", "url": "https://www.ebi.ac.uk/interpro/entry/IPR029419", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:435", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:435", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "207900", "url": "http://www.omim.org/entry/207900", "database": "MIM", "categories": [ "Other" ] }, { "id": "608310", "url": "http://www.omim.org/entry/608310", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P04424", "url": "https://www.nextprot.org/entry/NX_P04424", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "KKNPDVF", "url": "https://omabrowser.org/oma/group/KKNPDVF/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2722228at2759", "url": "http://www.orthodb.org/?query=2722228at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR43814", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43814", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR43814:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43814:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1AOS", "url": "https://www.rcsb.org/structure/1AOS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1K62", "url": "https://www.rcsb.org/structure/1K62", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00206", "url": "http://pfam.xfam.org/family/PF00206", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF14698", "url": "http://pfam.xfam.org/family/PF14698", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P04424", "url": "https://pharos.nih.gov/targets/P04424", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P04424", "url": "http://purl.obolibrary.org/obo/PR_P04424", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000039", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000039", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "24020", "url": "https://www.rhea-db.org/rhea/24020", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A5F9ZHC6", "url": "https://www.uniprot.org/uniprot/A0A5F9ZHC6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A5F9ZHC6-1", "url": "https://www.uniprot.org/uniprot/A0A5F9ZHC6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A5F9ZHM8", "url": "https://www.uniprot.org/uniprot/A0A5F9ZHM8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A5F9ZHM8-1", "url": "https://www.uniprot.org/uniprot/A0A5F9ZHM8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A5F9ZI35", "url": "https://www.uniprot.org/uniprot/A0A5F9ZI35", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A5F9ZI35-1", "url": "https://www.uniprot.org/uniprot/A0A5F9ZI35-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W943", "url": "https://www.uniprot.org/uniprot/F8W943", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W943-1", "url": "https://www.uniprot.org/uniprot/F8W943-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04424", "url": "https://www.uniprot.org/uniprot/P04424", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04424-1", "url": "https://www.uniprot.org/uniprot/P04424-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04424-2", "url": "https://www.uniprot.org/uniprot/P04424-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04424-3", "url": "https://www.uniprot.org/uniprot/P04424-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MASESGKLWGGRFVGAVDPIMEKFNASIAYDRHLWEVDVQGSKAYSRGLEKAGLLTKAEMDQILHGLDKVAEEWAQGTFKLNSNDEDIHTANERRLKELIGATAGKLHTGRSRNDQVVTDLRLWMRQTCSTLSGLLWELIRTMVDRAEAERDVLFPGYTHLQRAQPIRWSHWILSHAVALTRDSERLLEVRKRINVLPLGSGAIAGNPLGVDRELLRAELNFGAITLNSMDATSERDFVAEFLFWASLCMTHLSRMAEDLILYCTKEFSFVQLSDAYSTGSSLMPQKKNPDSLELIRSKAGRVFGRCAGLLMTLKGLPSTYNKDLQEDKEAVFEVSDTMSAVLQVATGVISTLQIHQENMGQALSPDMLATDLAYYLVRKGMPFRQAHEASGKAVFMAETKGVALNQLSLQELQTISPLFSGDVICVWDYGHSVEQYGALGGTARSSVDWQIRQVRALLQAQQA", "length": 464, "header": "sp|P04424-1|ARLY_HUMAN Isoform 1 of Argininosuccinate lyase OS=Homo sapiens OX=9606 GN=ASL PE=1 SV=4 CANONICAL=P04424-1" }, "isoforms": [ { "isoform_ac": "A0A5F9ZHC6-1", "url": "", "sequence": { "sequence": "MASESGKLWGGRFVGAVDPIMEKFNASIAYDRHLWEVDVQGSKAYSRGLEKAGLLTKAEMDQILHGLDKVAEEWAQGTFKLNSNDEDIHTANERRLKELIGATAGKLHTGRSRNDQVVTDLRLWMRQTCSTLSGLLWELIRTMVDRAEATQLWGHHSQQHGCH", "length": 163, "header": "tr|A0A5F9ZHC6-1|ARLY_HUMAN Computationally mapped isoform of Argininosuccinate lyase OS=Homo sapiens OX=9606 GN=ASL PE=1 SV=1 CANONICAL=P04424-1" }, "locus": { "chromosome": "7", "start_pos": 66087771, "end_pos": 66076082, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000672498.1", "url": "https://www.ensembl.org/id/ENST00000672498.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000500227.1", "url": "https://www.ensembl.org/id/ENSP00000500227.1" } ] } }, { "isoform_ac": "A0A5F9ZHM8-1", "url": "", "sequence": { "sequence": "MASESGKLWGGRFVGAVDPIMEKFNASIAYDRHLWEVDVQGSKAYSRGLEKAGLLTKAEMDQILHGLDKVAEEWAQGTFKLNSNDEDIHTANERRLKELIGATAGKLHTGRSRNDQVVTDLRLWMRQTCSTLSGLLWELIRTMVDRAEAERDVLFPGYTHLQRAQPIRWSHWILSGAIAGNPLGVDRELLRAELNFGAITLNSMDATSERDFVAEFLFWASLCMTHLSRMAEDLILYCTKEFSFVQLSDAYSTGSSLMPQKKNPDSLELIRSKAGRVFGRCAGLLMTLKGLPSTYNKDLQEDKEAVFEVSDTMSAVLQVATGVISTLQIHQENMGQALSPDMLATDL", "length": 347, "header": "tr|A0A5F9ZHM8-1|A0A5F9ZHM8_HUMAN Computationally mapped isoform of Argininosuccinate lyase OS=Homo sapiens OX=9606 GN=ASL PE=1 SV=1 CANONICAL=P04424-1" }, "locus": { "chromosome": "7", "start_pos": 66092062, "end_pos": 66076082, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000671817.1", "url": "https://www.ensembl.org/id/ENST00000671817.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000500462.1", "url": "https://www.ensembl.org/id/ENSP00000500462.1" } ] } }, { "isoform_ac": "A0A5F9ZI35-1", "url": "", "sequence": { "sequence": "STGSSLMPQKKNPDSLELIRSKAGRVFGRCAGLLMTLKGLPSTYNKDLQQA", "length": 51, "header": "tr|A0A5F9ZI35-1|A0A5F9ZI35_HUMAN Computationally mapped isoform of Argininosuccinate lyase OS=Homo sapiens OX=9606 GN=ASL PE=4 SV=1 CANONICAL=P04424-1" }, "locus": { "chromosome": "7", "start_pos": 66092909, "end_pos": 66088920, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000488343.2", "url": "https://www.ensembl.org/id/ENST00000488343.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000500864.1", "url": "https://www.ensembl.org/id/ENSP00000500864.1" } ] } }, { "isoform_ac": "F8W943-1", "url": "", "sequence": { "sequence": "MASEVAEEWAQGTFKLNSNDEDIHTANERRLKELIGATAGKLHTGRSRNDQVVTDLRLWMRQTCSTLSGLLWELIRTMVDRAEAERDVLFPGYTHLQRAQPIRWSHWILSHAVALTRDSERLLEVRKRINVLPLGSGAIAGNPLGVDRELLRAELNFGAITLNSMDATSERDFVAEFLFWASLCMTHLSRMAEDLILYCTKEFSFVQLSDAYSTGSSLMPQKKNPDSLELIRSKAGRVFGRCAGLLMTLKGLPSTYNKDLQEDKEAVFEVSDTMSAVLQVATGVISTLQIHQENMGQALSPDMLATDLAYYLVRKGMPFRQAHEASGKAVFMAETKGVALNQLSLQELQTISPLFSGDVICVWDYGHSVEQYGALGGTARSSVDWQIRQVRALLQAQQA", "length": 399, "header": "tr|F8W943-1|ARLY_HUMAN Computationally mapped isoform of Argininosuccinate lyase OS=Homo sapiens OX=9606 GN=ASL PE=1 SV=2 CANONICAL=P04424-1" }, "locus": { "chromosome": "7", "start_pos": 66092909, "end_pos": 66076082, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000362000.10", "url": "https://www.ensembl.org/id/ENST00000362000.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000354710.6", "url": "https://www.ensembl.org/id/ENSP00000354710.6" } ] } }, { "isoform_ac": "P04424-1", "url": "", "sequence": { "sequence": "MASESGKLWGGRFVGAVDPIMEKFNASIAYDRHLWEVDVQGSKAYSRGLEKAGLLTKAEMDQILHGLDKVAEEWAQGTFKLNSNDEDIHTANERRLKELIGATAGKLHTGRSRNDQVVTDLRLWMRQTCSTLSGLLWELIRTMVDRAEAERDVLFPGYTHLQRAQPIRWSHWILSHAVALTRDSERLLEVRKRINVLPLGSGAIAGNPLGVDRELLRAELNFGAITLNSMDATSERDFVAEFLFWASLCMTHLSRMAEDLILYCTKEFSFVQLSDAYSTGSSLMPQKKNPDSLELIRSKAGRVFGRCAGLLMTLKGLPSTYNKDLQEDKEAVFEVSDTMSAVLQVATGVISTLQIHQENMGQALSPDMLATDLAYYLVRKGMPFRQAHEASGKAVFMAETKGVALNQLSLQELQTISPLFSGDVICVWDYGHSVEQYGALGGTARSSVDWQIRQVRALLQAQQA", "length": 464, "header": "sp|P04424-1|ARLY_HUMAN Isoform 1 of Argininosuccinate lyase OS=Homo sapiens OX=9606 GN=ASL PE=1 SV=4 CANONICAL=P04424-1" }, "locus": { "chromosome": "7", "start_pos": 66092909, "end_pos": 66076082, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000395332.8", "url": "https://www.ensembl.org/id/ENST00000395332.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000378741.3", "url": "https://www.ensembl.org/id/ENSP00000378741.3" } ] } }, { "isoform_ac": "P04424-2", "url": "", "sequence": { "sequence": "MASESGKLWGGRFVGAVDPIMEKFNASIAYDRHLWEVDVQGSKAYSRGLEKAGLLTKAEMDQILHGLDKVAEEWAQGTFKLNSNDEDIHTANERRLKELIGATAGKLHTGRSRNDQVVTDLRLWMRQTCSTLSGLLWELIRTMVDRAEAERDVLFPGYTHLQRAQPIRWSHWILSHAVALTRDSERLLEVRKRINVLPLGSGAIAGNPLGVDRELLRAELNFGAITLNSMDATSERDFVAEFLFWASLCMTHLSRMAEDLILYCTKEFSFVQLSDAYSTGSSLMPQKKNPDSLELIRSKAGRVFGREDKEAVFEVSDTMSAVLQVATGVISTLQIHQENMGQALSPDMLATDLAYYLVRKGMPFRQAHEASGKAVFMAETKGVALNQLSLQELQTISPLFSGDVICVWDYGHSVEQYGALGGTARSSVDWQIRQVRALLQAQQA", "length": 444, "header": "sp|P04424-2|ARLY_HUMAN Isoform 2 of Argininosuccinate lyase OS=Homo sapiens OX=9606 GN=ASL PE=1 SV=4 CANONICAL=P04424-1" }, "locus": { "chromosome": "7", "start_pos": 66092909, "end_pos": 66076082, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000395331.4", "url": "https://www.ensembl.org/id/ENST00000395331.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000378740.3", "url": "https://www.ensembl.org/id/ENSP00000378740.3" } ] } }, { "isoform_ac": "P04424-3", "url": "", "sequence": { "sequence": "MASESGKLWGGRFVGAVDPIMEKFNASIAYDRHLWEVDVQGSKAYSRGLEKAGLLTKAEMDQILHGLDKVAEEWAQGTFKLNSNDEDIHTANERRLKELIGATAGKLHTGRSRNDQVVTDLRLWMRQTCSTLSGLLWELIRTMVDRAEAERDVLFPGYTHLQRAQPIRWSHWILSGAIAGNPLGVDRELLRAELNFGAITLNSMDATSERDFVAEFLFWASLCMTHLSRMAEDLILYCTKEFSFVQLSDAYSTGSSLMPQKKNPDSLELIRSKAGRVFGRCAGLLMTLKGLPSTYNKDLQEDKEAVFEVSDTMSAVLQVATGVISTLQIHQENMGQALSPDMLATDLAYYLVRKGMPFRQAHEASGKAVFMAETKGVALNQLSLQELQTISPLFSGDVICVWDYGHSVEQYGALGGTARSSVDWQIRQVRALLQAQQA", "length": 438, "header": "sp|P04424-3|ARLY_HUMAN Isoform 3 of Argininosuccinate lyase OS=Homo sapiens OX=9606 GN=ASL PE=1 SV=4 CANONICAL=P04424-1" }, "locus": { "chromosome": "7", "start_pos": 66092909, "end_pos": 66076082, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000380839.9", "url": "https://www.ensembl.org/id/ENST00000380839.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000370219.4", "url": "https://www.ensembl.org/id/ENSP00000370219.4" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.", "journal": "Nature genetics", "date": "1999", "authors": "Camacho JA, Obie C, Biery B, Goodman BK, Hu CA, Almashanu S, Steel G, Casey R, Lambert M, Mitchell GA, Valle D", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "10369256", "url": "https://glygen.org/publication/PubMed/10369256" } ] }, { "title": "Human ornithine transcarbamylase: crystallographic insights into substrate recognition and conformational changes.", "journal": "The Biochemical journal", "date": "2001", "authors": "Shi D, Morizono H, Yu X, Tong L, Allewell NM, Tuchman M", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "11237854", "url": "https://glygen.org/publication/PubMed/11237854" } ] }, { "title": "Three-dimensional structure of the argininosuccinate lyase frequently complementing allele Q286R.", "journal": "Biochemistry", "date": "2001", "authors": "Sampaleanu LM, Vallee F, Thompson GD, Howell PL", "evidence": [ { "database": "UniProtKB", "id": "P04424", "url": "https://www.uniprot.org/uniprot/P04424" } ], "reference": [ { "type": "PubMed", "id": "11747432", "url": "https://glygen.org/publication/PubMed/11747432" } ] }, { "title": "Mechanisms for intragenic complementation at the human argininosuccinate lyase locus.", "journal": "Biochemistry", "date": "2001", "authors": "Yu B, Thompson GD, Yip P, Howell PL, Davidson AR", "evidence": [ { "database": "UniProtKB", "id": "P04424", "url": "https://www.uniprot.org/uniprot/P04424" } ], "reference": [ { "type": "PubMed", "id": "11747433", "url": "https://glygen.org/publication/PubMed/11747433" } ] }, { "title": "Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.", "journal": "Journal of inherited metabolic disease", "date": "2002", "authors": "Kleijer WJ, Garritsen VH, Linnebank M, Mooyer P, Huijmans JG, Mustonen A, Simola KO, Arslan-Kirchner M, Battini R, Briones P, Cardo E, Mandel H, Tschiedel E, Wanders RJ, Koch HG", "evidence": [ { "database": "UniProtKB", "id": "P04424", "url": "https://www.uniprot.org/uniprot/P04424" } ], "reference": [ { "type": "PubMed", "id": "12408190", "url": "https://glygen.org/publication/PubMed/12408190" } ] }, { "title": "Cloning and expression of the human N-acetylglutamate synthase gene.", "journal": "Biochemical and biophysical research communications", "date": "2002", "authors": "Caldovic L, Morizono H, Gracia Panglao M, Gallegos R, Yu X, Shi D, Malamy MH, Allewell NM, Tuchman M", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "12459178", "url": "https://glygen.org/publication/PubMed/12459178" } ] }, { "title": "The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Fiermonte G, Dolce V, David L, Santorelli FM, Dionisi-Vici C, Palmieri F, Walker JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "12807890", "url": "https://glygen.org/publication/PubMed/12807890" } ] }, { "title": "Human arginase II: crystal structure and physiological role in male and female sexual arousal.", "journal": "Biochemistry", "date": "2003", "authors": "Cama E, Colleluori DM, Emig FA, Shin H, Kim SW, Kim NN, Traish AM, Ash DE, Christianson DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "12859189", "url": "https://glygen.org/publication/PubMed/12859189" } ] }, { "title": "Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea cycle disorder.", "journal": "Molecular genetics and metabolism", "date": "2003", "authors": "Camacho JA, Rioseco-Camacho N, Andrade D, Porter J, Kong J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "12948741", "url": "https://glygen.org/publication/PubMed/12948741" } ] }, { "title": "Mammalian N-acetylglutamate synthase.", "journal": "Molecular genetics and metabolism", "date": "2004", "authors": "Morizono H, Caldovic L, Shi D, Tuchman M", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "15050968", "url": "https://glygen.org/publication/PubMed/15050968" } ] }, { "title": "Crystal structure of human arginase I at 1.29-A resolution and exploration of inhibition in the immune response.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Di Costanzo L, Sabio G, Mora A, Rodriguez PC, Ochoa AC, Centeno F, Christianson DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "16141327", "url": "https://glygen.org/publication/PubMed/16141327" } ] }, { "title": "The consensus coding sequences of human breast and colorectal cancers.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE", "evidence": [ { "database": "UniProtKB", "id": "P04424", "url": "https://www.uniprot.org/uniprot/P04424" } ], "reference": [ { "type": "PubMed", "id": "16959974", "url": "https://glygen.org/publication/PubMed/16959974" } ] }, { "title": "Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Barbosa P, Cialkowski M, O'Brien WE", "evidence": [ { "database": "UniProtKB", "id": "P04424", "url": "https://www.uniprot.org/uniprot/P04424" } ], "reference": [ { "type": "PubMed", "id": "1705937", "url": "https://glygen.org/publication/PubMed/1705937" } ] }, { "title": "Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.", "journal": "Human mutation", "date": "2007", "authors": "Trevisson E, Salviati L, Baldoin MC, Toldo I, Casarin A, Sacconi S, Cesaro L, Basso G, Burlina AB", "evidence": [ { "database": "UniProtKB", "id": "P04424", "url": "https://www.uniprot.org/uniprot/P04424" } ], "reference": [ { "type": "PubMed", "id": "17326097", "url": "https://glygen.org/publication/PubMed/17326097" } ] }, { "title": "Restructuring of the dinucleotide-binding fold in an NADP(H) sensor protein.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Zheng X, Dai X, Zhao Y, Chen Q, Lu F, Yao D, Yu Q, Liu X, Zhang C, Gu X, Luo M", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "17496144", "url": "https://glygen.org/publication/PubMed/17496144" } ] }, { "title": "An NADPH sensor protein (HSCARG) down-regulates nitric oxide synthesis by association with argininosuccinate synthetase and is essential for epithelial cell viability.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Zhao Y, Zhang J, Li H, Li Y, Ren J, Luo M, Zheng X", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "18263583", "url": "https://glygen.org/publication/PubMed/18263583" } ] }, { "title": "Structure of human argininosuccinate synthetase.", "journal": "Acta crystallographica. Section D, Biological crystallography", "date": "2008", "authors": "Karlberg T, Collins R, van den Berg S, Flores A, Hammarstrom M, Hogbom M, Holmberg Schiavone L, Uppenberg J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "18323623", "url": "https://glygen.org/publication/PubMed/18323623" } ] }, { "title": "Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.", "journal": "Human mutation", "date": "2009", "authors": "Engel K, Hohne W, Haberle J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "19006241", "url": "https://glygen.org/publication/PubMed/19006241" } ] }, { "title": "Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Trevisson E, Burlina A, Doimo M, Pertegato V, Casarin A, Cesaro L, Navas P, Basso G, Sartori G, Salviati L", "evidence": [ { "database": "UniProtKB", "id": "P04424", "url": "https://www.uniprot.org/uniprot/P04424" } ], "reference": [ { "type": "PubMed", "id": "19703900", "url": "https://glygen.org/publication/PubMed/19703900" } ] }, { "title": "Regulation of cellular metabolism by protein lysine acetylation.", "journal": "Science (New York, N.Y.)", "date": "2010", "authors": "Zhao S, Xu W, Jiang W, Yu W, Lin Y, Zhang T, Yao J, Zhou L, Zeng Y, Li H, Li Y, Shi J, An W, Hancock SM, He F, Qin L, Chin J, Yang P, Chen X, Lei Q, Xiong Y, Guan KL", "evidence": [ { "database": "UniProtKB", "id": "P04424", "url": "https://www.uniprot.org/uniprot/P04424" } ], "reference": [ { "type": "PubMed", "id": "20167786", "url": "https://glygen.org/publication/PubMed/20167786" } ] }, { "title": "Requirement of argininosuccinate lyase for systemic nitric oxide production.", "journal": "Nature medicine", "date": "2011", "authors": "Erez A, Nagamani SC, Shchelochkov OA, Premkumar MH, Campeau PM, Chen Y, Garg HK, Li L, Mian A, Bertin TK, Black JO, Zeng H, Tang Y, Reddy AK, Summar M, O'Brien WE, Harrison DG, Mitch WE, Marini JC, Aschner JL, Bryan NS, Lee B", "evidence": [ { "database": "UniProtKB", "id": "P04424", "url": "https://www.uniprot.org/uniprot/P04424" } ], "reference": [ { "type": "PubMed", "id": "22081021", "url": "https://glygen.org/publication/PubMed/22081021" } ] }, { "title": "Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1990", "authors": "Walker DC, McCloskey DA, Simard LR, McInnes RR", "evidence": [ { "database": "UniProtKB", "id": "P04424", "url": "https://www.uniprot.org/uniprot/P04424" }, { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "2263616", "url": "https://glygen.org/publication/PubMed/2263616" } ] }, { "title": "Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.", "journal": "Human mutation", "date": "2014", "authors": "Balmer C, Pandey AV, Rufenacht V, Nuoffer JM, Fang P, Wong LJ, Haberle J", "evidence": [ { "database": "UniProtKB", "id": "P04424", "url": "https://www.uniprot.org/uniprot/P04424" } ], "reference": [ { "type": "PubMed", "id": "24166829", "url": "https://glygen.org/publication/PubMed/24166829" } ] }, { "title": "cDNA sequence, interspecies comparison, and gene mapping analysis of argininosuccinate lyase.", "journal": "Genomics", "date": "1989", "authors": "Todd S, McGill JR, McCombs JL, Moore CM, Weider I, Naylor SL", "evidence": [ { "database": "UniProtKB", "id": "P04424", "url": "https://www.uniprot.org/uniprot/P04424" } ], "reference": [ { "type": "PubMed", "id": "2644168", "url": "https://glygen.org/publication/PubMed/2644168" } ] }, { "title": "Clinical and genetic analysis of five Chinese patients with urea cycle disorders.", "journal": "Molecular genetics & genomic medicine", "date": "2020", "authors": "Zheng Z, Lin Y, Lin W, Zhu L, Jiang M, Wang W, Fu Q", "evidence": [ { "database": "RefSeq", "id": "NP_000039", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000039" } ], "reference": [ { "type": "PubMed", "id": "32410394", "url": "https://glygen.org/publication/PubMed/32410394" } ] }, { "title": "Gene sharing by delta-crystallin and argininosuccinate lyase.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1988", "authors": "Piatigorsky J, O'Brien W E, Norman B L, Kalumuck K, Wistow G J, Borras T, Nickerson J M, Wawrousek E F", "evidence": [ { "database": "UniProtKB", "id": "P04424", "url": "https://www.uniprot.org/uniprot/P04424" } ], "reference": [ { "type": "PubMed", "id": "3368457", "url": "https://glygen.org/publication/PubMed/3368457" } ] }, { "title": "Biomarkers for liver disease in urea cycle disorders.", "journal": "Molecular genetics and metabolism", "date": "2021", "authors": "Nagamani SCS, Ali S, Izem R, Schady D, Masand P, Shneider BL, Leung DH, Burrage LC", "evidence": [ { "database": "RefSeq", "id": "NP_000039", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000039" } ], "reference": [ { "type": "PubMed", "id": "33846069", "url": "https://glygen.org/publication/PubMed/33846069" } ] }, { "title": "Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review.", "journal": "American journal of medical genetics. Part A", "date": "2021", "authors": "Kido J, Matsumoto S, Sugawara K, Sawada T, Nakamura K", "evidence": [ { "database": "RefSeq", "id": "NP_000039", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000039" } ], "reference": [ { "type": "PubMed", "id": "33851512", "url": "https://glygen.org/publication/PubMed/33851512" } ] }, { "title": "Isolation of cDNA clones of human argininosuccinate lyase and corrected amino acid sequence.", "journal": "FEBS Lett.", "date": "1988", "authors": "Matuo S, Tatsuno M, Kobayashi K, Saheki T, Miyata T, Iwanaga S, Amaya Y, Mori M", "evidence": [ { "database": "UniProtKB", "id": "P04424", "url": "https://www.uniprot.org/uniprot/P04424" } ], "reference": [ { "type": "PubMed", "id": "3391281", "url": "https://glygen.org/publication/PubMed/3391281" } ] }, { "title": "Cloning and sequence analysis of cDNA for human argininosuccinate lyase.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1986", "authors": "O'Brien W E, McInnes R, Kalumuck K, Adcock M", "evidence": [ { "database": "UniProtKB", "id": "P04424", "url": "https://www.uniprot.org/uniprot/P04424" } ], "reference": [ { "type": "PubMed", "id": "3463959", "url": "https://glygen.org/publication/PubMed/3463959" } ] }, { "title": "Argininosuccinate lyase deficiency causes blood-brain barrier disruption via nitric oxide-mediated dysregulation of claudin expression.", "journal": "JCI insight", "date": "2023-07-25", "authors": "Kho Jordan, Polak Urszula, Jiang Ming-Ming, Odom John D, Hunter Jill V, Ali Saima M, Burrage Lindsay C, Nagamani Sandesh Cs, Pautler Robia G, Thompson Hannah P, Urayama Akihiko, Jin Zixue, Lee Brendan", "evidence": [ { "database": "RefSeq", "id": "NP_000039", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000039" } ], "reference": [ { "type": "PubMed", "id": "37490345", "url": "https://glygen.org/publication/PubMed/37490345" } ] }, { "title": "Isolation and characterization of argininosuccinate synthetase from human liver.", "journal": "Biochemistry", "date": "1979", "authors": "O'Brien WE", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "518841", "url": "https://glygen.org/publication/PubMed/518841" } ] }, { "title": "Human carbamylphosphate synthetase I. Stabilization, purification, and partial characterization of the enzyme from human liver.", "journal": "The Journal of biological chemistry", "date": "1980", "authors": "Pierson DL, Brien JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "6249820", "url": "https://glygen.org/publication/PubMed/6249820" } ] }, { "title": "Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase.", "journal": "Science (New York, N.Y.)", "date": "1984", "authors": "Horwich AL, Fenton WA, Williams KR, Kalousek F, Kraus JP, Doolittle RF, Konigsberg W, Rosenberg LE", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "6372096", "url": "https://glygen.org/publication/PubMed/6372096" } ] }, { "title": "Molecular basis of phenotypic variation in patients with argininemia.", "journal": "Human genetics", "date": "1995", "authors": "Uchino T, Snyderman SE, Lambert M, Qureshi IA, Shapira SK, Sansaricq C, Smit LM, Jakobs C, Matsuda I", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "7649538", "url": "https://glygen.org/publication/PubMed/7649538" } ] }, { "title": "Molecular cloning of cDNA for nonhepatic mitochondrial arginase (arginase II) and comparison of its induction with nitric oxide synthase in a murine macrophage-like cell line.", "journal": "FEBS letters", "date": "1996", "authors": "Gotoh T, Sonoki T, Nagasaki A, Terada K, Takiguchi M, Mori M", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "8898077", "url": "https://glygen.org/publication/PubMed/8898077" } ] }, { "title": "Intragenic complementation at the human argininosuccinate lyase locus. Identification of the major complementing alleles.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Walker DC, Christodoulou J, Craig HJ, Simard LR, Ploder L, Howell PL, McInnes RR", "evidence": [ { "database": "UniProtKB", "id": "P04424", "url": "https://www.uniprot.org/uniprot/P04424" } ], "reference": [ { "type": "PubMed", "id": "9045711", "url": "https://glygen.org/publication/PubMed/9045711" } ] }, { "title": "Human argininosuccinate lyase: a structural basis for intragenic complementation.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1997", "authors": "Turner MA, Simpson A, McInnes RR, Howell PL", "evidence": [ { "database": "UniProtKB", "id": "P04424", "url": "https://www.uniprot.org/uniprot/P04424" }, { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "9256435", "url": "https://glygen.org/publication/PubMed/9256435" } ] }, { "title": "The human arginases and arginase deficiency.", "journal": "Journal of inherited metabolic disease", "date": "1998", "authors": "Iyer R, Jenkinson CP, Vockley JG, Kern RM, Grody WW, Cederbaum S", "evidence": [ { "database": "Reactome", "id": "R-HSA-70635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635" } ], "reference": [ { "type": "PubMed", "id": "9686347", "url": "https://glygen.org/publication/PubMed/9686347" } ] } ], "pathway": [ { "id": "hsa:435", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:435", "resource": "KEGG Pathway" }, { "id": "R-HSA-70635", "name": "Urea cycle", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70635", "resource": "Reactome", "description": "Urea cycle" } ], "orthologs": [ { "uniprot_canonical_ac": "P04076-1", "protein_name": "Argininosuccinate lyase", "gene_name": "ARG4", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MSDGTQKLWGGRFTGETDPLMHLYNASLPYDYKMYKADLEGTKVYTAGLQKLGLLTETELAKIHEGLAEIKKEWDADKFVRHPNDEDIHTANERRLGELIGRDIAGKVHTGRSRNDQVVTDLRIYCRDIVNDTLFPALKGLVEVLIKRAEGEIDVLMPGYTHLQRAQPIRWSHWLSSYATYFTEDYKRLGQILHRLNQSPLGAGALAGHPYGIDREFLAEGLGFNSVIGNSLVAVSDRDFIVELMFWGTLFMNHISRFAEDLIIYCTAEFGFIQLSDAYSTGSSLMPQKKNADSLELLRGKSGRVFGDLTGFLMSLKGIPSTYDKDMQEDKEPLFDCLTTVEHSMLIATGVISTLTVNKEKMEAALTMDMLATDLADYLVRKGVPFRETHHISGECVATAERLGLSGIDKLTLEQYQKIDSRFGQDLFETFNFEQSVERRDATGGTAKSAVLKQLDNLKSQLN", "length": 463 }, "evidence": [ { "id": "P04424", "url": "https://omabrowser.org/oma/group/P04424/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "P20673-1", "protein_name": "Argininosuccinate lyase", "gene_name": "Asl", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MASESGKLWGGRFAGSVDPTMDKFNSSIAYDRHLWNVDLQGSKAYSRGLEKAGLLTKAEMQQILQGLDKVAEEWAQGIFKLYPNDEDIHTANERRLKELIGEAAGKLHTGRSRNDQVVTDLRLWMRQTYSKLSTFLKVLIEAMVDRAEAECEVLFPGYTHLQRAQPIRWSHWILSHAVALTRDLERLKEVQKRINVLPLGSGAIAGNPLGVDREFLCAELNFGAITLNSMDATSERDFVAEFLFWASLCMTHLSRMAEDLILYGTKEFNFVQLSDAYSTGSSLMPQKKNPDSLELIRSKARRVFGRCAGLLMTLKGLPSTYNKDLQEDKEAVFEVSDTMTAVLQVATGVISTLQIHRENMAQALSPDMLATDLAYYLVRKGMPFRQAHEASGKAVVVAEMKGVALNQLSLQELQTVSPLFSSDVNLVWDYSHSVEQYTALGGTAQSSVEWQISQVRALLQM", "length": 461 }, "evidence": [ { "id": "45924612", "url": "http://www.informatics.jax.org/homology/45924612", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q91YI0-1", "protein_name": "Argininosuccinate lyase", "gene_name": "Asl", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MASESGKLWGGRFVGAVDPIMEKFNSSISYDRHLWNVDVQGSKAYSRGLEKAGLLTKAEMQQILQGLDKVAEEWAQGTFKLHPNDEDIHTANERRLKELIGEAAGKLHTGRSRNDQVVTDLRLWMRQTCSKLSALLRVLIGTMVDRAEAERDVLFPGYTHLQRAQPIRWSHWILSHAVALTRDSERLLEVQKRINVLPLGSGAIAGNPLGVDRELLRAELNFGAITLNSMDATSERDFVAEFLFWASLCMTHLSRMAEDLILYGTKEFSFVQLSDAYSTGSSLMPQKKNPDSLELIRSKAGRVFGRCAGLLMTLKGLPSTYNKDLQEDKEAVFEVSDTMIAVLQVATGVISTLQIHRENMKQALSPDMLATDLAYYLVRKGMPFRQAHEASGKAVFMAETKGVALNLLSLQELQTISPLFSGDVSHVWDYSHSVEQYSALGGTAKSSVEWQIRQVRALLQAQEP", "length": 464 }, "evidence": [ { "id": "45924612", "url": "http://www.informatics.jax.org/homology/45924612", "database": "MGI" }, { "id": "P04424", "url": "https://omabrowser.org/oma/group/P04424/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9VLG9-1", "protein_name": "Argininosuccinate lyase, isoform B", "gene_name": "Argl", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MTQIPESCYKMWGGRFTEGPHEALHSLNNSLPYDSRLYADDLDASKAYAEALHRAGLINSAEADKLVKNLELLRFDWIEGTVKILPGDEDVHTVNERLLVEITGELGQRLHTGRSRNDQVVTDMKLWLRKAIRETLGRLSGIIETATRQAELHLGVLMPGYTHLQRAQTVQFSHWLLSHAFALREDGQRLLELRDRANVLPLGSGALAGNPLGIDRLWLAERLGFSGVTANSMHAVGDRDFVVDFIYCCSMVSLHLSRLAEDLIIYSTKEFDFIKLADGFSSGSSLMPQKRNPDSLELIRGMAGVITANLTGIMMTIKGTPSTYNKDLQYDKQFCFQSFDKLSQVLEVTDGVLQTIQVKQESMEAALSTDMLATDWAYYLVKKGVPFRQAHHIIGRVVSEAEKRGVDITDLPLGDLQKFSPLFGSDIVAVADYSNNVQQYNAIGGTASSSIVEQLRLLKKCARDLAKQS", "length": 469 }, "evidence": [ { "id": "P04424", "url": "https://omabrowser.org/oma/group/P04424/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 8, "go_terms": [ { "name": "urea cycle", "id": "GO:0000050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000050", "evidence": [ { "database": "UniProtKB", "id": "P04424", "url": "https://www.uniprot.org/uniprot/P04424" } ], "pmid": "" }, { "name": "arginine biosynthetic process via ornithine", "id": "GO:0042450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042450", "evidence": [ { "database": "UniProtKB", "id": "P04424", "url": "https://www.uniprot.org/uniprot/P04424" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "P04424", "url": "https://www.uniprot.org/uniprot/P04424" } ], "pmid": "" }, { "name": "positive regulation of nitric oxide biosynthetic process", "id": "GO:0045429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045429", "evidence": [ { "database": "UniProtKB", "id": "P04424", "url": "https://www.uniprot.org/uniprot/P04424" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "P04424", "url": "https://www.uniprot.org/uniprot/P04424" } ], "pmid": "" }, { "name": "arginine biosynthetic process", "id": "GO:0006526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006526", "evidence": [ { "database": "UniProtKB", "id": "P04424", "url": "https://www.uniprot.org/uniprot/P04424" } ], "pmid": "" }, { "name": "arginine metabolic process", "id": "GO:0006525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006525", "evidence": [ { "database": "UniProtKB", "id": "P04424", "url": "https://www.uniprot.org/uniprot/P04424" } ], "pmid": "" }, { "name": "ammonia assimilation cycle", "id": "GO:0019676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019676", "evidence": [ { "database": "UniProtKB", "id": "P04424", "url": "https://www.uniprot.org/uniprot/P04424" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "argininosuccinate lyase activity", "id": "GO:0004056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004056", "evidence": [ { "database": "UniProtKB", "id": "P04424", "url": "https://www.uniprot.org/uniprot/P04424" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P04424", "url": "https://www.uniprot.org/uniprot/P04424" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P04424", "url": "https://www.uniprot.org/uniprot/P04424" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P04424", "url": "https://www.uniprot.org/uniprot/P04424" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P04424", "url": "https://www.uniprot.org/uniprot/P04424" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 25, "end_pos": 27, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Acetylation modifies enzyme activity in response to alterations of extracellular nutrient availability. Acetylation increased with trichostin A (TSA) or with nicotinamide (NAM). Glucose increases acetylation by about a factor of 3 with decreasing enzyme activity. Acetylation on Lys-288 is decreased on the addition of extra amino acids resulting in activation of enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "P04424", "url": "https://www.uniprot.org/uniprot/P04424" }, { "database": "PubMed", "id": "20167786", "url": "https://glygen.org/publication/PubMed/20167786" } ] } ], "interactions": [], "reactions": [ { "id": "24020", "name": "", "equation": "2-(N(omega)-L-arginino)succinate = fumarate + L-arginine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P20673-1", "P04424-1", "Q91YI0-1", "P04076-1" ], "evidence": [ { "id": "24020", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/24020" } ] }, { "id": "R-HSA-70573", "name": "argininosuccinate <=> fumarate + arginine", "equation": "", "summary": "Cytosolic argininosuccinate lyase (ASL) catalyzes the reversible reaction of argininosuccinate to form fumarate and arginine. The enzyme is a homotetramer (Turner et al. 1997). The function of the human enzyme in vivo is inferred from the defective argininosuccinate lyase enzyme activity observed in patients with mutant forms of the ASL gene (e.g., Walker et al. 1990).", "cellular_location": "cytosol", "input_participant_list": [ "R-ALL-34575" ], "output_participant_list": [ "R-ALL-29586" ], "enzyme_list": [ "P04424-1" ], "evidence": [ { "id": "R-HSA-70573", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70573" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-29586", "participant_name": "FUMA [cytosol]", "crossref": [ { "id": "C00122", "database": "COMPOUND", "url": "" }, { "id": "29806", "database": "ChEBI", "url": "" }, { "id": "C00122", "database": "KEGG Gene", "url": "" }, { "id": "110-17-8", "database": "CAS", "url": "" }, { "id": "FUM", "database": "AraCyc", "url": "" }, { "id": "5460307", "database": "PubChem Compound", "url": "" }, { "id": "C00001183", "database": "KNApSAcK", "url": "" }, { "id": "FUM", "database": "AraCyc", "url": "" }, { "id": "C00122", "database": "COMPOUND", "url": "" }, { "id": "C00122", "database": "KEGG Gene", "url": "" }, { "id": "C00001183", "database": "KNApSAcK", "url": "" }, { "id": "110-17-8", "database": "CAS", "url": "" }, { "id": "29806", "database": "ChEBI", "url": "" }, { "id": "5460307", "database": "PubChem Compound", "url": "" }, { "id": "C00122", "database": "COMPOUND", "url": "" }, { "id": "29806", "database": "ChEBI", "url": "" }, { "id": "C00122", "database": "KEGG Gene", "url": "" }, { "id": "110-17-8", "database": "CAS", "url": "" }, { "id": "FUM", "database": "AraCyc", "url": "" }, { "id": "5460307", "database": "PubChem Compound", "url": "" }, { "id": "C00001183", "database": "KNApSAcK", "url": "" }, { "id": "C00122", "database": "COMPOUND", "url": "" }, { "id": "29806", "database": "ChEBI", "url": "" }, { "id": "C00122", "database": "KEGG Gene", "url": "" }, { "id": "110-17-8", "database": "CAS", "url": "" }, { "id": "FUM", "database": "AraCyc", "url": "" }, { "id": "5460307", "database": "PubChem Compound", "url": "" }, { "id": "C00001183", "database": "KNApSAcK", "url": "" }, { "id": "C00001183", "database": "KNApSAcK", "url": "" }, { "id": "C00122", "database": "KEGG Gene", "url": "" }, { "id": "FUM", "database": "AraCyc", "url": "" }, { "id": "C00122", "database": "COMPOUND", "url": "" }, { "id": "29806", "database": "ChEBI", "url": "" }, { "id": "5460307", "database": "PubChem Compound", "url": "" }, { "id": "110-17-8", "database": "CAS", "url": "" }, { "id": "C00122", "database": "COMPOUND", "url": "" }, { "id": "29806", "database": "ChEBI", "url": "" }, { "id": "C00122", "database": "KEGG Gene", "url": "" }, { "id": "110-17-8", "database": "CAS", "url": "" }, { "id": "FUM", "database": "AraCyc", "url": "" }, { "id": "5460307", "database": "PubChem Compound", "url": "" }, { "id": "C00001183", "database": "KNApSAcK", "url": "" }, { "id": "C00122", "database": "COMPOUND", "url": "" }, { "id": "29806", "database": "ChEBI", "url": "" }, { "id": "C00122", "database": "KEGG Gene", "url": "" }, { "id": "110-17-8", "database": "CAS", "url": "" }, { "id": "FUM", "database": "AraCyc", "url": "" }, { "id": "5460307", "database": "PubChem Compound", "url": "" }, { "id": "C00001183", "database": "KNApSAcK", "url": "" } ] }, { "participant_id": "R-ALL-34575", "participant_name": "ARSUA [cytosol]", "crossref": [ { "id": "C03406", "database": "COMPOUND", "url": "" }, { "id": "57472", "database": "ChEBI", "url": "" }, { "id": "000001529647", "database": "ZINC", "url": "" }, { "id": "000001529646", "database": "ZINC", "url": "" }, { "id": "C03406", "database": "COMPOUND", "url": "" }, { "id": "57472", "database": "ChEBI", "url": "" }, { "id": "000001529647", "database": "ZINC", "url": "" }, { "id": "000001529646", "database": "ZINC", "url": "" }, { "id": "57472", "database": "ChEBI", "url": "" }, { "id": "000001529646", "database": "ZINC", "url": "" }, { "id": "C03406", "database": "COMPOUND", "url": "" }, { "id": "000001529647", "database": "ZINC", "url": "" }, { "id": "C03406", "database": "COMPOUND", "url": "" }, { "id": "57472", "database": "ChEBI", "url": "" }, { "id": "000001529647", "database": "ZINC", "url": "" }, { "id": "000001529646", "database": "ZINC", "url": "" }, { "id": "000001529647", "database": "ZINC", "url": "" }, { "id": "C03406", "database": "COMPOUND", "url": "" }, { "id": "000001529646", "database": "ZINC", "url": "" }, { "id": "57472", "database": "ChEBI", "url": "" }, { "id": "000001529646", "database": "ZINC", "url": "" }, { "id": "57472", "database": "ChEBI", "url": "" }, { "id": "C03406", "database": "COMPOUND", "url": "" }, { "id": "000001529647", "database": "ZINC", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "P04076", "gene_name": "ARG4", "activity": [ { "ec_number": "4.3.2.1", "activity": "2-(N(omega)-L-arginino)succinate = fumarate + L-arginine.", "evidence": [ { "id": "P04076", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04076" } ] }, { "ec_number": "4.3.2.1", "activity": "", "evidence": [ { "id": "P04076", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04076" } ] } ] }, { "uniprot_ac": "P04424", "gene_name": "ASL", "activity": [ { "ec_number": "4.3.2.1", "activity": "2-(N(omega)-L-arginino)succinate = fumarate + L-arginine.", "evidence": [ { "id": "P04424", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04424" } ] }, { "ec_number": "4.3.2.1", "activity": "", "evidence": [ { "id": "P04424", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04424" } ] } ] }, { "uniprot_ac": "P20673", "gene_name": "Asl", "activity": [ { "ec_number": "4.3.2.1", "activity": "2-(N(omega)-L-arginino)succinate = fumarate + L-arginine.", "evidence": [ { "id": "P20673", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20673" } ] }, { "ec_number": "4.3.2.1", "activity": "", "evidence": [ { "id": "P20673", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20673" } ] } ] }, { "uniprot_ac": "Q91YI0", "gene_name": "Asl", "activity": [ { "ec_number": "4.3.2.1", "activity": "2-(N(omega)-L-arginino)succinate = fumarate + L-arginine.", "evidence": [ { "id": "Q91YI0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91YI0" } ] }, { "ec_number": "4.3.2.1", "activity": "", "evidence": [ { "id": "Q91YI0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91YI0" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 25, "end_pos": 27 } ] }, "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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 39 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }