{ "uniprot_canonical_ac": "O95255-1", "uniprot_ac": "O95255", "uniprot_id": "MRP6_HUMAN", "mass": { "chemical_mass": 164906.0, "monoisotopic_mass": 164906.0 }, "refseq": { "ac": "NP_001072996", "name": "URG7 protein isoform 2", "summary": "The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). The encoded protein, a member of the MRP subfamily, is involved in multi-drug resistance. Mutations in this gene cause pseudoxanthoma elasticum. Alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072996" }, "gene_names": [ { "name": "ABCC6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95255", "id": "O95255" }, { "name": "ABC34; ARA; EST349056; GACI2; MLP1; MOAT-E; MOATE; MRP6; PXE; PXE1; URG7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072996", "id": "NP_001072996" }, { "name": "ABCC6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072996", "id": "NP_001072996" }, { "name": "ARA", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95255", "id": "O95255" }, { "name": "MRP6", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95255", "id": "O95255" } ], "protein_names": [ { "name": "ATP-binding cassette sub-family C member 6", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95255" }, { "name": "7.6.2.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95255" }, { "name": "7.6.2.3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95255" }, { "name": "Anthracycline resistance-associated protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95255" }, { "name": "MOAT-E", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95255" }, { "name": "Multi-specific organic anion transporter E", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95255" }, { "name": "Multidrug resistance-associated protein 6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95255" }, { "name": "URG7 protein isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072996", "id": "NP_001072996" }, { "name": "multidrug resistance-associated protein 6; anthracycline resistance-associated protein; ATP-binding cassette, sub-family C (CFTR/MRP), member 6; multi-specific organic anion transporter E", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072996", "id": "NP_001072996" } ], "function": [ { "annotation": "ATP-dependent transporter of the ATP-binding cassette (ABC) family that actively extrudes physiological compounds, and xenobiotics from cells. Mediates ATP-dependent transport of glutathione conjugates such as leukotriene-c4 (LTC4) and N-ethylmaleimide S-glutathione (NEM-GS) (in vitro), and an anionic cyclopentapeptide endothelin antagonist, BQ-123 (PubMed:11880368, PubMed:12414644). May contribute to regulate the transport of organic compounds in testes across the blood-testis-barrier (Probable). Does not appear to actively transport drugs outside the cell. Confers low levels of cellular resistance to etoposide, teniposide, anthracyclines and cisplatin (PubMed:12414644).", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255#function" }, { "database": "PubMed", "id": "12414644", "url": "https://glygen.org/publication/PubMed/12414644" }, { "database": "PubMed", "id": "35307651", "url": "https://glygen.org/publication/PubMed/35307651" }, { "database": "PubMed", "id": "11880368", "url": "https://glygen.org/publication/PubMed/11880368" } ] }, { "annotation": "CircZXDC Promotes Vascular Smooth Muscle Cell Transdifferentiation via Regulating miRNA-125a-3p/ABCC6 in Moyamoya Disease. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001072996", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072996" }, { "database": "PubMed", "id": "36497052", "url": "https://glygen.org/publication/PubMed/36497052" } ] }, { "annotation": "High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease.", "evidence": [ { "database": "RefSeq", "id": "NP_001072996", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072996" }, { "database": "PubMed", "id": "36261288", "url": "https://glygen.org/publication/PubMed/36261288" } ] }, { "annotation": "Inhibits TNF-alpha-mediated apoptosis through blocking one or more caspases.", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255#function" }, { "database": "PubMed", "id": "23912081", "url": "https://glygen.org/publication/PubMed/23912081" } ] }, { "annotation": "Mediates the release of nucleoside triphosphates, predominantly ATP, into the circulation, where it is rapidly converted into AMP and the mineralization inhibitor inorganic pyrophosphate (PPi) by the ecto-enzyme ectonucleotide pyrophosphatase phosphodiesterase 1 (ENPP1), therefore playing a role in PPi homeostasis.", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255#function" }, { "database": "PubMed", "id": "24969777", "url": "https://glygen.org/publication/PubMed/24969777" }, { "database": "PubMed", "id": "24277820", "url": "https://glygen.org/publication/PubMed/24277820" } ] }, { "annotation": "The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.", "evidence": [ { "database": "RefSeq", "id": "NP_001072996", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072996" }, { "database": "PubMed", "id": "36317459", "url": "https://glygen.org/publication/PubMed/36317459" } ] }, { "annotation": "The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). The encoded protein, a member of the MRP subfamily, is involved in multi-drug resistance. Mutations in this gene cause pseudoxanthoma elasticum. Alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001072996", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072996" } ] } ], "disease": [ { "disease_id": "DOID:0050644", "recommended_name": { "id": "DOID:0050644", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050644", "name": "arterial calcification of infancy", "description": "A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall." }, "synonyms": [ { "id": "DOID:0050644", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050644", "name": "generalized arterial calcification of infancy", "description": "" }, { "id": "DOID:0050644", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050644", "name": "idiopathic infantile arterial calcification", "description": "" }, { "id": "DOID:0050644", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050644", "name": "infantile arteriosclerosis", "description": "" }, { "id": "MONDO:0013768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013768", "name": "arterial calcification, generalized, of infancy, 2", "description": "Any arterial calcification of infancy in which the cause of the disease is a mutation in the ABCC6 gene." }, { "id": "MONDO:0013768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013768", "name": "ABCC6 arterial calcification of infancy", "description": "" }, { "id": "MONDO:0013768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013768", "name": "arterial calcification of infancy caused by mutation in ABCC6", "description": "" }, { "id": "MONDO:0013768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013768", "name": "arterial calcification, generalized, of infancy, 2", "description": "" }, { "id": "MONDO:0013768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013768", "name": "arterial calcification, generalized, of infancy, type 2", "description": "" }, { "id": "MONDO:0013768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013768", "name": "GACI2", "description": "" }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "arterial calcification, generalized, of infancy, 1", "description": "An autosomal recessive genetic disorder caused by mutations in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by calcification and narrowing of medium- and large-sized arteries, resulting in cardiovascular complications." }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "ENPP1 arterial calcification of infancy", "description": "" }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "arterial calcification of infancy caused by mutation in ENPP1", "description": "" }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "arterial calcification, generalized, of infancy, 1", "description": "" }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "arterial calcification, generalized, of infancy, type 1", "description": "" }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "generalised arterial calcification of infancy 1", "description": "" }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "generalized arterial calcification of infancy 1", "description": "" }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "GACI1", "description": "" }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "Gaci", "description": "" }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "arterial calcification, idiopathic infantile", "description": "" }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "arteriopathy, occlusive infantile", "description": "" }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "coronary sclerosis, medial, of infancy", "description": "" }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "idiopathic infantile arterial calcification", "description": "" }, { "id": "MIM:614473", "resource": "MIM", "url": "https://www.omim.org/entry/614473", "name": "Arterial calcification of infancy, generalized, 2", "description": "Arterial calcification of infancy, generalized, 2" }, { "id": "MIM:208000", "resource": "MIM", "url": "https://www.omim.org/entry/208000", "name": "Arterial calcification of infancy, generalized, 1", "description": "Arterial calcification of infancy, generalized, 1" } ], "evidence": [ { "id": "614473", "database": "MIM", "url": "https://www.omim.org/entry/614473" } ] }, { "disease_id": "DOID:2738", "recommended_name": { "id": "DOID:2738", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2738", "name": "pseudoxanthoma elasticum", "description": "A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system." }, "synonyms": [ { "id": "DOID:2738", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2738", "name": "Gronblad-Strandberg syndrome", "description": "" }, { "id": "MONDO:0008333", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008333", "name": "pseudoxanthoma elasticum, forme fruste", "description": "An autosomal dominant form of PXE." }, { "id": "MONDO:0008333", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008333", "name": "pseudoxanthoma elasticum, forme fruste", "description": "" }, { "id": "MONDO:0008333", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008333", "name": "pseudoxanthoma elasticum, heterozygous", "description": "" }, { "id": "MONDO:0009925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009925", "name": "autosomal recessive inherited pseudoxanthoma elasticum", "description": "An autosomal recessive form of PXE." }, { "id": "MONDO:0009925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009925", "name": "AR inherited pseudoxanthoma elasticum", "description": "" }, { "id": "MONDO:0009925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009925", "name": "Gronblad-Strandberg syndrome", "description": "" }, { "id": "MONDO:0009925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009925", "name": "Gronblad-Strandberg-Touraine syndrome", "description": "" }, { "id": "MONDO:0009925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009925", "name": "PXE", "description": "" }, { "id": "MONDO:0009925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009925", "name": "Gronblad Strandberg syndrome", "description": "" }, { "id": "MONDO:0009925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009925", "name": "PXE, modifier of severity of", "description": "" }, { "id": "MONDO:0009925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009925", "name": "pseudoxanthoma elasticum", "description": "" }, { "id": "MONDO:0009925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009925", "name": "pseudoxanthoma elasticum, modifier of severity of", "description": "" }, { "id": "MIM:264800", "resource": "MIM", "url": "https://www.omim.org/entry/264800", "name": "Pseudoxanthoma elasticum", "description": "Pseudoxanthoma elasticum" } ], "evidence": [ { "id": "264800", "database": "MIM", "url": "https://www.omim.org/entry/264800" } ] } ], "snv": [ { "evidence": [ { "id": "O95255", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95255" } ], "glycoeffect": [], "start_pos": 1268, "end_pos": 1268, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "16157742", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1268", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O95255", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95255" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 398, "end_pos": 398, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (SGS->NGS).", "chr_id": "16", "chr_pos": "16198166", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S398", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1420424274", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1420424274" }, { "id": "rs1420424274", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1420424274" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 402, "end_pos": 402, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KAS->NAS).", "chr_id": "16", "chr_pos": "16198153", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K402", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs72653775", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs72653775" }, { "id": "rs72653775", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs72653775" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 562, "end_pos": 562, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAM->NAT).", "chr_id": "16", "chr_pos": "16188925", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M562", "disease": [ { "disease_id": "DOID:0050644", "recommended_name": { "id": "DOID:0050644", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050644", "name": "arterial calcification of infancy", "description": "A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall." }, "synonyms": [ { "id": "DOID:0050644", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050644", "name": "generalized arterial calcification of infancy", "description": "" }, { "id": "DOID:0050644", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050644", "name": "idiopathic infantile arterial calcification", "description": "" }, { "id": "DOID:0050644", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050644", "name": "infantile arteriosclerosis", "description": "" }, { "id": "MONDO:0013768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013768", "name": "arterial calcification, generalized, of infancy, 2", "description": "Any arterial calcification of infancy in which the cause of the disease is a mutation in the ABCC6 gene." }, { "id": "MONDO:0013768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013768", "name": "ABCC6 arterial calcification of infancy", "description": "" }, { "id": "MONDO:0013768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013768", "name": "arterial calcification of infancy caused by mutation in ABCC6", "description": "" }, { "id": "MONDO:0013768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013768", "name": "arterial calcification, generalized, of infancy, 2", "description": "" }, { "id": "MONDO:0013768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013768", "name": "arterial calcification, generalized, of infancy, type 2", "description": "" }, { "id": "MONDO:0013768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013768", "name": "GACI2", "description": "" }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "arterial calcification, generalized, of infancy, 1", "description": "An autosomal recessive genetic disorder caused by mutations in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by calcification and narrowing of medium- and large-sized arteries, resulting in cardiovascular complications." }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "ENPP1 arterial calcification of infancy", "description": "" }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "arterial calcification of infancy caused by mutation in ENPP1", "description": "" }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "arterial calcification, generalized, of infancy, 1", "description": "" }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "arterial calcification, generalized, of infancy, type 1", "description": "" }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "generalised arterial calcification of infancy 1", "description": "" }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "generalized arterial calcification of infancy 1", "description": "" }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "GACI1", "description": "" }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "Gaci", "description": "" }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "arterial calcification, idiopathic infantile", "description": "" }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "arteriopathy, occlusive infantile", "description": "" }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "coronary sclerosis, medial, of infancy", "description": "" }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "idiopathic infantile arterial calcification", "description": "" }, { "id": "MIM:614473", "resource": "MIM", "url": "https://www.omim.org/entry/614473", "name": "Arterial calcification of infancy, generalized, 2", "description": "Arterial calcification of infancy, generalized, 2" }, { "id": "MIM:208000", "resource": "MIM", "url": "https://www.omim.org/entry/208000", "name": "Arterial calcification of infancy, generalized, 1", "description": "Arterial calcification of infancy, generalized, 1" } ] }, { "disease_id": "DOID:2738", "recommended_name": { "id": "DOID:2738", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2738", "name": "pseudoxanthoma elasticum", "description": "A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system." }, "synonyms": [ { "id": "DOID:2738", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2738", "name": "Gronblad-Strandberg syndrome", "description": "" }, { "id": "MONDO:0008333", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008333", "name": "pseudoxanthoma elasticum, forme fruste", "description": "An autosomal dominant form of PXE." }, { "id": "MONDO:0008333", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008333", "name": "pseudoxanthoma elasticum, forme fruste", "description": "" }, { "id": "MONDO:0008333", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008333", "name": "pseudoxanthoma elasticum, heterozygous", "description": "" }, { "id": "MONDO:0009925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009925", "name": "autosomal recessive inherited pseudoxanthoma elasticum", "description": "An autosomal recessive form of PXE." }, { "id": "MONDO:0009925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009925", "name": "AR inherited pseudoxanthoma elasticum", "description": "" }, { "id": "MONDO:0009925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009925", "name": "Gronblad-Strandberg syndrome", "description": "" }, { "id": "MONDO:0009925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009925", "name": "Gronblad-Strandberg-Touraine syndrome", "description": "" }, { "id": "MONDO:0009925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009925", "name": "PXE", "description": "" }, { "id": "MONDO:0009925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009925", "name": "Gronblad Strandberg syndrome", "description": "" }, { "id": "MONDO:0009925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009925", "name": "PXE, modifier of severity of", "description": "" }, { "id": "MONDO:0009925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009925", "name": "pseudoxanthoma elasticum", "description": "" }, { "id": "MONDO:0009925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009925", "name": "pseudoxanthoma elasticum, modifier of severity of", "description": "" }, { "id": "MIM:264800", "resource": "MIM", "url": "https://www.omim.org/entry/264800", "name": "Pseudoxanthoma elasticum", "description": "Pseudoxanthoma elasticum" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1329119665", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1329119665" }, { "id": "rs1329119665", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1329119665" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 580, "end_pos": 580, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKA->NKT).", "chr_id": "16", "chr_pos": "16188872", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A580", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O95255", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95255" } ], "glycoeffect": [], "start_pos": 614, "end_pos": 614, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "A", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "16187150", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "V614", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs371997398", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371997398" }, { "id": "rs371997398", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371997398" }, { "id": "rs371997398", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371997398#frequency_tab" }, { "id": "rs371997398", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371997398" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 618, "end_pos": 618, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "16", "chr_pos": "16187138", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S618", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs140013237", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140013237" }, { "id": "rs140013237", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140013237" }, { "id": "rs140013237", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs140013237#frequency_tab" }, { "id": "rs140013237", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140013237" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 712, "end_pos": 712, "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVC->NVS).", "chr_id": "16", "chr_pos": "16182525", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C712", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O95255", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95255" }, { "id": "rs778911783", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778911783" }, { "id": "rs778911783", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778911783" }, { "id": "rs778911783", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778911783" }, { "id": "rs778911783", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778911783" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 898, "end_pos": 898, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DRT->NRT).", "chr_id": "16", "chr_pos": "16173379", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D898", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs906122272", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs906122272" }, { "id": "rs906122272", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs906122272#frequency_tab" }, { "id": "rs906122272", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs906122272" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 931, "end_pos": 931, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KAT->NAT).", "chr_id": "16", "chr_pos": "16169848", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K931", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "89.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000091262", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091262" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "42.09", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000091262", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091262" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "71.59", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000091262", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091262" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000091262", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091262" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "66.4", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000091262", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091262" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "80.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000091262", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091262" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000091262", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091262" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "53.16", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000091262", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091262" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "76.48", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000091262", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091262" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "68.27", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000091262", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091262" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "95.72", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000091262", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091262" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "70.93", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000091262", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091262" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "67.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000091262", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091262" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95255", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95255" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95255", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95255" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O95255", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95255" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O95255", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95255" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O95255", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95255" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O95255", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95255" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95255", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95255" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O95255", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95255" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O95255", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95255" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O95255", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95255" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O95255", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95255" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O95255", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95255" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "common_name": "Human" } ], "gene": [ { "name": "ABCC6", "url": "https://www.uniprot.org/uniprot/O95255", "locus": { "chromosome": "16", "start_pos": 16149565, "end_pos": 16223522, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000091262", "url": "https://www.ensembl.org/id/ENSG00000091262" } ] } } ], "crossref": [ { "id": "ENSG00000091262", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091262", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O95255", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95255", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "7.6.2.3", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=7.6.2.3&UniProtAcc=O95255", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd03244", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd03244", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd03250", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd03250", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd18595", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd18595", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd18603", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd18603", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL2073661", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL2073661", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "ABCC6", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC6", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "368", "url": "https://www.ncbi.nlm.nih.gov/gene/368", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "57", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=57", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O95255", "url": "https://www.ebi.ac.uk/intact/interactors/id:O95255*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR003439", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003439", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003593", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003593", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR005292", "url": "https://www.ebi.ac.uk/interpro/entry/IPR005292", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011527", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011527", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017871", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017871", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR027417", "url": "https://www.ebi.ac.uk/interpro/entry/IPR027417", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036640", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036640", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "264800", "url": "http://www.omim.org/entry/264800", "database": "MIM", "categories": [ "Other" ] }, { "id": "603234", "url": "http://www.omim.org/entry/603234", "database": "MIM", "categories": [ "Other" ] }, { "id": "614473", "url": "http://www.omim.org/entry/614473", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O95255", "url": "https://www.nextprot.org/entry/NX_O95255", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O95255", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95255", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "QELDLPW", "url": "https://omabrowser.org/oma/group/QELDLPW/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3384185at2759", "url": "http://www.orthodb.org/?query=3384185at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24223", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24223", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24223:SF339", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24223:SF339", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "6BZR", "url": "https://www.rcsb.org/structure/6BZR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6BZS", "url": "https://www.rcsb.org/structure/6BZS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6NLO", "url": "https://www.rcsb.org/structure/6NLO", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6P7F", "url": "https://www.rcsb.org/structure/6P7F", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00005", "url": "http://pfam.xfam.org/family/PF00005", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00664", "url": "http://pfam.xfam.org/family/PF00664", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O95255", "url": "https://pharos.nih.gov/targets/O95255", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O95255", "url": "http://purl.obolibrary.org/obo/PR_O95255", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5690338", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5690338", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001072996", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072996", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "19121", "url": "https://www.rhea-db.org/rhea/19121", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "38963", "url": "https://www.rhea-db.org/rhea/38963", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A0G2JMG3", "url": "https://www.uniprot.org/uniprot/A0A0G2JMG3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JMG3-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JMG3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0J9YVW5", "url": "https://www.uniprot.org/uniprot/A0A0J9YVW5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0J9YVW5-1", "url": "https://www.uniprot.org/uniprot/A0A0J9YVW5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PPQ8", "url": "https://www.uniprot.org/uniprot/A0A1W2PPQ8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PPQ8-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PPQ8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HJ04", "url": "https://www.uniprot.org/uniprot/A0A804HJ04", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HJ04-1", "url": "https://www.uniprot.org/uniprot/A0A804HJ04-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8C8Q0G8", "url": "https://www.uniprot.org/uniprot/A0A8C8Q0G8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8C8Q0G8-1", "url": "https://www.uniprot.org/uniprot/A0A8C8Q0G8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L1Z6", "url": "https://www.uniprot.org/uniprot/I3L1Z6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L1Z6-1", "url": "https://www.uniprot.org/uniprot/I3L1Z6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95255-1", "url": "https://www.uniprot.org/uniprot/O95255-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95255-2", "url": "https://www.uniprot.org/uniprot/O95255-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95255-3", "url": "https://www.uniprot.org/uniprot/O95255-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAAPAEPCAGQGVWNQTEPEPAATSLLSLCFLRTAGVWVPPMYLWVLGPIYLLFIHHHGRGYLRMSPLFKAKMVLGFALIVLCTSSVAVALWKIQQGTPEAPEFLIHPTVWLTTMSFAVFLIHTERKKGVQSSGVLFGYWLLCFVLPATNAAQQASGAGFQSDPVRHLSTYLCLSLVVAQFVLSCLADQPPFFPEDPQQSNPCPETGAAFPSKATFWWVSGLVWRGYRRPLRPKDLWSLGRENSSEELVSRLEKEWMRNRSAARRHNKAIAFKRKGGSGMKAPETEPFLRQEGSQWRPLLKAIWQVFHSTFLLGTLSLIISDVFRFTVPKLLSLFLEFIGDPKPPAWKGYLLAVLMFLSACLQTLFEQQNMYRLKVLQMRLRSAITGLVYRKVLALSSGSRKASAVGDVVNLVSVDVQRLTESVLYLNGLWLPLVWIVVCFVYLWQLLGPSALTAIAVFLSLLPLNFFISKKRNHHQEEQMRQKDSRARLTSSILRNSKTIKFHGWEGAFLDRVLGIRGQELGALRTSGLLFSVSLVSFQVSTFLVALVVFAVHTLVAENAMNAEKAFVTLTVLNILNKAQAFLPFSIHSLVQARVSFDRLVTFLCLEEVDPGVVDSSSSGSAAGKDCITIHSATFAWSQESPPCLHRINLTVPQGCLLAVVGPVGAGKSSLLSALLGELSKVEGFVSIEGAVAYVPQEAWVQNTSVVENVCFGQELDPPWLERVLEACALQPDVDSFPEGIHTSIGEQGMNLSGGQKQRLSLARAVYRKAAVYLLDDPLAALDAHVGQHVFNQVIGPGGLLQGTTRILVTHALHILPQADWIIVLANGAIAEMGSYQELLQRKGALMCLLDQARQPGDRGEGETEPGTSTKDPRGTSAGRRPELRRERSIKSVPEKDRTTSEAQTEVPLDDPDRAGWPAGKDSIQYGRVKATVHLAYLRAVGTPLCLYALFLFLCQQVASFCRGYWLSLWADDPAVGGQQTQAALRGGIFGLLGCLQAIGLFASMAAVLLGGARASRLLFQRLLWDVVRSPISFFERTPIGHLLNRFSKETDTVDVDIPDKLRSLLMYAFGLLEVSLVVAVATPLATVAILPLFLLYAGFQSLYVVSSCQLRRLESASYSSVCSHMAETFQGSTVVRAFRTQAPFVAQNNARVDESQRISFPRLVADRWLAANVELLGNGLVFAAATCAVLSKAHLSAGLVGFSVSAALQVTQTLQWVVRNWTDLENSIVSVERMQDYAWTPKEAPWRLPTCAAQPPWPQGGQIEFRDFGLRYRPELPLAVQGVSFKIHAGEKVGIVGRTGAGKSSLASGLLRLQEAAEGGIWIDGVPIAHVGLHTLRSRISIIPQDPILFPGSLRMNLDLLQEHSDEAIWAALETVQLKALVASLPGQLQYKCADRGEDLSVGQKQLLCLARALLRKTQILILDEATAAVDPGTELQMQAMLGSWFAQCTVLLIAHRLRSVMDCARVLVMDKGQVAESGSPAQLLAQKGLFYRLAQESGLV", "length": 1503, "header": "sp|O95255-1|MRP6_HUMAN Isoform 1 of ATP-binding cassette sub-family C member 6 OS=Homo sapiens OX=9606 GN=ABCC6 PE=1 SV=2 CANONICAL=O95255-1" }, "isoforms": [ { "isoform_ac": "A0A0G2JMG3-1", "url": "", "sequence": { "sequence": "MAAPAEPCAGQGVWNQTEPEPAATSLLSLCFLRTAGVWVPPMYLWVLGPIYLLFIHHHGRGYLRMSPLFKAKMVLGFALIVLCTSSVAVALWKIQQGTPEAPEFLIHPTVWLTTMSFAVFLIHTERKKGVQSSGVLFGYWLLCFVLPATNAAQQASGAGFQSDPVRHLSTYLCLSLVVAQFVLSCLADQPPFFPEDPQQSNPCPETGAAFPSKATFWWVSGLVWRGYRRPLRPKDLWSLGRENSSEELVSRLEKEWMRNRSAARRHNKAIAFKRKGGSGMKAPETEPFLRQEGSQWRPLLKAIWQVFHSTFLLGTLSLIISDVFRFTVPKLLSLFLEFIGDPKPPAWKGYLLAVLMFLSACLQTLFEQQNMYRLKVLQMRLRSAITGLVYRKVLALSSGSRKASAVGDVVNLVSVDVQRLTESVLYLNGLWLPLVWIVVCFVYLWQLLGPSALTAIAVFLSLLPLNFFISKKRNHHQEEQMRQKDSRARLTSSILRNSKTIKFHGWEGAFLDRVLGIRGQELGALRTSGLLFSVSLVSFQVSTFLVALVVFAVHTLVAENAMNAEKAFVTLTVLNILNKAQAFLPFSIHSLVQARVSFDRLVTFLCLEEVDPGAVDSSSSGSAAGKDCITIQSATFAWSQESPPCLHRINLTVPQGCLLAVVGPVGAGKSSLLSALLGELSKVEGFVSIEGAVAYVPQEAWVQNTSVVENVCFGQELDPPWLERVLEACALQPDVDSFPEGIHTSIGEQGMNLSGGQKQRLSLARAVYRKAAVYLLDDPLAALDAHVGQHVFNQVIGPGGLLQGTTRILVTHALHILPQADWIIVLANGAIAEMGSYQELLQRKGALVCLLDQARQPGDRGEGETEPGTSTKDPRGTSAGRRPELRRERSIKSVPEKDRTTSEAQTEVPLDDPDRAGWPAGKDSIQYGRVKATVHLAYLRAVGTPLCLYALFLFLCQQVASFCRGYWLSLWADDPAVGGQQTQAALRGGIFGLLGCLQAIGLFASMAAVLLGGARASRLLFQRLLWDVVRSPISFFERTPIGHLLNRFSKETDTVDVDIPDKLRSLLMYAFGLLEVSLVVAVATPLATVAILPLFLLYAGFQSLYVVSSCQLRRLESASYSSVCSHMAETFQGSTVVRAFRTQAPFVAQNNARVDESQRISFPRLVADRWLAANVELLGNGLVFAAATCAVLSKAHLSAGLVGFSVSAALQVTQTLQWVVRNWTDLENSIVSVERMQDYAWTPKEAPWRLPTCAAQPPWPQGGQIEFQDFGLRYRPELPLAVQGVSFKIHAGEKVGIVGRTGAGKSSLASGLLRLQEAAEGGIWIDGVPIAHVGLHTLRSRISIIPQDPILFPGSLRMNLDLLQEHSDEAIWAALETVQLKALVASLPGQLQYKCADRGEDLSVGQKQLLCLARALLRKTQILILDEATAAVDPGTELQMQAMLGSWFAQCTVLLIAHRLRSVMDCARVLVMDKGQVAESGSPAQLLAQKGLFYRLAQESGLV", "length": 1503, "header": "tr|A0A0G2JMG3-1|A0A0G2JMG3_HUMAN Computationally mapped isoform of ABC-type glutathione-S-conjugate transporter OS=Homo sapiens OX=9606 GN=ABCC6 PE=1 SV=1 CANONICAL=O95255-1" }, "locus": { "chromosome": "HSCHR16_1_CTG1", "start_pos": 1881429, "end_pos": 1808062, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000620078.4", "url": "https://www.ensembl.org/id/ENST00000620078.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000479163.1", "url": "https://www.ensembl.org/id/ENSP00000479163.1" } ] } }, { "isoform_ac": "A0A0J9YVW5-1", "url": "", "sequence": { "sequence": "MAAPAEPCAGQGVWNQTEPEPAATSLLSLCFLRTAGVWVPPMYLWVLGPIYLLFIHHHGRGYLRMSPLFKAKMVLGFALIVLCTSSVAVALWKIQQGTPEAPEFLIHPTVWLTTMSFAVFLIHTERKKGVQSSGVLFGYWLLCFVLPATNAAQQASGAGFQSDPVRHLSTYLCLSLVVAQFVLSCLADQPPFFPEDPQQSNPCPETGAAFPSKATFWWVSGLVWRGYRRPLRPKDLWSLGRENSSEELVSRLEKEWMRNRSAARRHNKAIAFKRKGGSGMKAPETEPFLRQEGSQWRPLLKAIWQVFHSTFLLGTLSLIISDVFRFTVPKLLSLFLEFIGDPKPPAWKGYLLAVLMFLSACLQTLFEQQNMYRLKVLQMRLRSAITGLVYRKVLALSSGSRKASAVGDVVNLVSVDVQRLTESVLYLNGLWLPLVWIVVCFVYLWQLLGPSALTAIAVFLSLLPLNFFISKKRNHHQEEQMRQKDSRARLTSSILRNSKTIKFHGWEGAFLDRVLGIRGQELGALRTSGLLFSVSLVSFQVSTFLVALVVFAVHTLVAENAMNAEKAFVTLTVLNILNKAQAFLPFSIHSLVQARVSFDRLVTFLCLEEVDPGAVDSSSSGSAAGKDCITIQSATFAWSQESPPCLHRINLTVPQGCLLAVVGPVGAGKSSLLSALLGELSKVEGFVSIEGAVAYVPQEAWVQNTSVVENVCFGQELDPPWLERVLEACALQPDVDSFPEGIHTSIGEQGMNLSGGQKQRLSLARAVYRKAAVYLLDDPLAALDAHVGQHVFNQVIGPGGLLQGTKQNLGPAPRTPEAPLQAGGPSLDARGPSSQSLRRTVPLQKPRQRFLWMTLTGQDGQQERTASNTAG", "length": 871, "header": "tr|A0A0J9YVW5-1|MRP6_HUMAN Computationally mapped isoform of ATP-binding cassette sub-family C member 6 OS=Homo sapiens OX=9606 GN=ABCC6 PE=1 SV=1 CANONICAL=O95255-1" }, "locus": { "chromosome": "HSCHR16_1_CTG1", "start_pos": 1881429, "end_pos": 1827959, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000633611.1", "url": "https://www.ensembl.org/id/ENST00000633611.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000487705.1", "url": "https://www.ensembl.org/id/ENSP00000487705.1" } ] } }, { "isoform_ac": "A0A1W2PPQ8-1", "url": "", "sequence": { "sequence": "PSPAIGLFASMAAVLLGGARASRLLFQRLLWDVVRSPISFFERTPIGHLLNRFSKETDTVDVDIPDKLRSLLMYAFGLLEVSLVVAVATPLPLWPSCHCFSSTLGFRWLAANVELLGNGLVFAAATCAVLSKAHLSAGLVGFSVSAALQVTQTLQWVVRNWTDLENSIVSVERMQDYAWTPKEAPWRLPTCAAQPPWPQGGQIEFQDFGLRYRPELPLAVQGVSFKIHAGEKVGIVGRTGAGKSSLASGLLRLQEAAEGGIWIDGVPIAHVGLHTLRSRISIIPQDPILFPGSLRMNLDLLQEHSDEAIWAALETVQLKALVASLPGQLQYKCADRGEDLSVGQKQLLCLARALLRKTQILILDEATAAVDPGTELQMQAMLGSWFAQCTVLLIAHRLRSVMDCARVLVMDKGQVAESGSPAQLLAQKGLFYRLAQESGLV", "length": 441, "header": "tr|A0A1W2PPQ8-1|MRP6_HUMAN Computationally mapped isoform of ATP-binding cassette sub-family C member 6 OS=Homo sapiens OX=9606 GN=ABCC6 PE=1 SV=1 CANONICAL=O95255-1" }, "locus": { "chromosome": "HSCHR16_1_CTG1", "start_pos": 1823873, "end_pos": 1808062, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638420.1", "url": "https://www.ensembl.org/id/ENST00000638420.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491278.1", "url": "https://www.ensembl.org/id/ENSP00000491278.1" } ] } }, { "isoform_ac": "A0A804HJ04-1", "url": "", "sequence": { "sequence": "MAAPAEPCAGQGVWNQTEPEPAATSLLSLCFLRTAGVWVPPMYLWVLGPIYLLFIHHHGRGYLRMSPLFKAKMVLGFALIVLCTSSVAVALWKIQQGTPEAPEFLIHPTVWLTTMSFAVFLIHTERKKGVQSSGVLFGYWLLCFVLPATNAAQQASGAGFQSDPVRHLSTYLCLSLVVAQFVLSCLADQPPFFPEDPQQSNPCPETGAAFPSKATFWWVSGLVWRGYRRPLRPKDLWSLGRENSSEELVSRLEKEWMRNRSAARRHNKAIAFKRKGGSGMKAPETEPFLRQEGSQWRPLLKAIWQVFHSTFLLGTLSLIISDVFRFTVPKLLSLFLEFIGDPKPPAWKGYLLAVLMFLSACLQTLFEQQNMYRLKVLQMRLRSAITGLVYRKVLALSSGSRKASAVGDVVNLVSVDVQRLTESVLYLNGLWLPLVWIVVCFVYLWQLLRRLRQENRLGSRGCSEPRS", "length": 467, "header": "tr|A0A804HJ04-1|A0A804HJ04_HUMAN Computationally mapped isoform of ATP binding cassette subfamily C member 6 OS=Homo sapiens OX=9606 GN=ABCC6 PE=1 SV=1 CANONICAL=O95255-1" }, "locus": { "chromosome": "16", "start_pos": 16223434, "end_pos": 16194753, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000574094.6", "url": "https://www.ensembl.org/id/ENST00000574094.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000507301.1", "url": "https://www.ensembl.org/id/ENSP00000507301.1" } ] } }, { "isoform_ac": "A0A8C8Q0G8-1", "url": "", "sequence": { "sequence": "MAAPAEPCAGQGVWNQTEPEPAATSLLSLCFLRTAGVWVPPMYLWVLGPIYLLFIHHHGRGYLRMSPLFKAKMVLGFALIVLCTSSVAVALWKIQQGTPEAPEFLIHPTVWLTTMSFAVFLIHTERKKGVQSSGVLFGYWLLCFVLPATNAAQQASGAGFQSDPVRHLSTYLCLSLVVAQFVLSCLADQPPFFPEDPQQSNPCPETGAAFPSKATFWWVSGLVWRGYRRPLRPKDLWSLGRENSSEELVSRLEKEWMRNRSAARRHNKAIAFKRKGGSGMKAPETEPFLRQEGSQWRPLLKAIWQVFHSTFLLGTLSLIISDVFRFTVPKLLSLFLEFIGDPKPPAWKGYLLAVLMFLSACLQTLFEQQNMYRLKVLQMRLRSAITGLVYRKVLALSSGSRKASAVGDVVNLVSVDVQRLTESVLYLNGLWLPLVWIVVCFVYLWQLLGPSALTAIAVFLSLLPLNFFISKKRNHHQEEQMRQKDSRARLTSSILRNSKTIKFHGWEGAFLDRVLGIRGQELGALRTSGLLFSVSLVSFQVSTFLVALVVFAVHTLVAENAMNAEKAFVTLTVLNILNKAQAFLPFSIHSLVQARVSFDRLVTFLCLEEVDPGVVDSSSSGSAAGKDCITIHSATFAWSQESPPCLHRINLTVPQGCLLAVVGPVGAGKSSLLSALLGELSKVEGFVSIEGAVAYVPQEAWVQNTSVVENVCFGQELDPPWLERVLEACALQPDVDSFPEGIHTSIGEQGMNLSGGQKQRLSLARAVYRKAAVYLLDDPLAALDAHVGQHVFNQVIGPGGLLQGTTRILVTHALHILPQADWIIVLANGAIAEMGSYQELLQRKGALMCLLDQARQPGDRGEGETEPGTSTKDPRGTSAGRRPELRRERSIKSVPEKDRTTSEAQTEVPLDDPDRAGWPAGKDSIQYGRVKATVHLAYLRAVGTPLCLYALFLFLCQQVASFCRGYWLSLWADDPAVGGQQTQAALRGGIFGLLGCLQAIGLFASMAAVLLGGARASRLLFQRLLWDVVRSPISFFERTPIGHLLNRFSKETDTVDVDIPDKLRSLLMYAFGLLEVSLVVAVATPLATVAILPLFLLYAGFQSLYVVSSCQLRRLESASYSSVCSHMAETFQGSTVVRAFRTQAPFVAQNNARVDESQRISFPRLVADRWLAANVELLGNGLVFAAATCAVLSKAHLSAGLVGFSVSAALQVTQTLQWVVRNWTDLENSIVSVERMQDYAWTPKEAPWRLPTCAAQPPWPQGGQIEFRDFGLRYRPELPLAVQGVSFKIHAGEKTG", "length": 1296, "header": "tr|A0A8C8Q0G8-1|MRP6_HUMAN Computationally mapped isoform of ATP-binding cassette sub-family C member 6 OS=Homo sapiens OX=9606 GN=ABCC6 PE=1 SV=1 CANONICAL=O95255-1" }, "locus": { "chromosome": "16", "start_pos": 16223434, "end_pos": 16155849, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000622290.5", "url": "https://www.ensembl.org/id/ENST00000622290.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000483331.2", "url": "https://www.ensembl.org/id/ENSP00000483331.2" } ] } }, { "isoform_ac": "I3L1Z6-1", "url": "", "sequence": { "sequence": "MAAPAEPCAGQGVWNQTEPEPAATSLLSLCFLRTAGVWVPPMYLWVLGPIYLLFIHHHGRGYLRMSPLFKAKMRNQNILERP", "length": 82, "header": "tr|I3L1Z6-1|I3L1Z6_HUMAN Computationally mapped isoform of ATP-binding cassette sub-family C member 6 OS=Homo sapiens OX=9606 GN=ABCC6 PE=4 SV=1 CANONICAL=O95255-1" }, "locus": { "chromosome": "16", "start_pos": 16223434, "end_pos": 16220362, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000577103.1", "url": "https://www.ensembl.org/id/ENST00000577103.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000459243.1", "url": "https://www.ensembl.org/id/ENSP00000459243.1" } ] } }, { "isoform_ac": "O95255-1", "url": "", "sequence": { "sequence": "MAAPAEPCAGQGVWNQTEPEPAATSLLSLCFLRTAGVWVPPMYLWVLGPIYLLFIHHHGRGYLRMSPLFKAKMVLGFALIVLCTSSVAVALWKIQQGTPEAPEFLIHPTVWLTTMSFAVFLIHTERKKGVQSSGVLFGYWLLCFVLPATNAAQQASGAGFQSDPVRHLSTYLCLSLVVAQFVLSCLADQPPFFPEDPQQSNPCPETGAAFPSKATFWWVSGLVWRGYRRPLRPKDLWSLGRENSSEELVSRLEKEWMRNRSAARRHNKAIAFKRKGGSGMKAPETEPFLRQEGSQWRPLLKAIWQVFHSTFLLGTLSLIISDVFRFTVPKLLSLFLEFIGDPKPPAWKGYLLAVLMFLSACLQTLFEQQNMYRLKVLQMRLRSAITGLVYRKVLALSSGSRKASAVGDVVNLVSVDVQRLTESVLYLNGLWLPLVWIVVCFVYLWQLLGPSALTAIAVFLSLLPLNFFISKKRNHHQEEQMRQKDSRARLTSSILRNSKTIKFHGWEGAFLDRVLGIRGQELGALRTSGLLFSVSLVSFQVSTFLVALVVFAVHTLVAENAMNAEKAFVTLTVLNILNKAQAFLPFSIHSLVQARVSFDRLVTFLCLEEVDPGVVDSSSSGSAAGKDCITIHSATFAWSQESPPCLHRINLTVPQGCLLAVVGPVGAGKSSLLSALLGELSKVEGFVSIEGAVAYVPQEAWVQNTSVVENVCFGQELDPPWLERVLEACALQPDVDSFPEGIHTSIGEQGMNLSGGQKQRLSLARAVYRKAAVYLLDDPLAALDAHVGQHVFNQVIGPGGLLQGTTRILVTHALHILPQADWIIVLANGAIAEMGSYQELLQRKGALMCLLDQARQPGDRGEGETEPGTSTKDPRGTSAGRRPELRRERSIKSVPEKDRTTSEAQTEVPLDDPDRAGWPAGKDSIQYGRVKATVHLAYLRAVGTPLCLYALFLFLCQQVASFCRGYWLSLWADDPAVGGQQTQAALRGGIFGLLGCLQAIGLFASMAAVLLGGARASRLLFQRLLWDVVRSPISFFERTPIGHLLNRFSKETDTVDVDIPDKLRSLLMYAFGLLEVSLVVAVATPLATVAILPLFLLYAGFQSLYVVSSCQLRRLESASYSSVCSHMAETFQGSTVVRAFRTQAPFVAQNNARVDESQRISFPRLVADRWLAANVELLGNGLVFAAATCAVLSKAHLSAGLVGFSVSAALQVTQTLQWVVRNWTDLENSIVSVERMQDYAWTPKEAPWRLPTCAAQPPWPQGGQIEFRDFGLRYRPELPLAVQGVSFKIHAGEKVGIVGRTGAGKSSLASGLLRLQEAAEGGIWIDGVPIAHVGLHTLRSRISIIPQDPILFPGSLRMNLDLLQEHSDEAIWAALETVQLKALVASLPGQLQYKCADRGEDLSVGQKQLLCLARALLRKTQILILDEATAAVDPGTELQMQAMLGSWFAQCTVLLIAHRLRSVMDCARVLVMDKGQVAESGSPAQLLAQKGLFYRLAQESGLV", "length": 1503, "header": "sp|O95255-1|MRP6_HUMAN Isoform 1 of ATP-binding cassette sub-family C member 6 OS=Homo sapiens OX=9606 GN=ABCC6 PE=1 SV=2 CANONICAL=O95255-1" }, "locus": { "chromosome": "16", "start_pos": 16223434, "end_pos": 16150136, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000205557.12", "url": "https://www.ensembl.org/id/ENST00000205557.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000205557.7", "url": "https://www.ensembl.org/id/ENSP00000205557.7" } ] } }, { "isoform_ac": "O95255-2", "url": "", "sequence": { "sequence": "MAAPAEPCAGQGVWNQTEPEPAATSLLSLCFLRTAGVWVPPMYLWVLGPIYLLFIHHHGRGYLRMSPLFKAKMVAAIPGSLEPGNVRGRQGTGWNLVKS", "length": 99, "header": "sp|O95255-2|MRP6_HUMAN Isoform 2 of ATP-binding cassette sub-family C member 6 OS=Homo sapiens OX=9606 GN=ABCC6 PE=1 SV=2 CANONICAL=O95255-1" }, "locus": { "chromosome": "16", "start_pos": 16223434, "end_pos": 16221571, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000575728.1", "url": "https://www.ensembl.org/id/ENST00000575728.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000461686.1", "url": "https://www.ensembl.org/id/ENSP00000461686.1" } ] } }, { "isoform_ac": "O95255-3", "url": "", "sequence": { "sequence": "MAAPAEPCAGQGVWNQTEPEPAATSLLSLCFLRTAGVWVPPMYLWVLGPIYLLFIHHHGRGYLRMSPLFKAKMVLGFALIVLCTSSVAVALWKIQQGTPEAPEFLIHPTVWLTTMSFAVFLIHTERKKGVQSSGVLFGYWLLCFVLPATNAAQQASGAGFQSDPVRHLSTYLCLSLVVAQFVLSCLADQPPFFPEDPQQSNPCPETGAAFPSKATFWWVSGLVWRGYRRPLRPKDLWSLGRENSSEELVSRLEKEWMRNRSAARRHNKAIAFKRKGGSGMKAPETEPFLRQEGSQWRPLLKAIWQVFHSTFLLGTLSLIISDVFRFTVPKLLSLFLEFIGDPKPPAWKGYLLAVLMFLSACLQTLFEQQNMYRLKVLQMRLRSAITGLVYRKVLALSSGSRKASAVGDVVNLVSVDVQRLTESVLYLNGLWLPLVWIVVCFVYLWQLLGPSALTAIAVFLSLLPLNFFISKKRNHHQEEQMRQKDSRARLTSSILRNSKTIKFHGWEGAFLDRVLGIRGQELGALRTSGLLFSVSLVSFQVSTFLVALVVFAVHTLVAENAMNAEKAFVTLTVLNILNKAQAFLPFSIHSLVQARVSFDRLVTFLCLEEVDPGVVDSSSSGSAAGKDCITIHSATFAWSQESPPCLHRINLTVPQGCLLAVVGPVGAGKSSLLSALLGELSKVEGFVSIEGAVAYVPQEAWVQNTSVVENVCFGQELDPPWLERVLEACALQPDVDSFPEGIHTSIGEQGMNLSGGQKQRLSLARAVYRKAAVYLLDDPLAALDAHVGQHVFNQVIGPGGLLQGTKQNLGPAPRTPEAPLQAGGPSLDARGPSSQSLRRTVPLQKPRQRFLWMTLTGQDGQQERTASNTAG", "length": 871, "header": "sp|O95255-3|MRP6_HUMAN Isoform 3 of ATP-binding cassette sub-family C member 6 OS=Homo sapiens OX=9606 GN=ABCC6 PE=1 SV=2 CANONICAL=O95255-1" }, "locus": { "chromosome": "16", "start_pos": 16223434, "end_pos": 16169853, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000456970.6", "url": "https://www.ensembl.org/id/ENST00000456970.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000405002.2", "url": "https://www.ensembl.org/id/ENSP00000405002.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 15, "start_aa": "Asn", "end_pos": 15, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn15", "evidence": [ { "id": "O95255", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95255#ptm_processing" }, { "id": "12901863", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/12901863" }, { "id": "12901863", "database": "Automatic Literature Mining", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/12901863" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O95255", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95255" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 1286, "end_pos": 1286, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O95255", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95255" } ], "site_lbl": "Ser1286" }, { "start_pos": 278, "end_pos": 278, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95255", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95255" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser278" }, { "start_pos": 902, "end_pos": 902, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95255", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95255" }, { "database": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" } ], "site_lbl": "Ser902" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "MOAT-E (ARA) is a full-length MRP/cMOAT subfamily transporter expressed in kidney and liver.", "journal": "Br. J. Cancer", "date": "1999", "authors": "Belinsky MG, Kruh GD", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "reference": [ { "type": "PubMed", "id": "10424734", "url": "https://glygen.org/publication/PubMed/10424734" } ] }, { "title": "Profound differences in the transport of steroids by two mouse P-glycoproteins.", "journal": "Biochemical pharmacology", "date": "1999", "authors": "Gruol DJ, Vo QD, Zee MC", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "10484077", "url": "https://glygen.org/publication/PubMed/10484077" } ] }, { "title": "Interaction of docetaxel (`Taxotere`) with human P-glycoprotein.", "journal": "Japanese journal of cancer research : Gann", "date": "1999", "authors": "Shirakawa K, Takara K, Tanigawara Y, Aoyama N, Kasuga M, Komada F, Sakaeda T, Okumura K", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "10665657", "url": "https://glygen.org/publication/PubMed/10665657" } ] }, { "title": "Characterization of ABCB9, an ATP binding cassette protein associated with lysosomes.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Zhang F, Zhang W, Liu L, Fisher CL, Hui D, Childs S, Dorovini-Zis K, Ling V", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "10748049", "url": "https://glygen.org/publication/PubMed/10748049" } ] }, { "title": "Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Ringpfeil F, Lebwohl MG, Christiano AM, Uitto J", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "reference": [ { "type": "PubMed", "id": "10811882", "url": "https://glygen.org/publication/PubMed/10811882" } ] }, { "title": "Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.", "journal": "Nature genetics", "date": "2000", "authors": "Le Saux O, Urban Z, Tschuch C, Csiszar K, Bacchelli B, Quaglino D, Pasquali-Ronchetti I, Pope FM, Richards A, Terry S, Bercovitch L, de Paepe A, Boyd CD", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" }, { "database": "Reactome", "id": "R-HSA-5690338", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5690338" } ], "reference": [ { "type": "PubMed", "id": "10835642", "url": "https://glygen.org/publication/PubMed/10835642" } ] }, { "title": "Homozygosity for the R1268Q mutation in MRP6, the pseudoxanthoma elasticum gene, is not disease-causing.", "journal": "Biochemical and biophysical research communications", "date": "2000", "authors": "Germain DP, Perdu J, Remones V, Jeunemaitre X", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "reference": [ { "type": "PubMed", "id": "10913334", "url": "https://glygen.org/publication/PubMed/10913334" } ] }, { "title": "Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum.", "journal": "Journal of molecular medicine (Berlin, Germany)", "date": "2000", "authors": "Struk B, Cai L, Zach S, Ji W, Chung J, Lumsden A, Stumm M, Huber M, Schaen L, Kim CA, Goldsmith LA, Viljoen D, Figuera LE, Fuchs W, Munier F, Ramesar R, Hohl D, Richards R, Neldner KH, Lindpaintner K", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "reference": [ { "type": "PubMed", "id": "10954200", "url": "https://glygen.org/publication/PubMed/10954200" } ] }, { "title": "Identification of two polymorphisms (c189G>C; c190T>C) in exon 2 of the human MRP6 gene (ABCC6) by screening of Pseudoxanthoma elasticum patients: possible sequence correction?", "journal": "Hum. Mutat.", "date": "2000", "authors": "Germain D P, Remones V, Perdu J, Jeunemaitre X", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "reference": [ { "type": "PubMed", "id": "11058917", "url": "https://glygen.org/publication/PubMed/11058917" } ] }, { "title": "Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface?", "journal": "Trends in molecular medicine", "date": "2001", "authors": "Uitto J, Pulkkinen L, Ringpfeil F", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "reference": [ { "type": "PubMed", "id": "11427982", "url": "https://glygen.org/publication/PubMed/11427982" } ] }, { "title": "A cellular gene up-regulated by hepatitis B virus-encoded X antigen promotes hepatocellular growth and survival.", "journal": "Hepatology", "date": "2001", "authors": "Lian Z, Liu J, Pan J, Satiroglu Tufan N L, Zhu M, Arbuthnot P, Kew M, Clayton M M, Feitelson M A", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "reference": [ { "type": "PubMed", "id": "11431746", "url": "https://glygen.org/publication/PubMed/11431746" } ] }, { "title": "Kinetics of P-glycoprotein-mediated efflux of paclitaxel.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "2001", "authors": "Jang SH, Wientjes MG, Au JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "11504826", "url": "https://glygen.org/publication/PubMed/11504826" } ] }, { "title": "A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.", "journal": "American journal of human genetics", "date": "2001", "authors": "Le Saux O, Beck K, Sachsinger C, Silvestri C, Treiber C, Goring HH, Johnson EW, De Paepe A, Pope FM, Pasquali-Ronchetti I, Bercovitch L, Marais AS, Viljoen DL, Terry SF, Boyd CD", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" }, { "database": "Reactome", "id": "R-HSA-5690338", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5690338" } ], "reference": [ { "type": "PubMed", "id": "11536079", "url": "https://glygen.org/publication/PubMed/11536079" } ] }, { "title": "Na+:HCO(3-) cotransporters (NBC): cloning and characterization.", "journal": "The Journal of membrane biology", "date": "2001", "authors": "Soleimani M, Burnham CE", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "11562789", "url": "https://glygen.org/publication/PubMed/11562789" } ] }, { "title": "Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum.", "journal": "Human genetics", "date": "2001", "authors": "Pulkkinen L, Nakano A, Ringpfeil F, Uitto J", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "reference": [ { "type": "PubMed", "id": "11702217", "url": "https://glygen.org/publication/PubMed/11702217" } ] }, { "title": "ABCC6 gene polymorphism associated with variation in plasma lipoproteins.", "journal": "Journal of human genetics", "date": "2001", "authors": "Wang J, Near S, Young K, Connelly PW, Hegele RA", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "reference": [ { "type": "PubMed", "id": "11776382", "url": "https://glygen.org/publication/PubMed/11776382" } ] }, { "title": "A principal role for the proteasome in endoplasmic reticulum-associated degradation of misfolded intracellular cystic fibrosis transmembrane conductance regulator.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Gelman MS, Kannegaard ES, Kopito RR", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "11812794", "url": "https://glygen.org/publication/PubMed/11812794" } ] }, { "title": "Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6).", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Ilias A, Urban Z, Seidl TL, Le Saux O, Sinko E, Boyd CD, Sarkadi B, Varadi A", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "reference": [ { "type": "PubMed", "id": "11880368", "url": "https://glygen.org/publication/PubMed/11880368" } ] }, { "title": "Functional analysis of ABCA8, a new drug transporter.", "journal": "Biochemical and biophysical research communications", "date": "2002", "authors": "Tsuruoka S, Ishibashi K, Yamamoto H, Wakaumi M, Suzuki M, Schwartz GJ, Imai M, Fujimura A", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "12379217", "url": "https://glygen.org/publication/PubMed/12379217" } ] }, { "title": "The role of the efflux transporter P-glycoprotein in brain penetration of prednisolone.", "journal": "The Journal of endocrinology", "date": "2002", "authors": "Karssen AM, Meijer OC, van der Sandt IC, De Boer AG, De Lange EC, De Kloet ER", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "12379510", "url": "https://glygen.org/publication/PubMed/12379510" } ] }, { "title": "The cystic fibrosis transmembrane conductance regulator interacts with and regulates the activity of the HCO3- salvage transporter human Na+-HCO3- cotransport isoform 3.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Park M, Ko SB, Choi JY, Muallem G, Thomas PJ, Pushkin A, Lee MS, Kim JY, Lee MG, Muallem S, Kurtz I", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "12403779", "url": "https://glygen.org/publication/PubMed/12403779" } ] }, { "title": "Characterization of the drug resistance and transport properties of multidrug resistance protein 6 (MRP6, ABCC6).", "journal": "Cancer research", "date": "2002-11-01", "authors": "Belinsky Martin G, Chen Zhe-Sheng, Shchaveleva Irina, Zeng Hao, Kruh Gary D", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "reference": [ { "type": "PubMed", "id": "12414644", "url": "https://glygen.org/publication/PubMed/12414644" } ] }, { "title": "Distribution of STI-571 to the brain is limited by P-glycoprotein-mediated efflux.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "2003", "authors": "Dai H, Marbach P, Lemaire M, Hayes M, Elmquist WF", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "12604685", "url": "https://glygen.org/publication/PubMed/12604685" } ] }, { "title": "Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum.", "journal": "Investigative ophthalmology & visual science", "date": "2003", "authors": "Hu X, Peek R, Plomp A, ten Brink Jt, Scheffer G, van Soest S, Leys A, de Jong PT, Bergen AA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5690338", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5690338" } ], "reference": [ { "type": "PubMed", "id": "12714611", "url": "https://glygen.org/publication/PubMed/12714611" } ] }, { "title": "Subcellular localization and N-glycosylation of human ABCC6, expressed in MDCKII cells.", "journal": "Biochemical and biophysical research communications", "date": "2003", "authors": "Sinko E, Ilias A, Ujhelly O, Homolya L, Scheffer GL, Bergen AA, Sarkadi B, Varadi A", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255#ptm_processing" }, { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" }, { "database": "Automatic Literature Mining", "id": "12901863", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/12901863" } ], "reference": [ { "type": "PubMed", "id": "12901863", "url": "https://glygen.org/publication/PubMed/12901863" } ] }, { "title": "Efficient inhibition of P-glycoprotein-mediated multidrug resistance with a monoclonal antibody.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1992", "authors": "Mechetner EB, Roninson IB", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "1352877", "url": "https://glygen.org/publication/PubMed/1352877" } ] }, { "title": "Partial purification and reconstitution of the human multidrug-resistance pump: characterization of the drug-stimulatable ATP hydrolysis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1992", "authors": "Ambudkar SV, Lelong IH, Zhang J, Cardarelli CO, Gottesman MM, Pastan I", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "1356264", "url": "https://glygen.org/publication/PubMed/1356264" } ] }, { "title": "P-glycoprotein but not topoisomerase II and glutathione-S-transferase-pi accounts for enhanced intracellular drug-resistance in LoVo MDR human cell lines.", "journal": "Tumori", "date": "1992", "authors": "Boiocchi M, Tumiotto L, Giannini F, Viel A, Biscontin G, Sartor F, Toffoli G", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "1359686", "url": "https://glygen.org/publication/PubMed/1359686" } ] }, { "title": "Phosphorylation of the cystic fibrosis transmembrane conductance regulator.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Picciotto MR, Cohn JA, Bertuzzi G, Greengard P, Nairn AC", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "1377674", "url": "https://glygen.org/publication/PubMed/1377674" } ] }, { "title": "Structural determinants of P-glycoprotein-mediated transport of glucocorticoids.", "journal": "Pharmaceutical research", "date": "2003", "authors": "Yates CR, Chang C, Kearbey JD, Yasuda K, Schuetz EG, Miller DD, Dalton JT, Swaan PW", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "14661924", "url": "https://glygen.org/publication/PubMed/14661924" } ] }, { "title": "Novel ABCC6 mutations in pseudoxanthoma elasticum.", "journal": "The Journal of investigative dermatology", "date": "2004", "authors": "Chassaing N, Martin L, Mazereeuw J, Barrie L, Nizard S, Bonafe JL, Calvas P, Hovnanian A", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "reference": [ { "type": "PubMed", "id": "15086542", "url": "https://glygen.org/publication/PubMed/15086542" } ] }, { "title": "Does autosomal dominant pseudoxanthoma elasticum exist?", "journal": "American journal of medical genetics. Part A", "date": "2004", "authors": "Plomp AS, Hu X, de Jong PT, Bergen AA", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "reference": [ { "type": "PubMed", "id": "15098239", "url": "https://glygen.org/publication/PubMed/15098239" } ] }, { "title": "Pharmacokinetics of erythromycin in rabbit corneas after single-dose infusion: role of P-glycoprotein as a barrier to in vivo ocular drug absorption.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "2004", "authors": "Dey S, Gunda S, Mitra AK", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "15175422", "url": "https://glygen.org/publication/PubMed/15175422" } ] }, { "title": "ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE).", "journal": "Human mutation", "date": "2004", "authors": "Gheduzzi D, Guidetti R, Anzivino C, Tarugi P, Di Leo E, Quaglino D, Ronchetti IP", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "reference": [ { "type": "PubMed", "id": "15459974", "url": "https://glygen.org/publication/PubMed/15459974" } ] }, { "title": "Identification of budesonide and prednisone as substrates of the intestinal drug efflux pump P-glycoprotein.", "journal": "Inflammatory bowel diseases", "date": "2004", "authors": "Dilger K, Schwab M, Fromm MF", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "15472518", "url": "https://glygen.org/publication/PubMed/15472518" } ] }, { "title": "Selective and ATP-dependent translocation of peptides by the homodimeric ATP binding cassette transporter TAP-like (ABCB9).", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Wolters JC, Abele R, Tampe R", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "15863492", "url": "https://glygen.org/publication/PubMed/15863492" } ] }, { "title": "ABCB5-mediated doxorubicin transport and chemoresistance in human malignant melanoma.", "journal": "Cancer research", "date": "2005", "authors": "Frank NY, Margaryan A, Huang Y, Schatton T, Waaga-Gasser AM, Gasser M, Sayegh MH, Sadee W, Frank MH", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "15899824", "url": "https://glygen.org/publication/PubMed/15899824" } ] }, { "title": "Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.", "journal": "Human mutation", "date": "2005", "authors": "Miksch S, Lumsden A, Guenther UP, Foernzler D, Christen-Zach S, Daugherty C, Ramesar RK, Lebwohl M, Hohl D, Neldner KH, Lindpaintner K, Richards RI, Struk B", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "reference": [ { "type": "PubMed", "id": "16086317", "url": "https://glygen.org/publication/PubMed/16086317" } ] }, { "title": "Transmembrane transport of endo- and xenobiotics by mammalian ATP-binding cassette multidrug resistance proteins.", "journal": "Physiological reviews", "date": "2006", "authors": "Deeley RG, Westlake C, Cole SP", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "16816140", "url": "https://glygen.org/publication/PubMed/16816140" } ] }, { "title": "Sequential quality-control checkpoints triage misfolded cystic fibrosis transmembrane conductance regulator.", "journal": "Cell", "date": "2006", "authors": "Younger JM, Chen L, Ren HY, Rosser MF, Turnbull EL, Fan CY, Patterson C, Cyr DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "16901789", "url": "https://glygen.org/publication/PubMed/16901789" } ] }, { "title": "Bile salt-dependent efflux of cellular phospholipids mediated by ATP binding cassette protein B4.", "journal": "Hepatology (Baltimore, Md.)", "date": "2007", "authors": "Morita SY, Kobayashi A, Takanezawa Y, Kioka N, Handa T, Arai H, Matsuo M, Ueda K", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "17523162", "url": "https://glygen.org/publication/PubMed/17523162" } ] }, { "title": "Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.", "journal": "Journal of medical genetics", "date": "2007", "authors": "Pfendner EG, Vanakker OM, Terry SF, Vourthis S, McAndrew PE, McClain MR, Fratta S, Marais AS, Hariri S, Coucke PJ, Ramsay M, Viljoen D, Terry PF, De Paepe A, Uitto J, Bercovitch LG", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "reference": [ { "type": "PubMed", "id": "17617515", "url": "https://glygen.org/publication/PubMed/17617515" } ] }, { "title": "A mutation in the ATP-binding site of the Kir6.2 subunit of the KATP channel alters coupling with the SUR2A subunit.", "journal": "The Journal of physiology", "date": "2007", "authors": "Tammaro P, Ashcroft FM", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "17855752", "url": "https://glygen.org/publication/PubMed/17855752" } ] }, { "title": "The N-terminal region of ABC50 interacts with eukaryotic initiation factor eIF2 and is a target for regulatory phosphorylation by CK2.", "journal": "The Biochemical journal", "date": "2008", "authors": "Paytubi S, Morrice NA, Boudeau J, Proud CG", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "17894550", "url": "https://glygen.org/publication/PubMed/17894550" } ] }, { "title": "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra.", "journal": "Journal of proteome research", "date": "2007", "authors": "Yu LR, Zhu Z, Chan KC, Issaq HJ, Dimitrov DS, Veenstra TD", "evidence": [ { "database": "iPTMnet", "id": "O95255-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95255-1" } ], "reference": [ { "type": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" } ] }, { "title": "Identification of a lysosomal peptide transport system induced during dendritic cell development.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Demirel O, Waibler Z, Kalinke U, Grunebach F, Appel S, Brossart P, Hasilik A, Tampe R, Abele R", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "17977821", "url": "https://glygen.org/publication/PubMed/17977821" } ] }, { "title": "Inhibition of MDR1 expression by retinol treatment increases sensitivity to etoposide (VP16) in human neoplasic cell line.", "journal": "Toxicology in vitro : an international journal published in association with BIBRA", "date": "2008", "authors": "Klamt F, Passos DT, Castro MA, Gelain DP, Grivicich I, Moreira JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "18282684", "url": "https://glygen.org/publication/PubMed/18282684" } ] }, { "title": "Peptide specificity and lipid activation of the lysosomal transport complex ABCB9 (TAPL).", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Zhao C, Haase W, Tampe R, Abele R", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "18434309", "url": "https://glygen.org/publication/PubMed/18434309" } ] }, { "title": "DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.", "journal": "Nature", "date": "2008", "authors": "Ley TJ, Mardis ER, Ding L, Fulton B, McLellan MD, Chen K, Dooling D, Dunford-Shore BH, McGrath S, Hickenbotham M, Cook L, Abbott R, Larson DE, Koboldt DC, Pohl C, Smith S, Hawkins A, Abbott S, Locke D, Hillier LW, Miner T, Fulton L, Magrini V, Wylie T, Glasscock J, Conyers J, Sander N, Shi X, Osborne JR, Minx P, Gordon D, Chinwalla A, Zhao Y, Ries RE, Payton JE, Westervelt P, Tomasson MH, Watson M, Baty J, Ivanovich J, Heath S, Shannon WD, Nagarajan R, Walter MJ, Link DC, Graubert TA, DiPersio JF, Wilson RK", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "reference": [ { "type": "PubMed", "id": "18987736", "url": "https://glygen.org/publication/PubMed/18987736" } ] }, { "title": "One step at a time: endoplasmic reticulum-associated degradation.", "journal": "Nature reviews. Molecular cell biology", "date": "2008", "authors": "Vembar SS, Brodsky JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "19002207", "url": "https://glygen.org/publication/PubMed/19002207" } ] }, { "title": "Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals.", "journal": "Journal of dermatological science", "date": "2009", "authors": "Ramsay M, Greenberg T, Lombard Z, Labrum R, Lubbe S, Aron S, Marais AS, Terry S, Bercovitch L, Viljoen D", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "reference": [ { "type": "PubMed", "id": "19339160", "url": "https://glygen.org/publication/PubMed/19339160" } ] }, { "title": "Influx and efflux transport as determinants of melphalan cytotoxicity: Resistance to melphalan in MDR1 overexpressing tumor cell lines.", "journal": "Biochemical pharmacology", "date": "2009", "authors": "Kuhne A, Tzvetkov MV, Hagos Y, Lage H, Burckhardt G, Brockmoller J", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "19447222", "url": "https://glygen.org/publication/PubMed/19447222" } ] }, { "title": "ABC50 promotes translation initiation in mammalian cells.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Paytubi S, Wang X, Lam YW, Izquierdo L, Hunter MJ, Jan E, Hundal HS, Proud CG", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "19570978", "url": "https://glygen.org/publication/PubMed/19570978" } ] }, { "title": "Multidrug resistance phenotype of human BRO melanoma cells transfected with a wild-type human mdr1 complementary DNA.", "journal": "Cancer research", "date": "1990", "authors": "Lincke CR, van der Bliek AM, Schuurhuis GJ, van der Velde-Koerts T, Smit JJ, Borst P", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "1968359", "url": "https://glygen.org/publication/PubMed/1968359" } ] }, { "title": "MDR1 polymorphism role in patients treated with cetuximab and irinotecan in irinotecan refractory colorectal cancer.", "journal": "Medical oncology (Northwood, London, England)", "date": "2010", "authors": "Paule B, Castagne V, Picard V, Saffroy R, Adam R, Guettier C, Farinotti R, Bonhomme-Faivre L", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "19862647", "url": "https://glygen.org/publication/PubMed/19862647" } ] }, { "title": "A mutation in the second nucleotide binding fold of the cystic fibrosis gene.", "journal": "American journal of human genetics", "date": "1991", "authors": "Osborne L, Knight R, Santis G, Hodson M", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "1998343", "url": "https://glygen.org/publication/PubMed/1998343" } ] }, { "title": "An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy.", "journal": "American journal of medical genetics. Part A", "date": "2010", "authors": "Le Boulanger G, Labreze C, Croue A, Schurgers LJ, Chassaing N, Wittkampf T, Rutsch F, Martin L", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "reference": [ { "type": "PubMed", "id": "20034067", "url": "https://glygen.org/publication/PubMed/20034067" } ] }, { "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "O95255-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95255-1" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] }, { "title": "P-glycoprotein, but not multidrug resistance protein 4, plays a role in the systemic clearance of irinotecan and SN-38 in mice.", "journal": "Drug metabolism letters", "date": "2010", "authors": "Tagen M, Zhuang Y, Zhang F, Harstead KE, Shen J, Schaiquevich P, Fraga CH, Panetta JC, Waters CM, Stewart CF", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "20583968", "url": "https://glygen.org/publication/PubMed/20583968" } ] }, { "title": "Differences in assessment of macrolide interaction with human MDR1 (ABCB1, P-gp) using rhodamine-123 efflux, ATPase activity and cellular accumulation assays.", "journal": "European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical Sciences", "date": "2010", "authors": "Munic V, Kelneric Z, Mikac L, Erakovic Haber V", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "20621639", "url": "https://glygen.org/publication/PubMed/20621639" } ] }, { "title": "Identification of a new splice variant of the human ABCC6 transporter.", "journal": "Biochem. Res. Int.", "date": "2008", "authors": "Armentano Maria Francesca, Ostuni Angela, Infantino Vittoria, Iacobazzi Vito, Castiglione Morelli Maria Antonietta, Bisaccia Faustino", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "reference": [ { "type": "PubMed", "id": "21318057", "url": "https://glygen.org/publication/PubMed/21318057" } ] }, { "title": "CFTR and TMEM16A are separate but functionally related Cl- channels.", "journal": "Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology", "date": "2011", "authors": "Ousingsawat J, Kongsuphol P, Schreiber R, Kunzelmann K", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "22178883", "url": "https://glygen.org/publication/PubMed/22178883" } ] }, { "title": "Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.", "journal": "American journal of human genetics", "date": "2012", "authors": "Nitschke Y, Baujat G, Botschen U, Wittkampf T, du Moulin M, Stella J, Le Merrer M, Guest G, Lambot K, Tazarourte-Pinturier MF, Chassaing N, Roche O, Feenstra I, Loechner K, Deshpande C, Garber SJ, Chikarmane R, Steinmann B, Shahinyan T, Martorell L, Davies J, Smith WE, Kahler SG, McCulloch M, Wraige E, Loidi L, Hohne W, Martin L, Hadj-Rabia S, Terkeltaub R, Rutsch F", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "reference": [ { "type": "PubMed", "id": "22209248", "url": "https://glygen.org/publication/PubMed/22209248" } ] }, { "title": "Characterisation of the roles of ABCB1, ABCC1, ABCC2 and ABCG2 in the transport and pharmacokinetics of actinomycin D in vitro and in vivo.", "journal": "Biochemical pharmacology", "date": "2013", "authors": "Hill CR, Jamieson D, Thomas HD, Brown CD, Boddy AV, Veal GJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "23063411", "url": "https://glygen.org/publication/PubMed/23063411" } ] }, { "title": "ABCC6 is a basolateral plasma membrane protein.", "journal": "Circ. Res.", "date": "2013", "authors": "Pomozi Viola, Le Saux Olivier, Brampton Christopher, Apana Ailea, Ili\u00e1s Attila, Szeri Fl\u00f3ra, Martin Ludovic, Monostory Katalin, Paku S\u00e1ndor, Sarkadi Bal\u00e1zs, Szak\u00e1cs Gergely, V\u00e1radi Andr\u00e1s", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "reference": [ { "type": "PubMed", "id": "23625951", "url": "https://glygen.org/publication/PubMed/23625951" } ] }, { "title": "The hepatitis B x antigen anti-apoptotic effector URG7 is localized to the endoplasmic reticulum membrane.", "journal": "FEBS letters", "date": "2013-09-17", "authors": "Ostuni A, Lara P, Armentano M F, Miglionico R, Salvia A M, M\u00f6nnich M, Carmosino M, Lasorsa F M, Monn\u00e9 M, Nilsson I, Bisaccia F", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "reference": [ { "type": "PubMed", "id": "23912081", "url": "https://glygen.org/publication/PubMed/23912081" } ] }, { "title": "RNF185 is a novel E3 ligase of endoplasmic reticulum-associated degradation (ERAD) that targets cystic fibrosis transmembrane conductance regulator (CFTR).", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "El Khouri E, Le Pavec G, Toledano MB, Delaunay-Moisan A", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "24019521", "url": "https://glygen.org/publication/PubMed/24019521" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" }, { "database": "iPTMnet", "id": "O95255", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95255" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2013", "authors": "Jansen RS, Kucukosmanoglu A, de Haas M, Sapthu S, Otero JA, Hegman IE, Bergen AA, Gorgels TG, Borst P, van de Wetering K", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "reference": [ { "type": "PubMed", "id": "24277820", "url": "https://glygen.org/publication/PubMed/24277820" } ] }, { "title": "Biosynthesis of cystic fibrosis transmembrane conductance regulator.", "journal": "The international journal of biochemistry & cell biology", "date": "2014", "authors": "Pranke IM, Sermet-Gaudelus I", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "24685677", "url": "https://glygen.org/publication/PubMed/24685677" } ] }, { "title": "Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.", "journal": "Science (New York, N.Y.)", "date": "1989", "authors": "Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "2475911", "url": "https://glygen.org/publication/PubMed/2475911" } ] }, { "title": "ABCC6-mediated ATP secretion by the liver is the main source of the mineralization inhibitor inorganic pyrophosphate in the systemic circulation-brief report.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "2014", "authors": "Jansen RS, Duijst S, Mahakena S, Sommer D, Szeri F, Varadi A, Plomp A, Bergen AA, Oude Elferink RP, Borst P, van de Wetering K", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "reference": [ { "type": "PubMed", "id": "24969777", "url": "https://glygen.org/publication/PubMed/24969777" } ] }, { "title": "Molecular mechanisms for biliary phospholipid and drug efflux mediated by ABCB4 and bile salts.", "journal": "BioMed research international", "date": "2014", "authors": "Morita SY, Terada T", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "25133187", "url": "https://glygen.org/publication/PubMed/25133187" } ] }, { "title": "Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations.", "journal": "The Journal of investigative dermatology", "date": "2015", "authors": "Jin L, Jiang Q, Wu Z, Shao C, Zhou Y, Yang L, Uitto J, Wang G", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "reference": [ { "type": "PubMed", "id": "25615550", "url": "https://glygen.org/publication/PubMed/25615550" } ] }, { "title": "Transepithelial transport of drugs by the multidrug transporter in cultured Madin-Darby canine kidney cell epithelia.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Horio M, Chin KV, Currier SJ, Goldenberg S, Williams C, Pastan I, Gottesman MM, Handler J", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "2570070", "url": "https://glygen.org/publication/PubMed/2570070" } ] }, { "title": "Temozolomide competes for P-glycoprotein and contributes to chemoresistance in glioblastoma cells.", "journal": "Cancer letters", "date": "2015", "authors": "Munoz JL, Walker ND, Scotto KW, Rameshwar P", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "26208431", "url": "https://glygen.org/publication/PubMed/26208431" } ] }, { "title": "Polymorphisms in the multidrug-resistance 1 gene related to glucocorticoid response in rheumatoid arthritis treatment.", "journal": "Rheumatology international", "date": "2017", "authors": "Cuppen BV, Pardali K, Kraan MC, Marijnissen AC, Yrlid L, Olsson M, Bijlsma JW, Lafeber FP, Fritsch-Stork RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "28132103", "url": "https://glygen.org/publication/PubMed/28132103" } ] }, { "title": "A retrovirus carrying an MDR1 cDNA confers multidrug resistance and polarized expression of P-glycoprotein in MDCK cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1988", "authors": "Pastan I, Gottesman MM, Ueda K, Lovelace E, Rutherford AV, Willingham MC", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "2898143", "url": "https://glygen.org/publication/PubMed/2898143" } ] }, { "title": "Structural analysis reveals pathomechanisms associated with pseudoxanthoma elasticum-causing mutations in the ABCC6 transporter.", "journal": "The Journal of biological chemistry", "date": "2018", "authors": "Ran Y, Zheng A, Thibodeau PH", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "reference": [ { "type": "PubMed", "id": "30154241", "url": "https://glygen.org/publication/PubMed/30154241" } ] }, { "title": "Is the emperor wearing shorts? The published structures of ABC transporters.", "journal": "FEBS letters", "date": "2020", "authors": "Jones PM, George AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "32981041", "url": "https://glygen.org/publication/PubMed/32981041" } ] }, { "title": "Human multidrug-resistant cell lines: increased mdr1 expression can precede gene amplification.", "journal": "Science (New York, N.Y.)", "date": "1986", "authors": "Shen DW, Fojo A, Chin JE, Roninson IB, Richert N, Pastan I, Gottesman MM", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "3457471", "url": "https://glygen.org/publication/PubMed/3457471" } ] }, { "title": "Expression of a full-length cDNA for the human `MDR1` gene confers resistance to colchicine, doxorubicin, and vinblastine.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1987", "authors": "Ueda K, Cardarelli C, Gottesman MM, Pastan I", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "3472246", "url": "https://glygen.org/publication/PubMed/3472246" } ] }, { "title": "Localization of Xenobiotic Transporters Expressed at the Human Blood-Testis Barrier.", "journal": "Drug metabolism and disposition: the biological fate of chemicals", "date": "2022-06", "authors": "Hau Raymond K, Klein Robert R, Wright Stephen H, Cherrington Nathan J", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "reference": [ { "type": "PubMed", "id": "35307651", "url": "https://glygen.org/publication/PubMed/35307651" } ] }, { "title": "High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease.", "journal": "Journal of neurology, neurosurgery, and psychiatry", "date": "2023-01", "authors": "Uemura Masahiro, Hatano Yuya, Nozaki Hiroaki, Ando Shoichiro, Kondo Hajime, Hanazono Akira, Iwanaga Akira, Murota Hiroyuki, Osakada Yosuke, Osaki Masato, Kanazawa Masato, Kanai Mitsuyasu, Shibata Yoko, Saika Reiko, Miyatake Tadashi, Aizawa Hitoshi, Ikeuchi Takeshi, Tomimoto Hidekazu, Mizuta Ikuko, Mizuno Toshiki, Ishihara Tomohiko, Onodera Osamu", "evidence": [ { "database": "RefSeq", "id": "NP_001072996", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072996" } ], "reference": [ { "type": "PubMed", "id": "36261288", "url": "https://glygen.org/publication/PubMed/36261288" } ] }, { "title": "The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.", "journal": "Human mutation", "date": "2022-12", "authors": "Szeri Flora, Miko Agnes, Navasiolava Nastassia, Kaposi Ambrus, Verschuere Shana, Molnar Beatrix, Li Qiaoli, Terry Sharon F, Boraldi Federica, Uitto Jouni, van de Wetering Koen, Martin Ludovic, Quaglino Daniela, Vanakker Olivier M, Tory Kalman, Aranyi Tamas", "evidence": [ { "database": "RefSeq", "id": "NP_001072996", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072996" } ], "reference": [ { "type": "PubMed", "id": "36317459", "url": "https://glygen.org/publication/PubMed/36317459" } ] }, { "title": "CircZXDC Promotes Vascular Smooth Muscle Cell Transdifferentiation via Regulating miRNA-125a-3p/ABCC6 in Moyamoya Disease.", "journal": "Cells", "date": "2022-11-26", "authors": "Liu Yuan, Huang Yimin, Zhang Xincheng, Ma Xiaopeng, He Xuejun, Gan Chao, Zou Xin, Wang Sheng, Shu Kai, Lei Ting, Zhang Huaqiu", "evidence": [ { "database": "RefSeq", "id": "NP_001072996", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072996" } ], "reference": [ { "type": "PubMed", "id": "36497052", "url": "https://glygen.org/publication/PubMed/36497052" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95255", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95255" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Intracellular turnover of cystic fibrosis transmembrane conductance regulator. Inefficient processing and rapid degradation of wild-type and mutant proteins.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Ward CL, Kopito RR", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "7523390", "url": "https://glygen.org/publication/PubMed/7523390" } ] }, { "title": "Conformational maturation of CFTR but not its mutant counterpart (delta F508) occurs in the endoplasmic reticulum and requires ATP.", "journal": "The EMBO journal", "date": "1994", "authors": "Lukacs GL, Mohamed A, Kartner N, Chang XB, Riordan JR, Grinstein S", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "7529176", "url": "https://glygen.org/publication/PubMed/7529176" } ] }, { "title": "Degradation of CFTR by the ubiquitin-proteasome pathway.", "journal": "Cell", "date": "1995", "authors": "Ward CL, Omura S, Kopito RR", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "7553863", "url": "https://glygen.org/publication/PubMed/7553863" } ] }, { "title": "Multiple proteolytic systems, including the proteasome, contribute to CFTR processing.", "journal": "Cell", "date": "1995", "authors": "Jensen TJ, Loo MA, Pind S, Williams DB, Goldberg AL, Riordan JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "7553864", "url": "https://glygen.org/publication/PubMed/7553864" } ] }, { "title": "P-glycoprotein mediates profound resistance to bisantrene.", "journal": "Oncology research", "date": "1994", "authors": "Zhang XP, Ritke MK, Yalowich JC, Slovak ML, Ho JP, Collins KI, Annable T, Arceci RJ, Durr FE, Greenberger LM", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "7865904", "url": "https://glygen.org/publication/PubMed/7865904" } ] }, { "title": "Stoichiometry of coupling of rhodamine 123 transport to ATP hydrolysis by P-glycoprotein.", "journal": "European journal of biochemistry", "date": "1998", "authors": "Shapiro AB, Ling V", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "9652413", "url": "https://glygen.org/publication/PubMed/9652413" } ] }, { "title": "Retroviral transfer of the human MDR1 gene confers resistance to bisantrene-specific hematotoxicity.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "1996", "authors": "Aksentijevich I, Cardarelli CO, Pastan I, Gottesman MM", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "9816258", "url": "https://glygen.org/publication/PubMed/9816258" } ] }, { "title": "Reconstituted human cardiac KATP channels: functional identity with the native channels from the sarcolemma of human ventricular cells.", "journal": "Circulation research", "date": "1998", "authors": "Babenko AP, Gonzalez G, Aguilar-Bryan L, Bryan J", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "9831708", "url": "https://glygen.org/publication/PubMed/9831708" } ] }, { "title": "Expression of human MRP6, a homologue of the multidrug resistance protein gene MRP1, in tissues and cancer cells.", "journal": "Cancer Res.", "date": "1999", "authors": "Kool M, van der Linden M, de Haas M, Baas F, Borst P", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "reference": [ { "type": "PubMed", "id": "9892204", "url": "https://glygen.org/publication/PubMed/9892204" } ] } ], "pathway": [ { "id": "R-HSA-382556", "name": "ABC-family proteins mediated transport", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556", "resource": "Reactome", "description": "ABC-family proteins mediated transport" }, { "id": "R-HSA-5690338", "name": "Defective ABCC6 causes PXE", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5690338", "resource": "Reactome", "description": "Defective ABCC6 causes PXE" } ], "orthologs": [ { "uniprot_canonical_ac": "O88269-1", "protein_name": "ATP-binding cassette sub-family C member 6", "gene_name": "Abcc6", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MNGEHSMATPGESCAGLRVWNQTEQEPVAYHLLNLCFLRAAGSWVPPMYLWVLGPIYLLYIHRHGCCYLRMSRLFKIKMVLGFALILLYTFNAAVPLWRIHRGMPQAPELLIHPTVWLTTMSFATFLIHMERKKGVRASGLLFGYWLLCCLVPAIDTVQQASAGSFRQEPLHHLATYLCLSLVVAELVLSCLVDQPPFFSEDSKPLNPCPEAEASFPSKAMFWWASGLLWKGYRKLLGPKDLWSLERENSSEELVSQLEREWRRNFSELPGHKGHSGMGTPETEAFLQPERSQRGPLLRAIWRVFRSTFLLGTLSLVISDAFRFAVPKLLSLFLEFMGDLESSAWTGWLLAVLMFLSACLQTLFEQQYMYRVKVLQMRLRTAITGLVYRKVLVLSSGSRKSSAAGDVVNLVSVDVQRLVESILHLNGLWLLFLWIIVCFVYLWQLLGPSALTAVAVFLSLLPLNFFITKKRSFHQEEQMRQKASRARLTSSMLRTVRTIKSHGWECAFLERLLHIRGQELGALKTSAFLFSVSLVSFQVSTFLVALVVFAVHTLVAEDNAMDAEKAFVTLTVLSILNKAQAFLPFSVHCLVQARVSFDRLAAFLCLEEVDPNGMVLSPSRCSSKDRISIHNGTFAWSQESPPCLHGINLTVPQGCLLAVVGPVGAGKSSLLSALLGELLKVEGSVSIEGSVAYVPQEAWVQNTSVVENVCFRQELDLPWLQEVLEACALGSDVASFPAGVHTPVGEQGMNLSGGQKQRLSLARAVYRRAAVYLMDDPLAALDAHVSQEVFKQVIGPSGLLQGTTRILVTHTLHVLPQADQILVLANGTIAEMGSYQDLLHRNGALVGLLDGARQPAGEGEGEAHAAATSDDLGGFSGGGTPTRRPERPRPSDAAPVKGSTSEAQMEPSLDDVEVTGLTAGEDSVQYGRVKSATYLSYLRAVGTPLCTYTLFLFLCQQVASFCQGYWLSLWADDPVVDGKQMHSALRGSIFGLLGCLQAIGLFASMAAVFLGGARASCLLFRSLLWDVARSPIGFFERTPVGNLLNRFSKETDIVDVDIPDKMRTLLTYAFGLLEVGLAVSMATPLAIVAILPLMLLYAGFQSLYVATCCQLRRLESASYSSVCSHLAETFQGSQVVRAFQAQGPFTAQHDALMDENQRISFPRLVADRWLAANLELLGNGLVFVAATCAVLSKAHLSAGLAGFSVSAALQVTQTLQWVVRSWTDLENSMVAVERVQDYVHTPKEAPWRLPSSAAQPLWPCGGQIEFRDFGLRHRPELPMAVQGVSLKIHAGEKVGIVGRTGAGKSSLTWGLLRLQEATEGGIWIDGVPITDMGLHTLRSRITIIPQDPVLFPGSLRMNLDLLQENTDEGIWAALETVQLKAFVTSLPGQLQYECSGQGDDLSVGQKQLLCLARALLRKTQILILDEATASVDPGTEIQMQAALERWFAQCTVLLIAHRLRSVMNCARVLVMDEGQVAESGSPAQLLAQKGLFYRLAQESGLA", "length": 1502 }, "evidence": [ { "id": "45923157", "url": "http://www.informatics.jax.org/homology/45923157", "database": "MGI" }, { "id": "O95255", "url": "https://omabrowser.org/oma/group/O95255/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9R1S7-1", "protein_name": "ATP-binding cassette sub-family C member 6", "gene_name": "Abcc6", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MNRGRSMATPGEQCAGLRVWNQTEQEPAAYHLLSLCFVRAASSWVPPMYLWVLGPIYLLYIHRHGRCYLRMSHLFKTKMVLGLALILLYTFNVAVPLWRIHQGVPQAPELLIHPTVWLTTMSFATFLIHMERRKGVRSSGVLFGYWLLCCILPGINTVQQASAGNFRQEPLHHLATYLCLSLVVAELVLSCLVDQPPFFSEDSQPLNPCPEAEASFPSKAMFWWASGLLWRGYKKLLGPKDLWSLGRENSSEELVSQLEREWRRSCNGLPGHKGHSSVGAPETEAFLQPERSQRGPLLRAIWRVFRSTFLLGTLSLVISDAFRFAVPKLLSLFLEFMGDRNSSAWTGWLLAVLMFAAACLQTLFEQQHMYRAKVLQMRLRTAITGLVYRKVLVLSSGSRKSSAAGDVVNLVSVDIQRLAESIIYLNGLWLLFLWIFVCFVYLWQLLGPSALTAVAVFLSLLPLNFFITKKRGFHQEEQMRQKASRARLTSSMLRTVRTIKSHGWEHAFLERLLHIRGQELSALKTSTLLFSVSLVSFQVSTFLVALVVFAVHTLVAEDNAMDAEKAFVTLTVLSILNKAQAFLPFSVHCIVQARVSFDRLAAFLCLEEVDPNGMIASNSRRSSKDRISVHNGTFAWSQESPPCLHGINLTVPQGCLLAVVGPVGAGKSSLLSALLGELLKVEGSVSIEGSVAYVPQEAWVQNTSVVENVCFRQELDLPWLQKVLDACALGSDVASFPAGVHTPIGEQGMNLSGGQKQRLSLARAVYKKAAIYLLDDPLAALDAHVSQQVFKQVIGPSGLLQGTTRILVTHTLHVLPQADRILVLANGTIAEMGSYQDLLQRNGALVGLLDGARQPAGTHDAATSDDLGGFPGGGRPTCRPDRPRPTEAAPVKGRSTSEVQMEASLDDPEATGLTAEEDSVRYGRVKTTIYLSYLRAVGTPLCTYTLFLFLCQQVASFSQGYWLSLWADDPVVDGRQMHAALRGWVFGLLGCLQAIGLFASMAAVFLGGARASGLLFRSLLWDVARSPIGFFERTPVGNLLNRFSKETDTVDVDIPDKLRSLLTYAFGLLEVGLAVTMATPLAIVAILPLMVLYAGFQSLYVATSCQLRRLESARYSSVCSHMAETFQGSLVVRAFRAQASFTAQHDALMDENQRVSFPKLVADRWLATNLELLGNGLVFVAATCAVLSKAHLSAGLVGFSVSAALQVTQTLQWVVRSWTDLENSMVAVERVQDYARIPKEAPWRLPTCAAQPLWPCGGQIEFRDFGLRHRPELPLAVQGVSLKIHAGEKVGIVGRTGAGKSSLAWGLLRLQEAAEGNIWIDGVPITHVGLHTLRSRITIIPQDPVLFPGSLRMNLDLLQEHTDEGIWAALETVQLKAFVTSLPGQLQYECAGQGDDLSVGQKQLLCLARALLRKTQILILDEATASVDPGTEMQMQAALERWFTQCTVLLIAHRLRSVMDCARVLVMDEGQVAESGSPAQLLAQKGLFYRLAHESGLA", "length": 1498 }, "evidence": [ { "id": "45923157", "url": "http://www.informatics.jax.org/homology/45923157", "database": "MGI" }, { "id": "O95255", "url": "https://omabrowser.org/oma/group/O95255/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 6, "go_terms": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "pmid": "" }, { "name": "ATPase-coupled transmembrane transporter activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "pmid": "" }, { "name": "ATPase-coupled inorganic anion transmembrane transporter activity", "id": "GO:0043225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043225", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "pmid": "" }, { "name": "ABC-type glutathione S-conjugate transporter activity", "id": "GO:0015431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015431", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "pmid": "" }, { "name": "basal plasma membrane", "id": "GO:0009925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009925", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 14, "go_terms": [ { "name": "response to sodium phosphate", "id": "GO:1904383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904383", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "pmid": "" }, { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "pmid": "" }, { "name": "phosphate ion homeostasis", "id": "GO:0055062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055062", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "pmid": "" }, { "name": "calcium ion homeostasis", "id": "GO:0055074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055074", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "pmid": "" }, { "name": "ATP metabolic process", "id": "GO:0046034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046034", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "pmid": "" }, { "name": "ATP transport", "id": "GO:0015867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015867", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "pmid": "" }, { "name": "response to magnesium ion", "id": "GO:0032026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032026", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "pmid": "" }, { "name": "inorganic diphosphate transport", "id": "GO:0030505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030505", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "pmid": "" }, { "name": "intracellular phosphate ion homeostasis", "id": "GO:0030643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030643", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "pmid": "" }, { "name": "leukotriene transport", "id": "GO:0071716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071716", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "pmid": "" }, { "name": "inhibition of non-skeletal tissue mineralization", "id": "GO:0140928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140928", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1222, "end_pos": 1224, "annotation": "n_glycosylation_sequon" }, { "start_pos": 15, "end_pos": 17, "annotation": "n_glycosylation_sequon" }, { "start_pos": 243, "end_pos": 245, "annotation": "n_glycosylation_sequon" }, { "start_pos": 259, "end_pos": 261, "annotation": "n_glycosylation_sequon" }, { "start_pos": 650, "end_pos": 652, "annotation": "n_glycosylation_sequon" }, { "start_pos": 704, "end_pos": 706, "annotation": "n_glycosylation_sequon" }, { "start_pos": 752, "end_pos": 754, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Glycosylated.", "evidence": [ { "database": "UniProtKB", "id": "O95255", "url": "https://www.uniprot.org/uniprot/O95255" }, { "database": "PubMed", "id": "30154241", "url": "https://glygen.org/publication/PubMed/30154241" } ] } ], "interactions": [], "reactions": [ { "id": "19121", "name": "", "equation": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q8CG09-1", "O88563-1", "Q62796-1", "Q63120-1", "O88269-1", "F1M3J4-1", "P33527-1", "O15439-1", "O15438-1", "O95255-1", "Q5T3U5-1", "Q15311-1", "Q92887-1", "Q96J66-1", "Q9R1S7-1", "B2RX12-1", "O35379-1", "Q62172-1", "Q8R4P9-1", "Q8VI47-1", "E9Q236-1", "P39109-1", "P53049-1" ], "evidence": [ { "id": "19121", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/19121" } ] }, { "id": "38963", "name": "", "equation": "ATP + H2O + leukotriene C4(in) = ADP + H(+) + leukotriene C4(out) + phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q63120-1", "Q8CG09-1", "O88563-1", "Q62796-1", "O88269-1", "F1M3J4-1", "P33527-1", "Q92887-1", "O15439-1", "O15438-1", "O95255-1", "Q5T3U5-1", "Q15311-1", "Q96J66-1", "Q9R1S7-1", "B2RX12-1", "Q8VI47-1", "O35379-1", "Q62172-1", "Q8R4P9-1", "E9Q236-1" ], "evidence": [ { "id": "38963", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/38963" } ] }, { "id": "R-HSA-1454916", "name": "The ABCC family mediates organic anion transport", "equation": "", "summary": "The multidrug resistance associated protein (MRPs) subfamily of the ABC transporter family can transport a wide and diverse range of organic anions that can be endogenous compounds and xenobiotics and their metabolites. All human MRPs (except MRP9) can mediate these transport reactions (Deeley et al. 2006). Separately, specific reactions have also been annotated to describe the roles of ABCC4 in platelet dense granule assembly, of ABCC1 in LTC4 export (an aspect of leukotriene synthesis), and of ABCC3 in bile salt efflux.", "cellular_location": "cytosol, extracellular region, plasma membrane", "input_participant_list": [ "R-ALL-1454930" ], "output_participant_list": [ "R-ALL-1454919" ], "enzyme_list": [ "Q96J66-1", "P13569-1", "O15440-1", "P33527-1", "Q5T3U5-1", "O15439-1", "O95255-1", "Q92887-1", "O15438-1" ], "evidence": [ { "id": "R-HSA-1454916", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1454916" } ] }, { "id": "R-HSA-5690340", "name": "Defective ABCC6 does not transport organic anion from cytosol to extracellular region", "equation": "", "summary": "The multidrug resistance associated protein (MRPs) subfamily of the ABC transporter family can transport a wide and diverse range of organic anions that can be endogenous compounds and xenobiotics and their metabolites. The multidrug resistance-associated protein 6 (ABCC6 aka MOAT-E) can actively transport organic anions. Defects in ABCC6 can cause pseudoxanthoma elasticum (PXE; MIM:264800), a rare multisystem disorder characterized by accumulation of mineralized and fragmented elastic fibers in the skin, vasculature and the Burch membrane of the eye. The most frequent mutation in ABCC6 causing PXE is R1141X (Le Saux et al. 2000, 2001, Hu et al. 2003).", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O95255-1" ], "evidence": [ { "id": "R-HSA-5690340", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5690340" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-1454919", "participant_name": "organic anion [extracellular region]", "crossref": [ { "id": "25696", "database": "ChEBI", "url": "" }, { "id": "25696", "database": "ChEBI", "url": "" }, { "id": "25696", "database": "ChEBI", "url": "" }, { "id": "25696", "database": "ChEBI", "url": "" }, { "id": "25696", "database": "ChEBI", "url": "" }, { "id": "25696", "database": "ChEBI", "url": "" }, { "id": "25696", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-ALL-1454930", "participant_name": "organic anion [cytosol]", "crossref": [ { "id": "25696", "database": "ChEBI", "url": "" }, { "id": "25696", "database": "ChEBI", "url": "" }, { "id": "25696", "database": "ChEBI", "url": "" }, { "id": "25696", "database": "ChEBI", "url": "" }, { "id": "25696", "database": "ChEBI", "url": "" }, { "id": "25696", "database": "ChEBI", "url": "" }, { "id": "25696", "database": "ChEBI", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "B2RX12", "gene_name": "Abcc3", "activity": [ { "ec_number": "7.6.2.2", "activity": "ATP + daunorubicin(in) + H2O = ADP + daunorubicin(out) + H(+) + phosphate.", "evidence": [ { "id": "B2RX12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B2RX12" } ] }, { "ec_number": "7.6.2.-", "activity": "", "evidence": [ { "id": "B2RX12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B2RX12" } ] }, { "ec_number": "7.6.2.3", "activity": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate.", "evidence": [ { "id": "B2RX12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B2RX12" } ] }, { "ec_number": "7.6.2.2", "activity": "", "evidence": [ { "id": "B2RX12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B2RX12" } ] }, { "ec_number": "7.6.2.3", "activity": "", "evidence": [ { "id": "B2RX12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B2RX12" } ] } ] }, { "uniprot_ac": "E9Q236", "gene_name": "Abcc4", "activity": [ { "ec_number": "7.6.2.2", "activity": "ATP + daunorubicin(in) + H2O = ADP + daunorubicin(out) + H(+) + phosphate.", "evidence": [ { "id": "E9Q236", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/E9Q236" } ] }, { "ec_number": "7.6.2.-", "activity": "", "evidence": [ { "id": "E9Q236", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/E9Q236" } ] }, { "ec_number": "7.6.2.3", "activity": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate.", "evidence": [ { "id": "E9Q236", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/E9Q236" } ] }, { "ec_number": "7.6.2.2", "activity": "", "evidence": [ { "id": "E9Q236", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/E9Q236" } ] }, { "ec_number": "7.6.2.3", "activity": "", "evidence": [ { "id": "E9Q236", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/E9Q236" } ] } ] }, { "uniprot_ac": "F1M3J4", "gene_name": "Abcc4", "activity": [ { "ec_number": "7.6.2.2", "activity": "ATP + daunorubicin(in) + H2O = ADP + daunorubicin(out) + H(+) + phosphate.", "evidence": [ { "id": "F1M3J4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/F1M3J4" } ] }, { "ec_number": "7.6.2.-", "activity": "", "evidence": [ { "id": "F1M3J4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/F1M3J4" } ] }, { "ec_number": "7.6.2.3", "activity": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate.", "evidence": [ { "id": "F1M3J4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/F1M3J4" } ] }, { "ec_number": "7.6.2.3", "activity": "", "evidence": [ { "id": "F1M3J4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/F1M3J4" } ] }, { "ec_number": "7.6.2.2", "activity": "", "evidence": [ { "id": "F1M3J4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/F1M3J4" } ] }, { "ec_number": "5.6.1.6", "activity": "ATP + H2O + closed Cl(-) channel = ADP + phosphate + open Cl(-) channel.", "evidence": [ { "id": "F1M3J4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/F1M3J4" } ] }, { "ec_number": "5.6.1.6", "activity": "", "evidence": [ { "id": "F1M3J4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/F1M3J4" } ] } ] }, { "uniprot_ac": "O15438", "gene_name": "ABCC3", "activity": [ { "ec_number": "7.6.2.2", "activity": "ATP + daunorubicin(in) + H2O = ADP + daunorubicin(out) + H(+) + phosphate.", "evidence": [ { "id": "O15438", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15438" } ] }, { "ec_number": "7.6.2.-", "activity": "", "evidence": [ { "id": "O15438", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15438" } ] }, { "ec_number": "7.6.2.3", "activity": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate.", "evidence": [ { "id": "O15438", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15438" } ] }, { "ec_number": "7.6.2.3", "activity": "", "evidence": [ { "id": "O15438", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15438" } ] }, { "ec_number": "7.6.2.2", "activity": "", "evidence": [ { "id": "O15438", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15438" } ] } ] }, { "uniprot_ac": "O15439", "gene_name": "ABCC4", "activity": [ { "ec_number": "7.6.2.2", "activity": "ATP + daunorubicin(in) + H2O = ADP + daunorubicin(out) + H(+) + phosphate.", "evidence": [ { "id": "O15439", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15439" } ] }, { "ec_number": "7.6.2.-", "activity": "", "evidence": [ { "id": "O15439", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15439" } ] }, { "ec_number": "7.6.2.3", "activity": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate.", "evidence": [ { "id": "O15439", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15439" } ] }, { "ec_number": "7.6.2.3", "activity": "", "evidence": [ { "id": "O15439", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15439" } ] }, { "ec_number": "7.6.2.2", "activity": "", "evidence": [ { "id": "O15439", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15439" } ] } ] }, { "uniprot_ac": "O15440", "gene_name": "ABCC5", "activity": [ { "ec_number": "7.6.2.2", "activity": "ATP + daunorubicin(in) + H2O = ADP + daunorubicin(out) + H(+) + phosphate.", "evidence": [ { "id": "O15440", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15440" } ] }, { "ec_number": "7.6.2.-", "activity": "", "evidence": [ { "id": "O15440", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15440" } ] }, { "ec_number": "7.6.2.2", "activity": "", "evidence": [ { "id": "O15440", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15440" } ] } ] }, { "uniprot_ac": "O35379", "gene_name": "Abcc1", "activity": [ { "ec_number": "7.6.2.2", "activity": "ATP + daunorubicin(in) + H2O = ADP + daunorubicin(out) + H(+) + phosphate.", "evidence": [ { "id": "O35379", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35379" } ] }, { "ec_number": "7.6.2.3", "activity": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate.", "evidence": [ { "id": "O35379", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35379" } ] }, { "ec_number": "7.6.2.2", "activity": "", "evidence": [ { "id": "O35379", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35379" } ] } ] }, { "uniprot_ac": "O88269", "gene_name": "Abcc6", "activity": [ { "ec_number": "7.6.2.-", "activity": "", "evidence": [ { "id": "O88269", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O88269" } ] }, { "ec_number": "7.6.2.3", "activity": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate.", "evidence": [ { "id": "O88269", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O88269" } ] }, { "ec_number": "7.6.2.3", "activity": "", "evidence": [ { "id": "O88269", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O88269" } ] } ] }, { "uniprot_ac": "O88563", "gene_name": "Abcc3", "activity": [ { "ec_number": "7.6.2.2", "activity": "ATP + daunorubicin(in) + H2O = ADP + daunorubicin(out) + H(+) + phosphate.", "evidence": [ { "id": "O88563", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O88563" } ] }, { "ec_number": "7.6.2.-", "activity": "", "evidence": [ { "id": "O88563", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O88563" } ] }, { "ec_number": "7.6.2.3", "activity": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate.", "evidence": [ { "id": "O88563", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O88563" } ] }, { "ec_number": "7.6.2.3", "activity": "", "evidence": [ { "id": "O88563", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O88563" } ] }, { "ec_number": "7.6.2.2", "activity": "", "evidence": [ { "id": "O88563", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O88563" } ] } ] }, { "uniprot_ac": "O95255", "gene_name": "ABCC6", "activity": [ { "ec_number": "7.6.2.3", "activity": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate.", "evidence": [ { "id": "O95255", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95255" } ] }, { "ec_number": "7.6.2.3", "activity": "", "evidence": [ { "id": "O95255", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95255" } ] }, { "ec_number": "7.6.2.-", "activity": "", "evidence": [ { "id": "O95255", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95255" } ] } ] }, { "uniprot_ac": "P13569", "gene_name": "CFTR", "activity": [ { "ec_number": "5.6.1.6", "activity": "ATP + H2O + closed Cl(-) channel = ADP + phosphate + open Cl(-) channel.", "evidence": [ { "id": "P13569", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13569" } ] }, { "ec_number": "5.6.1.6", "activity": "", "evidence": [ { "id": "P13569", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13569" } ] } ] }, { "uniprot_ac": "P33527", "gene_name": "ABCC1", "activity": [ { "ec_number": "7.6.2.3", "activity": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate.", "evidence": [ { "id": "P33527", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P33527" } ] }, { "ec_number": "7.6.2.3", "activity": "", "evidence": [ { "id": "P33527", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P33527" } ] }, { "ec_number": "7.6.2.2", "activity": "ATP + daunorubicin(in) + H2O = ADP + daunorubicin(out) + H(+) + phosphate.", "evidence": [ { "id": "P33527", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P33527" } ] }, { "ec_number": "7.6.2.2", "activity": "", "evidence": [ { "id": "P33527", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P33527" } ] } ] }, { "uniprot_ac": "P39109", "gene_name": "YCF1", "activity": [ { "ec_number": "7.6.2.3", "activity": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate.", "evidence": [ { "id": "P39109", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P39109" } ] }, { "ec_number": "7.2.2.2", "activity": "ATP + Cd(2+)(in) + H2O = ADP + Cd(2+)(out) + H(+) + phosphate.", "evidence": [ { "id": "P39109", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P39109" } ] } ] }, { "uniprot_ac": "P53049", "gene_name": "YOR1", "activity": [ { "ec_number": "7.6.2.3", "activity": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate.", "evidence": [ { "id": "P53049", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53049" } ] }, { "ec_number": "7.2.2.2", "activity": "ATP + Cd(2+)(in) + H2O = ADP + Cd(2+)(out) + H(+) + phosphate.", "evidence": [ { "id": "P53049", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53049" } ] } ] }, { "uniprot_ac": "Q15311", "gene_name": "RALBP1", "activity": [ { "ec_number": "7.6.2.2", "activity": "ATP + daunorubicin(in) + H2O = ADP + daunorubicin(out) + H(+) + phosphate.", "evidence": [ { "id": "Q15311", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15311" } ] }, { "ec_number": "7.6.2.3", "activity": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate.", "evidence": [ { "id": "Q15311", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15311" } ] } ] }, { "uniprot_ac": "Q5T3U5", "gene_name": "ABCC10", "activity": [ { "ec_number": "7.6.2.2", "activity": "ATP + daunorubicin(in) + H2O = ADP + daunorubicin(out) + H(+) + phosphate.", "evidence": [ { "id": "Q5T3U5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5T3U5" } ] }, { "ec_number": "7.6.2.3", "activity": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate.", "evidence": [ { "id": "Q5T3U5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5T3U5" } ] }, { "ec_number": "7.6.2.2", "activity": "", "evidence": [ { "id": "Q5T3U5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5T3U5" } ] }, { "ec_number": "7.6.2.3", "activity": "", "evidence": [ { "id": "Q5T3U5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5T3U5" } ] } ] }, { "uniprot_ac": "Q62172", "gene_name": "Ralbp1", "activity": [ { "ec_number": "7.6.2.2", "activity": "ATP + daunorubicin(in) + H2O = ADP + daunorubicin(out) + H(+) + phosphate.", "evidence": [ { "id": "Q62172", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q62172" } ] }, { "ec_number": "7.6.2.3", "activity": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate.", "evidence": [ { "id": "Q62172", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q62172" } ] } ] }, { "uniprot_ac": "Q62796", "gene_name": "Ralbp1", "activity": [ { "ec_number": "7.6.2.2", "activity": "ATP + daunorubicin(in) + H2O = ADP + daunorubicin(out) + H(+) + phosphate.", "evidence": [ { "id": "Q62796", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q62796" } ] }, { "ec_number": "7.6.2.3", "activity": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate.", "evidence": [ { "id": "Q62796", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q62796" } ] } ] }, { "uniprot_ac": "Q63120", "gene_name": "Abcc2", "activity": [ { "ec_number": "7.6.2.3", "activity": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate.", "evidence": [ { "id": "Q63120", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q63120" } ] }, { "ec_number": "7.6.2.3", "activity": "", "evidence": [ { "id": "Q63120", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q63120" } ] }, { "ec_number": "7.6.2.2", "activity": "ATP + daunorubicin(in) + H2O = ADP + daunorubicin(out) + H(+) + phosphate.", "evidence": [ { "id": "Q63120", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q63120" } ] }, { "ec_number": "7.6.2.-", "activity": "", "evidence": [ { "id": "Q63120", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q63120" } ] }, { "ec_number": "7.6.2.2", "activity": "", "evidence": [ { "id": "Q63120", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q63120" } ] } ] }, { "uniprot_ac": "Q8CG09", "gene_name": "Abcc1", "activity": [ { "ec_number": "7.6.2.2", "activity": "ATP + daunorubicin(in) + H2O = ADP + daunorubicin(out) + H(+) + phosphate.", "evidence": [ { "id": "Q8CG09", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8CG09" } ] }, { "ec_number": "7.6.2.3", "activity": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate.", "evidence": [ { "id": "Q8CG09", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8CG09" } ] }, { "ec_number": "7.6.2.2", "activity": "", "evidence": [ { "id": "Q8CG09", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8CG09" } ] }, { "ec_number": "7.6.2.3", "activity": "", "evidence": [ { "id": "Q8CG09", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8CG09" } ] } ] }, { "uniprot_ac": "Q8R4P9", "gene_name": "Abcc10", "activity": [ { "ec_number": "7.6.2.2", "activity": "ATP + daunorubicin(in) + H2O = ADP + daunorubicin(out) + H(+) + phosphate.", "evidence": [ { "id": "Q8R4P9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8R4P9" } ] }, { "ec_number": "7.6.2.3", "activity": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate.", "evidence": [ { "id": "Q8R4P9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8R4P9" } ] }, { "ec_number": "7.6.2.2", "activity": "", "evidence": [ { "id": "Q8R4P9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8R4P9" } ] }, { "ec_number": "7.6.2.3", "activity": "", "evidence": [ { "id": "Q8R4P9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8R4P9" } ] } ] }, { "uniprot_ac": "Q8VI47", "gene_name": "Abcc2", "activity": [ { "ec_number": "7.6.2.2", "activity": "ATP + daunorubicin(in) + H2O = ADP + daunorubicin(out) + H(+) + phosphate.", "evidence": [ { "id": "Q8VI47", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VI47" } ] }, { "ec_number": "7.6.2.-", "activity": "", "evidence": [ { "id": "Q8VI47", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VI47" } ] }, { "ec_number": "7.6.2.3", "activity": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate.", "evidence": [ { "id": "Q8VI47", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VI47" } ] }, { "ec_number": "7.6.2.3", "activity": "", "evidence": [ { "id": "Q8VI47", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VI47" } ] }, { "ec_number": "7.6.2.2", "activity": "", "evidence": [ { "id": "Q8VI47", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VI47" } ] } ] }, { "uniprot_ac": "Q92887", "gene_name": "ABCC2", "activity": [ { "ec_number": "7.6.2.2", "activity": "ATP + daunorubicin(in) + H2O = ADP + daunorubicin(out) + H(+) + phosphate.", "evidence": [ { "id": "Q92887", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92887" } ] }, { "ec_number": "7.6.2.-", "activity": "", "evidence": [ { "id": "Q92887", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92887" } ] }, { "ec_number": "7.6.2.3", "activity": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate.", "evidence": [ { "id": "Q92887", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92887" } ] }, { "ec_number": "7.6.2.3", "activity": "", "evidence": [ { "id": "Q92887", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92887" } ] }, { "ec_number": "7.6.2.2", "activity": "", "evidence": [ { "id": "Q92887", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92887" } ] } ] }, { "uniprot_ac": "Q96J66", "gene_name": "ABCC11", "activity": [ { "ec_number": "7.6.2.2", "activity": "ATP + daunorubicin(in) + H2O = ADP + daunorubicin(out) + H(+) + phosphate.", "evidence": [ { "id": "Q96J66", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96J66" } ] }, { "ec_number": "7.6.2.3", "activity": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate.", "evidence": [ { "id": "Q96J66", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96J66" } ] }, { "ec_number": "7.6.2.2", "activity": "", "evidence": [ { "id": "Q96J66", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96J66" } ] }, { "ec_number": "7.6.2.3", "activity": "", "evidence": [ { "id": "Q96J66", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96J66" } ] } ] }, { "uniprot_ac": "Q9R1S7", "gene_name": "Abcc6", "activity": [ { "ec_number": "7.6.2.-", "activity": "", "evidence": [ { "id": "Q9R1S7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9R1S7" } ] }, { "ec_number": "7.6.2.3", "activity": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate.", "evidence": [ { "id": "Q9R1S7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9R1S7" } ] }, { "ec_number": "7.6.2.3", "activity": "", "evidence": [ { "id": "Q9R1S7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9R1S7" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 15 ], "o_linked_sites": [], "snv_sites": [ 398, 402, 562, 580, 614, 618, 712, 898, 931, 1268 ], "glycation_sites": [], "phosphorylation_sites": [ 278, 902, 1286 ], "sequon_annotation_sites": [ { "start_pos": 1222, "end_pos": 1224 }, { "start_pos": 15, "end_pos": 17 }, { "start_pos": 243, "end_pos": 245 }, { "start_pos": 259, "end_pos": 261 }, { "start_pos": 650, "end_pos": 652 }, { "start_pos": 704, "end_pos": 706 }, { "start_pos": 752, "end_pos": 754 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 10 }, { "field": "total_sites", "count": 10 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 96 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }