{ "uniprot_canonical_ac": "P01040-1", "uniprot_ac": "P01040", "uniprot_id": "CYTA_HUMAN", "mass": { "chemical_mass": 11006.0, "monoisotopic_mass": 11006.0 }, "refseq": { "ac": "NP_005204", "name": "cystatin-A", "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 kininogens. This gene encodes a stefin that functions as a cysteine protease inhibitor, forming tight complexes with papain and the cathepsins B, H, and L. The protein is one of the precursor proteins of cornified cell envelope in keratinocytes and plays a role in epidermal development and maintenance. Stefins have been proposed as prognostic and diagnostic tools for cancer. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005204" }, "gene_names": [ { "name": "CSTA", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P01040", "id": "P01040" }, { "name": "AREI; PSS4; STF1; STFA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005204", "id": "NP_005204" }, { "name": "CSTA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005204", "id": "NP_005204" }, { "name": "STF1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P01040", "id": "P01040" }, { "name": "STFA", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P01040", "id": "P01040" } ], "protein_names": [ { "name": "Cystatin-A", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P01040" }, { "name": "Cystatin-AS", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01040" }, { "name": "Stefin-A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01040" }, { "name": "cystatin AS; cystatin A (stefin A)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005204", "id": "NP_005204" }, { "name": "cystatin-A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005204", "id": "NP_005204" } ], "function": [ { "annotation": "Correlated with better prognosis, CSTA inhibits metastasis of nasopharyngeal carcinoma cells via suppressing AKT signaling through promoting METTL3 degradation.", "evidence": [ { "database": "RefSeq", "id": "NP_005204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005204" }, { "database": "PubMed", "id": "36963524", "url": "https://glygen.org/publication/PubMed/36963524" } ] }, { "annotation": "Decreased CSTA expression promotes lymphatic metastasis and predicts poor survival in oral squamous cell carcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_005204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005204" }, { "database": "PubMed", "id": "33831734", "url": "https://glygen.org/publication/PubMed/33831734" } ] }, { "annotation": "In Silico, In Vitro, and Clinical Investigations of Cathepsin B and Stefin A mRNA Expression and a Correlation Analysis in Kidney Cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005204" }, { "database": "PubMed", "id": "35563761", "url": "https://glygen.org/publication/PubMed/35563761" } ] }, { "annotation": "Interplay of ERalpha binding and DNA methylation in the intron-2 determines the expression and estrogen regulation of cystatin A in breast cancer cells.", "evidence": [ { "database": "RefSeq", "id": "NP_005204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005204" }, { "database": "PubMed", "id": "31926189", "url": "https://glygen.org/publication/PubMed/31926189" } ] }, { "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 kininogens. This gene encodes a stefin that functions as a cysteine protease inhibitor, forming tight complexes with papain and the cathepsins B, H, and L. The protein is one of the precursor proteins of cornified cell envelope in keratinocytes and plays a role in epidermal development and maintenance. Stefins have been proposed as prognostic and diagnostic tools for cancer. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_005204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005204" } ] }, { "annotation": "This is an intracellular thiol proteinase inhibitor. Has an important role in desmosome-mediated cell-cell adhesion in the lower levels of the epidermis.", "evidence": [ { "database": "UniProtKB", "id": "P01040", "url": "https://www.uniprot.org/uniprot/P01040#function" }, { "database": "PubMed", "id": "21944047", "url": "https://glygen.org/publication/PubMed/21944047" } ] } ], "disease": [ { "disease_id": "MONDO:0011937", "recommended_name": { "id": "MONDO:0011937", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011937", "name": "peeling skin syndrome 4", "description": "Any peeling skin syndrome in which the cause of the disease is a mutation in the CSTA gene." }, "synonyms": [ { "id": "MONDO:0011937", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011937", "name": "CSTA peeling skin syndrome", "description": "" }, { "id": "MONDO:0011937", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011937", "name": "peeling skin syndrome 4", "description": "" }, { "id": "MONDO:0011937", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011937", "name": "peeling skin syndrome caused by mutation in CSTA", "description": "" }, { "id": "MONDO:0011937", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011937", "name": "peeling skin syndrome type 4", "description": "" }, { "id": "MONDO:0011937", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011937", "name": "PSS4", "description": "" }, { "id": "MONDO:0011937", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011937", "name": "ichthyosis bullosa of Siemens-like", "description": "" }, { "id": "MONDO:0011937", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011937", "name": "ichthyosis, exfoliative, autosomal recessive", "description": "" }, { "id": "MIM:607936", "resource": "MIM", "url": "https://www.omim.org/entry/607936", "name": "Peeling skin syndrome 4", "description": "Peeling skin syndrome 4" } ], "evidence": [ { "id": "607936", "database": "MIM", "url": "https://www.omim.org/entry/607936" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "64.34", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000121552", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121552" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "99.97", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000121552", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121552" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "80.59", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000121552", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121552" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000121552", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121552" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "83.89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000121552", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121552" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "76.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000121552", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121552" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000121552", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121552" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "87.73", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000121552", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121552" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "68.59", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000121552", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121552" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "70.84", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000121552", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121552" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "80.44", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000121552", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121552" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "86.2", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000121552", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121552" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "86.5", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000121552", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121552" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P01040", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01040" } ], "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 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"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, 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"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", 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"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 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"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": "P01040", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01040" } ], "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. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01040" } ], "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 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"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 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"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": "No", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P01040", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01040" } ], "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 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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": "P01040", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01040" } ], "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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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01040" } ], "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": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P01040", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01040" } ], "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": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01040" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P01040", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01040" } ], "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 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Binding to membranes directs residue specificity.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Nemes Z, Marekov LN, Steinert PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "10196183", "url": "https://glygen.org/publication/PubMed/10196183" } ] }, { "title": "Bricks and mortar of the epidermal barrier.", "journal": "Experimental & molecular medicine", "date": "1999", "authors": "Nemes Z, Steinert PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "10231017", "url": "https://glygen.org/publication/PubMed/10231017" } ] }, { "title": "A novel function for transglutaminase 1: attachment of long-chain omega-hydroxyceramides to involucrin by ester bond formation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Nemes Z, Marekov LN, Fesus L, Steinert PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "10411887", "url": "https://glygen.org/publication/PubMed/10411887" } ] }, { "title": "Initiation of assembly of the cell envelope barrier structure of stratified squamous epithelia.", "journal": "Molecular biology of the cell", "date": "1999", "authors": "Steinert PM, Marekov LN", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "10588656", "url": "https://glygen.org/publication/PubMed/10588656" } ] }, { "title": "SPRR1 gene induction and barrier formation occur as coordinated moving fronts in terminally differentiating epithelia.", "journal": "The Journal of investigative dermatology", "date": "2000", "authors": "Marshall D, Hardman MJ, Byrne C", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "10771479", "url": "https://glygen.org/publication/PubMed/10771479" } ] }, { "title": "Molecular cloning and characterization of a novel mouse epidermal differentiation gene and its promoter.", "journal": "Genomics", "date": "2001", "authors": "Wang A, Johnson DG, MacLeod MC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "11350120", "url": "https://glygen.org/publication/PubMed/11350120" } ] }, { "title": "Proprotein convertase expression and localization in epidermis: evidence for multiple roles and substrates.", "journal": "Experimental dermatology", "date": "2001", "authors": "Pearton DJ, Nirunsuksiri W, Rehemtulla A, Lewis SP, Presland RB, Dale BA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "11380615", "url": "https://glygen.org/publication/PubMed/11380615" } ] }, { "title": "Assembly of the epidermal cornified cell envelope.", "journal": "Journal of cell science", "date": "2001", "authors": "Kalinin A, Marekov LN, Steinert PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "11590230", "url": "https://glygen.org/publication/PubMed/11590230" } ] }, { "title": "Microsequences of 145 proteins recorded in the two-dimensional gel protein database of normal human epidermal keratinocytes.", "journal": "Electrophoresis", "date": "1992", "authors": "Rasmussen HH, van Damme J, Puype M, Gesser B, Celis JE, Vandekerckhove J", "evidence": [ { "database": "UniProtKB", "id": "P01040", "url": "https://www.uniprot.org/uniprot/P01040" } ], "reference": [ { "type": "PubMed", "id": "1286667", "url": "https://glygen.org/publication/PubMed/1286667" } ] }, { "title": "Fusion of lamellar body with plasma membrane is driven by the dual action of annexin II tetramer and arachidonic acid.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Chattopadhyay S, Sun P, Wang P, Abonyo B, Cross NL, Liu L", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "12902340", "url": "https://glygen.org/publication/PubMed/12902340" } ] }, { "title": "Co-assembly of envoplakin and periplakin into oligomers and Ca(2+)-dependent vesicle binding: implications for cornified cell envelope formation in stratified squamous epithelia.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Kalinin AE, Idler WW, Marekov LN, McPhie P, Bowers B, Steinert PM, Steven AC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "15033990", "url": "https://glygen.org/publication/PubMed/15033990" } ] }, { "title": "Kazrin, a novel periplakin-interacting protein associated with desmosomes and the keratinocyte plasma membrane.", "journal": "The Journal of cell biology", "date": "2004", "authors": "Groot KR, Sevilla LM, Nishi K, DiColandrea T, Watt FM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "15337775", "url": "https://glygen.org/publication/PubMed/15337775" } ] }, { "title": "Perp is a p63-regulated gene essential for epithelial integrity.", "journal": "Cell", "date": "2005", "authors": "Ihrie RA, Marques MR, Nguyen BT, Horner JS, Papazoglu C, Bronson RT, Mills AA, Attardi LD", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "15797384", "url": "https://glygen.org/publication/PubMed/15797384" } ] }, { "title": "The cornified envelope: a model of cell death in the skin.", "journal": "Nature reviews. Molecular cell biology", "date": "2005", "authors": "Candi E, Schmidt R, Melino G", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "15803139", "url": "https://glygen.org/publication/PubMed/15803139" } ] }, { "title": "The epidermal barrier function is dependent on the serine protease CAP1/Prss8.", "journal": "The Journal of cell biology", "date": "2005", "authors": "Leyvraz C, Charles RP, Rubera I, Guitard M, Rotman S, Breiden B, Sandhoff K, Hummler E", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "16061697", "url": "https://glygen.org/publication/PubMed/16061697" } ] }, { "title": "Expression and regulation of cornified envelope proteins in human corneal epithelium.", "journal": "Investigative ophthalmology & visual science", "date": "2006", "authors": "Tong L, Corrales RM, Chen Z, Villarreal AL, De Paiva CS, Beuerman R, Li DQ, Pflugfelder SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "16639001", "url": "https://glygen.org/publication/PubMed/16639001" } ] }, { "title": "Caspase-14 protects against epidermal UVB photodamage and water loss.", "journal": "Nature cell biology", "date": "2007", "authors": "Denecker G, Hoste E, Gilbert B, Hochepied T, Ovaere P, Lippens S, Van den Broecke C, Van Damme P, D'Herde K, Hachem JP, Borgonie G, Presland RB, Schoonjans L, Libert C, Vandekerckhove J, Gevaert K, Vandenabeele P, Declercq W", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "17515931", "url": "https://glygen.org/publication/PubMed/17515931" } ] }, { "title": "Large-scale identification of human genes implicated in epidermal barrier function.", "journal": "Genome biology", "date": "2007", "authors": "Toulza E, Mattiuzzo NR, Galliano MF, Jonca N, Dossat C, Jacob D, de Daruvar A, Wincker P, Serre G, Guerrin M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "17562024", "url": "https://glygen.org/publication/PubMed/17562024" } ] }, { "title": "LEKTI fragments specifically inhibit KLK5, KLK7, and KLK14 and control desquamation through a pH-dependent interaction.", "journal": "Molecular biology of the cell", "date": "2007", "authors": "Deraison C, Bonnart C, Lopez F, Besson C, Robinson R, Jayakumar A, Wagberg F, Brattsand M, Hachem JP, Leonardsson G, Hovnanian A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "17596512", "url": "https://glygen.org/publication/PubMed/17596512" } ] }, { "title": "Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing.", "journal": "The Journal of investigative dermatology", "date": "2009", "authors": "Alef T, Torres S, Hausser I, Metze D, Tursen U, Lestringant GG, Hennies HC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "18843291", "url": "https://glygen.org/publication/PubMed/18843291" } ] }, { "title": "Identification of lympho-epithelial Kazal-type inhibitor 2 in human skin as a kallikrein-related peptidase 5-specific protease inhibitor.", "journal": "PloS one", "date": "2009", "authors": "Meyer-Hoffert U, Wu Z, Schroder JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "19190773", "url": "https://glygen.org/publication/PubMed/19190773" } ] }, { "title": "SPINK9: a selective, skin-specific Kazal-type serine protease inhibitor.", "journal": "The Journal of investigative dermatology", "date": "2009", "authors": "Brattsand M, Stefansson K, Hubiche T, Nilsson SK, Egelrud T", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "19194479", "url": "https://glygen.org/publication/PubMed/19194479" } ] }, { "title": "Molecular cloning, occurrence, and expression of a novel partially secreted protein 'psoriasin' that is highly up-regulated in psoriatic skin.", "journal": "J. Invest. Dermatol.", "date": "1991", "authors": "Vandekerckhove J., Andersen A.H., Celis J.E., Honore B., Leffers H., Madsen P., Rasmussen H.H., Walbum E., Celis A., Basse B., Dejgaard K., Kiil J., Lauridsen J.B., Olsen E., Ratz G.P.", "evidence": [ { "database": "UniProtKB", "id": "P01040", "url": "https://www.uniprot.org/uniprot/P01040" } ], "reference": [ { "type": "PubMed", "id": "1940442", "url": "https://glygen.org/publication/PubMed/1940442" } ] }, { "title": "Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing.", "journal": "The Journal of clinical investigation", "date": "2010", "authors": "Bonnart C, Deraison C, Lacroix M, Uchida Y, Besson C, Robin A, Briot A, Gonthier M, Lamant L, Dubus P, Monsarrat B, Hovnanian A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "20179351", "url": "https://glygen.org/publication/PubMed/20179351" } ] }, { "title": "Matriptase initiates activation of epidermal pro-kallikrein and disease onset in a mouse model of Netherton syndrome.", "journal": "Nature genetics", "date": "2010", "authors": "Sales KU, Masedunskas A, Bey AL, Rasmussen AL, Weigert R, List K, Szabo R, Overbeek PA, Bugge TH", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "20657595", "url": "https://glygen.org/publication/PubMed/20657595" } ] }, { "title": "Isolation of SPINK6 in human skin: selective inhibitor of kallikrein-related peptidases.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Meyer-Hoffert U, Wu Z, Kantyka T, Fischer J, Latendorf T, Hansmann B, Bartels J, He Y, Glaser R, Schroder JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "20667819", "url": "https://glygen.org/publication/PubMed/20667819" } ] }, { "title": "Kallikrein-related peptidase-8 (KLK8) is an active serine protease in human epidermis and sweat and is involved in a skin barrier proteolytic cascade.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Eissa A, Amodeo V, Smith CR, Diamandis EP", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "20940292", "url": "https://glygen.org/publication/PubMed/20940292" } ] }, { "title": "Inhibition of kallikrein-related peptidases by the serine protease inhibitor of Kazal-type 6.", "journal": "Peptides", "date": "2011", "authors": "Kantyka T, Fischer J, Wu Z, Declercq W, Reiss K, Schroder JM, Meyer-Hoffert U", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "21439340", "url": "https://glygen.org/publication/PubMed/21439340" } ] }, { "title": "Caspase-14 is required for filaggrin degradation to natural moisturizing factors in the skin.", "journal": "The Journal of investigative dermatology", "date": "2011", "authors": "Hoste E, Kemperman P, Devos M, Denecker G, Kezic S, Yau N, Gilbert B, Lippens S, De Groote P, Roelandt R, Van Damme P, Gevaert K, Presland RB, Takahara H, Puppels G, Caspers P, Vandenabeele P, Declercq W", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "21654840", "url": "https://glygen.org/publication/PubMed/21654840" } ] }, { "title": "Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion.", "journal": "Am. J. Hum. Genet.", "date": "2011", "authors": "Fischer J., Kelsell D.P., Eckl K.M., Hennies H.C., Blaydon D.C., Cabral R.M., van Heel D.A., Hausser I., Oji V., Traupe H., Zvulunov A., Bland P., Nitoiu D., Rajpopat S.", "evidence": [ { "database": "UniProtKB", "id": "P01040", "url": "https://www.uniprot.org/uniprot/P01040" } ], "reference": [ { "type": "PubMed", "id": "21944047", "url": "https://glygen.org/publication/PubMed/21944047" } ] }, { "title": "Cuts by caspase-14 control the proteolysis of filaggrin.", "journal": "The Journal of investigative dermatology", "date": "2011", "authors": "Eckhart L, Tschachler E", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "21997417", "url": "https://glygen.org/publication/PubMed/21997417" } ] }, { "title": "Kallikrein-related peptidase 5 functions in proteolytic processing of profilaggrin in cultured human keratinocytes.", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Sakabe J, Yamamoto M, Hirakawa S, Motoyama A, Ohta I, Tatsuno K, Ito T, Kabashima K, Hibino T, Tokura Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "23629652", "url": "https://glygen.org/publication/PubMed/23629652" } ] }, { "title": "Effects of UV, 4-NQO and TPA on gene expression in cultured human epidermal keratinocytes.", "journal": "Nucleic Acids Res.", "date": "1987", "authors": "Kartasova T, Cornelissen BJ, Belt P, van de Putte P", "evidence": [ { "database": "UniProtKB", "id": "P01040", "url": "https://www.uniprot.org/uniprot/P01040" } ], "reference": [ { "type": "PubMed", "id": "2442723", "url": "https://glygen.org/publication/PubMed/2442723" } ] }, { "title": "Kallikrein-8 Proteolytically Processes Human Papillomaviruses in the Extracellular Space To Facilitate Entry into Host Cells.", "journal": "Journal of virology", "date": "2015", "authors": "Cerqueira C, Samperio Ventayol P, Vogeley C, Schelhaas M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "25926655", "url": "https://glygen.org/publication/PubMed/25926655" } ] }, { "title": "Proteomic analysis of O-GlcNAcylated proteins in invasive ductal breast carcinomas with and without lymph node metastasis.", "journal": "Amino acids", "date": "2016", "authors": "Jiang K, Gao Y, Hou W, Tian F, Ying W, Li L, Bai B, Hou G, Wang PG, Zhang L", "evidence": [ { "database": "O-GlcNAc Database", "id": "P01040", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P01040" } ], "reference": [ { "type": "PubMed", "id": "26374642", "url": "https://glygen.org/publication/PubMed/26374642" } ] }, { "title": "KLK5 Inactivation Reverses Cutaneous Hallmarks of Netherton Syndrome.", "journal": "PLoS genetics", "date": "2015", "authors": "Furio L, Pampalakis G, Michael IP, Nagy A, Sotiropoulou G, Hovnanian A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "26390218", "url": "https://glygen.org/publication/PubMed/26390218" } ] }, { "title": "Comparative studies on the primary structure of human cystatin as from epidermis, liver, spleen, and leukocytes.", "journal": "J. Biochem.", "date": "1989", "authors": "Takeda A., Kaji H., Nakaya K., Nakmura Y., Samejima T.", "evidence": [ { "database": "UniProtKB", "id": "P01040", "url": "https://www.uniprot.org/uniprot/P01040" } ], "reference": [ { "type": "PubMed", "id": "2768224", "url": "https://glygen.org/publication/PubMed/2768224" } ] }, { "title": "Combinatorial regulation of hepatic cytoplasmic signaling and nuclear transcriptional events by the OGT/REV-ERBalpha complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2018", "authors": "Berthier A, Vinod M, Porez G, Steenackers A, Alexandre J, Yamakawa N, Gheeraert C, Ploton M, Marechal X, Dubois-Chevalier J, Hovasse A, Schaeffer-Reiss C, Cianferani S, Rolando C, Bray F, Duez H, Eeckhoute J, Lefebvre T, Staels B, Lefebvre P", "evidence": [ { "database": "O-GlcNAc Database", "id": "P01040", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P01040" } ], "reference": [ { "type": "PubMed", "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120" } ] }, { "title": "Interplay of ERalpha binding and DNA methylation in the intron-2 determines the expression and estrogen regulation of cystatin A in breast cancer cells.", "journal": "Molecular and cellular endocrinology", "date": "2020", "authors": "John Mary DJS, Sikarwar G, Kumar A, Limaye AM", "evidence": [ { "database": "RefSeq", "id": "NP_005204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005204" } ], "reference": [ { "type": "PubMed", "id": "31926189", "url": "https://glygen.org/publication/PubMed/31926189" } ] }, { "title": "Decreased CSTA expression promotes lymphatic metastasis and predicts poor survival in oral squamous cell carcinoma.", "journal": "Archives of oral biology", "date": "2021", "authors": "Wang Y, Wang L, Li X, Qu X, Han N, Ruan M, Zhang C", "evidence": [ { "database": "RefSeq", "id": "NP_005204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005204" } ], "reference": [ { "type": "PubMed", "id": "33831734", "url": "https://glygen.org/publication/PubMed/33831734" } ] }, { "title": "In Silico, In Vitro, and Clinical Investigations of Cathepsin B and Stefin A mRNA Expression and a Correlation Analysis in Kidney Cancer.", "journal": "Cells", "date": "2022", "authors": "Rudzinska-Radecka M, Frolova AS, Balakireva AV, Gorokhovets NV, Pokrovsky VS, Sokolova DV, Korolev DO, Potoldykova NV, Vinarov AZ, Parodi A, Zamyatnin AA Jr", "evidence": [ { "database": "RefSeq", "id": "NP_005204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005204" } ], "reference": [ { "type": "PubMed", "id": "35563761", "url": "https://glygen.org/publication/PubMed/35563761" } ] }, { "title": "Correlated with better prognosis, CSTA inhibits metastasis of nasopharyngeal carcinoma cells via suppressing AKT signaling through promoting METTL3 degradation.", "journal": "Biochimica et biophysica acta. Molecular basis of disease", "date": "2023-03-22", "authors": "Liu Zhi-Jie, Zheng Li-Sheng, Li Chang-Zhi, Peng Li-Xia, Mei Yan, Lang Yan-Hong, Xu Liang, Meng Dong-Fang, Peng Xing-Si, Wang Ming-Dian, Xie De-Huan, Guo Ling-Ling, Ding Liu-Yan, Huang Bi-Jun, Qian Chao-Nan", "evidence": [ { "database": "RefSeq", "id": "NP_005204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005204" } ], "reference": [ { "type": "PubMed", "id": "36963524", "url": "https://glygen.org/publication/PubMed/36963524" } ] }, { "title": "Protein inhibitors of cysteine proteinases. II. Primary structure of stefin, a cytosolic protein inhibitor of cysteine proteinases from human polymorphonuclear granulocytes.", "journal": "Hoppe-Seyler's Z. Physiol. Chem.", "date": "1983", "authors": "Brzin J., Machleidt W., Ritonja A., Turk V., Borchart U., Fritz H.", "evidence": [ { "database": "UniProtKB", "id": "P01040", "url": "https://www.uniprot.org/uniprot/P01040" } ], "reference": [ { "type": "PubMed", "id": "6689312", "url": "https://glygen.org/publication/PubMed/6689312" } ] }, { "title": "The proteins elafin, filaggrin, keratin intermediate filaments, loricrin, and small proline-rich proteins 1 and 2 are isodipeptide cross-linked components of the human epidermal cornified cell envelope.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Steinert PM, Marekov LN", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "7543090", "url": "https://glygen.org/publication/PubMed/7543090" } ] }, { "title": "Solution structure of a human cystatin A variant, cystatin A2-98 M65L, by NMR spectroscopy. 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