[ { "uniprot_canonical_ac": "P12111-1", "uniprot_ac": "P12111", "uniprot_id": "CO6A3_HUMAN", "mass": { "chemical_mass": 343669.0, "monoisotopic_mass": 343669.0 }, "refseq": { "ac": "NP_004360", "name": "collagen alpha-3(VI) chain isoform 1 precursor", "summary": "This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004360" }, "gene_names": [ { "name": "COL6A3", "type": "recommended", "evidence": [ { "id": "P12111", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P12111" } ] }, { "name": "BTHLM1C", "type": "synonym", "evidence": [ { "id": "NP_004360", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004360" } ] }, { "name": "BTHLM1", "type": "synonym", "evidence": [ { "id": "NP_004360", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004360" } ] }, { "name": "COL6A3", "type": "synonym", "evidence": [ { "id": "NP_004360", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004360" } ] }, { "name": "DYT27", "type": "synonym", "evidence": [ { "id": "NP_004360", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004360" } ] }, { "name": "UCMD1C", "type": "synonym", "evidence": [ { "id": "NP_004360", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004360" } ] }, { "name": "UCMD1", "type": "synonym", "evidence": [ { "id": "NP_004360", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004360" } ] } ], "protein_names": [ { "name": "Collagen alpha-3(VI) chain", "type": "recommended", "evidence": [ { "id": "P12111", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P12111/entry#names_and_taxonomy" } ] }, { "name": "collagen VI, alpha-3 polypeptide", "type": "synonym", "evidence": [ { "id": "NP_004360", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004360" } ] }, { "name": "collagen alpha-3(VI) chain isoform 1 precursor", "type": "synonym", "evidence": [ { "id": "NP_004360", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004360" } ] }, { "name": "collagen alpha-3(VI) chain", "type": "synonym", "evidence": [ { "id": "NP_004360", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004360" } ] }, { "name": "collagen, type VI, alpha 3", "type": "synonym", "evidence": [ { "id": "NP_004360", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004360" } ] }, { "name": "epididymis secretory sperm binding protein", "type": "synonym", "evidence": [ { "id": "NP_004360", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004360" } ] } ], "function": [ { "annotation": "COL6A3 Exosomes Promote Tumor Dissemination and Metastasis in Epithelial Ovarian Cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004360", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004360" }, { "database": "PubMed", "id": "39125689", "url": "https://glygen.org/publication/PubMed/39125689" } ] }, { "annotation": "Collagen VI acts as a cell-binding protein.", "evidence": [ { "database": "UniProtKB", "id": "P12111", "url": "https://www.uniprot.org/uniprotkb/P12111#function" } ] }, { "annotation": "Integration of transcriptomes of senescent cell models with multi-tissue patient samples reveals reduced COL6A3 as an inducer of senescence.", "evidence": [ { "database": "RefSeq", "id": "NP_004360", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004360" }, { "database": "PubMed", "id": "37938972", "url": "https://glygen.org/publication/PubMed/37938972" } ] }, { "annotation": "This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_004360", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004360" } ] } ], "disease": [ { "disease_id": "DOID:0050557", "recommended_name": { "id": "DOID:0050557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050557", "name": "congenital muscular dystrophy", "description": "A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted." }, "synonyms": [], "unlinked_id_list": [], "evidence": [ { "id": "0050557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050557" } ] }, { "disease_id": "DOID:0050558", "recommended_name": { "id": "DOID:0050558", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050558", "name": "Ullrich congenital muscular dystrophy", "description": "A congenital muscular dystrophy that is characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, with a loss of ambulation (if achieved) and uniform respiratory insufficiency during childhood that has_material_basis_in mutations in COL6A1, COL6A2 and COL6A3 genes." }, "synonyms": [ { "id": "DOID:0050558", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050558", "name": "ULLRICH DISEASE", "description": "" }, { "id": "DOID:0050558", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050558", "name": "Ullrich scleroatonic muscular dystrophy", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050558", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050558" } ] }, { "disease_id": "DOID:0050591", "recommended_name": { "id": "DOID:0050591", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050591", "name": "tooth agenesis", "description": "A tooth disease characterized by failure to develop one or more missing teeth." }, "synonyms": [ { "id": "DOID:0050591", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050591", "name": "familial tooth agenesis", "description": "" }, { "id": "DOID:0050591", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050591", "name": "hypodontia", "description": "" }, { "id": "DOID:0050591", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050591", "name": "oligodontia", "description": "" }, { "id": "DOID:0050591", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050591", "name": "selective tooth agenesis", "description": "" }, { "id": "MONDO:0007129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007129", "name": "tooth agenesis, selective, 1", "description": "Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene characterized by varying severity of tooth agenesis that may be seen in combination with orofacial clefting in some individuals." }, { "id": "MONDO:0007129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007129", "name": "MSX1 tooth agenesis", "description": "" }, { "id": "MONDO:0007129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007129", "name": "MSX1-related tooth agenesis with or without orofacial cleft", "description": "" }, { "id": "MONDO:0007129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007129", "name": "tooth agenesis caused by mutation in MSX1", "description": "" }, { "id": "MONDO:0007129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007129", "name": "tooth agenesis, selective, 1", "description": "" }, { "id": "MONDO:0007129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007129", "name": "tooth agenesis, selective, 1, with or without orofacial cleft", "description": "" }, { "id": "MONDO:0007129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007129", "name": "tooth agenesis, selective, type 1", "description": "" }, { "id": "MONDO:0007129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007129", "name": "STHAG1", "description": "" }, { "id": "MONDO:0007881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007881", "name": "tooth agenesis, selective, 4", "description": "Any tooth agenesis in which the cause of the disease is a mutation in the WNT10A gene." }, { "id": "MONDO:0007881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007881", "name": "WNT10A tooth agenesis", "description": "" }, { "id": "MONDO:0007881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007881", "name": "tooth agenesis caused by mutation in WNT10A", "description": "" }, { "id": "MONDO:0007881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007881", "name": "tooth agenesis, selective, 4", "description": "" }, { "id": "MONDO:0007881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007881", "name": "tooth agenesis, selective, type 4", "description": "" }, { "id": "MONDO:0007881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007881", "name": "STHAG4", "description": "" }, { "id": "MONDO:0010741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010741", "name": "tooth agenesis, selective, X-linked, 1", "description": "Any tooth agenesis in which the cause of the disease is a mutation in the EDA gene." }, { "id": "MONDO:0010741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010741", "name": "EDA tooth agenesis", "description": "" }, { "id": "MONDO:0010741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010741", "name": "tooth agenesis caused by mutation in EDA", "description": "" }, { "id": "MONDO:0010741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010741", "name": "tooth agenesis, selective, X-linked 1, X-linked dominant", "description": "" }, { "id": "MONDO:0010741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010741", "name": "tooth agenesis, selective, X-linked, 1", "description": "" }, { "id": "MONDO:0010741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010741", "name": "tooth agenesis, selective, X-linked, type 1", "description": "" }, { "id": "MONDO:0010741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010741", "name": "STHAGX1", "description": "" }, { "id": "MONDO:0011265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011265", "name": "tooth agenesis, selective, 2", "description": "" }, { "id": "MONDO:0011265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011265", "name": "STHAG2", "description": "" }, { "id": "MONDO:0011265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011265", "name": "tooth agenesis, selective, 2", "description": "" }, { "id": "MONDO:0011477", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011477", "name": "tooth agenesis, selective, 3", "description": "Any tooth agenesis in which the cause of the disease is a mutation in the PAX9 gene." }, { "id": "MONDO:0011477", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011477", "name": "PAX9 tooth agenesis", "description": "" }, { "id": "MONDO:0011477", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011477", "name": "PAX9-related selective tooth agenesis", "description": "" }, { "id": "MONDO:0011477", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011477", "name": "STHAG3", "description": "" }, { "id": "MONDO:0011477", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011477", "name": "hypodontia/oligodontia 3", "description": "" }, { "id": "MONDO:0011477", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011477", "name": "tooth agenesis caused by mutation in PAX9", "description": "" }, { "id": "MONDO:0011477", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011477", "name": "tooth agenesis, selective, 3", "description": "" }, { "id": "MONDO:0011477", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011477", "name": "tooth agenesis, selective, type 3", "description": "" }, { "id": "MONDO:0012583", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012583", "name": "tooth agenesis, selective, 5", "description": "" }, { "id": "MONDO:0012583", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012583", "name": "STHAG5", "description": "" }, { "id": "MONDO:0012583", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012583", "name": "tooth agenesis, selective, 5", "description": "" }, { "id": "MIM:106600", "resource": "MIM", "url": "https://www.omim.org/entry/106600", "name": "Tooth agenesis, selective, 1", "description": "Tooth agenesis, selective, 1" }, { "id": "MIM:150400", "resource": "MIM", "url": "https://www.omim.org/entry/150400", "name": "Tooth agenesis, selective, 4", "description": "Tooth agenesis, selective, 4" }, { "id": "MIM:313500", "resource": "MIM", "url": "https://www.omim.org/entry/313500", "name": "Tooth agenesis, selective, X-linked, 1", "description": "Tooth agenesis, selective, X-linked, 1" }, { "id": "MIM:604625", "resource": "MIM", "url": "https://www.omim.org/entry/604625", "name": "Tooth agenesis, selective, 3", "description": "Tooth agenesis, selective, 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050591" } ] }, { "disease_id": "DOID:0050651", "recommended_name": { "id": "DOID:0050651", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050651", "name": "atrioventricular septal defect", "description": "A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs." }, "synonyms": [ { "id": "DOID:0050651", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050651", "name": "AVCD", "description": "" }, { "id": "DOID:0050651", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050651", "name": "AVSD", "description": "" }, { "id": "DOID:0050651", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050651", "name": "ECD", "description": "" }, { "id": "DOID:0050651", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050651", "name": "atrioventricular canal defect", "description": "" }, { "id": "DOID:0050651", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050651", "name": "endocardial cushion defect", "description": "" }, { "id": "MONDO:0013747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013747", "name": "atrioventricular septal defect 4", "description": "Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene." }, { "id": "MONDO:0013747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013747", "name": "GATA4 atrioventricular septal defect", "description": "" }, { "id": "MONDO:0013747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013747", "name": "atrioventricular septal defect 4", "description": "" }, { "id": "MONDO:0013747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013747", "name": "atrioventricular septal defect caused by mutation in GATA4", "description": "" }, { "id": "MONDO:0013747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013747", "name": "atrioventricular septal defect type 4", "description": "" }, { "id": "MONDO:0013747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013747", "name": "AVSD4", "description": "" }, { "id": "MONDO:0013769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013769", "name": "atrioventricular septal defect 5", "description": "Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA6 gene." }, { "id": "MONDO:0013769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013769", "name": "GATA6 atrioventricular septal defect", "description": "" }, { "id": "MONDO:0013769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013769", "name": "atrioventricular septal defect 5", "description": "" }, { "id": "MONDO:0013769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013769", "name": "atrioventricular septal defect caused by mutation in GATA6", "description": "" }, { "id": "MONDO:0013769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013769", "name": "atrioventricular septal defect type 5", "description": "" }, { "id": "MONDO:0013769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013769", "name": "AVSD5", "description": "" }, { "id": "MONDO:0859565", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859565", "name": "atrioventricular septal defect", "description": "" }, { "id": "MIM:614430", "resource": "MIM", "url": "https://www.omim.org/entry/614430", "name": "Atrioventricular septal defect 4", "description": "Atrioventricular septal defect 4" }, { "id": "MIM:614474", "resource": "MIM", "url": "https://www.omim.org/entry/614474", "name": "Atrioventricular septal defect 5", "description": "Atrioventricular septal defect 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "disease_id": "DOID:0050787", "recommended_name": { "id": "DOID:0050787", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050787", "name": "juvenile polyposis syndrome", "description": "A gastrointestinal system disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum." }, "synonyms": [ { "id": "MONDO:0017380", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017380", "name": "juvenile polyposis syndrome", "description": "Juvenile gastrointestinal polyposis (JIP) is a rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract." }, { "id": "MONDO:0017380", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017380", "name": "JIP", "description": "" }, { "id": "MONDO:0017380", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017380", "name": "JPS", "description": "" }, { "id": "MONDO:0017380", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017380", "name": "jPS", "description": "" }, { "id": "MONDO:0017380", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017380", "name": "juvenile gastrointestinal polyposis", "description": "" }, { "id": "MONDO:0017380", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017380", "name": "juvenile intestinal polyposis", "description": "" }, { "id": "MONDO:0017380", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017380", "name": "juvenile multiple polyps syndrome", "description": "" }, { "id": "MONDO:0017380", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017380", "name": "juvenile polyposis", "description": "" }, { "id": "MONDO:0017380", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017380", "name": "juvenile polyposis syndrome", "description": "" }, { "id": "MONDO:0017380", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017380", "name": "polyposis, juvenile intestinal", "description": "" }, { "id": "MONDO:0017380", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017380", "name": "PJI", "description": "" }, { "id": "MONDO:0017380", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017380", "name": "polyposis familial of entire gastrointestinal tract", "description": "" }, { "id": "MONDO:0017380", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017380", "name": "polyposis juvenile intestinal", "description": "" }, { "id": "MIM:174900", "resource": "MIM", "url": "https://www.omim.org/entry/174900", "name": "Juvenile polyposis syndrome", "description": "Juvenile polyposis syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050787", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050787" } ] }, { "disease_id": "DOID:0051061", "recommended_name": { "id": "DOID:0051061", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen." }, "synonyms": [], "unlinked_id_list": [], "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ] }, { "disease_id": "DOID:0060887", "recommended_name": { "id": "DOID:0060887", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060887", "name": "ossification of the posterior longitudinal ligament of spine", "description": "A connective tissue disease characterized by ectopic ossification of the posterior longitudinal spinal ligament resulting in spinal cord compression, myelopathy and hyperreflexia." }, "synonyms": [ { "id": "DOID:0060887", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060887", "name": "OPLL", "description": "" }, { "id": "MONDO:0011230", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011230", "name": "ossification of the posterior longitudinal ligament of the spine", "description": "A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms." }, { "id": "MONDO:0011230", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011230", "name": "OPLL", "description": "" }, { "id": "MONDO:0011230", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011230", "name": "ossification of Posterior longitudinal ligament", "description": "" }, { "id": "MONDO:0011230", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011230", "name": "ossification of the POSTERIOR longitudinal ligament of spine", "description": "" }, { "id": "MIM:602475", "resource": "MIM", "url": "https://www.omim.org/entry/602475", "name": "Ossification of the posterior longitudinal ligament of the spine", "description": "Ossification of the posterior longitudinal ligament of the spine" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060887", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060887" }, { "id": "0060887", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060887" } ] }, { "disease_id": "DOID:0060943", "recommended_name": { "id": "DOID:0060943", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060943", "name": "Ullrich congenital muscular dystrophy 1C", "description": "An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous or heterozygous mutation in the COL6A3 gene on chromosome 2q37." }, "synonyms": [ { "id": "MONDO:0958236", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0958236", "name": "Ullrich congenital muscular dystrophy 1C", "description": "" }, { "id": "MIM:620728", "resource": "MIM", "url": "https://www.omim.org/entry/620728", "name": "Ullrich congenital muscular dystrophy 1C", "description": "Ullrich congenital muscular dystrophy 1C" } ], "unlinked_id_list": [], "evidence": [ { "id": "620728", "database": "MIM", "url": "https://www.omim.org/entry/620728" }, { "id": "0060943", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060943" } ] }, { "disease_id": "DOID:0061200", "recommended_name": { "id": "DOID:0061200", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0061200", "name": "Bethlem myopathy 1C", "description": "A Bethlem myopathy that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the COL6A3 gene on chromosome 2q37." }, "synonyms": [ { "id": "MONDO:0958234", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0958234", "name": "Bethlem myopathy 1C", "description": "" }, { "id": "MIM:620726", "resource": "MIM", "url": "https://www.omim.org/entry/620726", "name": "Bethlem myopathy 1C", "description": "Bethlem myopathy 1C" } ], "unlinked_id_list": [], "evidence": [ { "id": "620726", "database": "MIM", "url": "https://www.omim.org/entry/620726" }, { "id": "0061200", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061200" } ] }, { "disease_id": "DOID:0080015", "recommended_name": { "id": "DOID:0080015", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080015", "name": "physical disorder", "description": "A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment." }, "synonyms": [ { "id": "DOID:0080015", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080015", "name": "congenital disorder", "description": "" } ], "unlinked_id_list": [ "DOID:0111217", "DOID:0050674", "DOID:1342", "DOID:0112183", "DOID:0061100", "DOID:0111797", "DOID:0112130", "DOID:0111716" ], "evidence": [ { "id": "0080015", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080015" } ] }, { "disease_id": "DOID:0080205", "recommended_name": { "id": "DOID:0080205", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080205", "name": "congenital anomalies of the kidney and urinary tract", "description": "A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux." }, "synonyms": [ { "id": "DOID:0080205", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080205", "name": "CAKUT", "description": "" }, { "id": "DOID:0080205", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080205", "name": "Renal or urinary tract malformation", "description": "" }, { "id": "DOID:0080205", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080205", "name": "MCDK", "description": "" }, { "id": "DOID:0080205", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080205", "name": "Multicystic kidney dysplasia", "description": "" }, { "id": "DOID:0080205", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080205", "name": "congenital anomalies of kidney and urinary tract", "description": "" }, { "id": "MONDO:0012561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012561", "name": "congenital anomalies of kidney and urinary tract 1", "description": "Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the DSTYK gene." }, { "id": "MONDO:0012561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012561", "name": "CAKUT1", "description": "" }, { "id": "MONDO:0012561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012561", "name": "DSTYK congenital anomaly of kidney and urinary tract", "description": "" }, { "id": "MONDO:0012561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012561", "name": "congenital anomalies of kidney and urinary tract 1", "description": "" }, { "id": "MONDO:0012561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012561", "name": "congenital anomaly of kidney and urinary tract caused by mutation in DSTYK", "description": "" }, { "id": "MONDO:0012561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012561", "name": "renal hypodysplasia, nonsyndromic, 1", "description": "" }, { "id": "MIM:610805", "resource": "MIM", "url": "https://www.omim.org/entry/610805", "name": "Congenital anomalies of the kidney and urinary tract 1", "description": "Congenital anomalies of the kidney and urinary tract 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080205" } ] }, { "disease_id": "DOID:0080207", "recommended_name": { "id": "DOID:0080207", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080207", "name": "congenital anomalies of the kidney and urinary tract 2", "description": "A congenital anomalies of the kidney and urinary tract that has_material_basis_in heterozygous mutation in the TBX18 gene on chromosome 6q14." }, "synonyms": [ { "id": "DOID:0080207", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080207", "name": "CAKUT2", "description": "" }, { "id": "DOID:0080207", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080207", "name": "Multicystic Dysplastic Kidney", "description": "" }, { "id": "DOID:0080207", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080207", "name": "congenital anomalies of kidney and urinary tract 2", "description": "" }, { "id": "MONDO:0027676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0027676", "name": "congenital anomalies of kidney and urinary tract 2", "description": "Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the TBX18 gene." }, { "id": "MONDO:0027676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0027676", "name": "TBX18 congenital anomaly of kidney and urinary tract", "description": "" }, { "id": "MONDO:0027676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0027676", "name": "congenital anomalies of kidney and urinary tract 2", "description": "" }, { "id": "MONDO:0027676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0027676", "name": "congenital anomalies of kidney and urinary tract type 2", "description": "" }, { "id": "MONDO:0027676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0027676", "name": "congenital anomaly of kidney and urinary tract caused by mutation in TBX18", "description": "" }, { "id": "MONDO:0027676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0027676", "name": "CAKUT2", "description": "" }, { "id": "MIM:143400", "resource": "MIM", "url": "https://www.omim.org/entry/143400", "name": "Congenital anomalies of kidney and urinary tract 2", "description": "Congenital anomalies of kidney and urinary tract 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080207", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080207" }, { "id": "0080207", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080207" } ] }, { "disease_id": "DOID:0080313", "recommended_name": { "id": "DOID:0080313", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080313", "name": "cleft palate-lateral synechia syndrome", "description": "A physical disorder that is characterized by fusion of maxilla and mandible." }, "synonyms": [ { "id": "DOID:0080313", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080313", "name": "CPLS syndrome", "description": "" }, { "id": "DOID:0080313", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080313", "name": "syngnathia", "description": "" }, { "id": "MONDO:0007337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007337", "name": "cleft palate-lateral synechia syndrome", "description": "Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner." }, { "id": "MONDO:0007337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007337", "name": "CPLS syndrome", "description": "" }, { "id": "MONDO:0007337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007337", "name": "cleft palate-lateral synechia syndrome", "description": "" }, { "id": "MONDO:0007337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007337", "name": "cleft palate lateral synechia syndrome", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080313", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080313" } ] }, { "disease_id": "DOID:0080404", "recommended_name": { "id": "DOID:0080404", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080404", "name": "orofacial cleft 11", "description": "An orofacial cleft that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22." }, "synonyms": [ { "id": "DOID:0080404", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080404", "name": "nonsyndromic cleft lip with or without cleft palate 11", "description": "" }, { "id": "MONDO:0010906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010906", "name": "orofacial cleft 11", "description": "Any orofacial cleft in which the cause of the disease is a mutation in the BMP4 gene." }, { "id": "MONDO:0010906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010906", "name": "BMP4 orofacial cleft", "description": "" }, { "id": "MONDO:0010906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010906", "name": "orofacial cleft 11", "description": "" }, { "id": "MONDO:0010906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010906", "name": "orofacial cleft caused by mutation in BMP4", "description": "" }, { "id": "MONDO:0010906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010906", "name": "orofacial cleft type 11", "description": "" }, { "id": "MONDO:0010906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010906", "name": "OFC11", "description": "" }, { "id": "MIM:600625", "resource": "MIM", "url": "https://www.omim.org/entry/600625", "name": "Non-syndromic orofacial cleft 11", "description": "Non-syndromic orofacial cleft 11" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080404", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080404" }, { "id": "0080404", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080404" } ] }, { "disease_id": "DOID:0090050", "recommended_name": { "id": "DOID:0090050", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090050", "name": "dystonia 27", "description": "A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37." }, "synonyms": [ { "id": "MONDO:0014627", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014627", "name": "dystonia 27", "description": "Any dystonic disorder in which the cause of the disease is a mutation in the COL6A3 gene." }, { "id": "MONDO:0014627", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014627", "name": "COL6A3 dystonic disorder", "description": "" }, { "id": "MONDO:0014627", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014627", "name": "dystonia 27", "description": "" }, { "id": "MONDO:0014627", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014627", "name": "dystonia type 27", "description": "" }, { "id": "MONDO:0014627", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014627", "name": "dystonic disorder caused by mutation in COL6A3", "description": "" }, { "id": "MONDO:0014627", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014627", "name": "DYT27", "description": "" }, { "id": "MIM:616411", "resource": "MIM", "url": "https://www.omim.org/entry/616411", "name": "Dystonia 27", "description": "Dystonia 27" } ], "unlinked_id_list": [], "evidence": [ { "id": "616411", "database": "MIM", "url": "https://www.omim.org/entry/616411" }, { "id": "0090050", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090050" } ] }, { "disease_id": "DOID:0110122", "recommended_name": { "id": "DOID:0110122", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110122", "name": "Axenfeld-Rieger syndrome type 3", "description": "An Axenfeld-Rieger characterized by an anteriorly displaced Schwalbe line, the presence of another ocular anomaly (hypoplasia of iris stroma, corectopia, or iridocorneal adhesions), and nonocular anomalies including maxillary hypoplasia, hypodontia, microdontia, protuberant periumbilical skin, sensorineural hearing loss, and congenital cardiac or renal anomalies syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25." }, "synonyms": [ { "id": "DOID:0110122", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110122", "name": "RIEG3", "description": "" }, { "id": "DOID:0110122", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110122", "name": "Rieger syndrome type 3", "description": "" }, { "id": "DOID:0110122", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110122", "name": "Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss", "description": "" }, { "id": "DOID:0110122", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110122", "name": "anterior chamber cleavage syndrome", "description": "" }, { "id": "DOID:0110122", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110122", "name": "anterior segment mesenchymal dysgenesis", "description": "" }, { "id": "MONDO:0011233", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011233", "name": "Axenfeld-Rieger syndrome type 3", "description": "Any Axenfeld-Rieger syndrome in which the cause of the disease is a mutation in the FOXC1 gene." }, { "id": "MONDO:0011233", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011233", "name": "Axenfeld-Rieger syndrome caused by mutation in FOXC1", "description": "" }, { "id": "MONDO:0011233", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011233", "name": "Axenfeld-Rieger syndrome type 3", "description": "" }, { "id": "MONDO:0011233", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011233", "name": "FOXC1 Axenfeld-Rieger syndrome", "description": "" }, { "id": "MONDO:0011233", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011233", "name": "RIEG3", "description": "" }, { "id": "MONDO:0011233", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011233", "name": "anterior chamber cleavage syndrome", "description": "" }, { "id": "MONDO:0011233", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011233", "name": "Axenfeld-Rieger syndrome, type 3", "description": "" }, { "id": "MIM:602482", "resource": "MIM", "url": "https://www.omim.org/entry/602482", "name": "Axenfeld-Rieger syndrome 3", "description": "Axenfeld-Rieger syndrome 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110122", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110122" } ] }, { "disease_id": "DOID:0111535", "recommended_name": { "id": "DOID:0111535", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111535", "name": "progressive osseous heteroplasia", "description": "A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosome 20q13.32." }, "synonyms": [ { "id": "DOID:0111535", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111535", "name": "POH", "description": "" }, { "id": "DOID:0111535", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111535", "name": "ectopic ossification familial type", "description": "" }, { "id": "DOID:0111535", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111535", "name": "familial ectopic ossification", "description": "" }, { "id": "DOID:0111535", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111535", "name": "osteoma cutis", "description": "" }, { "id": "MONDO:0008153", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008153", "name": "progressive osseous heteroplasia", "description": "A rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation." }, { "id": "MONDO:0008153", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008153", "name": "POH", "description": "" }, { "id": "MONDO:0008153", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008153", "name": "familial ectopic ossification", "description": "" }, { "id": "MONDO:0008153", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008153", "name": "poh", "description": "" }, { "id": "MONDO:0008153", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008153", "name": "ectopic ossification familial type", "description": "" }, { "id": "MONDO:0008153", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008153", "name": "osseous heteroplasia, progressive", "description": "" }, { "id": "MIM:166350", "resource": "MIM", "url": "https://www.omim.org/entry/166350", "name": "Progressive osseous heteroplasia", "description": "Progressive osseous heteroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111535", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111535" } ] }, { "disease_id": "DOID:0111805", "recommended_name": { "id": "DOID:0111805", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111805", "name": "syndromic microphthalmia 6", "description": "A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.2." }, "synonyms": [ { "id": "DOID:0111805", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111805", "name": "Bakrania-Ragge syndrome", "description": "" }, { "id": "DOID:0111805", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111805", "name": "MCOPS6", "description": "" }, { "id": "DOID:0111805", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111805", "name": "microphthalmia and pituitary anomalies", "description": "" }, { "id": "DOID:0111805", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111805", "name": "microphthalmia with brain and digit anomalies", "description": "" }, { "id": "DOID:0111805", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111805", "name": "anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia", "description": "" }, { "id": "DOID:0111805", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111805", "name": "syndromic microphthalmia type 6", "description": "" }, { "id": "MONDO:0011936", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011936", "name": "microphthalmia with brain and digit anomalies", "description": "Microphthalmia with brain and digit anomalies is characterized by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development." }, { "id": "MONDO:0011936", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011936", "name": "Bakrania-Ragge syndrome", "description": "" }, { "id": "MONDO:0011936", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011936", "name": "MCOPS6", "description": "" }, { "id": "MONDO:0011936", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011936", "name": "microphthalmia with brain and digit anomalies", "description": "" }, { "id": "MONDO:0011936", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011936", "name": "microphthalmia, syndromic type 6", "description": "" }, { "id": "MONDO:0011936", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011936", "name": "syndromic microphthalmia type 6", "description": "" }, { "id": "MONDO:0011936", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011936", "name": "anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia", "description": "" }, { "id": "MONDO:0011936", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011936", "name": "microphthalmia syndromic 6", "description": "" }, { "id": "MONDO:0011936", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011936", "name": "microphthalmia, syndromic 6", "description": "" }, { "id": "MIM:607932", "resource": "MIM", "url": "https://www.omim.org/entry/607932", "name": "Microphthalmia, syndromic, 6", "description": "Microphthalmia, syndromic, 6" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111805", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111805" }, { "id": "0111805", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111805" } ] }, { "disease_id": "DOID:10126", "recommended_name": { "id": "DOID:10126", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10126", "name": "keratoconus", "description": "A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape." }, "synonyms": [ { "id": "DOID:10126", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10126", "name": "conical cornea", "description": "" }, { "id": "MONDO:0007851", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007851", "name": "keratoconus 1", "description": "Any keratoconus in which the cause of the disease is a mutation in the VSX1 gene." }, { "id": "MONDO:0007851", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007851", "name": "VSX1 keratoconus (disease)", "description": "" }, { "id": "MONDO:0007851", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007851", "name": "keratoconus (disease) caused by mutation in VSX1", "description": "" }, { "id": "MONDO:0007851", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007851", "name": "keratoconus 1", "description": "" }, { "id": "MONDO:0007851", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007851", "name": "keratoconus type 1", "description": "" }, { "id": "MONDO:0007851", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007851", "name": "KTCN1", "description": "" }, { "id": "MONDO:0012069", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012069", "name": "keratoconus 3", "description": "" }, { "id": "MONDO:0012069", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012069", "name": "KTCN3", "description": "" }, { "id": "MONDO:0012069", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012069", "name": "keratoconus 3", "description": "" }, { "id": "MONDO:0012158", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012158", "name": "keratoconus 2", "description": "" }, { "id": "MONDO:0012158", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012158", "name": "KTCN2", "description": "" }, { "id": "MONDO:0012158", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012158", "name": "keratoconus 2", "description": "" }, { "id": "MONDO:0012236", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012236", "name": "keratoconus 4", "description": "" }, { "id": "MONDO:0012236", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012236", "name": "KTCN4", "description": "" }, { "id": "MONDO:0012236", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012236", "name": "keratoconus 4", "description": "" }, { "id": "MONDO:0013830", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013830", "name": "keratoconus 5", "description": "" }, { "id": "MONDO:0013830", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013830", "name": "KTCN5", "description": "" }, { "id": "MONDO:0013830", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013830", "name": "keratoconus 5", "description": "" }, { "id": "MONDO:0013831", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013831", "name": "keratoconus 6", "description": "" }, { "id": "MONDO:0013831", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013831", "name": "KTCN6", "description": "" }, { "id": "MONDO:0013831", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013831", "name": "keratoconus 6", "description": "" }, { "id": "MONDO:0013832", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013832", "name": "keratoconus 8", "description": "" }, { "id": "MONDO:0013832", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013832", "name": "KTCN8", "description": "" }, { "id": "MONDO:0013832", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013832", "name": "keratoconus 8", "description": "" }, { "id": "MONDO:0013833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013833", "name": "keratoconus 7", "description": "" }, { "id": "MONDO:0013833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013833", "name": "KTCN7", "description": "" }, { "id": "MONDO:0013833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013833", "name": "keratoconus 7", "description": "" }, { "id": "MIM:148300", "resource": "MIM", "url": "https://www.omim.org/entry/148300", "name": "Keratoconus 1", "description": "Keratoconus 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "10126", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10126" }, { "id": "10126", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10126" } ] }, { "disease_id": "DOID:10286", "recommended_name": { "id": "DOID:10286", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10286", "name": "prostate carcinoma", "description": "A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." }, "synonyms": [ { "id": "DOID:10286", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10286", "name": "cancer of prostate", "description": "" }, { "id": "DOID:10286", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10286", "name": "carcinoma of prostate", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "10286", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10286" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1070", "recommended_name": { "id": "DOID:1070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure." }, "synonyms": [ { "id": "DOID:1070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1070", "name": "chronic simple glaucoma", "description": "" }, { "id": "MONDO:0100553", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100553", "name": "OPTN-related open angle glaucoma", "description": "Any open angle glaucoma in which the cause of the disease is a mutation in the OPTN gene." }, { "id": "MONDO:0100553", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100553", "name": "OPTN-related open angle glaucoma", "description": "" }, { "id": "MONDO:0100553", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100553", "name": "glaucoma 1, open angle, E", "description": "" }, { "id": "MIM:137760", "resource": "MIM", "url": "https://www.omim.org/entry/137760", "name": "Glaucoma, primary open angle", "description": "Glaucoma, primary open angle" } ], "unlinked_id_list": [], "evidence": [ { "id": "1070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ] }, { "disease_id": "DOID:10763", "recommended_name": { "id": "DOID:10763", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries." }, "synonyms": [ { "id": "DOID:10763", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10763", "name": "HTN", "description": "" }, { "id": "DOID:10763", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10763", "name": "hyperpiesia", "description": "" }, { "id": "DOID:10763", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10763", "name": "vascular hypertensive disorder", "description": "" } ], "unlinked_id_list": [ "DOID:13731", "DOID:11130" ], "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://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" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:11963", "recommended_name": { "id": "DOID:11963", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11963", "name": "esophagitis", "description": "" }, "synonyms": [ { "id": "DOID:11963", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11963", "name": "acute esophagitis", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "11963", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11963" } ] }, { "disease_id": "DOID:12185", "recommended_name": { "id": "DOID:12185", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12185", "name": "otosclerosis", "description": "An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule." }, "synonyms": [ { "id": "MONDO:0008164", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008164", "name": "otosclerosis 1", "description": "" }, { "id": "MONDO:0008164", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008164", "name": "OTSC1", "description": "" }, { "id": "MONDO:0008164", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008164", "name": "otosclerosis 1", "description": "" }, { "id": "MONDO:0008164", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008164", "name": "OTS", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "12185", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12185" } ] }, { "disease_id": "DOID:1222", "recommended_name": { "id": "DOID:1222", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1222", "name": "cartilage disease", "description": "A connective tissue disease that is located_in cartilage." }, "synonyms": [ { "id": "DOID:1222", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1222", "name": "Cartilage disorder", "description": "" }, { "id": "DOID:1222", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1222", "name": "Chondropathy", "description": "" } ], "unlinked_id_list": [ "DOID:0112284", "DOID:0070305", "DOID:0080049", "DOID:0080942", "DOID:0112280" ], "evidence": [ { "id": "1222", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1222" } ] }, { "disease_id": "DOID:13207", "recommended_name": { "id": "DOID:13207", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13207", "name": "proliferative diabetic retinopathy", "description": "" }, "synonyms": [ { "id": "DOID:13207", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13207", "name": "PDR", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "13207", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13207" } ] }, { "disease_id": "DOID:13223", "recommended_name": { "id": "DOID:13223", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13223", "name": "uterine fibroid", "description": "An uterine benign neoplasm derived from the smooth muscle layer of the 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It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "body of uterus fibroid", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "body of uterus leiomyoma", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "corpus uteri fibroid", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "corpus uteri leiomyoma", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "fibroid of body of uterus", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "fibroid of corpus uteri", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "fibroid of the body of uterus", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "fibroid of the corpus uteri", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "fibroid of the uterine body", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "fibroid of the uterine corpus", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "fibroid of uterine body", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "fibroid of uterine corpus", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "leiomyoma of body of uterus", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "leiomyoma of corpus uteri", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "leiomyoma of the body of uterus", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "leiomyoma of the corpus uteri", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "leiomyoma of the uterine body", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "leiomyoma of the uterine corpus", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "leiomyoma of uterine body", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "leiomyoma of uterine corpus", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "uterine body fibroid", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "uterine body leiomyoma", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "uterine corpus fibroid", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "uterine corpus leiomyoma", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "uterine corpus leiomyomata", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "uterine fibroid", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "UL", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "leiomyoma, uterine", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "uterine leiomyoma", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "uterus fibroma", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "13223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13223" } ] }, { "disease_id": "DOID:13374", "recommended_name": { "id": "DOID:13374", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13374", "name": "fibrodysplasia ossificans progressiva", "description": "A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene." }, "synonyms": [ { "id": "DOID:13374", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13374", "name": "Stone Man Syndrome", "description": "" }, { "id": "DOID:13374", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13374", "name": "myositis ossificans progressiva", "description": "" }, { "id": "DOID:13374", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13374", "name": "progressive myositis ossificans", "description": "" }, { "id": "DOID:13374", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13374", "name": "progressive ossifying myositis", "description": "" }, { "id": "MONDO:0007606", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007606", "name": "fibrodysplasia ossificans progressiva", "description": "Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites." }, { "id": "MONDO:0007606", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007606", "name": "FOP", "description": "" }, { "id": "MONDO:0007606", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007606", "name": "Stone Man syndrome", "description": "" }, { "id": "MONDO:0007606", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007606", "name": "Stone man syndrome", "description": "" }, { "id": "MONDO:0007606", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007606", "name": "fibrodysplasia ossificans progressiva", "description": "" }, { "id": "MONDO:0007606", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007606", "name": "fop", "description": "" }, { "id": "MONDO:0007606", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007606", "name": "progressive myositis ossificans", "description": "" }, { "id": "MIM:135100", "resource": "MIM", "url": "https://www.omim.org/entry/135100", "name": "Fibrodysplasia ossificans progressiva", "description": "Fibrodysplasia ossificans progressiva" } ], "unlinked_id_list": [], "evidence": [ { "id": "13374", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13374" } ] }, { "disease_id": "DOID:13515", "recommended_name": { "id": "DOID:13515", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13515", "name": "tuberous sclerosis", "description": "A hamartoma syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body." }, "synonyms": [ { "id": "DOID:13515", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13515", "name": "Bourneville's disease", "description": "" }, { "id": "DOID:13515", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13515", "name": "Epiloia", "description": "" }, { "id": "DOID:13515", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13515", "name": "Tuberose sclerosis", "description": "" }, { "id": "DOID:13515", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13515", "name": "Tuberous sclerosis syndrome", "description": "" }, { "id": "DOID:13515", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13515", "name": "cerebral sclerosis", "description": "" }, { "id": "DOID:13515", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13515", "name": "Tuberous sclerosis complex", "description": "" }, { "id": "MONDO:0008612", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008612", "name": "tuberous sclerosis 1", "description": "An autosomal dominant syndrome caused by pathogenic variants in the TSC1 gene, characterized by the growth of hamartomas in multiple organs, including the brain, skin, kidneys, heart, and lungs. Other clinical features include seizures, intellectual disability, and skin lesions." }, { "id": "MONDO:0008612", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008612", "name": "TSC1 tuberous sclerosis", "description": "" }, { "id": "MONDO:0008612", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008612", "name": "TSC1-related tuberous sclerosis", "description": "" }, { "id": "MONDO:0008612", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008612", "name": "tuberous sclerosis 1", "description": "" }, { "id": "MONDO:0008612", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008612", "name": "tuberous sclerosis caused by mutation in TSC1", "description": "" }, { "id": "MONDO:0008612", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008612", "name": "tuberous sclerosis type 1", "description": "" }, { "id": "MONDO:0008612", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008612", "name": "tuberous sclerosis-1", "description": "" }, { "id": "MONDO:0008612", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008612", "name": "TSC1", "description": "" }, { "id": "MONDO:0008612", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008612", "name": "tuberous sclerosis, type 1", "description": "" }, { "id": "MIM:191100", "resource": "MIM", "url": "https://www.omim.org/entry/191100", "name": "Tuberous sclerosis 1", "description": "Tuberous sclerosis 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "13515", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13515" } ] }, { "disease_id": "DOID:13976", "recommended_name": { "id": "DOID:13976", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13976", "name": "peptic esophagitis", "description": "" }, "synonyms": [ { "id": "DOID:13976", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13976", "name": "Peptic reflux disease", "description": "" }, { "id": "DOID:13976", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13976", "name": "Reflux oesophagitis", "description": "" }, { "id": "DOID:13976", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13976", "name": "reflux esophagitis", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "13976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13976" } ] }, { "disease_id": "DOID:14004", "recommended_name": { "id": "DOID:14004", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14004", "name": "thoracic aortic aneurysm", "description": "An aortic aneurysm that is located_in the thoracic aorta." }, "synonyms": [ { "id": "MONDO:0007568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007568", "name": "aortic aneurysm, familial thoracic 4", "description": "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MYH11 gene." }, { "id": "MONDO:0007568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007568", "name": "MYH11 familial thoracic aortic aneurysm and aortic dissection", "description": "" }, { "id": "MONDO:0007568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007568", "name": "aortic aneurysm, familial thoracic 4", "description": "" }, { "id": "MONDO:0007568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007568", "name": "aortic aneurysm, familial thoracic type 4", "description": "" }, { "id": "MONDO:0007568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007568", "name": "familial thoracic aortic aneurysm and aortic dissection caused by mutation in MYH11", "description": "" }, { "id": "MONDO:0007568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007568", "name": "AAT4", "description": "" }, { "id": "MONDO:0007568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007568", "name": "FAA4", "description": "" }, { "id": "MONDO:0011770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011770", "name": "aortic aneurysm, familial thoracic 2", "description": "" }, { "id": "MONDO:0011770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011770", "name": "aortic aneurysm, familial thoracic 2", "description": "" }, { "id": "MONDO:0011770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011770", "name": "AAT2", "description": "" }, { "id": "MONDO:0011770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011770", "name": "FAA2", "description": "" }, { "id": "MONDO:0012730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012730", "name": "aortic aneurysm, familial thoracic 6", "description": "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene." }, { "id": "MONDO:0012730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012730", "name": "ACTA2 familial thoracic aortic aneurysm and aortic dissection", "description": "" }, { "id": "MONDO:0012730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012730", "name": "aortic aneurysm, familial thoracic 6", "description": "" }, { "id": "MONDO:0012730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012730", "name": "aortic aneurysm, familial thoracic type 6", "description": "" }, { "id": "MONDO:0012730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012730", "name": "familial thoracic aortic aneurysm and aortic dissection caused by mutation in ACTA2", "description": "" }, { "id": "MONDO:0012730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012730", "name": "AAT6", "description": "" }, { "id": "MONDO:0013418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013418", "name": "aortic aneurysm, familial thoracic 7", "description": "" }, { "id": "MONDO:0013418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013418", "name": "aortic aneurysm, familial thoracic 7", "description": "" }, { "id": "MONDO:0013418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013418", "name": "aortic aneurysm, familial thoracic type 7", "description": "" }, { "id": "MONDO:0013418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013418", "name": "AAT7", "description": "" }, { "id": "MONDO:0014187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014187", "name": "aortic aneurysm, familial thoracic 8", "description": "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the PRKG1 gene." }, { "id": "MONDO:0014187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014187", "name": "PRKG1 familial thoracic aortic aneurysm and aortic dissection", "description": "" }, { "id": "MONDO:0014187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014187", "name": "aortic aneurysm, familial thoracic 8", "description": "" }, { "id": "MONDO:0014187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014187", "name": "aortic aneurysm, familial thoracic type 8", "description": "" }, { "id": "MONDO:0014187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014187", "name": "familial thoracic aortic aneurysm and aortic dissection caused by mutation in PRKG1", "description": "" }, { "id": "MONDO:0014187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014187", "name": "AAT8", "description": "" }, { "id": "MONDO:0024559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024559", "name": "aortic aneurysm, familial thoracic 1", "description": "" }, { "id": "MONDO:0024559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024559", "name": "AAT1", "description": "" }, { "id": "MONDO:0024559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024559", "name": "FAA1", "description": "" }, { "id": "MIM:132900", "resource": "MIM", "url": "https://www.omim.org/entry/132900", "name": "Aortic aneurysm, familial thoracic 4", "description": "Aortic aneurysm, familial thoracic 4" }, { "id": "MIM:611788", "resource": "MIM", "url": "https://www.omim.org/entry/611788", "name": "Aortic aneurysm, familial thoracic 6", "description": "Aortic aneurysm, familial thoracic 6" }, { "id": "MIM:613780", "resource": "MIM", "url": "https://www.omim.org/entry/613780", "name": "Aortic aneurysm, familial thoracic 7", "description": "Aortic aneurysm, familial thoracic 7" }, { "id": "MIM:615436", "resource": "MIM", "url": "https://www.omim.org/entry/615436", "name": "Aortic aneurysm, familial thoracic 8", "description": "Aortic aneurysm, familial thoracic 8" } ], "unlinked_id_list": [], "evidence": [ { "id": "14004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14004" } ] }, { "disease_id": "DOID:14323", "recommended_name": { "id": "DOID:14323", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14323", "name": "Marfan syndrome", "description": "A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens." }, "synonyms": [ { "id": "DOID:14323", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14323", "name": "Marfan's syndrome", "description": "" }, { "id": "MONDO:0007947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007947", "name": "Marfan syndrome", "description": "A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person." }, { "id": "MONDO:0007947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007947", "name": "MFS", "description": "" }, { "id": "MONDO:0007947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007947", "name": "MFS1", "description": "" }, { "id": "MONDO:0007947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007947", "name": "Marfan syndrome", "description": "" }, { "id": "MONDO:0007947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007947", "name": "Marfan syndrome type 1", "description": "" }, { "id": "MONDO:0007947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007947", "name": "Marfan syndrome, type 1", "description": "" }, { "id": "MONDO:0007947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007947", "name": "Marfan's syndrome", "description": "" }, { "id": "MIM:154700", "resource": "MIM", "url": "https://www.omim.org/entry/154700", "name": "Marfan syndrome", "description": "Marfan syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14323", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14323" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:18", "recommended_name": { "id": "DOID:18", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:18", "name": "urinary system disease", "description": "A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra." }, "synonyms": [ { "id": "DOID:18", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:18", "name": "Non-neoplastic urinary tract disease", "description": "" }, { "id": "DOID:18", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:18", "name": "urinary tract disease", "description": "" } ], "unlinked_id_list": [ "DOID:0081055", "DOID:3116", "DOID:732", "DOID:13138", "DOID:3675", "DOID:9590", "DOID:4455", "DOID:0080616", "DOID:2744", "DOID:9808", "DOID:731", "DOID:582", "DOID:1426" ], "evidence": [ { "id": "18", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:18" } ] }, { "disease_id": "DOID:182", "recommended_name": { "id": "DOID:182", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:182", "name": "calcinosis", "description": "A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue." }, "synonyms": [ { "id": "DOID:182", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:182", "name": "Pathologically calcified structure", "description": "" }, { "id": "DOID:182", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:182", "name": "pathologic calcification", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:182" } ] }, { "disease_id": "DOID:1826", "recommended_name": { "id": "DOID:1826", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions." }, "synonyms": [ { "id": "DOID:1826", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1826", "name": "epilepsy syndrome", "description": "" }, { "id": "DOID:1826", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1826", "name": "epileptic syndrome", "description": "" } ], "unlinked_id_list": [ "DOID:3331", "DOID:0050702", "DOID:0060172", "DOID:0050706", "DOID:0050705", "DOID:0050703", "DOID:0050701", "DOID:0060169" ], "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ] }, { "disease_id": "DOID:1882", "recommended_name": { "id": "DOID:1882", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1882", "name": "atrial heart septal defect", "description": "A heart septal defect located_in in the septum that separates the two atria of the heart." }, "synonyms": [ { "id": "DOID:1882", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1882", "name": "atrial septal defect", "description": "" }, { "id": "DOID:1882", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1882", "name": "atrioseptal defect", "description": "" }, { "id": "DOID:1882", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1882", "name": "auricular septal defect", "description": "" }, { "id": "DOID:1882", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1882", "name": "congenital atrial septal defect", "description": "" }, { "id": "DOID:1882", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1882", "name": "interatrial septal defect", "description": "" }, { "id": "DOID:1882", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1882", "name": "interauricular septal defect", "description": "" }, { "id": "MONDO:0007172", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007172", "name": "atrial septal defect 1", "description": "An atrial heart septal defect type 1 associated with variation in the region 5p." }, { "id": "MONDO:0007172", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007172", "name": "ASD1", "description": "" }, { "id": "MONDO:0007172", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007172", "name": "atrial heart septal defect type 1", "description": "" }, { "id": "MONDO:0007172", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007172", "name": "atrial septal defect 1", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "1882", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1882" } ] }, { "disease_id": "DOID:1909", "recommended_name": { "id": "DOID:1909", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye." }, "synonyms": [ { "id": "DOID:1909", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1909", "name": "Naevocarcinoma", "description": "" }, { "id": "DOID:1909", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1909", "name": "malignant melanoma", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ] }, { "disease_id": "DOID:2033", "recommended_name": { "id": "DOID:2033", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2033", "name": "communication disorder", "description": "A specific developmental disorder that involves specific developmental disorders of speech and language." }, "synonyms": [], "unlinked_id_list": [ "DOID:4090", "DOID:92" ], "evidence": [ { "id": "2033", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2033" } ] }, { "disease_id": "DOID:219", "recommended_name": { "id": "DOID:219", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon." }, "synonyms": [], "unlinked_id_list": [], "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ] }, { "disease_id": "DOID:3827", "recommended_name": { "id": "DOID:3827", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3827", "name": "congenital diaphragmatic hernia", "description": "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs." }, "synonyms": [ { "id": "DOID:3827", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3827", "name": "Diaphragmatic Hernia", "description": "" }, { "id": "MONDO:0007719", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007719", "name": "diaphragmatic hernia 1", "description": "" }, { "id": "MONDO:0007719", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007719", "name": "diaphragmatic hernia, congenital 1", "description": "" }, { "id": "MONDO:0007719", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007719", "name": "hernia, congenital diaphragmatic 1", "description": "" }, { "id": "MONDO:0007719", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007719", "name": "DIH1", "description": "" }, { "id": "MONDO:0009103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009103", "name": "diaphragmatic hernia 2", "description": "" }, { "id": "MONDO:0009103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009103", "name": "diaphragmatic hernia 2", "description": "" }, { "id": "MONDO:0009103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009103", "name": "hernia, congenital diaphragmatic 2", "description": "" }, { "id": "MONDO:0009103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009103", "name": "DIH2", "description": "" }, { "id": "MONDO:0012431", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012431", "name": "diaphragmatic hernia 3", "description": "Any congenital diaphragmatic hernia in which the cause of the disease is a mutation in the ZFPM2 gene." }, { "id": "MONDO:0012431", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012431", "name": "ZFPM2 congenital diaphragmatic hernia", "description": "" }, { "id": "MONDO:0012431", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012431", "name": "congenital diaphragmatic hernia caused by mutation in ZFPM2", "description": "" }, { "id": "MONDO:0012431", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012431", "name": "diaphragmatic hernia 3", "description": "" }, { "id": "MONDO:0012431", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012431", "name": "diaphragmatic hernia type 3", "description": "" }, { "id": "MONDO:0012431", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012431", "name": "DIH3", "description": "" }, { "id": "MIM:610187", "resource": "MIM", "url": "https://www.omim.org/entry/610187", "name": "Diaphragmatic hernia 3", "description": "Diaphragmatic hernia 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "3827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3827" } ] }, { "disease_id": "DOID:4448", "recommended_name": { "id": "DOID:4448", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss." }, "synonyms": [ { "id": "DOID:4448", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4448", "name": "Macular degeneration of retina", "description": "" } ], "unlinked_id_list": [ "DOID:2007", "DOID:0070438" ], "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ] }, { "disease_id": "DOID:4450", "recommended_name": { "id": "DOID:4450", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney." }, "synonyms": [ { "id": "DOID:4450", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4450", "name": "RCC", "description": "" }, { "id": "DOID:4450", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4450", "name": "adenocarcinoma of kidney", "description": "" }, { "id": "DOID:4450", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4450", "name": "hypernephroma", "description": "" }, { "id": "MONDO:0010456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010456", "name": "renal cell carcinoma, Xp11-associated", "description": "" }, { "id": "MONDO:0010456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010456", "name": "renal cell carcinoma, Xp11-associated", "description": "" }, { "id": "MONDO:0010456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010456", "name": "renal cell carcinoma, papillary, 1", "description": "" }, { "id": "MONDO:0010456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010456", "name": "RCCX1", "description": "" }, { "id": "MIM:300854", "resource": "MIM", "url": "https://www.omim.org/entry/300854", "name": "Renal cell carcinoma Xp11-associated", "description": "Renal cell carcinoma Xp11-associated" } ], "unlinked_id_list": [ "DOID:4455" ], "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ] }, { "disease_id": "DOID:5394", "recommended_name": { "id": "DOID:5394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5394", "name": "prolactinoma", "description": "" }, "synonyms": [ { "id": "DOID:5394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5394", "name": "PITUITARY ADENOMA, PROLACTIN-SECRETING", "description": "" }, { "id": "DOID:5394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5394", "name": "Prolactinoma of Pituitary gland", "description": "" }, { "id": "DOID:5394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5394", "name": "familial prolactinoma", "description": "" }, { "id": "MONDO:0010911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010911", "name": "prolactin-producing pituitary gland adenoma", "description": "Prolactinoma is a usually benign neoplasm of the pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men." }, { "id": "MONDO:0010911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010911", "name": "PRL producing pituitary gland adenoma", "description": "" }, { "id": "MONDO:0010911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010911", "name": "PRL-secreting pituitary adenoma", "description": "" }, { "id": "MONDO:0010911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010911", "name": "PRLoma", "description": "" }, { "id": "MONDO:0010911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010911", "name": "lactotrope adenoma", "description": "" }, { "id": "MONDO:0010911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010911", "name": "lactotroph adenoma", "description": "" }, { "id": "MONDO:0010911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010911", "name": "lactotroph cell adenoma", "description": "" }, { "id": "MONDO:0010911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010911", "name": "pituitary gland prolactinoma", "description": "" }, { "id": "MONDO:0010911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010911", "name": "pituitary lactotrophic adenoma", "description": "" }, { "id": "MONDO:0010911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010911", "name": "pituitary prolactinoma", "description": "" }, { "id": "MONDO:0010911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010911", "name": "prolactin producing adenoma of pituitary", "description": "" }, { "id": "MONDO:0010911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010911", "name": "prolactin producing adenoma of pituitary gland", "description": "" }, { "id": "MONDO:0010911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010911", "name": "prolactin producing adenoma of the pituitary", "description": "" }, { "id": "MONDO:0010911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010911", "name": "prolactin producing adenoma of the pituitary gland", "description": "" }, { "id": "MONDO:0010911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010911", "name": "prolactin producing pituitary adenoma", "description": "" }, { "id": "MONDO:0010911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010911", "name": "prolactin producing pituitary gland adenoma", "description": "" }, { "id": "MONDO:0010911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010911", "name": "prolactin secreting adenoma", "description": "" }, { "id": "MONDO:0010911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010911", "name": "prolactin secreting adenoma of pituitary", "description": "" }, { "id": "MONDO:0010911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010911", "name": "prolactin secreting adenoma of pituitary gland", "description": "" }, { "id": "MONDO:0010911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010911", "name": "prolactin secreting adenoma of the pituitary", "description": "" }, { "id": "MONDO:0010911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010911", "name": "prolactin secreting adenoma of the pituitary gland", "description": "" }, { "id": "MONDO:0010911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010911", "name": "prolactin secreting pituitary adenoma", "description": "" }, { "id": "MONDO:0010911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010911", "name": "prolactin secreting pituitary gland adenoma", "description": "" }, { "id": "MONDO:0010911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010911", "name": "prolactin-producing pituitary gland adenoma", "description": "" }, { "id": "MONDO:0010911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010911", "name": "prolactin-secreting pituitary adenoma", "description": "" }, { "id": "MONDO:0010911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010911", "name": "prolactinoma", "description": "" }, { "id": "MONDO:0010911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010911", "name": "prolactinoma of pituitary", "description": "" }, { "id": "MONDO:0010911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010911", "name": "prolactinoma of pituitary gland", "description": "" }, { "id": "MONDO:0010911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010911", "name": "prolactinoma of the pituitary", "description": "" }, { "id": "MONDO:0010911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010911", "name": "prolactinoma of the pituitary gland", "description": "" }, { "id": "MONDO:0010911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010911", "name": "Forbes-Albright syndrome (formerly)", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "5394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5394" } ] }, { "disease_id": "DOID:540", "recommended_name": { "id": "DOID:540", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:540", "name": "strabismus", "description": "A hyperopia that is characterized by eyes that do not properly align with each other when looking at an object." }, "synonyms": [], "unlinked_id_list": [], "evidence": [ { "id": "540", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:540" } ] }, { "disease_id": "DOID:5844", "recommended_name": { "id": "DOID:5844", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia." }, "synonyms": [ { "id": "DOID:5844", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5844", "name": "Myocardial infarct", "description": "" }, { "id": "DOID:5844", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5844", "name": "heart attack", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "myocardial infarction, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "myocardial infarction, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "myocardial infarction, susceptibility to, type 2", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ] }, { "disease_id": "DOID:668", "recommended_name": { "id": "DOID:668", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:668", "name": "myositis ossificans", "description": "A myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles." }, "synonyms": [ { "id": "DOID:668", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:668", "name": "Myisitis ossificans", "description": "" }, { "id": "DOID:668", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:668", "name": "Ossification - muscle", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "668", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:668" } ] }, { "disease_id": "DOID:784", "recommended_name": { "id": "DOID:784", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:784", "name": "chronic kidney disease", "description": "A kidney failure that is characterized by the gradual loss of kidney function, present for a minimum of 3 months. CKD is classified based on cause, glomerular filtration rate (GFR) category (G2-G5), and albuminuria category (A1-A3)." }, "synonyms": [ { "id": "DOID:784", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:784", "name": "CKD", "description": "" }, { "id": "DOID:784", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:784", "name": "CRF", "description": "" }, { "id": "DOID:784", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:784", "name": "chronic kidney failure", "description": "" }, { "id": "DOID:784", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:784", "name": "chronic renal disease", "description": "" }, { "id": "DOID:784", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:784", "name": "chronic renal failure syndrome", "description": "" }, { "id": "DOID:784", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:784", "name": "renal failure - chronic", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:784" } ] }, { "disease_id": "DOID:8577", "recommended_name": { "id": "DOID:8577", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores." }, "synonyms": [ { "id": "DOID:8577", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:8577", "name": "Left-sided ulcerative colitis", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ] }, { "disease_id": "DOID:8778", "recommended_name": { "id": "DOID:8778", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine." }, "synonyms": [ { "id": "DOID:8778", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:8778", "name": "Crohn disease", "description": "" }, { "id": "DOID:8778", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:8778", "name": "Crohn's disease of colon", "description": "" }, { "id": "DOID:8778", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:8778", "name": "Crohn's disease of large bowel", "description": "" }, { "id": "DOID:8778", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:8778", "name": "Granulomatous Colitis", "description": "" }, { "id": "DOID:8778", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:8778", "name": "Pediatric Crohn's disease", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ] }, { "disease_id": "DOID:9206", "recommended_name": { "id": "DOID:9206", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9206", "name": "Barrett's esophagus", "description": "An esophageal disease characterized by a change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium." }, "synonyms": [ { "id": "DOID:9206", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9206", "name": "Barrett esophagus", "description": "" }, { "id": "DOID:9206", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9206", "name": "Barrett's esophagus with esophagitis", "description": "" }, { "id": "DOID:9206", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9206", "name": "Barrett's oesophagus", "description": "" }, { "id": "DOID:9206", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9206", "name": "Barrett's ulcer of esophagus", "description": "" }, { "id": "DOID:9206", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9206", "name": "Barretts syndrome", "description": "" }, { "id": "DOID:9206", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9206", "name": "ulcerative esophagitis", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett esophagus", "description": "Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO)" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "BE", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett esophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett esophagus/esophageal adenocarcinoma", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett's esophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett's oesophagus with esophagitis", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "Barrett's ulcer of oesophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "CELLO", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "CLE", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "cello", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "columnar epithelial-lined Lower esophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "columnar epithelial-lined Lower oesophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "columnar-lined esophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "columnar-lined oesophagus", "description": "" }, { "id": "MONDO:0013662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013662", "name": "adenocarcinoma of oesophagus", "description": "" }, { "id": "MIM:614266", "resource": "MIM", "url": "https://www.omim.org/entry/614266", "name": "Barrett esophagus", "description": "Barrett esophagus" } ], "unlinked_id_list": [], "evidence": [ { "id": "9206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9206" }, { "id": "9206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9206" }, { "id": "9206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9206" } ] }, { "disease_id": "DOID:9296", "recommended_name": { "id": "DOID:9296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9296", "name": "cleft lip", "description": "An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences." }, "synonyms": [ { "id": "DOID:9296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9296", "name": "Labium leporinum", "description": "" }, { "id": "DOID:9296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9296", "name": "cheiloschisis", "description": "" }, { "id": "DOID:9296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9296", "name": "cleft lip, unilateral, complete", "description": "" }, { "id": "DOID:9296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9296", "name": "complete unilateral cleft lip", "description": "" }, { "id": "DOID:9296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9296", "name": "hare lip", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "9296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9296" } ] }, { "disease_id": "DOID:9884", "recommended_name": { "id": "DOID:9884", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9884", "name": "muscular dystrophy", "description": "A myopathy is characterized by progressive skeletal muscle weakness degeneration." }, "synonyms": [ { "id": "MONDO:0008028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008028", "name": "muscular dystrophy, Barnes type", "description": "" }, { "id": "MONDO:0008028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008028", "name": "muscular dystrophy, Barnes type", "description": "" }, { "id": "MONDO:0008034", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008034", "name": "muscular dystrophy, pseudohypertrophic, with Internalized capillaries", "description": "" }, { "id": "MONDO:0008034", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008034", "name": "muscular dystrophy, pseudohypertrophic, with Internalized capillaries", "description": "" }, { "id": "MONDO:0010675", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010675", "name": "muscular dystrophy, cardiac type", "description": "" }, { "id": "MONDO:0010675", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010675", "name": "muscular dystrophy, cardiac type", "description": "" }, { "id": "MONDO:0010676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010676", "name": "muscular dystrophy, Hemizygous lethal type", "description": "" }, { "id": "MONDO:0010676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010676", "name": "muscular dystrophy, Hemizygous lethal type", "description": "" }, { "id": "MONDO:0010677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010677", "name": "muscular dystrophy, Mabry type", "description": "" }, { "id": "MONDO:0010677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010677", "name": "muscular dystrophy, Mabry type", "description": "" }, { "id": "MONDO:0010678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010678", "name": "muscular dystrophy, progressive Pectorodorsal", "description": "" }, { "id": "MONDO:0010678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010678", "name": "muscular dystrophy, progressive Pectorodorsal", "description": "" }, { "id": "MONDO:0010884", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010884", "name": "muscular dystrophy, scapulohumeral", "description": "" }, { "id": "MONDO:0010884", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010884", "name": "muscular dystrophy, scapulohumeral", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "9884", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9884" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "80.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163359" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "91.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163359" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "97.7", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163359" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "99.57", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163359" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "99.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163359" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "95.24", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163359" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "98.24", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163359" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "98.7", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163359" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "94.73", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163359" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "98.86", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163359" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "87.39", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163359" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "94.68", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163359" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "97.9", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163359" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P12111", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12111" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P12111", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12111" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P12111", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12111" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://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 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"https://www.alliancegenome.org/disease/DOID:11054" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P12111", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12111" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P12111", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12111" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "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: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: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": 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"Reactome", "categories": [ "Enzyme and Pathway" ] }, { "id": "R-HSA-8948216", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8948216", "database": "Reactome", "categories": [ "Enzyme and Pathway" ] }, { "id": "NP_004360", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004360", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040", "database": "UniCarbKB", "categories": [] }, { "id": "A0A804HKC7", "url": "https://www.uniprot.org/uniprotkb/A0A804HKC7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HKC7-1", "url": "https://www.uniprot.org/uniprotkb/A0A804HKC7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HKQ0", "url": "https://www.uniprot.org/uniprotkb/A0A804HKQ0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HKQ0-1", "url": "https://www.uniprot.org/uniprotkb/A0A804HKQ0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HKS9", "url": "https://www.uniprot.org/uniprotkb/A0A804HKS9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HKS9-1", "url": "https://www.uniprot.org/uniprotkb/A0A804HKS9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JNG9", "url": "https://www.uniprot.org/uniprotkb/C9JNG9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JNG9-1", "url": "https://www.uniprot.org/uniprotkb/C9JNG9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7ENL6", "url": "https://www.uniprot.org/uniprotkb/E7ENL6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7ENL6-1", "url": "https://www.uniprot.org/uniprotkb/E7ENL6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12111", "url": "https://www.uniprot.org/uniprotkb/P12111", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12111-1", "url": "https://www.uniprot.org/uniprotkb/P12111-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12111-2", "url": "https://www.uniprot.org/uniprotkb/P12111-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12111-3", "url": "https://www.uniprot.org/uniprotkb/P12111-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12111-4", "url": "https://www.uniprot.org/uniprotkb/P12111-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12111-5", "url": "https://www.uniprot.org/uniprotkb/P12111-5", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MRKHRHLPLVAVFCLFLSGFPTTHAQQQQADVKNGAAADIIFLVDSSWTIGEEHFQLVREFLYDVVKSLAVGENDFHFALVQFNGNPHTEFLLNTYRTKQEVLSHISNMSYIGGTNQTGKGLEYIMQSHLTKAAGSRAGDGVPQVIVVLTDGHSKDGLALPSAELKSADVNVFAIGVEDADEGALKEIASEPLNMHMFNLENFTSLHDIVGNLVSCVHSSVSPERAGDTETLKDITAQDSADIIFLIDGSNNTGSVNFAVILDFLVNLLEKLPIGTQQIRVGVVQFSDEPRTMFSLDTYSTKAQVLGAVKALGFAGGELANIGLALDFVVENHFTRAGGSRVEEGVPQVLVLISAGPSSDEIRYGVVALKQASVFSFGLGAQAASRAELQHIATDDNLVFTVPEFRSFGDLQEKLLPYIVGVAQRHIVLKPPTIVTQVIEVNKRDIVFLVDGSSALGLANFNAIRDFIAKVIQRLEIGQDLIQVAVAQYADTVRPEFYFNTHPTKREVITAVRKMKPLDGSALYTGSALDFVRNNLFTSSAGYRAAEGIPKLLVLITGGKSLDEISQPAQELKRSSIMAFAIGNKGADQAELEEIAFDSSLVFIPAEFRAAPLQGMLPGLLAPLRTLSGTPEVHSNKRDIIFLLDGSANVGKTNFPYVRDFVMNLVNSLDIGNDNIRVGLVQFSDTPVTEFSLNTYQTKSDILGHLRQLQLQGGSGLNTGSALSYVYANHFTEAGGSRIREHVPQLLLLLTAGQSEDSYLQAANALTRAGILTFCVGASQANKAELEQIAFNPSLVYLMDDFSSLPALPQQLIQPLTTYVSGGVEEVPLAQPESKRDILFLFDGSANLVGQFPVVRDFLYKIIDELNVKPEGTRIAVAQYSDDVKVESRFDEHQSKPEILNLVKRMKIKTGKALNLGYALDYAQRYIFVKSAGSRIEDGVLQFLVLLVAGRSSDRVDGPASNLKQSGVVPFIFQAKNADPAELEQIVLSPAFILAAESLPKIGDLHPQIVNLLKSVHNGAPAPVSGEKDVVFLLDGSEGVRSGFPLLKEFVQRVVESLDVGQDRVRVAVVQYSDRTRPEFYLNSYMNKQDVVNAVRQLTLLGGPTPNTGAALEFVLRNILVSSAGSRITEGVPQLLIVLTADRSGDDVRNPSVVVKRGGAVPIGIGIGNADITEMQTISFIPDFAVAIPTFRQLGTVQQVISERVTQLTREELSRLQPVLQPLPSPGVGGKRDVVFLIDGSQSAGPEFQYVRTLIERLVDYLDVGFDTTRVAVIQFSDDPKVEFLLNAHSSKDEVQNAVQRLRPKGGRQINVGNALEYVSRNIFKRPLGSRIEEGVPQFLVLISSGKSDDEVDDPAVELKQFGVAPFTIARNADQEELVKISLSPEYVFSVSTFRELPSLEQKLLTPITTLTSEQIQKLLASTRYPPPAVESDAADIVFLIDSSEGVRPDGFAHIRDFVSRIVRRLNIGPSKVRVGVVQFSNDVFPEFYLKTYRSQAPVLDAIRRLRLRGGSPLNTGKALEFVARNLFVKSAGSRIEDGVPQHLVLVLGGKSQDDVSRFAQVIRSSGIVSLGVGDRNIDRTELQTITNDPRLVFTVREFRELPNIEERIMNSFGPSAATPAPPGVDTPPPSRPEKKKADIVFLLDGSINFRRDSFQEVLRFVSEIVDTVYEDGDSIQVGLVQYNSDPTDEFFLKDFSTKRQIIDAINKVVYKGGRHANTKVGLEHLRVNHFVPEAGSRLDQRVPQIAFVITGGKSVEDAQDVSLALTQRGVKVFAVGVRNIDSEEVGKIASNSATAFRVGNVQELSELSEQVLETLHDAMHETLCPGVTDAAKACNLDVILGFDGSRDQNVFVAQKGFESKVDAILNRISQMHRVSCSGGRSPTVRVSVVANTPSGPVEAFDFDEYQPEMLEKFRNMRSQHPYVLTEDTLKVYLNKFRQSSPDSVKVVIHFTDGADGDLADLHRASENLRQEGVRALILVGLERVVNLERLMHLEFGRGFMYDRPLRLNLLDLDYELAEQLDNIAEKACCGVPCKCSGQRGDRGPIGSIGPKGIPGEDGYRGYPGDEGGPGERGPPGVNGTQGFQGCPGQRGVKGSRGFPGEKGEVGEIGLDGLDGEDGDKGLPGSSGEKGNPGRRGDKGPRGEKGERGDVGIRGDPGNPGQDSQERGPKGETGDLGPMGVPGRDGVPGGPGETGKNGGFGRRGPPGAKGNKGGPGQPGFEGEQGTRGAQGPAGPAGPPGLIGEQGISGPRGSGGAAGAPGERGRTGPLGRKGEPGEPGPKGGIGNRGPRGETGDDGRDGVGSEGRRGKKGERGFPGYPGPKGNPGEPGLNGTTGPKGIRGRRGNSGPPGIVGQKGDPGYPGPAGPKGNRGDSIDQCALIQSIKDKCPCCYGPLECPVFPTELAFALDTSEGVNQDTFGRMRDVVLSIVNDLTIAESNCPRGARVAVVTYNNEVTTEIRFADSKRKSVLLDKIKNLQVALTSKQQSLETAMSFVARNTFKRVRNGFLMRKVAVFFSNTPTRASPQLREAVLKLSDAGITPLFLTRQEDRQLINALQINNTAVGHALVLPAGRDLTDFLENVLTCHVCLDICNIDPSCGFGSWRPSFRDRRAAGSDVDIDMAFILDSAETTTLFQFNEMKKYIAYLVRQLDMSPDPKASQHFARVAVVQHAPSESVDNASMPPVKVEFSLTDYGSKEKLVDFLSRGMTQLQGTRALGSAIEYTIENVFESAPNPRDLKIVVLMLTGEVPEQQLEEAQRVILQAKCKGYFFVVLGIGRKVNIKEVYTFASEPNDVFFKLVDKSTELNEEPLMRFGRLLPSFVSSENAFYLSPDIRKQCDWFQGDQPTKNLVKFGHKQVNVPNNVTSSPTSNPVTTTKPVTTTKPVTTTTKPVTTTTKPVTIINQPSVKPAAAKPAPAKPVAAKPVATKMATVRPPVAVKPATAAKPVAAKPAAVRPPAAAAAKPVATKPEVPRPQAAKPAATKPATTKPMVKMSREVQVFEITENSAKLHWERAEPPGPYFYDLTVTSAHDQSLVLKQNLTVTDRVIGGLLAGQTYHVAVVCYLRSQVRATYHGSFSTKKSQPPPPQPARSASSSTINLMVSTEPLALTETDICKLPKDEGTCRDFILKWYYDPNTKSCARFWYGGCGGNENKFGSQKECEKVCAPVLAKPGVISVMGT", "length": 3177, "header": "sp|P12111-1|CO6A3_HUMAN Isoform 1 of Collagen alpha-3(VI) chain OS=Homo sapiens OX=9606 GN=COL6A3 PE=1 SV=5 CANONICAL=P12111-1" }, "isoforms": [ { "isoform_ac": "A0A804HKC7-1", "url": "https://www.uniprot.org/uniprotkb/P12111/entry#A0A804HKC7-1", "sequence": { "sequence": "XVQHAPSESVDNASMPPVKVEFSLTDYGSKEKLVDFLSRGMTQLQGTRALGSAIEYTIENVFESAPNPRDLKIVVLMLTGEVPEQQLEEAQRVILQAKCKGYFFVVLGIGRKVNIKEVYTFASEPNDVFFKLVDKSTELNEEPLMRFGRLLPSFVSSENAFYLSPDIRKQCDWFQGDQPTKNLVKFGHKQVDRVLLCCPGWTAVVQSWLTVTSASWIQAILMLQPPE", "length": 227, "header": "tr|A0A804HKC7-1|A0A804HKC7_HUMAN Computationally mapped isoform of Collagen type VI alpha 3 chain OS=Homo sapiens OX=9606 GN=COL6A3 PE=1 SV=1 CANONICAL=P12111-1" }, "locus": { "chromosome": "2", "start_pos": 237340918, "end_pos": 237338656, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000682957.1", "url": "https://www.ensembl.org/id/ENST00000682957.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000507870.1", "url": "https://www.ensembl.org/id/ENSP00000507870.1" } ] } }, { "isoform_ac": "A0A804HKQ0-1", "url": "https://www.uniprot.org/uniprotkb/P12111/entry#A0A804HKQ0-1", "sequence": { "sequence": "XVSTFRELPSLEQKLLTPITTLTSEQIQKLLASTRYPPPVREFRELPNIEERIMNSFGPSAATPAPPGVDTPPPSRPEKKKADIVFLLDGSINFRRDSFQEVLRFVSEIVDTVYEDGDSIQVGLVQYNSDPTDEFFLK", "length": 138, "header": "tr|A0A804HKQ0-1|A0A804HKQ0_HUMAN Computationally mapped isoform of Collagen type VI alpha 3 chain OS=Homo sapiens OX=9606 GN=COL6A3 PE=1 SV=3 CANONICAL=P12111-1" }, "locus": { "chromosome": "2", "start_pos": 237371847, "end_pos": 237367103, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000684597.1", "url": "https://www.ensembl.org/id/ENST00000684597.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508021.1", "url": "https://www.ensembl.org/id/ENSP00000508021.1" } ] } }, { "isoform_ac": "A0A804HKS9-1", "url": "https://www.uniprot.org/uniprotkb/P12111/entry#A0A804HKS9-1", "sequence": { "sequence": "IGGLLAGQTYHVAVVCYLRSQVRATYHGSFSTKISAPTSTASKVSF", "length": 46, "header": "tr|A0A804HKS9-1|A0A804HKS9_HUMAN Computationally mapped isoform of Collagen type VI alpha 3 chain OS=Homo sapiens OX=9606 GN=COL6A3 PE=1 SV=1 CANONICAL=P12111-1" }, "locus": { "chromosome": "2", "start_pos": 237334722, "end_pos": 237333506, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000683348.1", "url": "https://www.ensembl.org/id/ENST00000683348.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508058.1", "url": "https://www.ensembl.org/id/ENSP00000508058.1" } ] } }, { "isoform_ac": "C9JNG9-1", "url": "https://www.uniprot.org/uniprotkb/P12111/entry#C9JNG9-1", "sequence": { "sequence": "MRKHRHLPLVAVFCLFLSGFPTTHAQQQQADVKNGAAADIIFLVDSSWTIGEEHFQLVREFLYDVVKSLAVGENDFHFALVQFNGNPHTEFLLNTYRTKQEVLSHISNMSYIGGTNQTGKGLEYIMQSHLTKAAGSRAGDGVPQVIVVLTDGHSKDGLALPSAELKSADVNVFAIGVEDADEGALKEIASEPLNMHMFNLENFTSLHDIVGNLVSCVHSSVSPERAGDTETLKDITAQDSADIIFLIDGSNNTGSVNFAVILDFLVNLLEKLPIGTQQIRVGVVQFSDEPRTMFSLDTYSTKAQVLGAVKALGFAGGELANIGLALDFVVENHFTRAGGSRVEEGVPQVLVLISAGPSSDEIRYGVVALKQASVFSFGLGAQAASRAELQHIATDDNLVFTVPEFRSFGDLQEKLLPYIVGVAQRHIVLKPPTIVTQVIEVNKRDIVFLVDGSSALGLANFNAIRDFIAKVIQRLEIGQDLIQVAVAQYADTVRPEFYFNTHPTKREVITAVRKMKPLDGSALYTGSALDFVRNNLFTSSAGYRAAEGIPKLLVLITGGKSLDEISQPAQELKRSSIMAFAIGNKGADQAELEEIAFDSSLVFIPAEFRAAPLQGMLPGLLAPLRTLSGTPEESKRDILFLFDGSANLVGQFPVVRDFLYKIIDELNVKPEGTRIAVAQYSDDVKVESRFDEHQSKPEILNLVKRMKI", "length": 708, "header": "tr|C9JNG9-1|CO6A3_HUMAN Computationally mapped isoform of Collagen alpha-3(VI) chain OS=Homo sapiens OX=9606 GN=COL6A3 PE=1 SV=1 CANONICAL=P12111-1" }, "locus": { "chromosome": "2", "start_pos": 237396817, "end_pos": 237377118, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000433762.1", "url": "https://www.ensembl.org/id/ENST00000433762.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000389539.1", "url": "https://www.ensembl.org/id/ENSP00000389539.1" } ] } }, { "isoform_ac": "E7ENL6-1", "url": "https://www.uniprot.org/uniprotkb/P12111/entry#E7ENL6-1", "sequence": { "sequence": "XEVTTEIRFADSKRKSVLLDKIKNLQVALTSKQQSLETAMSFVARNTFKRVRNGFLMRKVAVFFSNTPTRASPQLREAVLKLSDAGITPLFLTRQEDRQLINALQINNTAVGHALVLPAGRDLTDFLENVLTCHVCLDICNIDPSCGFGSWRPSFRDRRAAGSDVDIDMAFILDSAETTTLFQFNEMKKYIAYLVRQLDMSPDPKASQHFARVAVVQHAPSESVDNASMPPVKVEFSLTDYGSKEKLVDFLSRGMTQLQGTRALGSAIEYTIENVFESAPNPRDLKIVVLMLTGEVPEQQLEEAQRVILQAKCKGYFFVVLGIGRKVNIKEVYTFASEPNDVFFKLVDKSTELNEEPLMRFGRLLPSFVSSENAFYLSPDIRKQCDWFQGDQPTKNLVKFGHKQVNVPNNVTSSPTSNPVTTTKPVTTTKPVTTTTKPVTTTTKPVTIINQPSVKPAAAKPAPAKPVAAKPVATKMATVRPPVAVKPATAAKPVAAKPAAVRPPAAAAAKPVATKPEVPRPQAAKPAATKPATTKPMEKSQPPPPQPARSASSSTINLMVSTEPLALTETDICKLPKDEGTCRDFILKWYYDPNTKSCARFWYGGCGGNENKFGSQKECEKVCAPVLAKPGVISVMGT", "length": 638, "header": "tr|E7ENL6-1|E7ENL6_HUMAN Computationally mapped isoform of Collagen type VI alpha 3 chain OS=Homo sapiens OX=9606 GN=COL6A3 PE=1 SV=3 CANONICAL=P12111-1" }, "locus": { "chromosome": "2", "start_pos": 237344662, "end_pos": 237324775, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000347401.8", "url": "https://www.ensembl.org/id/ENST00000347401.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000315609.5", "url": "https://www.ensembl.org/id/ENSP00000315609.5" } ] } }, { "isoform_ac": "P12111-1", "url": "https://www.uniprot.org/uniprotkb/P12111/entry#P12111-1", "sequence": { "sequence": "MRKHRHLPLVAVFCLFLSGFPTTHAQQQQADVKNGAAADIIFLVDSSWTIGEEHFQLVREFLYDVVKSLAVGENDFHFALVQFNGNPHTEFLLNTYRTKQEVLSHISNMSYIGGTNQTGKGLEYIMQSHLTKAAGSRAGDGVPQVIVVLTDGHSKDGLALPSAELKSADVNVFAIGVEDADEGALKEIASEPLNMHMFNLENFTSLHDIVGNLVSCVHSSVSPERAGDTETLKDITAQDSADIIFLIDGSNNTGSVNFAVILDFLVNLLEKLPIGTQQIRVGVVQFSDEPRTMFSLDTYSTKAQVLGAVKALGFAGGELANIGLALDFVVENHFTRAGGSRVEEGVPQVLVLISAGPSSDEIRYGVVALKQASVFSFGLGAQAASRAELQHIATDDNLVFTVPEFRSFGDLQEKLLPYIVGVAQRHIVLKPPTIVTQVIEVNKRDIVFLVDGSSALGLANFNAIRDFIAKVIQRLEIGQDLIQVAVAQYADTVRPEFYFNTHPTKREVITAVRKMKPLDGSALYTGSALDFVRNNLFTSSAGYRAAEGIPKLLVLITGGKSLDEISQPAQELKRSSIMAFAIGNKGADQAELEEIAFDSSLVFIPAEFRAAPLQGMLPGLLAPLRTLSGTPEVHSNKRDIIFLLDGSANVGKTNFPYVRDFVMNLVNSLDIGNDNIRVGLVQFSDTPVTEFSLNTYQTKSDILGHLRQLQLQGGSGLNTGSALSYVYANHFTEAGGSRIREHVPQLLLLLTAGQSEDSYLQAANALTRAGILTFCVGASQANKAELEQIAFNPSLVYLMDDFSSLPALPQQLIQPLTTYVSGGVEEVPLAQPESKRDILFLFDGSANLVGQFPVVRDFLYKIIDELNVKPEGTRIAVAQYSDDVKVESRFDEHQSKPEILNLVKRMKIKTGKALNLGYALDYAQRYIFVKSAGSRIEDGVLQFLVLLVAGRSSDRVDGPASNLKQSGVVPFIFQAKNADPAELEQIVLSPAFILAAESLPKIGDLHPQIVNLLKSVHNGAPAPVSGEKDVVFLLDGSEGVRSGFPLLKEFVQRVVESLDVGQDRVRVAVVQYSDRTRPEFYLNSYMNKQDVVNAVRQLTLLGGPTPNTGAALEFVLRNILVSSAGSRITEGVPQLLIVLTADRSGDDVRNPSVVVKRGGAVPIGIGIGNADITEMQTISFIPDFAVAIPTFRQLGTVQQVISERVTQLTREELSRLQPVLQPLPSPGVGGKRDVVFLIDGSQSAGPEFQYVRTLIERLVDYLDVGFDTTRVAVIQFSDDPKVEFLLNAHSSKDEVQNAVQRLRPKGGRQINVGNALEYVSRNIFKRPLGSRIEEGVPQFLVLISSGKSDDEVDDPAVELKQFGVAPFTIARNADQEELVKISLSPEYVFSVSTFRELPSLEQKLLTPITTLTSEQIQKLLASTRYPPPAVESDAADIVFLIDSSEGVRPDGFAHIRDFVSRIVRRLNIGPSKVRVGVVQFSNDVFPEFYLKTYRSQAPVLDAIRRLRLRGGSPLNTGKALEFVARNLFVKSAGSRIEDGVPQHLVLVLGGKSQDDVSRFAQVIRSSGIVSLGVGDRNIDRTELQTITNDPRLVFTVREFRELPNIEERIMNSFGPSAATPAPPGVDTPPPSRPEKKKADIVFLLDGSINFRRDSFQEVLRFVSEIVDTVYEDGDSIQVGLVQYNSDPTDEFFLKDFSTKRQIIDAINKVVYKGGRHANTKVGLEHLRVNHFVPEAGSRLDQRVPQIAFVITGGKSVEDAQDVSLALTQRGVKVFAVGVRNIDSEEVGKIASNSATAFRVGNVQELSELSEQVLETLHDAMHETLCPGVTDAAKACNLDVILGFDGSRDQNVFVAQKGFESKVDAILNRISQMHRVSCSGGRSPTVRVSVVANTPSGPVEAFDFDEYQPEMLEKFRNMRSQHPYVLTEDTLKVYLNKFRQSSPDSVKVVIHFTDGADGDLADLHRASENLRQEGVRALILVGLERVVNLERLMHLEFGRGFMYDRPLRLNLLDLDYELAEQLDNIAEKACCGVPCKCSGQRGDRGPIGSIGPKGIPGEDGYRGYPGDEGGPGERGPPGVNGTQGFQGCPGQRGVKGSRGFPGEKGEVGEIGLDGLDGEDGDKGLPGSSGEKGNPGRRGDKGPRGEKGERGDVGIRGDPGNPGQDSQERGPKGETGDLGPMGVPGRDGVPGGPGETGKNGGFGRRGPPGAKGNKGGPGQPGFEGEQGTRGAQGPAGPAGPPGLIGEQGISGPRGSGGAAGAPGERGRTGPLGRKGEPGEPGPKGGIGNRGPRGETGDDGRDGVGSEGRRGKKGERGFPGYPGPKGNPGEPGLNGTTGPKGIRGRRGNSGPPGIVGQKGDPGYPGPAGPKGNRGDSIDQCALIQSIKDKCPCCYGPLECPVFPTELAFALDTSEGVNQDTFGRMRDVVLSIVNDLTIAESNCPRGARVAVVTYNNEVTTEIRFADSKRKSVLLDKIKNLQVALTSKQQSLETAMSFVARNTFKRVRNGFLMRKVAVFFSNTPTRASPQLREAVLKLSDAGITPLFLTRQEDRQLINALQINNTAVGHALVLPAGRDLTDFLENVLTCHVCLDICNIDPSCGFGSWRPSFRDRRAAGSDVDIDMAFILDSAETTTLFQFNEMKKYIAYLVRQLDMSPDPKASQHFARVAVVQHAPSESVDNASMPPVKVEFSLTDYGSKEKLVDFLSRGMTQLQGTRALGSAIEYTIENVFESAPNPRDLKIVVLMLTGEVPEQQLEEAQRVILQAKCKGYFFVVLGIGRKVNIKEVYTFASEPNDVFFKLVDKSTELNEEPLMRFGRLLPSFVSSENAFYLSPDIRKQCDWFQGDQPTKNLVKFGHKQVNVPNNVTSSPTSNPVTTTKPVTTTKPVTTTTKPVTTTTKPVTIINQPSVKPAAAKPAPAKPVAAKPVATKMATVRPPVAVKPATAAKPVAAKPAAVRPPAAAAAKPVATKPEVPRPQAAKPAATKPATTKPMVKMSREVQVFEITENSAKLHWERAEPPGPYFYDLTVTSAHDQSLVLKQNLTVTDRVIGGLLAGQTYHVAVVCYLRSQVRATYHGSFSTKKSQPPPPQPARSASSSTINLMVSTEPLALTETDICKLPKDEGTCRDFILKWYYDPNTKSCARFWYGGCGGNENKFGSQKECEKVCAPVLAKPGVISVMGT", "length": 3177, "header": "sp|P12111-1|CO6A3_HUMAN Isoform 1 of Collagen alpha-3(VI) chain OS=Homo sapiens OX=9606 GN=COL6A3 PE=1 SV=5 CANONICAL=P12111-1" }, "locus": { "chromosome": "2", "start_pos": 237396817, "end_pos": 237324777, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000295550.9", "url": "https://www.ensembl.org/id/ENST00000295550.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000295550.4", "url": "https://www.ensembl.org/id/ENSP00000295550.4" } ] } }, { "isoform_ac": "P12111-2", "url": "https://www.uniprot.org/uniprotkb/P12111/entry#P12111-2", "sequence": { "sequence": "MRKHRHLPLVAVFCLFLSGFPTTHAQQQQAAQDSADIIFLIDGSNNTGSVNFAVILDFLVNLLEKLPIGTQQIRVGVVQFSDEPRTMFSLDTYSTKAQVLGAVKALGFAGGELANIGLALDFVVENHFTRAGGSRVEEGVPQVLVLISAGPSSDEIRYGVVALKQASVFSFGLGAQAASRAELQHIATDDNLVFTVPEFRSFGDLQEKLLPYIVGVAQRHIVLKPPTIVTQVIEVNKRDIVFLVDGSSALGLANFNAIRDFIAKVIQRLEIGQDLIQVAVAQYADTVRPEFYFNTHPTKREVITAVRKMKPLDGSALYTGSALDFVRNNLFTSSAGYRAAEGIPKLLVLITGGKSLDEISQPAQELKRSSIMAFAIGNKGADQAELEEIAFDSSLVFIPAEFRAAPLQGMLPGLLAPLRTLSGTPEVHSNKRDIIFLLDGSANVGKTNFPYVRDFVMNLVNSLDIGNDNIRVGLVQFSDTPVTEFSLNTYQTKSDILGHLRQLQLQGGSGLNTGSALSYVYANHFTEAGGSRIREHVPQLLLLLTAGQSEDSYLQAANALTRAGILTFCVGASQANKAELEQIAFNPSLVYLMDDFSSLPALPQQLIQPLTTYVSGGVEEVPLAQPESKRDILFLFDGSANLVGQFPVVRDFLYKIIDELNVKPEGTRIAVAQYSDDVKVESRFDEHQSKPEILNLVKRMKIKTGKALNLGYALDYAQRYIFVKSAGSRIEDGVLQFLVLLVAGRSSDRVDGPASNLKQSGVVPFIFQAKNADPAELEQIVLSPAFILAAESLPKIGDLHPQIVNLLKSVHNGAPAPVSGEKDVVFLLDGSEGVRSGFPLLKEFVQRVVESLDVGQDRVRVAVVQYSDRTRPEFYLNSYMNKQDVVNAVRQLTLLGGPTPNTGAALEFVLRNILVSSAGSRITEGVPQLLIVLTADRSGDDVRNPSVVVKRGGAVPIGIGIGNADITEMQTISFIPDFAVAIPTFRQLGTVQQVISERVTQLTREELSRLQPVLQPLPSPGVGGKRDVVFLIDGSQSAGPEFQYVRTLIERLVDYLDVGFDTTRVAVIQFSDDPKVEFLLNAHSSKDEVQNAVQRLRPKGGRQINVGNALEYVSRNIFKRPLGSRIEEGVPQFLVLISSGKSDDEVDDPAVELKQFGVAPFTIARNADQEELVKISLSPEYVFSVSTFRELPSLEQKLLTPITTLTSEQIQKLLASTRYPPPAVESDAADIVFLIDSSEGVRPDGFAHIRDFVSRIVRRLNIGPSKVRVGVVQFSNDVFPEFYLKTYRSQAPVLDAIRRLRLRGGSPLNTGKALEFVARNLFVKSAGSRIEDGVPQHLVLVLGGKSQDDVSRFAQVIRSSGIVSLGVGDRNIDRTELQTITNDPRLVFTVREFRELPNIEERIMNSFGPSAATPAPPGVDTPPPSRPEKKKADIVFLLDGSINFRRDSFQEVLRFVSEIVDTVYEDGDSIQVGLVQYNSDPTDEFFLKDFSTKRQIIDAINKVVYKGGRHANTKVGLEHLRVNHFVPEAGSRLDQRVPQIAFVITGGKSVEDAQDVSLALTQRGVKVFAVGVRNIDSEEVGKIASNSATAFRVGNVQELSELSEQVLETLHDAMHETLCPGVTDAAKACNLDVILGFDGSRDQNVFVAQKGFESKVDAILNRISQMHRVSCSGGRSPTVRVSVVANTPSGPVEAFDFDEYQPEMLEKFRNMRSQHPYVLTEDTLKVYLNKFRQSSPDSVKVVIHFTDGADGDLADLHRASENLRQEGVRALILVGLERVVNLERLMHLEFGRGFMYDRPLRLNLLDLDYELAEQLDNIAEKACCGVPCKCSGQRGDRGPIGSIGPKGIPGEDGYRGYPGDEGGPGERGPPGVNGTQGFQGCPGQRGVKGSRGFPGEKGEVGEIGLDGLDGEDGDKGLPGSSGEKGNPGRRGDKGPRGEKGERGDVGIRGDPGNPGQDSQERGPKGETGDLGPMGVPGRDGVPGGPGETGKNGGFGRRGPPGAKGNKGGPGQPGFEGEQGTRGAQGPAGPAGPPGLIGEQGISGPRGSGGAAGAPGERGRTGPLGRKGEPGEPGPKGGIGNRGPRGETGDDGRDGVGSEGRRGKKGERGFPGYPGPKGNPGEPGLNGTTGPKGIRGRRGNSGPPGIVGQKGDPGYPGPAGPKGNRGDSIDQCALIQSIKDKCPCCYGPLECPVFPTELAFALDTSEGVNQDTFGRMRDVVLSIVNDLTIAESNCPRGARVAVVTYNNEVTTEIRFADSKRKSVLLDKIKNLQVALTSKQQSLETAMSFVARNTFKRVRNGFLMRKVAVFFSNTPTRASPQLREAVLKLSDAGITPLFLTRQEDRQLINALQINNTAVGHALVLPAGRDLTDFLENVLTCHVCLDICNIDPSCGFGSWRPSFRDRRAAGSDVDIDMAFILDSAETTTLFQFNEMKKYIAYLVRQLDMSPDPKASQHFARVAVVQHAPSESVDNASMPPVKVEFSLTDYGSKEKLVDFLSRGMTQLQGTRALGSAIEYTIENVFESAPNPRDLKIVVLMLTGEVPEQQLEEAQRVILQAKCKGYFFVVLGIGRKVNIKEVYTFASEPNDVFFKLVDKSTELNEEPLMRFGRLLPSFVSSENAFYLSPDIRKQCDWFQGDQPTKNLVKFGHKQVNVPNNVTSSPTSNPVTTTKPVTTTKPVTTTTKPVTTTTKPVTIINQPSVKPAAAKPAPAKPVAAKPVATKMATVRPPVAVKPATAAKPVAAKPAAVRPPAAAAAKPVATKPEVPRPQAAKPAATKPATTKPMVKMSREVQVFEITENSAKLHWERAEPPGPYFYDLTVTSAHDQSLVLKQNLTVTDRVIGGLLAGQTYHVAVVCYLRSQVRATYHGSFSTKKSQPPPPQPARSASSSTINLMVSTEPLALTETDICKLPKDEGTCRDFILKWYYDPNTKSCARFWYGGCGGNENKFGSQKECEKVCAPVLAKPGVISVMGT", "length": 2971, "header": "sp|P12111-2|CO6A3_HUMAN Isoform 2 of Collagen alpha-3(VI) chain OS=Homo sapiens OX=9606 GN=COL6A3 PE=1 SV=5 CANONICAL=P12111-1" }, "locus": { "chromosome": "2", "start_pos": 237396817, "end_pos": 237324777, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000353578.9", "url": "https://www.ensembl.org/id/ENST00000353578.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000315873.4", "url": "https://www.ensembl.org/id/ENSP00000315873.4" } ] } }, { "isoform_ac": "P12111-3", "url": "https://www.uniprot.org/uniprotkb/P12111/entry#P12111-3", "sequence": { "sequence": "MRKHRHLPLVAVFCLFLSGFPTTHAQQQQAVIEVNKRDIVFLVDGSSALGLANFNAIRDFIAKVIQRLEIGQDLIQVAVAQYADTVRPEFYFNTHPTKREVITAVRKMKPLDGSALYTGSALDFVRNNLFTSSAGYRAAEGIPKLLVLITGGKSLDEISQPAQELKRSSIMAFAIGNKGADQAELEEIAFDSSLVFIPAEFRAAPLQGMLPGLLAPLRTLSGTPEVHSNKRDIIFLLDGSANVGKTNFPYVRDFVMNLVNSLDIGNDNIRVGLVQFSDTPVTEFSLNTYQTKSDILGHLRQLQLQGGSGLNTGSALSYVYANHFTEAGGSRIREHVPQLLLLLTAGQSEDSYLQAANALTRAGILTFCVGASQANKAELEQIAFNPSLVYLMDDFSSLPALPQQLIQPLTTYVSGGVEEVPLAQPESKRDILFLFDGSANLVGQFPVVRDFLYKIIDELNVKPEGTRIAVAQYSDDVKVESRFDEHQSKPEILNLVKRMKIKTGKALNLGYALDYAQRYIFVKSAGSRIEDGVLQFLVLLVAGRSSDRVDGPASNLKQSGVVPFIFQAKNADPAELEQIVLSPAFILAAESLPKIGDLHPQIVNLLKSVHNGAPAPVSGEKDVVFLLDGSEGVRSGFPLLKEFVQRVVESLDVGQDRVRVAVVQYSDRTRPEFYLNSYMNKQDVVNAVRQLTLLGGPTPNTGAALEFVLRNILVSSAGSRITEGVPQLLIVLTADRSGDDVRNPSVVVKRGGAVPIGIGIGNADITEMQTISFIPDFAVAIPTFRQLGTVQQVISERVTQLTREELSRLQPVLQPLPSPGVGGKRDVVFLIDGSQSAGPEFQYVRTLIERLVDYLDVGFDTTRVAVIQFSDDPKVEFLLNAHSSKDEVQNAVQRLRPKGGRQINVGNALEYVSRNIFKRPLGSRIEEGVPQFLVLISSGKSDDEVDDPAVELKQFGVAPFTIARNADQEELVKISLSPEYVFSVSTFRELPSLEQKLLTPITTLTSEQIQKLLASTRYPPPGEMGASEVLLGAFSI", "length": 1036, "header": "sp|P12111-3|CO6A3_HUMAN Isoform 3 of Collagen alpha-3(VI) chain OS=Homo sapiens OX=9606 GN=COL6A3 PE=1 SV=5 CANONICAL=P12111-1" }, "locus": { "chromosome": "2", "start_pos": 237396817, "end_pos": 237371688, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000392003.6", "url": "https://www.ensembl.org/id/ENST00000392003.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000375860.2", "url": "https://www.ensembl.org/id/ENSP00000375860.2" } ] } }, { "isoform_ac": "P12111-4", "url": "https://www.uniprot.org/uniprotkb/P12111/entry#P12111-4", "sequence": { "sequence": "MRKHRHLPLVAVFCLFLSGFPTTHAQQQQAVIEVNKRDIVFLVDGSSALGLANFNAIRDFIAKVIQRLEIGQDLIQVAVAQYADTVRPEFYFNTHPTKREVITAVRKMKPLDGSALYTGSALDFVRNNLFTSSAGYRAAEGIPKLLVLITGGKSLDEISQPAQELKRSSIMAFAIGNKGADQAELEEIAFDSSLVFIPAEFRAAPLQGMLPGLLAPLRTLSGTPEESKRDILFLFDGSANLVGQFPVVRDFLYKIIDELNVKPEGTRIAVAQYSDDVKVESRFDEHQSKPEILNLVKRMKIKTGKALNLGYALDYAQRYIFVKSAGSRIEDGVLQFLVLLVAGRSSDRVDGPASNLKQSGVVPFIFQAKNADPAELEQIVLSPAFILAAESLPKIGDLHPQIVNLLKSVHNGAPAPVSGEKDVVFLLDGSEGVRSGFPLLKEFVQRVVESLDVGQDRVRVAVVQYSDRTRPEFYLNSYMNKQDVVNAVRQLTLLGGPTPNTGAALEFVLRNILVSSAGSRITEGVPQLLIVLTADRSGDDVRNPSVVVKRGGAVPIGIGIGNADITEMQTISFIPDFAVAIPTFRQLGTVQQVISERVTQLTREELSRLQPVLQPLPSPGVGGKRDVVFLIDGSQSAGPEFQYVRTLIERLVDYLDVGFDTTRVAVIQFSDDPKVEFLLNAHSSKDEVQNAVQRLRPKGGRQINVGNALEYVSRNIFKRPLGSRIEEGVPQFLVLISSGKSDDEVDDPAVELKQFGVAPFTIARNADQEELVKISLSPEYVFSVSTFRELPSLEQKLLTPITTLTSEQIQKLLASTRYPPPAVESDAADIVFLIDSSEGVRPDGFAHIRDFVSRIVRRLNIGPSKVRVGVVQFSNDVFPEFYLKTYRSQAPVLDAIRRLRLRGGSPLNTGKALEFVARNLFVKSAGSRIEDGVPQHLVLVLGGKSQDDVSRFAQVIRSSGIVSLGVGDRNIDRTELQTITNDPRLVFTVREFRELPNIEERIMNSFGPSAATPAPPGVDTPPPSRPEKKKADIVFLLDGSINFRRDSFQEVLRFVSEIVDTVYEDGDSIQVGLVQYNSDPTDEFFLKDFSTKRQIIDAINKVVYKGGRHANTKVGLEHLRVNHFVPEAGSRLDQRVPQIAFVITGGKSVEDAQDVSLALTQRGVKVFAVGVRNIDSEEVGKIASNSATAFRVGNVQELSELSEQVLETLHDAMHETLCPGVTDAAKACNLDVILGFDGSRDQNVFVAQKGFESKVDAILNRISQMHRVSCSGGRSPTVRVSVVANTPSGPVEAFDFDEYQPEMLEKFRNMRSQHPYVLTEDTLKVYLNKFRQSSPDSVKVVIHFTDGADGDLADLHRASENLRQEGVRALILVGLERVVNLERLMHLEFGRGFMYDRPLRLNLLDLDYELAEQLDNIAEKACCGVPCKCSGQRGDRGPIGSIGPKGIPGEDGYRGYPGDEGGPGERGPPGVNGTQGFQGCPGQRGVKGSRGFPGEKGEVGEIGLDGLDGEDGDKGLPGSSGEKGNPGRRGDKGPRGEKGERGDVGIRGDPGNPGQDSQERGPKGETGDLGPMGVPGRDGVPGGPGETGKNGGFGRRGPPGAKGNKGGPGQPGFEGEQGTRGAQGPAGPAGPPGLIGEQGISGPRGSGGAAGAPGERGRTGPLGRKGEPGEPGPKGGIGNRGPRGETGDDGRDGVGSEGRRGKKGERGFPGYPGPKGNPGEPGLNGTTGPKGIRGRRGNSGPPGIVGQKGDPGYPGPAGPKGNRGDSIDQCALIQSIKDKCPCCYGPLECPVFPTELAFALDTSEGVNQDTFGRMRDVVLSIVNDLTIAESNCPRGARVAVVTYNNEVTTEIRFADSKRKSVLLDKIKNLQVALTSKQQSLETAMSFVARNTFKRVRNGFLMRKVAVFFSNTPTRASPQLREAVLKLSDAGITPLFLTRQEDRQLINALQINNTAVGHALVLPAGRDLTDFLENVLTCHVCLDICNIDPSCGFGSWRPSFRDRRAAGSDVDIDMAFILDSAETTTLFQFNEMKKYIAYLVRQLDMSPDPKASQHFARVAVVQHAPSESVDNASMPPVKVEFSLTDYGSKEKLVDFLSRGMTQLQGTRALGSAIEYTIENVFESAPNPRDLKIVVLMLTGEVPEQQLEEAQRVILQAKCKGYFFVVLGIGRKVNIKEVYTFASEPNDVFFKLVDKSTELNEEPLMRFGRLLPSFVSSENAFYLSPDIRKQCDWFQGDQPTKNLVKFGHKQVNVPNNVTSSPTSNPVTTTKPVTTTKPVTTTTKPVTTTTKPVTIINQPSVKPAAAKPAPAKPVAAKPVATKMATVRPPVAVKPATAAKPVAAKPAAVRPPAAAAAKPVATKPEVPRPQAAKPAATKPATTKPMVKMSREVQVFEITENSAKLHWERAEPPGPYFYDLTVTSAHDQSLVLKQNLTVTDRVIGGLLAGQTYHVAVVCYLRSQVRATYHGSFSTKKSQPPPPQPARSASSSTINLMVSTEPLALTETDICKLPKDEGTCRDFILKWYYDPNTKSCARFWYGGCGGNENKFGSQKECEKVCAPVLAKPGVISVMGT", "length": 2570, "header": "sp|P12111-4|CO6A3_HUMAN Isoform 4 of Collagen alpha-3(VI) chain OS=Homo sapiens OX=9606 GN=COL6A3 PE=1 SV=5 CANONICAL=P12111-1" }, "locus": { "chromosome": "2", "start_pos": 237396817, "end_pos": 237324777, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000472056.5", "url": "https://www.ensembl.org/id/ENST00000472056.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000418285.1", "url": "https://www.ensembl.org/id/ENSP00000418285.1" } ] } }, { "isoform_ac": "P12111-5", "url": "https://www.uniprot.org/uniprotkb/P12111/entry#P12111-5", "sequence": { "sequence": "MRKHRHLPLVAVFCLFLSGFPTTHAQQQQAAQDSADIIFLIDGSNNTGSVNFAVILDFLVNLLEKLPIGTQQIRVGVVQFSDEPRTMFSLDTYSTKAQVLGAVKALGFAGGELANIGLALDFVVENHFTRAGGSRVEEGVPQVLVLISAGPSSDEIRYGVVALKQASVFSFGLGAQAASRAELQHIATDDNLVFTVPEFRSFGDLQEKLLPYIVGVAQRHIVLKPPTIVTQVIEVNKRDIVFLVDGSSALGLANFNAIRDFIAKVIQRLEIGQDLIQVAVAQYADTVRPEFYFNTHPTKREVITAVRKMKPLDGSALYTGSALDFVRNNLFTSSAGYRAAEGIPKLLVLITGGKSLDEISQPAQELKRSSIMAFAIGNKGADQAELEEIAFDSSLVFIPAEFRAAPLQGMLPGLLAPLRTLSGTPEVHSNKRDIIFLLDGSANVGKTNFPYVRDFVMNLVNSLDIGNDNIRVGLVQFSDTPVTEFSLNTYQTKSDILGHLRQLQLQGGSGLNTGSALSYVYANHFTEAGGSRIREHVPQLLLLLTAGQSEDSYLQAANALTRAGILTFCVGASQANKAELEQIAFNPSLVYLMDDFSSLPALPQQLIQPLTTYVSGGVEEVPLAQPESKRDILFLFDGSANLVGQFPVVRDFLYKIIDELNVKPEGTRIAVAQYSDDVKVESRFDEHQSKPEILNLVKRMKIKTGKALNLGYALDYAQRYIFVKSAGSRIEDGVLQFLVLLVAGRSSDRVDGPASNLKQSGVVPFIFQAKNADPAELEQIVLSPAFILAAESLPKIGDLHPQIVNLLKSVHNGAPAPVSGEKDVVFLLDGSEGVRSGFPLLKEFVQRVVESLDVGQDRVRVAVVQYSDRTRPEFYLNSYMNKQDVVNAVRQLTLLGGPTPNTGAALEFVLRNILVSSAGSRITEGVPQLLIVLTADRSGDDVRNPSVVVKRGGAVPIGIGIGNADITEMQTISFIPDFAVAIPTFRQLGTVQQVISERVTQLTREELSRLQPVLQPLPSPGVGGKRDVVFLIDGSQSAGPEFQYVRTLIERLVDYLDVGFDTTRVAVIQFSDDPKVEFLLNAHSSKDEVQNAVQRLRPKGGRQINVGNALEYVSRNIFKRPLGSRIEEGVPQFLVLISSGKSDDEVDDPAVELKQFGVAPFTIARNADQEELVKISLSPEYVFSVSTFRELPSLEQKLLTPITTLTSEQIQKLLASTRYPPPGEMGASEVLLGAFSI", 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matrix metalloproteinases (MT-MMPs) in rat vascular smooth muscle cells and characterization of MT3-MMPs with and without transmembrane domain.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Shofuda K, Yasumitsu H, Nishihashi A, Miki K, Miyazaki K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "9092507", "url": "https://glygen.org/publication/PubMed/9092507" } ] }, { "title": "The alpha v beta 3 integrin `vitronectin receptor`.", "journal": "The international journal of biochemistry & cell biology", "date": "1997", "authors": "Horton MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "9251239", "url": "https://glygen.org/publication/PubMed/9251239" } ] }, { "title": "Localization of a binding site for the proteoglycan decorin on collagen XIV (undulin).", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Ehnis T, Dieterich W, Bauer M, Kresse H, Schuppan D", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "9252349", "url": "https://glygen.org/publication/PubMed/9252349" } ] }, { "title": "Solution structure and backbone dynamics of the human alpha3-chain type VI collagen C-terminal Kunitz domain.", "journal": "Biochemistry", "date": "1997", "authors": "Sorensen M D, Bjorn S, Norris K, Olsen O, Petersen L, James T L, Led J J", "evidence": [ { "database": "UniProtKB", "id": "P12111", "url": "https://www.uniprot.org/uniprotkb/P12111" } ], "reference": [ { "type": "PubMed", "id": "9265624", "url": "https://glygen.org/publication/PubMed/9265624" } ] }, { "title": "The C-type lectin domains of lecticans, a family of aggregating chondroitin sulfate proteoglycans, bind tenascin-R by protein-protein interactions independent of carbohydrate moiety.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1997", "authors": "Aspberg A, Miura R, Bourdoulous S, Shimonaka M, Heinegard D, Schachner M, Ruoslahti E, Yamaguchi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "9294172", "url": "https://glygen.org/publication/PubMed/9294172" } ] }, { "title": "Interaction of platelet-derived growth factor with thrombospondin 1.", "journal": "The Biochemical journal", "date": "1997", "authors": "Hogg PJ, Hotchkiss KA, Jimenez BM, Stathakis P, Chesterman CN", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "9334164", "url": 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"title": "Demonstration of an extracellular ATP-binding site in NCAM: functional implications of nucleotide binding.", "journal": "Biochemistry", "date": "1997", "authors": "Dzhandzhugazyan K, Bock E", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "9398268", "url": "https://glygen.org/publication/PubMed/9398268" } ] }, { "title": "The alphavbeta5 integrin functions as an endocytic receptor for vitronectin.", "journal": "Journal of cell science", "date": "1998", "authors": "Memmo LM, McKeown-Longo P", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "9443892", "url": "https://glygen.org/publication/PubMed/9443892" } ] }, { "title": "Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy.", "journal": "Human molecular genetics", "date": "1998", "authors": "Pan TC, Zhang RZ, Pericak-Vance MA, Tandan R, Fries T, Stajich JM, Viles K, Vance JM, Chu ML, Speer MC", "evidence": [ { "database": "UniProtKB", "id": "P12111", "url": "https://www.uniprot.org/uniprotkb/P12111" } ], "reference": [ { "type": "PubMed", "id": "9536084", "url": "https://glygen.org/publication/PubMed/9536084" } ] }, { "title": "Protein disulfide isomerase acts as a molecular chaperone during the assembly of procollagen.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Wilson R, Lees JF, Bulleid NJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "9545296", "url": "https://glygen.org/publication/PubMed/9545296" } ] }, { "title": "Thiol-independent interaction of protein disulphide isomerase with type X collagen during 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"MRKHRHLPLVAIFCLFFSGFSFTRAQQQADVKKGAAADIIFLVDSSWSIGKEHFQLVREFLYDVIKSLAVGENDFRFALVQFNGNPHTEFLLNTYRSKQDVLSHVSNLSYFGGSNQTGKGLEYVMQNHLTEAAGSRARDGVPQVIVVLTDRPSKDGLVLPSAELKSADVNVFAVGVEDADEGALKEIASEPLNMHVFNLENFTSLHDLVGNLVSCVHSSMTPEGAGGTETLKDITAQESADIIFLIDGSNETGSVHFAVILDFLVNLLERLSVGAQQIRVGVVQYSDEPRTMFSLNSFATKAQVLDAVKALGFLGGELANVGLALDFVVDHHFTRAGGSRVEEGVPQVLVLISAAPSSDKIRDAVLALKQASVFSFGLGAQAASKAELQHIATNDNFVFTVPEFRSFGDLQDQLLPYIVGIAHRHIVLQPPTIVTQVIEVNKRDIVFLVDGSSALGPANFQAIRDFIAKVIQRLDIGQDLIQVAVAQYADTVRPEFYFNTHPNKREVMAAVRRMKPLDGAALYTGSALEFVRNNMFTSEAGYRAAEGVPRLLVLITGGKSLDDVSQPAQELKRSSIMAFAVGNKAADQAELEEIAFDPSLVFIPTEFRASPLQGVLSSLLAPLRTLSGTTEDPAVTLVTMDIIFLLDGSVNVGRTRFPYVRDFVMNLVNSLDVGGDNIRVGLVQFSDTPVTEFSLNTYQTKSDLLAHVRQLQLKGGSGLNTGAALSYVHANHFTEAGGSRIQEQVPQLLLLLTAGPSEDSYLQAANALARSGILTFCVGASQANKAELEQIAFNPSLVYLMDDFSSLPALPQQLIQPLTTYVSGGVEEVPLAQPESKRDILFLFDGSGNLLGQFSAVRDFLYKVIDELDVKPDGTRIAVAQYSDNVRIESSFAEHQTKPEILNLVKRMKLKTGKALNLGYALDFAQRYIFVKSNGSRIEDGVLQILVLLVAGRSSDSVDRPALNLKQSGVVPFILQAKNADPGELELIVPSPAFILAAESLPKIGDLQPHIVNLLKSVQNGAPTPVSGEKDVVFLIDGSEGVRSGFPLLKEFVQRVVESLDVGPDRVRVAVVQYSDRTRPEFYLNSYMDQQSVVNAVRQLTLLGGPIPNTGAALDFVLRDILTESAGSRIAEGIPQLLIVLTADRSGDDVRGPSVVLKRGGAVPIGIGIGNADITEMQTISFIPDFAVAIPTFRQLGTVQQVISERVTRLDREELRRLQASVVPLTSVSGKRDVVFLIDGSQTAGPEFQYIRTLIERLVDSLDVGFDTSRVAVIQFSEDPRVEFLLNAHSSKDEVQNAVRRLRPKGGRRINIGGALEYVSKNIFKRPLGSRIEEGVPQFLILISSGKSDDEVDDSAAELKQFGVAPLTIARNADPEELVKISLSPEYVFSVSTFRELPSLEQKLLTPITTLTAEQIQQLLASTRPDIVSMRIDAADIVFLIDSSDGVKPDGIAHIRDFVIRIVRRLNIGPNKVRVGVVQFSNDVFPEFYLKTYRSQASVLDAIRRLRFKGGSPLNTGKALEFVARNFFVKSAGSRIEDGVPQHLVLFLGGKSQDDVSRYSQVMGSSGIVRLGVGDRNIDRTELQTITNDPRLVFTVREFRELPNIEERVMNSFGPSGVTPAPPGKKKADIVFLLDGSINFRRDSFQEVLRFVSEIVDTVYEGGDSIQVGLVQYNSDPTDEFFLKDFSTKQQIIDAINKVVYKGGRHANTKVGLEHLRLNQFVPEAGSRLEQRVPQIAFVITGGKSVEDAQEASLALTQRGVKVFAVGVRNIDSEEVGKIASNSATAFRVGNVQELSELSEQVLETLHDAMHETLCPGVTDISKACNLEVILGFDGSRDQNIFVAQKGFESKVDTILNRISQMQRISCSGTQMPTVRVSVVATTPAGPVEAFDFAEYQPEMFEKILGMRTQHPYVLTADTLKLYQNKFRQGSPGSVKVSAAALASASWAREADRVQALILVGLERVPNLEQLMQLEFGRGFTYNRPLRLNLLDLDYELAEQLDNIAEKACCGVPCKCSGQRGDRGPIGSIGPKGIPGEDGYRGYPGDEGGPGERGPPGMNGTQGFQGCPGQRGIKGSRGFPGEKGELGEIGLDGLDGEDGDKGLPGTSGDKGSPGRRGDKGPKGDKGERGDVGIRGDPVRGTFRRPWKMPFPVSSVSVPPHLPPPPRPTGPLECPVFPTELAFALDTSEGVTQDTFSLMRDVVLRIVDELTIAESNCPRGARVAVVTYNNEVITEIRFADSRKKSVLLDKIKNLQVVLTSKQQSLETAMSFVARNTFKRVRNGFLMRKVAVFFSNKPTRASPQLREAVLKLSDAGITPLFLTSQEDRVLINALQINNTAVGHALVLPARRDLPDFLKNVLTCHVCLDICNIDPSCSLGSWRPSFRDRRAAGSDVDIDMAFIVDSSETTTPFQFNEMRKYIGYVVRQLDLSPDPKASQHFARVAVVQHAPWESVGNASVPPVKVDFSLTDYGSKEKLVAFLSSRMTQLQGTRALGSAIYYTVENVFESAPNPRDLKIVVLMLTGEVQKEQLEEAQRAILQAKCKGYFFVILGIGRKVNVKELYSFASEPNDVFFKLVDKSSELNEEPLMRFGRLLPSFVSSENAFYLSPDVRKQCDWFQGDQPAKNLVKFGHKQVPASKPVTTTKPVTTTEPVTATTKPVTMVNLPASKLAAPKPVAGRPVATKTEATKPEVTKTEAAKPETTKPVAAKPETAKPVAAKPEAAKPVAARPEAAKVHVSEITENSAKLHWERPEPPSPYFYDLTVTSAQDQSLVLKQNLTVPDRVIGGLLAGQTYHVSVVCYLKSQVRATYHGSFSTSKSTVGLWKVASSSTINLMVNTEPLAGSEADVCKLPKDGGTCRKFIIKWYHDAVTGNCARFWYGGCGGNENRFDSQEECEKVCSPGK", "length": 2901 }, "evidence": [ { "id": "P12111", "url": "https://omabrowser.org/oma/group/P12111/", "database": "OMA" } ], "glygen_name": "Pig", "common_name": "Pig" }, { "uniprot_canonical_ac": "A0A8I6AHL9-1", "protein_name": "Collagen alpha-3(VI) chain", "gene_name": "Col6a3", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MRKHRHLPLVAVFSLLLSGITMTHAQQQSDVKNGAAADILFLVDSSWSAGKDRFLLVQEFLSDVVESLSVGDNDFHFALVRLNGNPHTEFLLNAYHSKQEVLSHILNMSYIGESNQTGKGLEYIIHSHLTEASGSRAADGVPQVIVVLTDGQSEEDGFALPSAELKSADVNVFAVGVEDADERTLREIASEPLSMHVFNLENVTSLHDMVGNLVSCIHSSVNPERAGDKESLKDITAQDSADIIFLIDGSQNTGKANFDVIRDFLVNVLERLSVGNQQVRVGVVQYSDEPRTMFSLDSYPSKAAVLDAVKRLSFAGGELANIGQALDFVVENHFTRTGGSRVEEGVPQVLVLISAGPSSDEIRDAVVALKQGSVFSFGLGAQAASRVELQHIATDDNLVFTVPEFRSFGDLQEQLLPYLVGVAQRHFVLQPPAIVTQVMEVNKRDIVFLVDGSSSLGQANFNAIRDFISRVIQRLEIGQDLVQVSVAQYADTVKPEFYLNTYSTKKDAITTVRKMKALEGSALYTGSALDFVRNNLFTSSAGHRAAEGVPKLLVLITGGKSLDDVSQAAQELQKGSIMALVIGSRAADEDELKEIAFDSSLVFIPAEFRPAPLQSMLPSLMAPLRTLTGTTEVHVNKRDIIFLLDGSDNVGKNNFPYVRDFVTNLVNSLDVGSDNIRVGLVQFSDTPVTEFSLDTYQTKSELLAHLRRLQLKGGTGLNAGSALSYVHANHFTEAGGSRIREHVPQLLLLLMAGPSEDVYLQAANALVRSGVLTFCVGTNQADKAELERIAFNPSLVYLMDDFSALPALPQQLIQPLTTYVSGGVQEVPLSQPEVKRDILFLFDGSVNVMGQFPAVRDFLYRIIEELDVKPDGTRVAIAQFSDDVRVESRFNEHQTKAEILNLVKKMKLKTGKGLNLGLALDHALRTIFVRSAGSRIEDNVQQFLVLLVAGRSTDAVAGPASSLKQRGVIPFIFQAKNANPSELEQIVPSPAFILAAESLPKIGDLQSEIVGLLKAKQTSDTVSGEKDVVFLIDGSEGVRSGFPLLKEFVQRVVESLDVGPNQVRVALVQYSDRTRPEFYLNSHMDQQGVISAIRRLTLLGGPTPNTGAALDFVLRNILTSSTGSRIEEGVPQLLIVLTAERSGDDVRGPSVVLKQGGAVPIGIGIGNADISEMQTISFIPDFAVAIPTFRELGTIQQVISERVIQLNREQLSSLTPVLMPSPSAGPGNKKDVVFLIDGSQNAGAEFQHIRTLIERLVEYLDIGFDTTRVAVIQFSEDTKMEFPLNAHFSKDEVQNAVRRLRPKGGRQVYIGNALEYVLKNIFQRPLGSRIEEGVPQFLVLISSGKSADEVDDSAVELKQFGVAPLTVARHTDQEELVKISLSPEYVFSVSTFRELPRLEQRLLTPITTLTSQQIQQILASTRYPPSVAESDAADIVFLIDSSDAMKPDGIAHIRDFVSRIVRRLNIGPNKVRIGVVQFSNDVFPEFYLKTHKSQNSVLEAIRRLRFKGGSPLNTGRALEFVARNLFVKSAGSRIEDGVPQHLVLFLGGKSQDDVSRHAQVISSSGIMSLGIGDRNIDRTDLQTITNDPRLVFTVREFRELPNIEERVMLSFGPSGPTPQPPEVEFPSSRPEKKKADIVFLLDGSINFRRDSFQEVLRFASEIVDTVYEDGDSIRVGLVQYNSDPTDEFFLRDFSTKRQIIDAINKVIYKGGRHANTRVGIEHLLKNHFVSEAGSRLDERVPQIAFVITGGKSVEDAQDVSLALTQKGVKVFAVGVRNIDSEEVGKIASNSATAFRVGSVQELSELSETVLETLHDAMHETLCPGVTDVSKACNLEVILGFDGSRDQNVFVSQKGLESKVDTILNRISQIQRISCSSNQLPTVRVSVVANTPSGPVEAFDFAEYQPDLFEKFRTMRSQHPYVLTADTLKLYQNKFRQSSPDTVKVVIHFTDGADGDMADLYRASEELRQAGVQALILVGLERVANLERLMQVEFGRGFMYDRPLRLNLLDLDYELAEQLDNIAEKACCGVPCKCSGERGDRGPIGSIGPKGISGEDGYRGYPGDEGGPGERGPPGVNGTQGFQGCPGQRGVKGSRGFPGEKGELGEIGLDGLDGEEGDKGLPGSSGEKGSPGRRGDKGPKGDKGERGDVGIRGDPGDSGRDSQQRGPKGETGDIGPMGLPGRDGIPGSPGDPGKDGGFGRRGPAGAKGNRGGPGQPGFEGEQGTRGSQGPPGPIGPPGLIGEQGIPGPRGGGGTAGAPGERGRTGPLGRKGEPGEPGPKGGTGNRGPRGETGDDGRDGVGSEGRRGKKGERGFPGYPGPKGTPGEPGADGPPGPKGIRGRRGNSGPPGVVGQKGDPGYPGPSGHRGNRGDSVDQCALIQSIRDKCPCCYGPLECPVFPTELAFALDTSEGVTQDTFSRMREVLLSIVGDLTIAESNCPRGARVAVVTYNNEVTTEIRFADSKKKSALLDSIQNLQVALTSKQPSLETAMSFVARNTFKRVRNGFLMRKVAIFFSNQPTKPSLQLREAVLKLSDAGITPLFLTSQEDRELINALQINNTAVGHALVLPARRDLRDFLKNVLTCHVCLDICNIDPSCGFGNWRPSFRDRRAAGSDVDIDLAFILDSSEATTLFQFNEMKKYISYMVRQLDLSPDPKASQHFARVAVVQQATYESVDNTSVPPVKVEFSLTDYGAKEKLLDFLSRRMTQLQGTMDLGNAIEYTIENIFESAPNPRDLKIVVLMLTGEIPREQLEEAQRAILQAKCKGYFFVVLGIGRKVNVKEVYSFASEPNDVFFKFMDKSTELNEEPLMRFGRLLPSFVGSGNAFYLPPDLRKQCDWFQGDQPVKNGVKFGHRQINTPHTVNSSLTSKVVTTMKPVTTTKPTSIVNLPPAKPAPVRPAPAQPVLAKPDPAKPVSAKSVPPQPVHAQPDPAQPVHVQSASAQTASAKPAPAKPAPPQTAAAKPAPPQTAAAKPAPPQTAAAKPAPPQTAAAKPVPVKPAPAQPVHVQSASAQTASAKPVPAKPAPPQTAAAKPVPVKPAVPAQPAPAQPVHAQPAPAQPVLTKPAAMKPASANKPVAAKPVATNTATVRPASAVKPAAASKPAATRPLPAAVRPVATKPEAPRPQAKPAATKPATTKPMARVSREVQVSEVTENSARLHWERPEPSSSYFYDLTVTSAHDQSLVLRQNLTVTDRVIGGLLAGQLYHVVVVSYLQSQVRAIYQGSFNTKKTQPPVLQAAHRASSSTINLMVNTEPLFLTKTDICKLPKDAGTCEDFKLLWHYDLESKSCKRFWYGGCGGNENRFHSQEECEKMCSPELSV", "length": 3316 }, "evidence": [ { "id": "RGD:1308704", "url": "https://alliancegenome.org/gene/RGD:1308704#orthology", "database": "AGR" }, { "id": "MGI:88461", "url": "https://alliancegenome.org/gene/MGI:88461#orthology", "database": "AGR" }, { "id": "HGNC:2213", "url": "https://alliancegenome.org/gene/HGNC:2213#orthology", "database": "AGR" }, { "id": "P12111", "url": "https://omabrowser.org/oma/group/P12111/", "database": "OMA" } ], "glygen_name": "Rat", "common_name": "Rat" }, { "uniprot_canonical_ac": "A0A8V0YHJ1-1", "protein_name": "Collagen alpha-3(VI) chain", "gene_name": "COL6A3", "tax_id": 9031, "organism": "Gallus gallus", "sequence": { "sequence": "MRKHRHLPLAAILGLLLSGFCSVGAQQQAAVRNVAVADIIFLVDSSWSIGKEHFQLVREFLYDVVKALDVGGNDFRFALVQFSGNPHTEFQLNTYPSNQDVLSHIANMPYMGGGSKTGKGLEYLIENHLTKAAGSRASEGVPQVIIVLTDGQSQDDVALPSSVLKSAHVNMIAVGVQDAVEGELKEIASRPFDTHLFNLENFTALHGIVGDLVASVRTSMTPEQAGAKGLVKDITAQESADLIFLIDGSDNIGSVNFQAIRDFLVNLIESLRVGAQQIHIGVVQYSDQPRTEFALNSYSTKADVLDAVKALSFRGGKEANTGAALEYVVENLFTQAGGSRIEEAVPQILVLISGGESSDDIREGLLAVKQASIFSFSIGVLNADSAELQQIATDGSFAFTALDIRNLAALRELLLPNIVGVAQRLILLEAPTIVTEVIEVNKKDIVFLIDGSTALGTGPFNSIRDFVAKIVQRLEVGPDLIQVAVAQYADTVRPEFYFNTHQNRKDVMANVKKMKLMGGTALNTGSALDFVRNNFFTSAAGCRMEEGVLPMLVLITGGKSMDAVEQAAAEMKRNRIVILAVGSRNADVAELQEIAHERDFVFQPNDFRLQFMQAILPEVLSPIRTLSGGMVIHETPSVQVTKRDIIFLLDGSLNVGNANFPFVRDFVVTLVNYLDVGTDKIRVGLVQFSDTPKTEFSLYSYQTKSDIIQRLGQLRPKGGSVLNTGSALNFVLSNHFTEAGGSRINEQVPQVLVLVTAGRSADPFLQVSNDLARAGVLTFAVGVRNADKAELEQIAFNPKMVYFMDDFSDLTTLPQELKKPITTYVSGGVEEVPLAPTESKKDILFLIDGSANLLGSFPAVRDFIHKVISDLNVGPDATRVAVAQFSDNIQIEFDFAELPSKQDMLLKVKRMRLKTGKQLNIGVALDEVMRRLFVKEAGSRIEEGIPQFLVLLAAGRSTDEVERPSGALKEAGVVTFAIKAKNADLSELERIAYAPQFILNVESLPRISELQANIVNLLKTIQFQPTVVERGEKKDVVFLIDGSDGVRRGFPLLKTFVERVVESLDIGRDKVRVAIVQYSNAIQPEFLLDAYEDKADLVSAIQALTIMGGSPLNTGAALDYLIKNVFTVSSGSRIAEGVPQFLILLTADRSQDDVRRPSVVLKTSGTVPFGIGIGNADLTELQTISFLPDFAISVPDFSQLDSVQQAVSNRVIRLTKKEIESLAPDLVFTSPSPVGVKRDVVFLVDGSRYAAQEFYLIRDLIERIVNNLDVGFDTTRISVVQFSEHPHVEFLLNAHSTKDEVQGAVRRLRPRGGQQVNVGEALEFVAKTIFTRPSGSRIEEGVPQFLVILSSRKSDDDLEFPSVQVKQVGVAPMVIAKNMDPEEMVQISLSPDYVFQVSSFQELPSLEQKLLAPIETLTADQIRQLLGDVTTIPDVSGEEKDVVFLIDSSDSVRSDGLAHIRDFISRIVQQLDVGPNKVRIGVVQFSNNVFPEFYLRTHKSKNAVLQAIRRLRLRGGYPVNAGKALDYVVKNYFIKSAGSRIEDGVPQHLVVILGDQSQDDVNRPANVISSTSIQPLGVGARNVDRNQLQVITNDPGRVLVVQDFTGLPTLERKVQNILEELTVPTTEGPVYPGPEGKKQADIVFLLDGSINLGRDNFQEVLQFVYSIVDAIYEDGDSIQVGLAQYNSDVTDEFFLKDYSSKPEILDAINKVIYKGGRVANTGAAIKHLQAKHFVKEAGSRIDQRVPQIAFIITGGKSSDDGQGASMEVAQKGVKVFAVGVRNIDLEEVSKLASESATSFRVSTAQELSELNEQVLVTLAAAMKEKLCPGTTDVTRDCDLDVILGFDVSDVGAGQNIFNSQRGLESRVEAVLNRITQMQKISCTGSRAPSVRVAIMAQSRGGPVEGLDFSEYQPELFERFQGMRTRGPYFLTAETLKSYQNKFRSAPSGSTKVVIHFTDGTDDYLDQMKTASADLRRQGVHALLFVGLDRVKNFEEVMQLEFGRGFTYNRPLRVNLLDLDFELAEQLDNIAERTCCGVPCKCSGQRGDRGLPGPIGPKGATGEIGYGGYPGDEGGPGERGPPGVNGTQGFQGCPGHRGTKGSRGFPGEKGELGEMGLDGIDGEEGDKGLPGSSGEKGFSGRRGSKGAKGERGERGDRGLRGDPGESGADNTQRGTRGQKGEIGQMGEPGPAGQRGQDGGVGRKGMAGRRGPIGVKGTKGALGQPGPAGEQGMRGPQGPPGQIGTPGIRGEQGIPGPRAGGGQPGAPGERGRIGPLGQKGEPGNPGPRGPNGQQGPRGEMGDDGRDGIGGPGPKGRKGERGFVGYPGPKGGPGDRGGAGGPGPKGNRGRRGNAGNPGTPGQKGEIGYPGPSGLKGDKGPSISQCALVQNIKDKCPCCYGPKECPVFPTELAFAIDTSSGVGRDVFNRMKQTVLRVVSNLTIAESNCPRGARVALVTYNNEVTTEIRFADARKKSSLLQQIQNFQATLTTKPRSLETAMSFVARNTFKRARSGFLMRKVAVFFSNGETRASPQLNDAVLKLYDAGVTPVFLTSRQDAVLERALEINNTAVGHAIILPTSGSQLNDTIRRLLTCHVCLDVCEPDPICGYGSQRPVFRDRRAAPTDVDTDIAFIMDSSASTTPLQFNEMKKYISHLVSNMEISSEPKISQHHARVAVLQQAPYDHETNSSFPPVKTEFSLTDYGSKEKIINYLHNQMTQLYGTMAMGSAVEHTVAHVFESAPNPRDLKVIVLMITGKMEKQELEYLREAVIDAKCKGYLFVILGIGKNVDVKNIYSLASEPNDVFFKLVSKPGELHEEPLLRFGRLLPSFIRSDFAFYLSPEIRKQCKWLQADQTPKSPGHTGQKAVYIAPNGTVTQTISTTTTLSTTFKPAASTSAHAKTTTASTMAQTRATERPTESTTVQVNATVQSQGSTAANTKATSRTTTSTTAAAASGRRRQGAKMNDIQITDVTENSARLRWASPEPHNAYVFDLAITLAHDHSLVLKQNVTGTERVIGGLRSGQKYLVFITGYLKSQPKVTYTGTFSTKTPAQPKVALANMMLNAEPLEGPENDLADPCLLDFDMGMQCKDYQVVWFFDYKHKICSQGWYGGCGGNANRFETEAECNSKCLKPSAAEKAMQQPPLEKRLSPVMDICLLQKEEGTCRNFVLKWHYDLKTKSCARFWYGGCGGNENRFNTQKECEKACSPGNISPGVVTTIGT", "length": 3215 }, "evidence": [ { "id": "P12111", "url": "https://omabrowser.org/oma/group/P12111/", "database": "OMA" } ], "glygen_name": "Chicken", "common_name": "Chicken" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "serine-type endopeptidase inhibitor activity", "id": "GO:0004867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867", "evidence": [ { "database": "UniProtKB", "id": "P12111", "url": "https://www.uniprot.org/uniprotkb/P12111" } ], "pmid": "" }, { "name": "extracellular matrix structural constituent conferring tensile strength", "id": "GO:0030020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030020", "evidence": [ { "database": "UniProtKB", "id": "P12111", "url": "https://www.uniprot.org/uniprotkb/P12111" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 8, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P12111", "url": "https://www.uniprot.org/uniprotkb/P12111" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P12111", "url": "https://www.uniprot.org/uniprotkb/P12111" } ], "pmid": "" }, { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "P12111", "url": "https://www.uniprot.org/uniprotkb/P12111" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "P12111", "url": "https://www.uniprot.org/uniprotkb/P12111" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P12111", "url": "https://www.uniprot.org/uniprotkb/P12111" } ], "pmid": "" }, { "name": "extracellular vesicle", "id": "GO:1903561", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903561", "evidence": [ { "database": "UniProtKB", "id": "P12111", "url": "https://www.uniprot.org/uniprotkb/P12111" } ], "pmid": "" }, { "name": "microfibril", "id": "GO:0001527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001527", "evidence": [ { "database": "UniProtKB", "id": "P12111", "url": "https://www.uniprot.org/uniprotkb/P12111" } ], "pmid": "" }, { "name": "collagen type VI trimer", "id": "GO:0005589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005589", "evidence": [ { "database": "UniProtKB", "id": "P12111", "url": "https://www.uniprot.org/uniprotkb/P12111" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "P12111", "url": "https://www.uniprot.org/uniprotkb/P12111" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "P12111", "url": "https://www.uniprot.org/uniprotkb/P12111" } ], "pmid": "" }, { "name": "response to glucose", "id": "GO:0009749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009749", "evidence": [ { "database": "UniProtKB", "id": "P12111", "url": "https://www.uniprot.org/uniprotkb/P12111" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "collagen alpha-3(VI) chain O-glycosylated 1 (human)", "definition": "A collagen alpha-3(VI) chain (human) that has been O-glycosylated at the residue equivalent to Ser-3100 of the amino acid sequence represented by UniProtKB:P12111-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P12111-1, Ser-3100, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054975", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054975" } ] }, { "name": "collagen alpha-3(VI) chain O-glycosylated 2 (human)", "definition": "A collagen alpha-3(VI) chain (human) that has been O-glycosylated at the residue equivalent to Ser-3100 of the amino acid sequence represented by UniProtKB:P12111-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P12111-1, Ser-3100, MOD:00002~GNO:G53434XO. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054976", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054976" } ] }, { "name": "collagen alpha-3(VI) chain O-glycosylated 3 (human)", "definition": "A collagen alpha-3(VI) chain (human) that has been O-glycosylated at the residue equivalent to Thr-1423 of the amino acid sequence represented by UniProtKB:P12111-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P12111-1, Thr-1423, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054977", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054977" } ] }, { "name": "collagen alpha-3(VI) chain O-glycosylated 4 (human)", "definition": "A collagen alpha-3(VI) chain (human) that has been O-glycosylated at the residue equivalent to Thr-1619 of the amino acid sequence represented by UniProtKB:P12111-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P12111-1, Thr-1619, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054978", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054978" } ] }, { "name": "collagen alpha-3(VI) chain O-glycosylated 5 (human)", "definition": "A collagen alpha-3(VI) chain (human) that has been O-glycosylated at the residue equivalent to Thr-1619 of the amino acid sequence represented by UniProtKB:P12111-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P12111-1, Thr-1619, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054979", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054979" } ] }, { "name": "collagen alpha-3(VI) chain O-glycosylated 6 (human)", "definition": "A collagen alpha-3(VI) chain (human) that has been O-glycosylated at the residue equivalent to Thr-1619 of the amino acid sequence represented by UniProtKB:P12111-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P12111-1, Thr-1619, MOD:00005~GNO:G53434XO. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054980", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054980" } ] }, { "name": "collagen alpha-3(VI) chain O-glycosylated 7 (human)", "definition": "A collagen alpha-3(VI) chain (human) that has been O-glycosylated at the residue equivalent to Thr-1619 of the amino acid sequence represented by UniProtKB:P12111-1, in which the glycan composition is represented by GlyTouCan:G58001LT. Example: UniProtKB:P12111-1, Thr-1619, MOD:00005~GNO:G58001LT. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054981", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054981" } ] }, { "name": "collagen alpha-3(VI) chain O-glycosylated 8 (human)", "definition": "A collagen alpha-3(VI) chain (human) that has been O-glycosylated at the residue equivalent to Thr-1627 of the amino acid sequence represented by UniProtKB:P12111-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P12111-1, Thr-1627, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054982", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054982" } ] }, { "name": "collagen alpha-3(VI) chain O-glycosylated 9 (human)", "definition": "A collagen alpha-3(VI) chain (human) that has been O-glycosylated at the residue equivalent to Thr-1627 of the amino acid sequence represented by UniProtKB:P12111-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P12111-1, Thr-1627, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054983", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054983" } ] }, { "name": "collagen alpha-3(VI) chain O-glycosylated 10 (human)", "definition": "A collagen alpha-3(VI) chain (human) that has been O-glycosylated at the residue equivalent to Thr-3101 of the amino acid sequence represented by UniProtKB:P12111-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P12111-1, Thr-3101, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054984", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054984" } ] }, { "name": "collagen alpha-3(VI) chain O-glycosylated 11 (human)", "definition": "A collagen alpha-3(VI) chain (human) that has been O-glycosylated at the residue equivalent to Thr-3101 of the amino acid sequence represented by UniProtKB:P12111-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P12111-1, Thr-3101, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054985", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054985" } ] } ], "site_annotation": [ { "start_pos": 108, "end_pos": 110, "annotation": "n_glycosylation_sequon" }, { "start_pos": 116, "end_pos": 118, "annotation": "n_glycosylation_sequon" }, { "start_pos": 202, "end_pos": 204, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2079, "end_pos": 2081, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2331, "end_pos": 2333, "annotation": "n_glycosylation_sequon" }, { "start_pos": 251, "end_pos": 253, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2558, "end_pos": 2560, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2677, "end_pos": 2679, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2861, "end_pos": 2863, "annotation": "n_glycosylation_sequon" }, { "start_pos": 3037, "end_pos": 3039, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.", "evidence": [ { "database": "UniProtKB", "id": "P12111", "url": "https://www.uniprot.org/uniprotkb/P12111" }, { "database": "PubMed", "id": "1689238", "url": "https://glygen.org/publication/PubMed/1689238" } ] } ], "interactions": [ { "interactor_id": "G16235VG", "interaction_name": "matrixdb:Hyaluronan(short label)", "interaction_type": "Glycosaminoglycan", "evidence": [ { "database": "MatrixDB", "id": "GAG_9", "url": "https://matrixdb.univ-lyon1.fr/biomolecule/GAG_9" }, { "database": "PubMed", "id": "1425570", "url": "https://glygen.org/publication/PubMed/1425570" } ] } ], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "structures": [ { "pdb_id": "9gtu", "pdb_chain": "c", "start_pos": 2344, "end_pos": 2820, "overlap": "1.0", "method": "Electron_Microscopy", "type": "experimental", "resolution": -1.0, "url": "https://data.glygen.org/ln2downloads/pdb/current/9gtu.pdb", "url_external": "https://www.rcsb.org/structure/9gtu" }, { "pdb_id": "6snk", "pdb_chain": "a/b", "start_pos": 1634, "end_pos": 1833, "overlap": "1.0", "method": "X-Ray_Crystallography", "type": "experimental", "resolution": -1.0, "url": "https://data.glygen.org/ln2downloads/pdb/current/6snk.pdb", "url_external": "https://www.rcsb.org/structure/6snk" }, { "pdb_id": "1kth", "pdb_chain": "a", "start_pos": 3108, "end_pos": 3165, "overlap": "1.0", "method": "X-Ray_Crystallography", "type": "experimental", "resolution": -1.0, "url": "https://data.glygen.org/ln2downloads/pdb/current/1kth.pdb", "url_external": "https://www.rcsb.org/structure/1kth" } ], "lectin_list": [], "domain_list": [ { "evidence": [ { "id": "P12111", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P12111" }, { "id": "PRU00031", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00031" }, { "id": "E7ENL6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E7ENL6" }, { "id": "PS50279", "database": "PROSITE", "url": "https://prosite.expasy.org/PS50279" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "BPTI/Kunitz inhibitor", "eco_id": "ECO_0000255", "start_pos": 3112, "end_pos": 3162, "start_aa": "Cys", "end_aa": "Cys", "glycosite_overlap": "" }, { "evidence": [ { "id": "P12111", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P12111" }, { "id": "PRU00316", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00316" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Fibronectin type-III", "eco_id": "ECO_0000255", "start_pos": 2991, "end_pos": 3085, "start_aa": "Met", "end_aa": "Gln", "glycosite_overlap": "Asn3037" }, { "evidence": [ { "id": "C9JNG9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/C9JNG9" }, { "id": "PS50234", "database": "PROSITE", "url": "https://prosite.expasy.org/PS50234" }, { "id": "A0A804HKC7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A0A804HKC7" }, { "id": "E7ENL6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E7ENL6" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "VWFA", "eco_id": "ECO_0000259", "start_pos": 39, "end_pos": 213, "start_aa": "Asp", "end_aa": "Leu", "glycosite_overlap": "Asn116,Thr118,Asn202,Asn108" }, { "evidence": [ { "id": "P12111", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P12111" }, { "id": "PRU00219", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00219" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "VWFA 1", "eco_id": "ECO_0000255", "start_pos": 39, "end_pos": 213, "start_aa": "Asp", "end_aa": "Leu", "glycosite_overlap": "Asn116,Thr118,Asn202,Asn108" }, { "evidence": [ { "id": "P12111", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P12111" }, { "id": "PRU00219", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00219" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "VWFA 10", "eco_id": "ECO_0000255", "start_pos": 1838, "end_pos": 2024, "start_aa": "Asp", "end_aa": "Ile", "glycosite_overlap": "Ser1944" }, { "evidence": [ { "id": "P12111", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P12111" }, { "id": "PRU00219", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00219" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "VWFA 11", "eco_id": "ECO_0000255", "start_pos": 2402, "end_pos": 2581, "start_aa": "Glu", "end_aa": "Val", "glycosite_overlap": "Asn2558,Thr2560" }, { "evidence": [ { "id": "P12111", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P12111" }, { "id": "PRU00219", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00219" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "VWFA 12", "eco_id": "ECO_0000255", "start_pos": 2619, "end_pos": 2815, "start_aa": "Asp", "end_aa": "Leu", "glycosite_overlap": "Asn2677" }, { "evidence": [ { "id": "P12111", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P12111" }, { "id": "PRU00219", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00219" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "VWFA 2", "eco_id": "ECO_0000255", "start_pos": 242, "end_pos": 419, "start_aa": "Asp", "end_aa": "Ile", "glycosite_overlap": "Asn251" }, { "evidence": [ { "id": "P12111", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P12111" }, { "id": "PRU00219", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00219" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "VWFA 3", "eco_id": "ECO_0000255", "start_pos": 445, "end_pos": 620, "start_aa": "Asp", "end_aa": "Leu", "glycosite_overlap": "" }, { "evidence": [ { "id": "P12111", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P12111" }, { "id": "PRU00219", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00219" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "VWFA 4", "eco_id": "ECO_0000255", "start_pos": 639, "end_pos": 816, "start_aa": "Asp", "end_aa": "Leu", "glycosite_overlap": "" }, { "evidence": [ { "id": "P12111", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P12111" }, { "id": "PRU00219", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00219" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "VWFA 5", "eco_id": "ECO_0000255", "start_pos": 837, "end_pos": 1009, "start_aa": "Asp", "end_aa": "Ile", "glycosite_overlap": "" }, { "evidence": [ { "id": "P12111", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P12111" }, { "id": "PRU00219", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00219" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "VWFA 6", "eco_id": "ECO_0000255", "start_pos": 1029, "end_pos": 1205, "start_aa": "Asp", "end_aa": "Val", "glycosite_overlap": "Asn1150" }, { "evidence": [ { "id": "P12111", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P12111" }, { "id": "PRU00219", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00219" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "VWFA 7", "eco_id": "ECO_0000255", "start_pos": 1233, "end_pos": 1404, "start_aa": "Asp", "end_aa": "Leu", "glycosite_overlap": "" }, { "evidence": [ { "id": "P12111", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P12111" }, { "id": "PRU00219", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00219" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "VWFA 8", "eco_id": "ECO_0000255", "start_pos": 1436, "end_pos": 1609, "start_aa": "Asp", "end_aa": "Ile", "glycosite_overlap": "" }, { "evidence": [ { "id": 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