{ "uniprot_canonical_ac": "P01034-1", "uniprot_ac": "P01034", "uniprot_id": "CYTC_HUMAN", "mass": { "chemical_mass": 15799.0, "monoisotopic_mass": 15799.0 }, "refseq": { "ac": "NP_000090", "name": "cystatin-C precursor", "summary": "The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes the most abundant extracellular inhibitor of cysteine proteases, which is found in high concentrations in biological fluids and is expressed in virtually all organs of the body. A mutation in this gene has been associated with amyloid angiopathy. Expression of this protein in vascular wall smooth muscle cells is severely reduced in both atherosclerotic and aneurysmal aortic lesions, establishing its role in vascular disease. In addition, this protein has been shown to have an antimicrobial function, inhibiting the replication of herpes simplex virus. Alternative splicing results in multiple transcript variants encoding a single protein. [provided by RefSeq, Nov 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000090" }, "gene_names": [ { "name": "CST3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P01034", "id": "P01034" }, { "name": "ARMD11; HEL-S-2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000090", "id": "NP_000090" }, { "name": "CST3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000090", "id": "NP_000090" } ], "protein_names": [ { "name": "Cystatin-C", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P01034" }, { "name": "Cystatin-3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01034" }, { "name": "Gamma-trace", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01034" }, { "name": "Neuroendocrine basic polypeptide", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01034" }, { "name": "Post-gamma-globulin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01034" }, { "name": "cystatin 3; gamma-trace; post-gamma-globulin; neuroendocrine basic polypeptide; bA218C14.4 (cystatin C); epididymis secretory protein Li 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000090", "id": "NP_000090" }, { "name": "cystatin-C precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000090", "id": "NP_000090" } ], "function": [ { "annotation": "As an inhibitor of cysteine proteinases, this protein is thought to serve an important physiological role as a local regulator of this enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "P01034", "url": "https://www.uniprot.org/uniprot/P01034#function" } ] }, { "annotation": "CST3 exhibits an antimicrobial activity against herpes simplex virus.", "evidence": [ { "database": "RefSeq", "id": "NP_000090", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000090" }, { "database": "PubMed", "id": "2153254", "url": "https://glygen.org/publication/PubMed/2153254" } ] }, { "annotation": "Determination of cystatin C reference interval for children in Croatia.", "evidence": [ { "database": "RefSeq", "id": "NP_000090", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000090" }, { "database": "PubMed", "id": "38125620", "url": "https://glygen.org/publication/PubMed/38125620" } ] }, { "annotation": "Human cystatin C induces the disaggregation process of selected amyloid beta peptides: a structural and kinetic view. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000090", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000090" }, { "database": "PubMed", "id": "38012338", "url": "https://glygen.org/publication/PubMed/38012338" } ] }, { "annotation": "Serum cystatin C for risk stratification of prediabetes and diabetes populations.", "evidence": [ { "database": "RefSeq", "id": "NP_000090", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000090" }, { "database": "PubMed", "id": "37898064", "url": "https://glygen.org/publication/PubMed/37898064" } ] }, { "annotation": "Serum cystatin C predicts the risk of non-ST-elevation acute coronary syndrome. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000090", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000090" }, { "database": "PubMed", "id": "38041201", "url": "https://glygen.org/publication/PubMed/38041201" } ] }, { "annotation": "The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes the most abundant extracellular inhibitor of cysteine proteases, which is found in high concentrations in biological fluids and is expressed in virtually all organs of the body. A mutation in this gene has been associated with amyloid angiopathy. Expression of this protein in vascular wall smooth muscle cells is severely reduced in both atherosclerotic and aneurysmal aortic lesions, establishing its role in vascular disease. In addition, this protein has been shown to have an antimicrobial function, inhibiting the replication of herpes simplex virus. Alternative splicing results in multiple transcript variants encoding a single protein. [provided by RefSeq, Nov 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_000090", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000090" } ] }, { "annotation": "The value of serum lipoprotein-associated phospholipase A2, ischemia-modified albumin, and cystatin C in predicting coronary heart disease risk: a single center retrospective cohort study.", "evidence": [ { "database": "RefSeq", "id": "NP_000090", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000090" }, { "database": "PubMed", "id": "37975398", "url": "https://glygen.org/publication/PubMed/37975398" } ] } ], "disease": [ { "disease_id": "DOID:0070027", "recommended_name": { "id": "DOID:0070027", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070027", "name": "CST3-related cerebral amyloid angiopathy", "description": "A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of the CST3 gene on chromosome 20p11.21." }, "synonyms": [ { "id": "DOID:0070027", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070027", "name": "Amyloidosis VI", "description": "" }, { "id": "DOID:0070027", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070027", "name": "Amyloidosis, Cerebroarterial, Icelandic Type", "description": "" }, { "id": "DOID:0070027", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070027", "name": "HCHWA", "description": "" }, { "id": "DOID:0070027", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070027", "name": "Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Variant", "description": "" }, { "id": "DOID:0070027", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070027", "name": "Cerebral Hemorrhage, Hereditary, with Amyloidosis, Icelandic Variant", "description": "" }, { "id": "MONDO:0007098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007098", "name": "ACys amyloidosis", "description": "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages." }, { "id": "MONDO:0007098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007098", "name": "cerebral amyloid angiopathy", "description": "" }, { "id": "MONDO:0007098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007098", "name": "CST3-related amyloidosis", "description": "" }, { "id": "MONDO:0007098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007098", "name": "HCHWA, Icelandic type", "description": "" }, { "id": "MONDO:0007098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007098", "name": "amyloidosis VI", "description": "" }, { "id": "MONDO:0007098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007098", "name": "amyloidosis, Cerebroarterial, Icelandic type", "description": "" }, { "id": "MONDO:0007098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007098", "name": "cerebral hemorrhage, hereditary, with amyloidosis", "description": "" }, { "id": "MONDO:0007098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007098", "name": "cystatin amyloidosis", "description": "" }, { "id": "MONDO:0007098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007098", "name": "hereditary cerebral haemorrhage with amyloidosis", "description": "" }, { "id": "MONDO:0007098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007098", "name": "hereditary cerebral haemorrhage with amyloidosis, Icelandic type", "description": "" }, { "id": "MONDO:0007098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007098", "name": "hereditary cerebral hemorrhage with amyloidosis", "description": "" }, { "id": "MONDO:0007098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007098", "name": "hereditary cerebral hemorrhage with amyloidosis, Icelandic type", "description": "" }, { "id": "MONDO:0007098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007098", "name": "hereditary cystatin C amyloid angiopathy", "description": "" }, { "id": "MONDO:0007098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007098", "name": "CST3-related cerebral amyloid angiopathy", "description": "" }, { "id": "MONDO:0007098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007098", "name": "amyloidosis 6", "description": "" }, { "id": "MONDO:0007098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007098", "name": "cerebral amyloid angiopathy, CST3-related", "description": "" }, { "id": "MIM:105150", "resource": "MIM", "url": "https://www.omim.org/entry/105150", "name": "Amyloidosis 6", "description": "Amyloidosis 6" } ], "evidence": [ { "id": "105150", "database": "MIM", "url": "https://www.omim.org/entry/105150" } ] }, { "disease_id": "DOID:0110023", "recommended_name": { "id": "DOID:0110023", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110023", "name": "age related macular degeneration 11", "description": "An age related macular degeneration conferred by variation in the CST3 gene on chromosome 20p11." }, "synonyms": [ { "id": "DOID:0110023", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110023", "name": "ARMD11", "description": "" }, { "id": "MONDO:0012767", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012767", "name": "age related macular degeneration 11", "description": "Any age-related macular degeneration in which the cause of the disease is a mutation in the CST3 gene." }, { "id": "MONDO:0012767", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012767", "name": "ARMD11", "description": "" }, { "id": "MONDO:0012767", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012767", "name": "CST3 age-related macular degeneration", "description": "" }, { "id": "MONDO:0012767", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012767", "name": "age related macular degeneration type 11", "description": "" }, { "id": "MONDO:0012767", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012767", "name": "age-related macular degeneration caused by mutation in CST3", "description": "" }, { "id": "MONDO:0012767", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012767", "name": "macular Degeneration, age-related, type 11", "description": "" }, { "id": "MONDO:0012767", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012767", "name": "macular degeneration, age-related, 11", "description": "" }, { "id": "MIM:611953", "resource": "MIM", "url": "https://www.omim.org/entry/611953", "name": "Macular degeneration, age-related, 11", "description": "Macular degeneration, age-related, 11" } ], "evidence": [ { "id": "611953", "database": "MIM", "url": "https://www.omim.org/entry/611953" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 25, "end_pos": 25, "sequence_org": "A", "sequence_mut": "S", "comment": "Shows a dual distribution to the Golgi apparatus and to the mitochondria.", "evidence": [ { "database": "UniProtKB", "id": "P01034", "url": "https://www.uniprot.org/uniprot/P01034" }, { "database": "PubMed", "id": "16635487", "url": "https://glygen.org/publication/PubMed/16635487" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "96.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101439", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101439" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "98.18", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101439", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101439" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "98.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101439", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101439" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "95.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101439", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101439" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "99.77", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101439", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101439" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "99.39", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101439", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101439" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "95.38", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101439", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101439" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "99.13", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101439", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101439" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "99.52", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101439", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101439" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "95.89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101439", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101439" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "98.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101439", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101439" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "99.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101439", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101439" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "99.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000101439", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101439" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P01034", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01034" } ], "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", 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"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, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P01034", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01034" } ], "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 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"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", 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P01034", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01034" } ], "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", 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"journal": "The Journal of endocrinology", "date": "2001", "authors": "Galanis M, Firth SM, Bond J, Nathanielsz A, Kortt AA, Hudson PJ, Baxter RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "11250653", "url": "https://glygen.org/publication/PubMed/11250653" } ] }, { "title": "Pregnancy-associated plasma protein-A2 (PAPP-A2), a novel insulin-like growth factor-binding protein-5 proteinase.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Overgaard MT, Boldt HB, Laursen LS, Sottrup-Jensen L, Conover CA, Oxvig C", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "11264294", "url": "https://glygen.org/publication/PubMed/11264294" } ] }, { "title": "Human cystatin C, an amyloidogenic protein, dimerizes through 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