{ "uniprot_canonical_ac": "O95678-1", "uniprot_ac": "O95678", "uniprot_id": "K2C75_HUMAN", "mass": { "chemical_mass": 59560.0, "monoisotopic_mass": 59560.0 }, "refseq": { "ac": "NP_004684", "name": "keratin, type II cytoskeletal 75", "summary": "This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. This gene is expressed in the companion layer, upper germinative matrix region of the hair follicle, and medulla of the hair shaft. The encoded protein plays an essential role in hair and nail formation. Variations in this gene have been associated with the hair disorders pseudofolliculitis barbae (PFB) and loose anagen hair syndrome (LAHS). [provided by RefSeq, Oct 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004684" }, "gene_names": [ { "name": "KRT75", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95678", "id": "O95678" }, { "name": "CK-75; hK6hf; K6HF; K75; KB18; PFB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004684", "id": "NP_004684" }, { "name": "K6HF", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95678", "id": "O95678" }, { "name": "KB18", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95678", "id": "O95678" }, { "name": "KRT75", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004684", "id": "NP_004684" } ], "protein_names": [ { "name": "Keratin, type II cytoskeletal 75", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95678" }, { "name": "CK-75", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95678" }, { "name": "Cytokeratin-75", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95678" }, { "name": "K75", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95678" }, { "name": "Keratin-6 hair follicle", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95678" }, { "name": "Keratin-75", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95678" }, { "name": "Type II keratin-K6hf", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95678" }, { "name": "Type-II keratin Kb18", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95678" }, { "name": "cytokeratin type II; cytokeratin-75; type II keratin-18; keratin-6 hair follicle; type II keratin-K6hf; type-II keratin Kb18; keratin 75, type II", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004684", "id": "NP_004684" }, { "name": "hK6hf", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95678" }, { "name": "keratin, type II cytoskeletal 75", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004684", "id": "NP_004684" } ], "function": [ { "annotation": "Analysis of teeth from individuals carrying the KRT75(A161T) variant revealed an altered enamel structure and a marked reduction of enamel hardness, suggesting that a functional keratin network is required for the mechanical stability of tooth enamel.", "evidence": [ { "database": "RefSeq", "id": "NP_004684", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004684" }, { "database": "PubMed", "id": "25347471", "url": "https://glygen.org/publication/PubMed/25347471" } ] }, { "annotation": "CK5/6 have roles in biologically aggressive tumors likely to display resistance to trastuzumab ab initio in women diagnosed with HER2+ cancer", "evidence": [ { "database": "RefSeq", "id": "NP_004684", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004684" }, { "database": "PubMed", "id": "25742793", "url": "https://glygen.org/publication/PubMed/25742793" } ] }, { "annotation": "Plays a central role in hair and nail formation. Essential component of keratin intermediate filaments in the companion layer of the hair follicle.", "evidence": [ { "database": "UniProtKB", "id": "O95678", "url": "https://www.uniprot.org/uniprot/O95678#function" } ] }, { "annotation": "Studies show that mutation in epithelial hair keratin KRT75 leads to a skin condition called pseudofollicularis barbae. Carriers of this mutation have an altered enamel structure and mechanical properties leading to much higher prevalence of caries. [review] Review article", "evidence": [ { "database": "RefSeq", "id": "NP_004684", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004684" }, { "database": "PubMed", "id": "26709044", "url": "https://glygen.org/publication/PubMed/26709044" } ] }, { "annotation": "The expression of CK5/6 and of P63 suggests a squamous differentiation including in the basaloid thyroid lymphoepithelial complexes", "evidence": [ { "database": "RefSeq", "id": "NP_004684", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004684" }, { "database": "PubMed", "id": "27130144", "url": "https://glygen.org/publication/PubMed/27130144" } ] }, { "annotation": "This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. This gene is expressed in the companion layer, upper germinative matrix region of the hair follicle, and medulla of the hair shaft. The encoded protein plays an essential role in hair and nail formation. Variations in this gene have been associated with the hair disorders pseudofolliculitis barbae (PFB) and loose anagen hair syndrome (LAHS). [provided by RefSeq, Oct 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_004684", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004684" } ] } ], "disease": [ { "disease_id": "DOID:0111702", "recommended_name": { "id": "DOID:0111702", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111702", "name": "loose anagen hair syndrome", "description": "An alopecia characterized by anagen phase (actively growing) hair that is easily pulled from the scalp typically presenting in childhood in fair haired individuals and improving with age." }, "synonyms": [ { "id": "DOID:0111702", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111702", "name": "loose anagen syndrome", "description": "" }, { "id": "MONDO:0010908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010908", "name": "loose anagen syndrome", "description": "Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma." }, { "id": "MONDO:0010908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010908", "name": "loose anagen hair syndrome", "description": "" }, { "id": "MIM:600628", "resource": "MIM", "url": "https://www.omim.org/entry/600628", "name": "Loose anagen hair syndrome", "description": "Loose anagen hair syndrome" } ], "evidence": [ { "id": "600628", "database": "MIM", "url": "https://www.omim.org/entry/600628" } ] }, { "disease_id": "MONDO:0012865", "recommended_name": { "id": "MONDO:0012865", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012865", "name": "Pseudofolliculitis barbae", "description": "" }, "synonyms": [ { "id": "MONDO:0012865", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012865", "name": "Pseudofolliculitis barbae", "description": "" }, { "id": "MONDO:0012865", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012865", "name": "PFB", "description": "" }, { "id": "MONDO:0012865", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012865", "name": "ingrown hairs", "description": "" }, { "id": "MONDO:0012865", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012865", "name": "pili Incarnati", "description": "" }, { "id": "MONDO:0012865", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012865", "name": "pseudofolliculitis barbae, susceptibility to", "description": "" } ], "evidence": [ { "id": "612318", "database": "MIM", "url": "https://www.omim.org/entry/612318" } ] } ], "snv": [ { "evidence": [ { "id": "O95678", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95678" } ], "glycoeffect": [], "start_pos": 150, "end_pos": 150, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "52433856", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R150", "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": "" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "39.74", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000170454", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170454" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000170454", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170454" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "27.66", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000170454", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170454" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "61.14", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000170454", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170454" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "44.07", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000170454", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170454" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "23.47", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000170454", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170454" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000170454", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170454" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "34.59", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000170454", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170454" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "33.99", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000170454", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170454" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000170454", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170454" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "26.22", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000170454", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170454" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "33.46", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000170454", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170454" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "28.41", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000170454", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170454" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95678", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95678" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95678", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95678" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O95678", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95678" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O95678", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95678" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O95678", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95678" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O95678", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95678" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95678", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95678" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O95678", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95678" } ], "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": "O95678", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95678" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O95678", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95678" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O95678", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95678" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O95678", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95678" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95678", "url": "https://www.uniprot.org/uniprot/O95678" } ], "common_name": "Human" } ], "gene": [ { "name": "KRT75", "url": "https://www.uniprot.org/uniprot/O95678", "locus": { "chromosome": "12", "start_pos": 52424070, "end_pos": 52434371, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000170454", "url": "https://www.ensembl.org/id/ENSG00000170454" } ] } } ], "crossref": [ { "id": "ENSG00000170454", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170454", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O95678", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95678", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "KRT75", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=KRT75", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "9119", "url": "https://www.ncbi.nlm.nih.gov/gene/9119", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "24431", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=24431", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O95678", "url": "https://www.ebi.ac.uk/intact/interactors/id:O95678*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR003054", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003054", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018039", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018039", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR032444", "url": "https://www.ebi.ac.uk/interpro/entry/IPR032444", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR039008", "url": "https://www.ebi.ac.uk/interpro/entry/IPR039008", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:9119", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9119", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "600628", "url": "http://www.omim.org/entry/600628", "database": "MIM", "categories": [ "Other" ] }, { "id": "609025", "url": "http://www.omim.org/entry/609025", "database": "MIM", "categories": [ "Other" ] }, { "id": "612318", "url": "http://www.omim.org/entry/612318", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O95678", "url": "https://www.nextprot.org/entry/NX_O95678", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O95678", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95678", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "SIKKQCS", "url": "https://omabrowser.org/oma/group/SIKKQCS/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "4640531at2759", "url": "http://www.orthodb.org/?query=4640531at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR45616", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45616", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45616:SF13", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45616:SF13", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00038", "url": "http://pfam.xfam.org/family/PF00038", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF16208", "url": "http://pfam.xfam.org/family/PF16208", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O95678", "url": "https://pharos.nih.gov/targets/O95678", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O95678", "url": "http://purl.obolibrary.org/obo/PR_O95678", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-6805567", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6805567", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_004684", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004684", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O95678", "url": "https://www.uniprot.org/uniprot/O95678", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95678-1", "url": "https://www.uniprot.org/uniprot/O95678-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSRQSSITFQSGSRRGFSTTSAITPAAGRSRFSSVSVARSAAGSGGLGRISSAGASFGSRSLYNLGGAKRVSINGCGSSCRSGFGGRASNRFGVNSGFGYGGGVGGGFSGPSFPVCPPGGIQEVTVNQSLLTPLHLQIDPTIQRVRAEEREQIKTLNNKFASFIDKVRFLEQQNKVLETKWALLQEQGSRTVRQNLEPLFDSYTSELRRQLESITTERGRLEAELRNMQDVVEDFKVRYEDEINKRTAAENEFVALKKDVDAAYMNKVELEAKVKSLPEEINFIHSVFDAELSQLQTQVGDTSVVLSMDNNRNLDLDSIIAEVKAQYEDIANRSRAEAESWYQTKYEELQVTAGRHGDDLRNTKQEISEMNRMIQRLRAEIDSVKKQCSSLQTAIADAEQRGELALKDARAKLVDLEEALQKAKQDMARLLREYQELMNIKLALDVEIATYRKLLEGEECRLSGEGVSPVNISVVTSTLSSGYGSGSSIGGGNLGLGGGSGYSFTTSGGHSLGAGLGGSGFSATSNRGLGGSGSSVKFVSTTSSSQKSYTH", "length": 551, "header": "sp|O95678-1|K2C75_HUMAN Isoform 1 of Keratin, type II cytoskeletal 75 OS=Homo sapiens OX=9606 GN=KRT75 PE=1 SV=2 CANONICAL=O95678-1" }, "isoforms": [ { "isoform_ac": "O95678-1", "url": "", "sequence": { "sequence": "MSRQSSITFQSGSRRGFSTTSAITPAAGRSRFSSVSVARSAAGSGGLGRISSAGASFGSRSLYNLGGAKRVSINGCGSSCRSGFGGRASNRFGVNSGFGYGGGVGGGFSGPSFPVCPPGGIQEVTVNQSLLTPLHLQIDPTIQRVRAEEREQIKTLNNKFASFIDKVRFLEQQNKVLETKWALLQEQGSRTVRQNLEPLFDSYTSELRRQLESITTERGRLEAELRNMQDVVEDFKVRYEDEINKRTAAENEFVALKKDVDAAYMNKVELEAKVKSLPEEINFIHSVFDAELSQLQTQVGDTSVVLSMDNNRNLDLDSIIAEVKAQYEDIANRSRAEAESWYQTKYEELQVTAGRHGDDLRNTKQEISEMNRMIQRLRAEIDSVKKQCSSLQTAIADAEQRGELALKDARAKLVDLEEALQKAKQDMARLLREYQELMNIKLALDVEIATYRKLLEGEECRLSGEGVSPVNISVVTSTLSSGYGSGSSIGGGNLGLGGGSGYSFTTSGGHSLGAGLGGSGFSATSNRGLGGSGSSVKFVSTTSSSQKSYTH", "length": 551, "header": "sp|O95678-1|K2C75_HUMAN Isoform 1 of Keratin, type II cytoskeletal 75 OS=Homo sapiens OX=9606 GN=KRT75 PE=1 SV=2 CANONICAL=O95678-1" }, "locus": { "chromosome": "12", "start_pos": 52434304, "end_pos": 52424520, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000252245.6", "url": "https://www.ensembl.org/id/ENST00000252245.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000252245.5", "url": "https://www.ensembl.org/id/ENSP00000252245.5" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O95678", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95678" }, { "id": "26853435", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26853435" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "22121020", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22121020" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 162, "end_pos": 162, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95678", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95678" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser162" }, { "start_pos": 334, "end_pos": 334, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95678", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95678" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ], "site_lbl": "Ser334" }, { "start_pos": 383, "end_pos": 383, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95678", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95678" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser383" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Transglutaminase cross-linking properties of the small proline-rich 1 family of cornified cell envelope proteins. Integration with loricrin.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Candi E, Tarcsa E, Idler WW, Kartasova T, Marekov LN, Steinert PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "10066784", "url": "https://glygen.org/publication/PubMed/10066784" } ] }, { "title": "Involucrin cross-linking by transglutaminase 1. 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": "Characterization of a 300 kbp region of human DNA containing the type II hair keratin.", "journal": "J. Invest. Dermatol.", "date": "2000", "authors": "Rogers M A, Winter H, Langbein L, Wolf C, Schweizer J", "evidence": [ { "database": "UniProtKB", "id": "O95678", "url": "https://www.uniprot.org/uniprot/O95678" } ], "reference": [ { "type": "PubMed", "id": "10692104", "url": "https://glygen.org/publication/PubMed/10692104" } ] }, { "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": "Is the loose anagen hair syndrome a keratin disorder? A clinical and molecular study.", "journal": "Archives of dermatology", "date": "2002", "authors": "Chapalain V, Winter H, Langbein L, Le Roy JM, Labreze C, Nikolic M, Schweizer J, Taieb A", "evidence": [ { "database": "UniProtKB", "id": "O95678", "url": "https://www.uniprot.org/uniprot/O95678" } ], "reference": [ { "type": "PubMed", "id": "11939812", "url": "https://glygen.org/publication/PubMed/11939812" } ] }, { "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": "Type II epithelial keratin 6hf (K6hf) is expressed in the companion layer, matrix, and medulla in anagen-stage hair follicles.", "journal": "J. Invest. Dermatol.", "date": "2003", "authors": "Wang Zhiling, Wong Pauline, Langbein Lutz, Schweizer J\u00fcrgen, Coulombe Pierre A", "evidence": [ { "database": "UniProtKB", "id": "O95678", "url": "https://www.uniprot.org/uniprot/O95678" } ], "reference": [ { "type": "PubMed", "id": "14675170", "url": "https://glygen.org/publication/PubMed/14675170" } ] }, { "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": "An unusual Ala12Thr polymorphism in the 1A alpha-helical segment of the companion layer-specific keratin K6hf: evidence for a risk factor in the etiology of the common hair disorder pseudofolliculitis barbae.", "journal": "The Journal of investigative dermatology", "date": "2004", "authors": "Winter H, Schissel D, Parry DA, Smith TA, Liovic M, Birgitte Lane E, Edler L, Langbein L, Jave-Suarez LF, Rogers MA, Wilde J, Peters G, Schweizer J", "evidence": [ { "database": "UniProtKB", "id": "O95678", "url": "https://www.uniprot.org/uniprot/O95678" } ], "reference": [ { "type": "PubMed", "id": "15086549", "url": "https://glygen.org/publication/PubMed/15086549" } ] }, { "title": "Dermal papilla-induced hair differentiation of adult epithelial stem cells from human skin.", "journal": "Physiol. Genomics", "date": "2004", "authors": "Roh C, Tao Q, Lyle S", "evidence": [ { "database": "UniProtKB", "id": "O95678", "url": "https://www.uniprot.org/uniprot/O95678" } ], "reference": [ { "type": "PubMed", "id": "15292489", "url": "https://glygen.org/publication/PubMed/15292489" } ] }, { "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": "Stratum corneum keratin structure, function, and formation: the cubic rod-packing and membrane templating model.", "journal": "The Journal of investigative dermatology", "date": "2004", "authors": "Norlen L, Al-Amoudi A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6805567", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6805567" } ], "reference": [ { "type": "PubMed", "id": "15373777", "url": "https://glygen.org/publication/PubMed/15373777" } ] }, { "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": "Human hair keratin-associated proteins.", "journal": "The journal of investigative dermatology. Symposium proceedings", "date": "2005", "authors": "Shimomura Y, Ito M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6805567", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6805567" } ], "reference": [ { "type": "PubMed", "id": "16382671", "url": "https://glygen.org/publication/PubMed/16382671" } ] }, { "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": "Differential extraction of keratin subunits and filaments from normal human epidermis.", "journal": "The Journal of cell biology", "date": "1990", "authors": "Eichner R, Kahn M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6805567", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6805567" } ], "reference": [ { "type": "PubMed", "id": "1691188", "url": "https://glygen.org/publication/PubMed/1691188" } ] }, { "title": "Elucidating the early stages of keratin filament assembly.", "journal": "The Journal of cell biology", "date": "1990", "authors": "Coulombe PA, Fuchs E", "evidence": [ { "database": "Reactome", "id": "R-HSA-6805567", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6805567" } ], "reference": [ { "type": "PubMed", "id": "1694855", "url": "https://glygen.org/publication/PubMed/1694855" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O95678", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95678" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Structure and biochemistry of mammalian hard keratin.", "journal": "Electron microscopy reviews", "date": "1991", "authors": "Marshall RC, Orwin DF, Gillespie JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6805567", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6805567" } ], "reference": [ { "type": "PubMed", "id": "1714783", "url": "https://glygen.org/publication/PubMed/1714783" } ] }, { "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": "Towards a molecular description of intermediate filament structure and assembly.", "journal": "Experimental cell research", "date": "2007", "authors": "Parry DA, Strelkov SV, Burkhard P, Aebi U, Herrmann H", "evidence": [ { "database": "Reactome", "id": "R-HSA-6805567", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6805567" } ], "reference": [ { "type": "PubMed", "id": "17521629", "url": "https://glygen.org/publication/PubMed/17521629" } ] }, { "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": "Expression of follicular sheath keratins in the normal nail with special reference to the morphological analysis of the distal nail unit.", "journal": "Am. J. Dermatopathol.", "date": "2007", "authors": "Perrin Christophe", "evidence": [ { "database": "UniProtKB", "id": "O95678", "url": "https://www.uniprot.org/uniprot/O95678" } ], "reference": [ { "type": "PubMed", "id": "18032949", "url": "https://glygen.org/publication/PubMed/18032949" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O95678", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95678" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Successive and selective release of phosphorylated peptides captured by hydroxy acid-modified metal oxide chromatography.", "journal": "Journal of proteome research", "date": "2008", "authors": "Kyono Y, Sugiyama N, Imami K, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "O95678", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95678" } ], "reference": [ { "type": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ] }, { "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": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O95678", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95678" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "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": "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": "GlcNAcylation of histone H2B facilitates its monoubiquitination.", "journal": "Nature", "date": "2011", "authors": "Fujiki R, Hashiba W, Sekine H, Yokoyama A, Chikanishi T, Ito S, Imai Y, Kim J, He HH, Igarashi K, Kanno J, Ohtake F, Kitagawa H, Roeder RG, Brown M, Kato S", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95678", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95678" } ], "reference": [ { "type": "PubMed", "id": "22121020", "url": "https://glygen.org/publication/PubMed/22121020" } ] }, { "title": "Structure, function, and regulation of desmosomes.", "journal": "Progress in molecular biology and translational science", "date": "2013", "authors": "Kowalczyk AP, Green KJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6805567", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6805567" } ], "reference": [ { "type": "PubMed", "id": "23481192", "url": "https://glygen.org/publication/PubMed/23481192" } ] }, { "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": "Pair formation and promiscuity of cytokeratins: formation in vitro of heterotypic complexes and intermediate-sized filaments by homologous and heterologous recombinations of purified polypeptides.", "journal": "The Journal of cell biology", "date": "1985", "authors": "Hatzfeld M, Franke WW", "evidence": [ { "database": "Reactome", "id": "R-HSA-6805567", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6805567" } ], "reference": [ { "type": "PubMed", "id": "2414304", "url": "https://glygen.org/publication/PubMed/2414304" } ] }, { "title": "Mammalian keratin associated proteins (KRTAPs) subgenomes: disentangling hair diversity and adaptation to terrestrial and aquatic environments.", "journal": "BMC genomics", "date": "2014", "authors": "Khan I, Maldonado E, Vasconcelos V, O'Brien SJ, Johnson WE, Antunes A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6805567", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6805567" } ], "reference": [ { "type": "PubMed", "id": "25208914", "url": "https://glygen.org/publication/PubMed/25208914" } ] }, { "title": "Hair keratin mutations in tooth enamel increase dental decay risk.", "journal": "The Journal of clinical investigation", "date": "2014", "authors": "Duverger O, Ohara T, Shaffer JR, Donahue D, Zerfas P, Dullnig A, Crecelius C, Beniash E, Marazita ML, Morasso MI", "evidence": [ { "database": "RefSeq", "id": "NP_004684", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004684" } ], "reference": [ { "type": "PubMed", "id": "25347471", "url": "https://glygen.org/publication/PubMed/25347471" } ] }, { "title": "Cytokeratin 5/6 fingerprinting in HER2-positive tumors identifies a poor prognosis and trastuzumab-resistant basal-HER2 subtype of breast cancer.", "journal": "Oncotarget", "date": "2015", "authors": "Martin-Castillo B, Lopez-Bonet E, Buxo M, Dorca J, Tuca-Rodriguez F, Ruano MA, Colomer R, Menendez JA", "evidence": [ { "database": "RefSeq", "id": "NP_004684", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004684" } ], "reference": [ { "type": "PubMed", "id": "25742793", "url": "https://glygen.org/publication/PubMed/25742793" } ] }, { "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": "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": "Keratins as components of the enamel organic matrix.", "journal": "Matrix biology : journal of the International Society for Matrix Biology", "date": "2016", "authors": "Duverger O, Beniash E, Morasso MI", "evidence": [ { "database": "RefSeq", "id": "NP_004684", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004684" } ], "reference": [ { "type": "PubMed", "id": "26709044", "url": "https://glygen.org/publication/PubMed/26709044" } ] }, { "title": "Comparative analysis of Cu (I)-catalyzed alkyne-azide cycloaddition (CuAAC) and strain-promoted alkyne-azide cycloaddition (SPAAC) in O-GlcNAc proteomics.", "journal": "Electrophoresis", "date": "2016", "authors": "Li S, Zhu H, Wang J, Wang X, Li X, Ma C, Wen L, Yu B, Wang Y, Li J, Wang PG", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95678", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95678" } ], "reference": [ { "type": "PubMed", "id": "26853435", "url": "https://glygen.org/publication/PubMed/26853435" } ] }, { "title": "Cytokeratin 5/6 and P63 immunophenotype of thyroid lymphoepithelial complexes.", "journal": "Annals of diagnostic pathology", "date": "2016", "authors": "Handra-Luca A, Dragoescu E", "evidence": [ { "database": "RefSeq", "id": "NP_004684", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004684" } ], "reference": [ { "type": "PubMed", "id": "27130144", "url": "https://glygen.org/publication/PubMed/27130144" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95678", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95678" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95678", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95678" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "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": "The transglutaminase 1 enzyme is variably acylated by myristate and palmitate during differentiation in epidermal keratinocytes.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Steinert PM, Kim SY, Chung SI, Marekov LN", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "8824274", "url": "https://glygen.org/publication/PubMed/8824274" } ] }, { "title": "Direct evidence that involucrin is a major early isopeptide cross-linked component of the keratinocyte cornified cell envelope.", "journal": "The Journal of biological chemistry", "date": "1997", "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": "8999895", "url": "https://glygen.org/publication/PubMed/8999895" } ] }, { "title": "Characterization and purification of human corneodesmosin, an epidermal basic glycoprotein associated with corneocyte-specific modified desmosomes.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Simon M, Montezin M, Guerrin M, Durieux JJ, Serre G", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "9395522", "url": "https://glygen.org/publication/PubMed/9395522" } ] }, { "title": "Intermediate filament structure: hard alpha-keratin.", "journal": "Biophysical chemistry", "date": "1997", "authors": "Jones LN, Simon M, Watts NR, Booy FP, Steven AC, Parry DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6805567", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6805567" } ], "reference": [ { "type": "PubMed", "id": "9468612", "url": "https://glygen.org/publication/PubMed/9468612" } ] }, { "title": "Biochemical evidence that small proline-rich proteins and trichohyalin function in epithelia by modulation of the biomechanical properties of their cornified cell envelopes.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Steinert PM, Kartasova T, Marekov LN", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "9565599", "url": "https://glygen.org/publication/PubMed/9565599" } ] }, { "title": "A novel human type II cytokeratin, K6hf, specifically expressed in the companion layer of the hair follicle.", "journal": "J. Invest. Dermatol.", "date": "1998", "authors": "Winter H, Langbein L, Praetzel S, Jacobs M, Rogers MA, Leigh IM, Tidman N, Schweizer J", "evidence": [ { "database": "UniProtKB", "id": "O95678", "url": "https://www.uniprot.org/uniprot/O95678" } ], "reference": [ { "type": "PubMed", "id": "9856802", "url": "https://glygen.org/publication/PubMed/9856802" } ] } ], "pathway": [ { "id": "hsa:9119", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9119", "resource": "KEGG Pathway" }, { "id": "R-HSA-6805567", "name": "Keratinization", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6805567", "resource": "Reactome", "description": "Keratinization" }, { "id": "R-HSA-6809371", "name": "Formation of the cornified envelope", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371", "resource": "Reactome", "description": "Formation of the cornified envelope" } ], "orthologs": [ { "uniprot_canonical_ac": "Q6IG05-1", "protein_name": "Keratin, type II cytoskeletal 75", "gene_name": "Krt75", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSRQSTVTFHSGSRRGFSTASATTPTAGRSRFSSVSVARSSGNSGGLGRISGIGSGFGSRSLYNLGATRPVSVGGCAGSGFRSGFGGRASSSFGYGGGFGGPGFPVCPSGSIQEVTVNQSLLTPLNLQIDPTIQRVRKEEREQIKTLNNKFASFIDKVRFLEQQNKVLETKWNLLQEQGSRTVRQNLEPFFDAYVNDLRRQLDSVTAERGRLDAELRHMQEVVEDFKVRYEDEINKRAAAENEFVGLKKDVDGAYMNKVELEAKVDSLTDQINFYRMVYEAELSQMQNQVSDTSVVLSMDNNRSLDLDSIIAEVKAQYEDIANRSRAEAESWYQTKYEELQVTAGRHGDDLRNTKQEISEMNRMIQRLRSEIDAVKKQCSSLQTAISDTEQRGELALKDARAKLVELEDALQKAKQDMARLLREYQELMNVKLALDVEIATYRKLLEGEECRLSGEGVSPVNISVVTSTVSSGYGGGTNIGGGSLGLGGNSGYSFTTTGGHSLGTGLGGSGFTTSSSRGPVGSGSSIKFVSSTSSSRKSYKH", "length": 542 }, "evidence": [ { "id": "45916628", "url": "http://www.informatics.jax.org/homology/45916628", "database": "MGI" }, { "id": "O95678", "url": "https://omabrowser.org/oma/group/O95678/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8BGZ7-1", "protein_name": "Keratin, type II cytoskeletal 75", "gene_name": "Krt75", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSRQSTITFHSGSRRGFSTASATTPTAGRSRFSSVSVARSSGNSGGLGRISGIGSGFGSRSLYNLGGTRRVSIGGCAGSGFRGGFGGRTSSGFGGSSGFAYGGGIGGGFGGPGFSVCPSGGIQEVTVNQSLLTPLNLQIDPTIQRVRKEEREQIKTLNNKFASFIDKVRFLEQQNKVLETKWNLLQEQGSRTVRQNLEPFFDTYVNDLRRQLDGITAERGRLDAELRNMQEVVEDFKVRYEDEINKRAAAENEFVGLKKDVDSAYMNKVELEAKVDSLTDQINFYRMIYEAELSQMQNQVSDTSVVLSMDNNRSLDLDSIIAEVKAQYEDIANRSRAEAESWYQTKYEELQVTAGRHGDDLRNTKQEISEMNRMIQRLRSEIDAVKKQCSSLQTAISDAEQRGELALKDARAKLMELEDALQKAKQDMARLLREYQELMNVKLALDVEIATYRKLLEGEECRLSGEGVSPVNISVVTSTVSSGYGGGANIGGGSLGLGGNSGYSFTTSGGHSLGTGLGGSGFTTTSSRGPVGSGSSIKFVSSTSSRKSYKH", "length": 551 }, "evidence": [ { "id": "45916628", "url": "http://www.informatics.jax.org/homology/45916628", "database": "MGI" }, { "id": "O95678", "url": "https://omabrowser.org/oma/group/O95678/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O95678", "url": "https://www.uniprot.org/uniprot/O95678" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "O95678", "url": "https://www.uniprot.org/uniprot/O95678" } ], "pmid": "" }, { "name": "intermediate filament", "id": "GO:0005882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005882", "evidence": [ { "database": "UniProtKB", "id": "O95678", "url": "https://www.uniprot.org/uniprot/O95678" } ], "pmid": "" }, { "name": "cornified envelope", "id": "GO:0001533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001533", "evidence": [ { "database": "UniProtKB", "id": "O95678", "url": "https://www.uniprot.org/uniprot/O95678" } ], "pmid": "" }, { "name": "keratin filament", "id": "GO:0045095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045095", "evidence": [ { "database": "UniProtKB", "id": "O95678", "url": "https://www.uniprot.org/uniprot/O95678" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "keratinization", "id": "GO:0031424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031424", "evidence": [ { "database": "UniProtKB", "id": "O95678", "url": "https://www.uniprot.org/uniprot/O95678" } ], "pmid": "" }, { "name": "intermediate filament organization", "id": "GO:0045109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045109", "evidence": [ { "database": "UniProtKB", "id": "O95678", "url": "https://www.uniprot.org/uniprot/O95678" } ], "pmid": "" }, { "name": "hematopoietic progenitor cell differentiation", "id": "GO:0002244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002244", "evidence": [ { "database": "UniProtKB", "id": "O95678", "url": "https://www.uniprot.org/uniprot/O95678" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "O95678", "url": "https://www.uniprot.org/uniprot/O95678" } ], "pmid": "" }, { "name": "structural constituent of skin epidermis", "id": "GO:0030280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030280", "evidence": [ { "database": "UniProtKB", "id": "O95678", "url": "https://www.uniprot.org/uniprot/O95678" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 127, "end_pos": 129, "annotation": "n_glycosylation_sequon" }, { "start_pos": 332, "end_pos": 334, "annotation": "n_glycosylation_sequon" }, { "start_pos": 471, "end_pos": 473, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [ 150 ], "glycation_sites": [], "phosphorylation_sites": [ 162, 334, 383 ], "sequon_annotation_sites": [ { "start_pos": 127, "end_pos": 129 }, { "start_pos": 332, "end_pos": 334 }, { "start_pos": 471, "end_pos": 473 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 66 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }