{ "uniprot_canonical_ac": "O00628-1", "uniprot_ac": "O00628", "uniprot_id": "PEX7_HUMAN", "mass": { "chemical_mass": 35892.0, "monoisotopic_mass": 35892.0 }, "refseq": { "ac": "NP_000279", "name": "peroxisomal biogenesis factor 7 isoform 1", "summary": "This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD). [provided by RefSeq, Oct 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000279" }, "gene_names": [ { "name": "PEX7", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00628", "id": "O00628" }, { "name": "PBD9B; PTS2R; RCDP1; RD", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000279", "id": "NP_000279" }, { "name": "PEX7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000279", "id": "NP_000279" }, { "name": "PTS2R", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00628", "id": "O00628" } ], "protein_names": [ { "name": "Peroxisomal targeting signal 2 receptor", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00628" }, { "name": "PTS2 receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00628" }, { "name": "Peroxin-7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00628" }, { "name": "peroxin-7; peroxisomal targeting signal 2 receptor; peroxisome targeting signal 2 receptor; peroxisomal PTS2 receptor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000279", "id": "NP_000279" }, { "name": "peroxisomal biogenesis factor 7 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000279", "id": "NP_000279" } ], "function": [ { "annotation": "Data suggest that P7BP2 is localized to peroxisomes by binding to PEX5 via PEX7 in manner dependent on apparent PTS2 (type 2 peroxisomal targeting signal peptide) in N-terminal region of P7BP2; the PTS2 is subsequently cleaved off in peroxisomes. (P7BP2 = PEX7-binding protein-2; PEX5 = peroxisomal biogenesis factor-5; PEX7 = peroxisomal biogenesis factor-7)", "evidence": [ { "database": "RefSeq", "id": "NP_000279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000279" }, { "database": "PubMed", "id": "30204880", "url": "https://glygen.org/publication/PubMed/30204880" } ] }, { "annotation": "Receptor required for the peroxisomal import of proteins containing a C-terminal PTS2-type peroxisomal targeting signal (PubMed:9090381, PubMed:11931631, PubMed:22057399, PubMed:25538232). Specifically binds to cargo proteins containing a PTS2 peroxisomal targeting signal in the cytosol (PubMed:11931631, PubMed:22057399, PubMed:25538232). Cargo protein-binding triggers interaction with PEX5 and formation of a ternary complex composed of PEX5 and PEX7 along with PTS2-containing cargo proteins, which is tranlocated into peroxisomes by passing through the PEX13-PEX14 docking complex (PubMed:11546814, PubMed:25538232).", "evidence": [ { "database": "UniProtKB", "id": "O00628", "url": "https://www.uniprot.org/uniprot/O00628#function" }, { "database": "PubMed", "id": "9090381", "url": "https://glygen.org/publication/PubMed/9090381" }, { "database": "PubMed", "id": "11546814", "url": "https://glygen.org/publication/PubMed/11546814" }, { "database": "PubMed", "id": "25538232", "url": "https://glygen.org/publication/PubMed/25538232" }, { "database": "PubMed", "id": "11931631", "url": "https://glygen.org/publication/PubMed/11931631" }, { "database": "PubMed", "id": "22057399", "url": "https://glygen.org/publication/PubMed/22057399" } ] }, { "annotation": "This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD). [provided by RefSeq, Oct 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000279" } ] }, { "annotation": "This revealed a marked plasmalogen deficiency and a deficient fatty acid alpha-oxidation in the IHH cells, due to a defect of PEX7, a cytosolic receptor protein required for peroxisomal import of a subset of peroxisomal proteins.", "evidence": [ { "database": "RefSeq", "id": "NP_000279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000279" }, { "database": "PubMed", "id": "28013369", "url": "https://glygen.org/publication/PubMed/28013369" } ] }, { "annotation": "Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9B.", "evidence": [ { "database": "RefSeq", "id": "NP_000279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000279" }, { "database": "PubMed", "id": "33586206", "url": "https://glygen.org/publication/PubMed/33586206" } ] } ], "disease": [ { "disease_id": "DOID:0110851", "recommended_name": { "id": "DOID:0110851", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110851", "name": "rhizomelic chondrodysplasia punctata type 1", "description": "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3." }, "synonyms": [ { "id": "DOID:0110851", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110851", "name": "Pbd9", "description": "" }, { "id": "DOID:0110851", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110851", "name": "Peroxisome Biogenesis Disorder 9", "description": "" }, { "id": "DOID:0110851", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110851", "name": "Rcdp1", "description": "" }, { "id": "MONDO:0008972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008972", "name": "rhizomelic chondrodysplasia punctata type 1", "description": "A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause." }, { "id": "MONDO:0008972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008972", "name": "PEX7 rhizomelic chondrodysplasia punctata", "description": "" }, { "id": "MONDO:0008972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008972", "name": "Pbd9", "description": "" }, { "id": "MONDO:0008972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008972", "name": "Rcdp1", "description": "" }, { "id": "MONDO:0008972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008972", "name": "peroxisome biogenesis disorder 9", "description": "" }, { "id": "MONDO:0008972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008972", "name": "rhizomelic chondrodysplasia punctata caused by mutation in PEX7", "description": "" }, { "id": "MONDO:0008972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008972", "name": "rhizomelic chondrodysplasia punctata type 1", "description": "" }, { "id": "MONDO:0008972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008972", "name": "rhizomelic chondrodysplasia punctata, type 1", "description": "" }, { "id": "MONDO:0008972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008972", "name": "RCDP1", "description": "" }, { "id": "MONDO:0008972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008972", "name": "chondrodysplasia punctata, rhizomelic form", "description": "" }, { "id": "MONDO:0008972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008972", "name": "chondrodystrophia calcificans punctata", "description": "" }, { "id": "MIM:215100", "resource": "MIM", "url": "https://www.omim.org/entry/215100", "name": "Rhizomelic chondrodysplasia punctata 1", "description": "Rhizomelic chondrodysplasia punctata 1" } ], "evidence": [ { "id": "215100", "database": "MIM", "url": "https://www.omim.org/entry/215100" } ] }, { "disease_id": "DOID:2580", "recommended_name": { "id": "DOID:2580", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2580", "name": "rhizomelic chondrodysplasia punctata", "description": "A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity." }, "synonyms": [ { "id": "DOID:2580", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2580", "name": "Chondrodysplasia Punctata, Rhizomelic Form", "description": "" }, { "id": "MONDO:0008972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008972", "name": "rhizomelic chondrodysplasia punctata type 1", "description": "A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause." }, { "id": "MONDO:0008972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008972", "name": "PEX7 rhizomelic chondrodysplasia punctata", "description": "" }, { "id": "MONDO:0008972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008972", "name": "Pbd9", "description": "" }, { "id": "MONDO:0008972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008972", "name": "Rcdp1", "description": "" }, { "id": "MONDO:0008972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008972", "name": "peroxisome biogenesis disorder 9", "description": "" }, { "id": "MONDO:0008972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008972", "name": "rhizomelic chondrodysplasia punctata caused by mutation in PEX7", "description": "" }, { "id": "MONDO:0008972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008972", "name": "rhizomelic chondrodysplasia punctata type 1", "description": "" }, { "id": "MONDO:0008972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008972", "name": "rhizomelic chondrodysplasia punctata, type 1", "description": "" }, { "id": "MONDO:0008972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008972", "name": "RCDP1", "description": "" }, { "id": "MONDO:0008972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008972", "name": "chondrodysplasia punctata, rhizomelic form", "description": "" }, { "id": "MONDO:0008972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008972", "name": "chondrodystrophia calcificans punctata", "description": "" }, { "id": "MIM:215100", "resource": "MIM", "url": "https://www.omim.org/entry/215100", "name": "Rhizomelic chondrodysplasia punctata 1", "description": "Rhizomelic chondrodysplasia punctata 1" } ], "evidence": [ { "id": "215100", "database": "MIM", "url": "https://www.omim.org/entry/215100" } ] }, { "disease_id": "MONDO:0013945", "recommended_name": { "id": "MONDO:0013945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013945", "name": "peroxisome biogenesis disorder 9B", "description": "" }, "synonyms": [ { "id": "MONDO:0013945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013945", "name": "peroxisome biogenesis disorder 9B", "description": "" }, { "id": "MONDO:0013945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013945", "name": "peroxisome biogenesis disorder type 9B", "description": "" }, { "id": "MONDO:0013945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013945", "name": "PBD9B", "description": "" }, { "id": "MONDO:0013945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013945", "name": "Refsum disease, adult, 2", "description": "" }, { "id": "MONDO:0013945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013945", "name": "peroxisome biogenesis disorder, PEX7-related, atypical", "description": "" }, { "id": "MONDO:0013945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013945", "name": "peroxisome biogenesis disorder, complementation group 11", "description": "" }, { "id": "MONDO:0013945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013945", "name": "peroxisome biogenesis disorder, complementation group R", "description": "" }, { "id": "MIM:614879", "resource": "MIM", "url": "https://www.omim.org/entry/614879", "name": "Peroxisome biogenesis disorder 9B", "description": "Peroxisome biogenesis disorder 9B" } ], "evidence": [ { "id": "614879", "database": "MIM", "url": "https://www.omim.org/entry/614879" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 113, "end_pos": 113, "sequence_org": "E", "sequence_mut": "R", "comment": "Impaired binding to cargo proteins containing a PTS2 peroxisomal targeting signal.", "evidence": [ { "database": "UniProtKB", "id": "O00628", "url": "https://www.uniprot.org/uniprot/O00628" }, { "database": "PubMed", "id": "25538232", "url": "https://glygen.org/publication/PubMed/25538232" }, { "database": "PubMed", "id": "22057399", "url": "https://glygen.org/publication/PubMed/22057399" } ] }, { "start_pos": 200, "end_pos": 200, "sequence_org": "E", "sequence_mut": "R", "comment": "Impaired binding to cargo proteins containing a PTS2 peroxisomal targeting signal.", "evidence": [ { "database": "UniProtKB", "id": "O00628", "url": "https://www.uniprot.org/uniprot/O00628" }, { "database": "PubMed", "id": "25538232", "url": "https://glygen.org/publication/PubMed/25538232" }, { "database": "PubMed", "id": "22057399", "url": "https://glygen.org/publication/PubMed/22057399" } ] }, { "start_pos": 287, "end_pos": 287, "sequence_org": "E", "sequence_mut": "R", "comment": "Impaired interaction with PEX5, leading to decreased peroxisomal import of proteins containing a PTS2 peroxisomal targeting signal.", "evidence": [ { "database": "UniProtKB", "id": "O00628", "url": "https://www.uniprot.org/uniprot/O00628" }, { "database": "PubMed", "id": "25538232", "url": "https://glygen.org/publication/PubMed/25538232" }, { "database": "PubMed", "id": "22057399", "url": "https://glygen.org/publication/PubMed/22057399" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "83.01", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000112357", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112357" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "74.19", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000112357", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112357" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "77.41", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000112357", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112357" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "62.51", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000112357", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112357" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "79.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000112357", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112357" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "83.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000112357", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112357" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "65.18", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000112357", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112357" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "78.37", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000112357", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112357" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "79.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000112357", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112357" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "64.22", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000112357", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112357" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "75.54", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000112357", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112357" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "80.7", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000112357", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112357" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "80.34", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000112357", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112357" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O00628", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00628" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00628", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00628" } ], "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": "O00628", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00628" } ], "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 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"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": "O00628", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00628" } ], "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": "No", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O00628", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00628" } ], "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": 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O00628", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00628" } ], "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": "O00628", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00628" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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OS=Homo sapiens OX=9606 GN=PEX7 PE=1 SV=1 CANONICAL=O00628-1" }, "locus": { "chromosome": "6", "start_pos": 136913523, "end_pos": 136823364, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678557.1", "url": "https://www.ensembl.org/id/ENST00000678557.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502962.1", "url": "https://www.ensembl.org/id/ENSP00000502962.1" } ] } }, { "isoform_ac": "A0A7I2V2W7-1", "url": "", "sequence": { "sequence": "MKRRCGTLLILDPDEAGLRLFRSFDWNDGLFDVTWSENNEHVLITCSGDGSLQLWDTAKAAGPLQVYKEHAQEVYSVDWSQTRGEQLVVSGSWDQTVKLWDPTVGKSLCTFRGHESIIYSTIWSPHIPGCFASASGDQTLRIWDVKAAGVRIVIPAHQAEILSCDWCKYNENLLVTGAVDCSLRGWDLRNVRQPVFELLGHTYAIRRVKFSPFHASVLASCSYDFTVRFWNFSKPDSLLETVEHHTEFTCGLDFSLQSPTQVADCSWDETIKIYDPACLTIPA", "length": 283, "header": "tr|A0A7I2V2W7-1|A0A7I2V2W7_HUMAN Computationally mapped isoform of Peroxin-7 OS=Homo sapiens OX=9606 GN=PEX7 PE=1 SV=1 CANONICAL=O00628-1" }, "locus": { "chromosome": "6", "start_pos": 136913523, "end_pos": 136823923, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000679286.1", "url": "https://www.ensembl.org/id/ENST00000679286.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503168.1", "url": "https://www.ensembl.org/id/ENSP00000503168.1" } ] } }, { "isoform_ac": "A0A7I2V3V6-1", "url": "", "sequence": { "sequence": "XCGTLLILDPDEAGLRLFRSVALTGMMVCLM", "length": 31, "header": "tr|A0A7I2V3V6-1|A0A7I2V3V6_HUMAN Computationally mapped isoform of Peroxisomal biogenesis factor 7 OS=Homo sapiens OX=9606 GN=PEX7 PE=4 SV=1 CANONICAL=O00628-1" }, "locus": { "chromosome": "6", "start_pos": 136826348, "end_pos": 136825214, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678002.1", "url": "https://www.ensembl.org/id/ENST00000678002.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503726.1", "url": "https://www.ensembl.org/id/ENSP00000503726.1" } ] } }, { "isoform_ac": "A0A7I2YQJ4-1", "url": "", "sequence": { "sequence": "MSAVCGGAARMLRTPGRHGYAAEFSPYLPGRLACATAQHYGIAGCGTLLILDPDEAGLRLFRSVALTGMMVCLM", "length": 74, "header": "tr|A0A7I2YQJ4-1|A0A7I2YQJ4_HUMAN Computationally mapped isoform of Peroxisomal biogenesis factor 7 OS=Homo sapiens OX=9606 GN=PEX7 PE=1 SV=1 CANONICAL=O00628-1" }, "locus": { "chromosome": "6", "start_pos": 136826347, "end_pos": 136822666, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678593.1", "url": "https://www.ensembl.org/id/ENST00000678593.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503841.1", "url": "https://www.ensembl.org/id/ENSP00000503841.1" } ] } }, { "isoform_ac": "O00628-1", "url": "", "sequence": { "sequence": "MSAVCGGAARMLRTPGRHGYAAEFSPYLPGRLACATAQHYGIAGCGTLLILDPDEAGLRLFRSFDWNDGLFDVTWSENNEHVLITCSGDGSLQLWDTAKAAGPLQVYKEHAQEVYSVDWSQTRGEQLVVSGSWDQTVKLWDPTVGKSLCTFRGHESIIYSTIWSPHIPGCFASASGDQTLRIWDVKAAGVRIVIPAHQAEILSCDWCKYNENLLVTGAVDCSLRGWDLRNVRQPVFELLGHTYAIRRVKFSPFHASVLASCSYDFTVRFWNFSKPDSLLETVEHHTEFTCGLDFSLQSPTQVADCSWDETIKIYDPACLTIPA", "length": 323, "header": "sp|O00628-1|PEX7_HUMAN Isoform 1 of Peroxisomal targeting signal 2 receptor OS=Homo sapiens OX=9606 GN=PEX7 PE=1 SV=1 CANONICAL=O00628-1" }, "locus": { "chromosome": "6", "start_pos": 136913523, "end_pos": 136822666, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000318471.5", "url": "https://www.ensembl.org/id/ENST00000318471.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000315680.3", "url": "https://www.ensembl.org/id/ENSP00000315680.3" } ] } }, { "isoform_ac": "O00628-2", "url": "", "sequence": { "sequence": "MSAVCGGAARMLRTPGRHGYAAEFSPYLPGRLACATAQHYGIAGCGTLLILDPDEAGLRLFRSFDWNDGLFDVTWSENNEHVLITCSGDGSLQLWDTAKAAGPLQVYKEHAQEVYSVDWSQTRGEQLVVSGSWDQTVKLWDPTVGKSLCTFRGHESIIYSTIWSPHIPGCFASASGDQTLRIWDVKAAGVRIVIPAHQAEILSCDWCKYNENLLVTGAVDCSLRGWDLRNVRQPVFELLGHTYAIRRVKMESCPVTQTRSQLTATSAFWVQAVLLPQPTE", "length": 280, "header": "sp|O00628-2|PEX7_HUMAN Isoform 2 of Peroxisomal targeting signal 2 receptor OS=Homo sapiens OX=9606 GN=PEX7 PE=1 SV=1 CANONICAL=O00628-1" }, "locus": { "chromosome": "6", "start_pos": 136870824, "end_pos": 136822666, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000541292.6", "url": "https://www.ensembl.org/id/ENST00000541292.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000441004.1", "url": "https://www.ensembl.org/id/ENSP00000441004.1" } ] } }, { "isoform_ac": "Q5TDQ5-1", "url": "", "sequence": { "sequence": "MSAVCGGAARMLRTPGRHGYAAEFSPYLPGRLACATAQHYGIAGCGTLLILDPDEAGLRLFRSFDWNDGLFDVTWSENNEHVLITCSGDGSLQLWDTAKAAGPLQVYKEHAQEYVQGSCVVK", "length": 122, "header": "tr|Q5TDQ5-1|Q5TDQ5_HUMAN Computationally mapped isoform of Peroxin-7 OS=Homo sapiens OX=9606 GN=PEX7 PE=1 SV=1 CANONICAL=O00628-1" }, "locus": { "chromosome": "6", "start_pos": 136830033, "end_pos": 136822666, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000367756.8", "url": "https://www.ensembl.org/id/ENST00000367756.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000356730.4", "url": "https://www.ensembl.org/id/ENSP00000356730.4" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Identification and characterization of the human orthologue of yeast Pex14p.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Will GK, Soukupova M, Hong X, Erdmann KS, Kiel JA, Dodt G, Kunau WH, Erdmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "10022913", "url": "https://glygen.org/publication/PubMed/10022913" } ] }, { "title": "PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import.", "journal": "The Journal of cell biology", "date": "1999", "authors": "Chang CC, Warren DS, Sacksteder KA, Gould SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "10562279", "url": "https://glygen.org/publication/PubMed/10562279" } ] }, { "title": "PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter.", "journal": "Genomics", "date": "2000", "authors": "Braverman N, Steel G, Lin P, Moser A, Moser H, Valle D", "evidence": [ { "database": "UniProtKB", "id": "O00628", "url": "https://www.uniprot.org/uniprot/O00628" }, { "database": "Reactome", "id": "R-HSA-9033241", "url": 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"https://www.uniprot.org/uniprot/O00628" }, { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "11546814", "url": "https://glygen.org/publication/PubMed/11546814" } ] }, { "title": "Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.", "journal": "American journal of human genetics", "date": "2002", "authors": "Motley AM, Brites P, Gerez L, Hogenhout E, Haasjes J, Benne R, Tabak HF, Wanders RJ, Waterham HR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "11781871", "url": "https://glygen.org/publication/PubMed/11781871" } ] }, { "title": "Functional studies on human Pex7p: subcellular localization and interaction with proteins containing a peroxisome-targeting 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"28765278", "url": "https://glygen.org/publication/PubMed/28765278" } ] }, { "title": "Protein transport into peroxisomes: Knowns and unknowns.", "journal": "BioEssays : news and reviews in molecular, cellular and developmental biology", "date": "2017", "authors": "Francisco T, Rodrigues TA, Dias AF, Barros-Barbosa A, Bicho D, Azevedo JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "28787099", "url": "https://glygen.org/publication/PubMed/28787099" } ] }, { "title": "A newly isolated Pex7-binding, atypical PTS2 protein P7BP2 is a novel dynein-type AAA+ protein.", "journal": "J. Biochem.", "date": "2018", "authors": "Niwa H, Miyauchi-Nanri Y, Okumoto K, Mukai S, Noi K, Ogura T, Fujiki Y", "evidence": [ { "database": "UniProtKB", "id": "O00628", "url": "https://www.uniprot.org/uniprot/O00628" }, { "database": "RefSeq", "id": "NP_000279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000279" } ], "reference": [ { "type": "PubMed", "id": "30204880", "url": "https://glygen.org/publication/PubMed/30204880" } ] }, { "title": "A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes.", "journal": "Hum. Genet.", "date": "2021", "authors": "Ali M, Khan SY, Rodrigues TA, Francisco T, Jiao X, Qi H, Kabir F, Irum B, Rauf B, Khan AA, Mehmood A, Naeem MA, Assir MZ, Ali MH, Shahzad M, Abu-Amero KK, Akram SJ, Akram J, Riazuddin S, Riazuddin S, Robinson ML, Baes M, Azevedo JE, Hejtmancik JF, Riazuddin SA", "evidence": [ { "database": "UniProtKB", "id": "O00628", "url": "https://www.uniprot.org/uniprot/O00628" } ], "reference": [ { "type": "PubMed", "id": "33389129", "url": "https://glygen.org/publication/PubMed/33389129" } ] }, { "title": "Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9B.", "journal": "American journal of medical genetics. 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