{ "uniprot_canonical_ac": "O75352-1", "uniprot_ac": "O75352", "uniprot_id": "MPU1_HUMAN", "mass": { "chemical_mass": 26638.0, "monoisotopic_mass": 26638.0 }, "refseq": { "ac": "NP_001317002", "name": "mannose-P-dolichol utilization defect 1 protein isoform 2", "summary": "This gene encodes an endoplasmic reticulum membrane protein that is required for utilization of the mannose donor mannose-P-dolichol in the synthesis of lipid-linked oligosaccharides and glycosylphosphatidylinositols. Mutations in this gene result in congenital disorder of glycosylation type If. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317002" }, "gene_names": [ { "name": "MPDU1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75352", "id": "O75352" }, { "name": "CDGIF; HBEBP2BPA; Lec35; My008; PP3958; PQLC5; SL15; SLC66A5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317002", "id": "NP_001317002" }, { "name": "MPDU1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317002", "id": "NP_001317002" } ], "protein_names": [ { "name": "Mannose-P-dolichol utilization defect 1 protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75352" }, { "name": "SL15", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75352" }, { "name": "Suppressor of Lec15 and Lec35 glycosylation mutation homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75352" }, { "name": "mannose-P-dolichol utilization defect 1 protein isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317002", "id": "NP_001317002" }, { "name": "mannose-P-dolichol utilization defect 1 protein; suppressor of Lec15 and Lec35 glycosylation mutation homolog; HBeAg-binding protein 2 binding protein A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317002", "id": "NP_001317002" } ], "function": [ { "annotation": "Required for normal utilization of mannose-dolichol phosphate (Dol-P-Man) in the synthesis of N-linked and O-linked oligosaccharides and GPI anchors.", "evidence": [ { "database": "UniProtKB", "id": "O75352", "url": "https://www.uniprot.org/uniprot/O75352#function" } ] }, { "annotation": "These experiments also confirmed that protein levels of CEACAM-1, which functions in cell adhesion, is dependent on LLO biosynthesis in vivo. Kato III cells and the MPDU1-rescued Kato IIIM cells therefore provide a novel model to examine the consequences of defective LLO biosynthesis both in vitro and in vivo.", "evidence": [ { "database": "RefSeq", "id": "NP_001317002", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317002" }, { "database": "PubMed", "id": "29671116", "url": "https://glygen.org/publication/PubMed/29671116" } ] }, { "annotation": "This gene encodes an endoplasmic reticulum membrane protein that is required for utilization of the mannose donor mannose-P-dolichol in the synthesis of lipid-linked oligosaccharides and glycosylphosphatidylinositols. Mutations in this gene result in congenital disorder of glycosylation type If. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001317002", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317002" } ] } ], "disease": [ { "disease_id": "DOID:0080558", "recommended_name": { "id": "DOID:0080558", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080558", "name": "congenital disorder of glycosylation If", "description": "A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and has_material_basis_in homozygous or compound heterozygous mutation in the MPDU1 gene on chromosome 17p13." }, "synonyms": [ { "id": "DOID:0080558", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080558", "name": "congenital disorder of glycosylation 1f", "description": "" }, { "id": "MONDO:0012211", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012211", "name": "MPDU1-congenital disorder of glycosylation", "description": "The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies." }, { "id": "MONDO:0012211", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012211", "name": "CDG syndrome type If", "description": "" }, { "id": "MONDO:0012211", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012211", "name": "CDG-If", "description": "" }, { "id": "MONDO:0012211", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012211", "name": "CDG1F", "description": "" }, { "id": "MONDO:0012211", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012211", "name": "CDGIf", "description": "" }, { "id": "MONDO:0012211", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012211", "name": "MPDU1-CDG", "description": "" }, { "id": "MONDO:0012211", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012211", "name": "carbohydrate deficient glycoprotein syndrome type If", "description": "" }, { "id": "MONDO:0012211", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012211", "name": "congenital disorder of glycosylation type 1f", "description": "" }, { "id": "MONDO:0012211", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012211", "name": "congenital disorder of glycosylation type If", "description": "" }, { "id": "MONDO:0012211", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012211", "name": "CDG 1F", "description": "" }, { "id": "MONDO:0012211", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012211", "name": "CDG If", "description": "" }, { "id": "MONDO:0012211", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012211", "name": "MPDU1-CDG (CDG-If)", "description": "" }, { "id": "MONDO:0012211", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012211", "name": "carbohydrate-deficient glycoprotein syndrome type 1F", "description": "" }, { "id": "MONDO:0012211", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012211", "name": "congenital disorder of glycosylation, type If", "description": "" }, { "id": "MIM:609180", "resource": "MIM", "url": "https://www.omim.org/entry/609180", "name": "Congenital disorder of glycosylation 1F", "description": "Congenital disorder of glycosylation 1F" } ], "evidence": [ { "id": "0012211", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012211" }, { "id": "609180", "database": "MIM", "url": "https://www.omim.org/entry/609180" }, { "id": "MPDU1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/MPDU1/#!details" }, { "id": "9526", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/9526#disease" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "90.38", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129255", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129255" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "83.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129255", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129255" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "92.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129255", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129255" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "69.84", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000129255", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129255" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "90.77", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129255", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129255" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "98.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129255", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129255" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "90.47", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129255", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129255" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "85.13", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129255", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129255" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "92.18", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129255", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129255" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129255", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129255" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "92.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129255", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129255" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "94.58", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129255", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129255" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "90.88", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129255", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129255" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75352", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75352" } ], "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": "O75352", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75352" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75352", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75352" } ], "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": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O75352", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75352" } ], "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": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O75352", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75352" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O75352", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75352" } ], "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": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75352", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75352" } ], "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": "No", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O75352", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75352" } ], "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": "O75352", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75352" } ], "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": "O75352", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75352" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O75352", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75352" } ], "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": "O75352", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75352" } ], "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": "O75352", "url": "https://www.uniprot.org/uniprot/O75352" } ], "common_name": "Human" } ], "gene": [ { "name": "MPDU1", "url": "https://www.uniprot.org/uniprot/O75352", "locus": { "chromosome": "17", "start_pos": 7592789, "end_pos": 7583529, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000129255", "url": "https://www.ensembl.org/id/ENSG00000129255" } ] } } ], "crossref": [ { "id": "ENSG00000129255", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129255", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "MPDU1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=MPDU1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "9526", "url": "https://www.ncbi.nlm.nih.gov/gene/9526", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "7207", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7207", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O75352", "url": "https://www.ebi.ac.uk/intact/interactors/id:O75352*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR006603", "url": "https://www.ebi.ac.uk/interpro/entry/IPR006603", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016817", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016817", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:9526", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9526", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "604041", "url": "http://www.omim.org/entry/604041", "database": "MIM", "categories": [ "Other" ] }, { "id": "609180", "url": "http://www.omim.org/entry/609180", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75352", "url": "https://www.nextprot.org/entry/NX_O75352", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O75352", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75352", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "LQVLYYW", "url": "https://omabrowser.org/oma/group/LQVLYYW/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "7736at2759", "url": "http://www.orthodb.org/?query=7736at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12226", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12226", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12226:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12226:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF04193", "url": "http://pfam.xfam.org/family/PF04193", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75352", "url": "https://pharos.nih.gov/targets/O75352", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75352", "url": "http://purl.obolibrary.org/obo/PR_O75352", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-446193", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446193", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-4687000", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4687000", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001317002", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317002", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "I3L1D2", "url": "https://www.uniprot.org/uniprot/I3L1D2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L1D2-1", "url": "https://www.uniprot.org/uniprot/I3L1D2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L261", "url": "https://www.uniprot.org/uniprot/I3L261", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L261-1", "url": "https://www.uniprot.org/uniprot/I3L261-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L295", "url": "https://www.uniprot.org/uniprot/I3L295", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L295-1", "url": "https://www.uniprot.org/uniprot/I3L295-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L405", "url": "https://www.uniprot.org/uniprot/I3L405", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L405-1", "url": "https://www.uniprot.org/uniprot/I3L405-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L4E0", "url": "https://www.uniprot.org/uniprot/I3L4E0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L4E0-1", "url": "https://www.uniprot.org/uniprot/I3L4E0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L4T1", "url": "https://www.uniprot.org/uniprot/I3L4T1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L4T1-1", "url": "https://www.uniprot.org/uniprot/I3L4T1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KSI4", "url": "https://www.uniprot.org/uniprot/J3KSI4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KSI4-1", "url": "https://www.uniprot.org/uniprot/J3KSI4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KT75", "url": "https://www.uniprot.org/uniprot/J3KT75", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KT75-1", "url": "https://www.uniprot.org/uniprot/J3KT75-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KTK8", "url": "https://www.uniprot.org/uniprot/J3KTK8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KTK8-1", "url": "https://www.uniprot.org/uniprot/J3KTK8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QQZ4", "url": "https://www.uniprot.org/uniprot/J3QQZ4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QQZ4-1", "url": "https://www.uniprot.org/uniprot/J3QQZ4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QRD5", "url": "https://www.uniprot.org/uniprot/J3QRD5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QRD5-1", "url": "https://www.uniprot.org/uniprot/J3QRD5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QS48", "url": "https://www.uniprot.org/uniprot/J3QS48", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QS48-1", "url": "https://www.uniprot.org/uniprot/J3QS48-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QW43", "url": "https://www.uniprot.org/uniprot/J3QW43", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QW43-1", "url": "https://www.uniprot.org/uniprot/J3QW43-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75352", "url": "https://www.uniprot.org/uniprot/O75352", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75352-1", "url": "https://www.uniprot.org/uniprot/O75352-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75352-2", "url": "https://www.uniprot.org/uniprot/O75352-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAAEADGPLKRLLVPILLPEKCYDQLFVQWDLLHVPCLKILLSKGLGLGIVAGSLLVKLPQVFKILGAKSAEGLSLQSVMLELVALTGTMVYSITNNFPFSSWGEALFLMLQTITICFLVMHYRGQTVKGVAFLACYGLVLLVLLSPLTPLTVVTLLQASNVPAVVVGRLLQAATNYHNGHTGQLSAITVFLLFGGSLARIFTSIQETGDPLMAGTFVVSSLCNGLIAAQLLFYWNAKPPHKQKKAQ", "length": 247, "header": "sp|O75352-1|MPU1_HUMAN Isoform 1 of Mannose-P-dolichol utilization defect 1 protein OS=Homo sapiens OX=9606 GN=MPDU1 PE=1 SV=2 CANONICAL=O75352-1" }, "isoforms": [ { "isoform_ac": "I3L1D2-1", "url": "", "sequence": { "sequence": "MAAEADGPLKRLLVPILLPEKCYDQLFVQWDLLHVPCLKILLSKGLGLGIVAGSLLAAPGV", "length": 61, "header": "tr|I3L1D2-1|I3L1D2_HUMAN Computationally mapped isoform of Mannose-P-dolichol utilization defect 1 OS=Homo sapiens OX=9606 GN=MPDU1 PE=1 SV=1 CANONICAL=O75352-1" }, "locus": { "chromosome": "17", "start_pos": 7585964, "end_pos": 7583863, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000359822.10", "url": "https://www.ensembl.org/id/ENST00000359822.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000352876.6", "url": "https://www.ensembl.org/id/ENSP00000352876.6" } ] } }, { "isoform_ac": "I3L261-1", "url": "", "sequence": { "sequence": "XADGPLKRLLVPILLPEKCYDQLFVQWDLLHVPCLKILLSKGLGLGIVAGSLLALGVKPYS", "length": 61, "header": "tr|I3L261-1|I3L261_HUMAN Computationally mapped isoform of Mannose-P-dolichol utilization defect 1 OS=Homo sapiens OX=9606 GN=MPDU1 PE=1 SV=2 CANONICAL=O75352-1" }, "locus": { "chromosome": "17", "start_pos": 7586716, "end_pos": 7583874, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000570458.5", "url": "https://www.ensembl.org/id/ENST00000570458.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000459409.1", "url": "https://www.ensembl.org/id/ENSP00000459409.1" } ] } }, { "isoform_ac": "I3L295-1", "url": "", "sequence": { "sequence": "MAAEADGPLKRLLVPILLPEKCYDQLFVQWDLLHVPCLKILLSKGLGLGIVAGSLLVKLPQVFKILGAKSAEGLSLQSVMLELVALTGTMVYSITNNFPFRPAFLPPNS", "length": 109, "header": "tr|I3L295-1|I3L295_HUMAN Computationally mapped isoform of Mannose-P-dolichol utilization defect 1 OS=Homo sapiens OX=9606 GN=MPDU1 PE=1 SV=1 CANONICAL=O75352-1" }, "locus": { "chromosome": "17", "start_pos": 7586680, "end_pos": 7583863, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000580834.5", "url": "https://www.ensembl.org/id/ENST00000580834.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000463056.1", "url": "https://www.ensembl.org/id/ENSP00000463056.1" } ] } }, { "isoform_ac": "I3L405-1", "url": "", "sequence": { "sequence": "XLKRLLVPILLPEKCYDQLFVQWDLLHVPCLKILLSKGLGLGIVAGSLLAAPGV", "length": 54, "header": "tr|I3L405-1|I3L405_HUMAN Computationally mapped isoform of Mannose-P-dolichol utilization defect 1 OS=Homo sapiens OX=9606 GN=MPDU1 PE=1 SV=2 CANONICAL=O75352-1" }, "locus": { "chromosome": "17", "start_pos": 7585965, "end_pos": 7583885, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000576272.5", "url": "https://www.ensembl.org/id/ENST00000576272.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000460864.1", "url": "https://www.ensembl.org/id/ENSP00000460864.1" } ] } }, { "isoform_ac": "I3L4E0-1", "url": "", "sequence": { "sequence": "MAAEADGPLKRLLVPILLPEKCYDQLFVQWDLLHDISCLLTLFSLLSPLPQDSPQQRPGAGHCGWLTSSKAAPGV", "length": 75, "header": "tr|I3L4E0-1|MPU1_HUMAN Computationally mapped isoform of Mannose-P-dolichol utilization defect 1 protein OS=Homo sapiens OX=9606 GN=MPDU1 PE=1 SV=1 CANONICAL=O75352-1" }, "locus": { "chromosome": "17", "start_pos": 7585964, "end_pos": 7583863, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000576066.5", "url": "https://www.ensembl.org/id/ENST00000576066.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000461183.1", "url": "https://www.ensembl.org/id/ENSP00000461183.1" } ] } }, { "isoform_ac": "I3L4T1-1", "url": "", "sequence": { "sequence": "XLLVPILLPEKCYDQLFVQWDLLHALGVKPYS", "length": 32, "header": "tr|I3L4T1-1|MPU1_HUMAN Computationally mapped isoform of Mannose-P-dolichol utilization defect 1 protein OS=Homo sapiens OX=9606 GN=MPDU1 PE=1 SV=2 CANONICAL=O75352-1" }, "locus": { "chromosome": "17", "start_pos": 7586716, "end_pos": 7583895, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000574558.1", "url": "https://www.ensembl.org/id/ENST00000574558.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000461499.1", "url": "https://www.ensembl.org/id/ENSP00000461499.1" } ] } }, { "isoform_ac": "J3KSI4-1", "url": "", "sequence": { "sequence": "MAAEADGPLKRLLVPILLPEKCYDQLFVQWDLLHGEFYSASDPSPTRVTVGP", "length": 52, "header": "tr|J3KSI4-1|MPU1_HUMAN Computationally mapped isoform of Mannose-P-dolichol utilization defect 1 protein OS=Homo sapiens OX=9606 GN=MPDU1 PE=1 SV=1 CANONICAL=O75352-1" }, "locus": { "chromosome": "17", "start_pos": 7584018, "end_pos": 7583863, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000582151.1", "url": "https://www.ensembl.org/id/ENST00000582151.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000462500.1", "url": "https://www.ensembl.org/id/ENSP00000462500.1" } ] } }, { "isoform_ac": "J3KT75-1", "url": "", "sequence": { "sequence": "MAAEADGPLKRLLVPILLPEKCYDQLFVQWDLLHVPCLKILLSKGLGLGIVAGSLLVKLPQVFKILGAKSAEGLSLQSVMLELVALTGTMVYSITNNFPFSFSRQPPTTTTGTQASSQPSQSSCCLGAPWPESSLPFRGEHPILSALRKDSGVQ", "length": 154, "header": "tr|J3KT75-1|MPU1_HUMAN Computationally mapped isoform of Mannose-P-dolichol utilization defect 1 protein OS=Homo sapiens OX=9606 GN=MPDU1 PE=1 SV=1 CANONICAL=O75352-1" }, "locus": { "chromosome": "17", "start_pos": 7592492, "end_pos": 7583863, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000584378.5", "url": "https://www.ensembl.org/id/ENST00000584378.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000462839.1", "url": "https://www.ensembl.org/id/ENSP00000462839.1" } ] } }, { "isoform_ac": "J3KTK8-1", "url": "", "sequence": { "sequence": "ADGPLKRLLVPILLPEKCYDQLFVQWDLLHVPCLKILLSKGLGLGIVAGSLLVKLPQVFKILGAKSAEGLSLQSVMLELVALTGTMVYSITNNFPFSSWGEALFLMLQTITICFLV", "length": 116, "header": "tr|J3KTK8-1|MPU1_HUMAN Computationally mapped isoform of Mannose-P-dolichol utilization defect 1 protein OS=Homo sapiens OX=9606 GN=MPDU1 PE=1 SV=1 CANONICAL=O75352-1" }, "locus": { "chromosome": "17", "start_pos": 7588097, "end_pos": 7583875, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000585217.5", "url": "https://www.ensembl.org/id/ENST00000585217.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000463037.1", "url": "https://www.ensembl.org/id/ENSP00000463037.1" } ] } }, { "isoform_ac": "J3QQZ4-1", "url": "", "sequence": { "sequence": "RLLVPILLPEKCYDQLFVQWDLLHVPCLKILLSKGLGLGIVAGSLLVKLPQVFKILGAKSAEGLSLQSVMLELVALTGTMVYSITNNFPFSSWGEALFLMLQTITICFLVMHYRGQTVKASPGSHQLPQRAHRPALSHHSLPAVWGLPGPNL", "length": 152, "header": "tr|J3QQZ4-1|J3QQZ4_HUMAN Computationally mapped isoform of Mannose-P-dolichol utilization defect 1 OS=Homo sapiens OX=9606 GN=MPDU1 PE=1 SV=1 CANONICAL=O75352-1" }, "locus": { "chromosome": "17", "start_pos": 7587258, "end_pos": 7583893, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000581380.1", "url": "https://www.ensembl.org/id/ENST00000581380.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000463966.1", "url": "https://www.ensembl.org/id/ENSP00000463966.1" } ] } }, { "isoform_ac": "J3QRD5-1", "url": "", "sequence": { "sequence": "MAAEADGPLKRLLVPILLPEKCYDQLFVQWDLLHVPCLKILLSKGLGLGIVAGSLLVKLPQVFKILGAKSAEGLSLQSVMLELVALTGTMVYSITNNFPFSSWGEALFLMLQTITICFLVMHYRGQTVKGVAFLACYGLVLLVLLSPLTPLTVVTLLQASNVPAVVVGRAATNYHNGHTGQLSAITVFLLFGG", "length": 193, "header": "tr|J3QRD5-1|J3QRD5_HUMAN Computationally mapped isoform of Mannose-P-dolichol utilization defect 1 OS=Homo sapiens OX=9606 GN=MPDU1 PE=1 SV=8 CANONICAL=O75352-1" }, "locus": { "chromosome": "17", "start_pos": 7587241, "end_pos": 7583863, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000579445.5", "url": "https://www.ensembl.org/id/ENST00000579445.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000464158.1", "url": "https://www.ensembl.org/id/ENSP00000464158.1" } ] } }, { "isoform_ac": "J3QS48-1", "url": "", "sequence": { "sequence": "MAAEADGPLKRLLVPILLPEKCYDQLFVQWDLLHVPCLKILLSKGLGLGIVAGSLLVKLPQVFKILGAKSAEGLSLQSVMLELVALTGTMVYSITNNFPFR", "length": 101, "header": "tr|J3QS48-1|MPU1_HUMAN Computationally mapped isoform of Mannose-P-dolichol utilization defect 1 protein OS=Homo sapiens OX=9606 GN=MPDU1 PE=1 SV=1 CANONICAL=O75352-1" }, "locus": { "chromosome": "17", "start_pos": 7586079, "end_pos": 7583863, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000580708.5", "url": "https://www.ensembl.org/id/ENST00000580708.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000464524.1", "url": "https://www.ensembl.org/id/ENSP00000464524.1" } ] } }, { "isoform_ac": "J3QW43-1", "url": "", "sequence": { "sequence": "MAAEADGPLKRLLVPILLPEKCYDQLFVQWDLLHVPCLKILLSKGLGLGIVAGSLLVKLPQVFKILGAKSAEGLSLQSVMLELVALTGTMVYSITNNFPFSSWGEALFLMLQTITICFLVMHYRGQTVKGAGDLPKSRLCGSWEPCWELSFSRQPPTTTTGTQASSQPSQSSCCLGAPWPESSLPFRKPEIP", "length": 192, "header": "tr|J3QW43-1|MPU1_HUMAN Computationally mapped isoform of Mannose-P-dolichol utilization defect 1 protein OS=Homo sapiens OX=9606 GN=MPDU1 PE=1 SV=1 CANONICAL=O75352-1" }, "locus": { "chromosome": "17", "start_pos": 7587441, "end_pos": 7583863, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000396501.8", "url": "https://www.ensembl.org/id/ENST00000396501.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000379758.4", "url": "https://www.ensembl.org/id/ENSP00000379758.4" } ] } }, { "isoform_ac": "O75352-1", "url": "", "sequence": { "sequence": "MAAEADGPLKRLLVPILLPEKCYDQLFVQWDLLHVPCLKILLSKGLGLGIVAGSLLVKLPQVFKILGAKSAEGLSLQSVMLELVALTGTMVYSITNNFPFSSWGEALFLMLQTITICFLVMHYRGQTVKGVAFLACYGLVLLVLLSPLTPLTVVTLLQASNVPAVVVGRLLQAATNYHNGHTGQLSAITVFLLFGGSLARIFTSIQETGDPLMAGTFVVSSLCNGLIAAQLLFYWNAKPPHKQKKAQ", "length": 247, "header": "sp|O75352-1|MPU1_HUMAN Isoform 1 of Mannose-P-dolichol utilization defect 1 protein OS=Homo sapiens OX=9606 GN=MPDU1 PE=1 SV=2 CANONICAL=O75352-1" }, "locus": { "chromosome": "17", "start_pos": 7587548, "end_pos": 7583863, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000250124.11", "url": "https://www.ensembl.org/id/ENST00000250124.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000250124.6", "url": "https://www.ensembl.org/id/ENSP00000250124.6" } ] } }, { "isoform_ac": "O75352-2", "url": "", "sequence": { "sequence": "MAAEADGPLKRLLVPILLPEKCYDQLFVQWDLLHVPCLKILLSKGLGLGIVAGSLLVKLPQVFKILGAKSAEGLSLQSVMLELVALTGTMVYSITNNFPFRCRFPRLLRPGPAGASLTSDALDCSHPAPGLQCACCGGGEASPGSHQLPQRAHRPALSHHSLPAVWGLPGPNLHFHSGVSIPFSQL", "length": 186, "header": "sp|O75352-2|MPU1_HUMAN Isoform 2 of Mannose-P-dolichol utilization defect 1 protein OS=Homo sapiens OX=9606 GN=MPDU1 PE=1 SV=2 CANONICAL=O75352-1" }, "locus": { "chromosome": "17", "start_pos": 7592469, "end_pos": 7583863, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000423172.6", "url": "https://www.ensembl.org/id/ENST00000423172.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000414071.2", "url": "https://www.ensembl.org/id/ENSP00000414071.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O75352", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75352" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Imbach T, Burda P, Kuhnert P, Wevers RA, Aebi M, Berger EG, Hennet T", "evidence": [ { "database": "Reactome", "id": "R-HSA-446193", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446193" } ], "reference": [ { "type": "PubMed", "id": "10359825", "url": "https://glygen.org/publication/PubMed/10359825" } ] }, { "title": "Cloning of the human cDNA which can complement the defect of the yeast mannosyltransferase I-deficient mutant alg 1.", "journal": "Glycobiology", "date": "2000", "authors": "Takahashi T, Honda R, Nishikawa Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-446193", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446193" } ], "reference": [ { "type": "PubMed", "id": "10704531", "url": "https://glygen.org/publication/PubMed/10704531" } ] }, { "title": "Requirement of the Lec35 gene for all known classes of monosaccharide-P-dolichol-dependent glycosyltransferase reactions in mammals.", "journal": "Molecular biology of the cell", "date": "2001", "authors": "Anand M, Rush JS, Ray S, Doucey MA, Weik J, Ware FE, Hofsteenge J, Waechter CJ, Lehrman MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-4687000", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4687000" } ], "reference": [ { "type": "PubMed", "id": "11179430", "url": "https://glygen.org/publication/PubMed/11179430" } ] }, { "title": "The yeast ALG11 gene specifies addition of the terminal alpha 1,2-Man to the Man5GlcNAc2-PP-dolichol N-glycosylation intermediate formed on the cytosolic side of the endoplasmic reticulum.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Cipollo JF, Trimble RB, Chi JH, Yan Q, Dean N", "evidence": [ { "database": "Reactome", "id": "R-HSA-446193", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446193" } ], "reference": [ { "type": "PubMed", "id": "11278778", "url": "https://glygen.org/publication/PubMed/11278778" } ] }, { "title": "A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If).", "journal": "The Journal of clinical investigation", "date": "2001", "authors": "Kranz C, Denecke J, Lehrman MA, Ray S, Kienz P, Kreissel G, Sagi D, Peter-Katalinic J, Freeze HH, Schmid T, Jackowski-Dohrmann S, Harms E, Marquardt T", "evidence": [ { "database": "UniProtKB", "id": "O75352", "url": "https://www.uniprot.org/uniprot/O75352" }, { "database": "Reactome", "id": "R-HSA-4687000", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4687000" } ], "reference": [ { "type": "PubMed", "id": "11733556", "url": "https://glygen.org/publication/PubMed/11733556" } ] }, { "title": "MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If.", "journal": "The Journal of clinical investigation", "date": "2001", "authors": "Schenk B, Imbach T, Frank CG, Grubenmann CE, Raymond GV, Hurvitz H, Korn-Lubetzki I, Revel-Vik S, Raas-Rotschild A, Luder AS, Jaeken J, Berger EG, Matthijs G, Hennet T, Aebi M", "evidence": [ { "database": "UniProtKB", "id": "O75352", "url": "https://www.uniprot.org/uniprot/O75352" }, { "database": "Reactome", "id": "R-HSA-4687000", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4687000" } ], "reference": [ { "type": "PubMed", "id": "11733564", "url": "https://glygen.org/publication/PubMed/11733564" } ] }, { "title": "Translocation of lipid-linked oligosaccharides across the ER membrane requires Rft1 protein.", "journal": "Nature", "date": "2002", "authors": "Helenius J, Ng DT, Marolda CL, Walter P, Valvano MA, Aebi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-446193", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446193" } ], "reference": [ { "type": "PubMed", "id": "11807558", "url": "https://glygen.org/publication/PubMed/11807558" } ] }, { "title": "Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Chantret I, Dupre T, Delenda C, Bucher S, Dancourt J, Barnier A, Charollais A, Heron D, Bader-Meunier B, Danos O, Seta N, Durand G, Oriol R, Codogno P, Moore SE", "evidence": [ { "database": "Reactome", "id": "R-HSA-446193", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446193" } ], "reference": [ { "type": "PubMed", "id": "11983712", "url": "https://glygen.org/publication/PubMed/11983712" } ] }, { "title": "A mannosyltransferase gene at 11q23 is disrupted by a translocation breakpoint that co-segregates with bipolar affective disorder in a small family.", "journal": "Neurogenetics", "date": "2002", "authors": "Baysal BE, Willett-Brozick JE, Badner JA, Corona W, Ferrell RE, Nimgaonkar VL, Detera-Wadleigh SD", "evidence": [ { "database": "Reactome", "id": "R-HSA-446193", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446193" } ], "reference": [ { "type": "PubMed", "id": "12030331", "url": "https://glygen.org/publication/PubMed/12030331" } ] }, { "title": "Common origin and evolution of glycosyltransferases using Dol-P-monosaccharides as donor substrate.", "journal": "Molecular biology and evolution", "date": "2002", "authors": "Oriol R, Martinez-Duncker I, Chantret I, Mollicone R, Codogno P", "evidence": [ { "database": "Reactome", "id": "R-HSA-446193", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446193" } ], "reference": [ { "type": "PubMed", "id": "12200473", "url": "https://glygen.org/publication/PubMed/12200473" } ] }, { "title": "A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Thiel C, Schwarz M, Peng J, Grzmil M, Hasilik M, Braulke T, Kohlschutter A, von Figura K, Lehle L, Korner C", "evidence": [ { "database": "Reactome", "id": "R-HSA-446193", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446193" } ], "reference": [ { "type": "PubMed", "id": "12684507", "url": "https://glygen.org/publication/PubMed/12684507" } ] }, { "title": "Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij.", "journal": "Human mutation", "date": "2003", "authors": "Wu X, Rush JS, Karaoglu D, Krasnewich D, Lubinsky MS, Waechter CJ, Gilmore R, Freeze HH", "evidence": [ { "database": "Reactome", "id": "R-HSA-446193", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446193" } ], "reference": [ { "type": "PubMed", "id": "12872255", "url": "https://glygen.org/publication/PubMed/12872255" } ] }, { "title": "Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik.", "journal": "Human molecular genetics", "date": "2004", "authors": "Grubenmann CE, Frank CG, Hulsmeier AJ, Schollen E, Matthijs G, Mayatepek E, Berger EG, Aebi M, Hennet T", "evidence": [ { "database": "Reactome", "id": "R-HSA-446193", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446193" } ], "reference": [ { "type": "PubMed", "id": "14709599", "url": "https://glygen.org/publication/PubMed/14709599" } ] }, { "title": "Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik.", "journal": "American journal of human genetics", "date": "2004", "authors": "Schwarz M, Thiel C, Lubbehusen J, Dorland B, de Koning T, von Figura K, Lehle L, Korner C", "evidence": [ { "database": "Reactome", "id": "R-HSA-446193", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446193" } ], "reference": [ { "type": "PubMed", "id": "14973778", "url": "https://glygen.org/publication/PubMed/14973778" } ] }, { "title": "Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I.", "journal": "American journal of human genetics", "date": "2004", "authors": "Kranz C, Denecke J, Lehle L, Sohlbach K, Jeske S, Meinhardt F, Rossi R, Gudowius S, Marquardt T", "evidence": [ { "database": "Reactome", "id": "R-HSA-446193", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446193" } ], "reference": [ { "type": "PubMed", "id": "14973782", "url": "https://glygen.org/publication/PubMed/14973782" } ] }, { "title": "Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL.", "journal": "American journal of human genetics", "date": "2004", "authors": "Frank CG, Grubenmann CE, Eyaid W, Berger EG, Aebi M, Hennet T", "evidence": [ { "database": "Reactome", "id": "R-HSA-446193", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446193" } ], "reference": [ { "type": "PubMed", "id": "15148656", "url": "https://glygen.org/publication/PubMed/15148656" } ] }, { "title": "Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency).", "journal": "Journal of medical genetics", "date": "2004", "authors": "Schollen E, Frank CG, Keldermans L, Reyntjens R, Grubenmann CE, Clayton PT, Winchester BG, Smeitink J, Wevers RA, Aebi M, Hennet T, Matthijs G", "evidence": [ { "database": "Reactome", "id": "R-HSA-446193", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446193" } ], "reference": [ { "type": "PubMed", "id": "15235028", "url": "https://glygen.org/publication/PubMed/15235028" } ] }, { "title": "Complex genomic rearrangements lead to novel primate gene function.", "journal": "Genome research", "date": "2005", "authors": "Ciccarelli FD, von Mering C, Suyama M, Harrington ED, Izaurralde E, Bork P", "evidence": [ { "database": "Reactome", "id": "R-HSA-446193", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446193" } ], "reference": [ { "type": "PubMed", "id": "15710750", "url": "https://glygen.org/publication/PubMed/15710750" } ] }, { "title": "Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2005", "authors": "Sun L, Eklund EA, Chung WK, Wang C, Cohen J, Freeze HH", "evidence": [ { "database": "Reactome", "id": "R-HSA-446193", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446193" } ], "reference": [ { "type": "PubMed", "id": "15840742", "url": "https://glygen.org/publication/PubMed/15840742" } ] }, { "title": "CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.", "journal": "American journal of medical genetics. Part A", "date": "2005", "authors": "Weinstein M, Schollen E, Matthijs G, Neupert C, Hennet T, Grubenmann CE, Frank CG, Aebi M, Clarke JT, Griffiths A, Seargeant L, Poplawski N", "evidence": [ { "database": "Reactome", "id": "R-HSA-446193", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446193" } ], "reference": [ { "type": "PubMed", "id": "15945070", "url": "https://glygen.org/publication/PubMed/15945070" } ] }, { "title": "Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient.", "journal": "American journal of medical genetics. Part A", "date": "2005", "authors": "Sun L, Eklund EA, Van Hove JL, Freeze HH, Thomas JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-446193", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446193" } ], "reference": [ { "type": "PubMed", "id": "16007612", "url": "https://glygen.org/publication/PubMed/16007612" } ] }, { "title": "Alg14 recruits Alg13 to the cytoplasmic face of the endoplasmic reticulum to form a novel bipartite UDP-N-acetylglucosamine transferase required for the second step of N-linked glycosylation.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Gao XD, Tachikawa H, Sato T, Jigami Y, Dean N", "evidence": [ { "database": "Reactome", "id": "R-HSA-446193", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446193" } ], "reference": [ { "type": "PubMed", "id": "16100110", "url": "https://glygen.org/publication/PubMed/16100110" } ] }, { "title": "Common variations in ALG9 are not associated with bipolar I disorder: a family-based study.", "journal": "Behavioral and brain functions : BBF", "date": "2006", "authors": "Baysal BE, Willett-Brozick JE, Bacanu SA, Detera-Wadleigh S, Nimgaonkar VL", "evidence": [ { "database": "Reactome", "id": "R-HSA-446193", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446193" } ], "reference": [ { "type": "PubMed", "id": "16859551", "url": "https://glygen.org/publication/PubMed/16859551" } ] }, { "title": "In vitro evidence for the dual function of Alg2 and Alg11: essential mannosyltransferases in N-linked glycoprotein biosynthesis.", "journal": "Biochemistry", "date": "2006", "authors": "O'Reilly MK, Zhang G, Imperiali B", "evidence": [ { "database": "Reactome", "id": "R-HSA-446193", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446193" } ], "reference": [ { "type": "PubMed", "id": "16878994", "url": "https://glygen.org/publication/PubMed/16878994" } ] }, { "title": "Human RFT1 deficiency leads to a disorder of N-linked glycosylation.", "journal": "American journal of human genetics", "date": "2008", "authors": "Haeuptle MA, Pujol FM, Neupert C, Winchester B, Kastaniotis AJ, Aebi M, Hennet T", "evidence": [ { "database": "Reactome", "id": "R-HSA-446193", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446193" } ], "reference": [ { "type": "PubMed", "id": "18313027", "url": "https://glygen.org/publication/PubMed/18313027" } ] }, { "title": "Distinct flippases translocate glycerophospholipids and oligosaccharide diphosphate dolichols across the endoplasmic reticulum.", "journal": "Biochemistry", "date": "2008", "authors": "Sanyal S, Frank CG, Menon AK", "evidence": [ { "database": "Reactome", "id": "R-HSA-446193", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446193" } ], "reference": [ { "type": "PubMed", "id": "18597486", "url": "https://glygen.org/publication/PubMed/18597486" } ] }, { "title": "Biochemical characterization and membrane topology of Alg2 from Saccharomyces cerevisiae as a bifunctional alpha1,3- and 1,6-mannosyltransferase involved in lipid-linked oligosaccharide biosynthesis.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Kampf M, Absmanner B, Schwarz M, Lehle L", "evidence": [ { "database": "Reactome", "id": "R-HSA-446193", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446193" } ], "reference": [ { "type": "PubMed", "id": "19282279", "url": "https://glygen.org/publication/PubMed/19282279" } ] }, { "title": "Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.", "journal": "American journal of human genetics", "date": "2012", "authors": "Belaya K, Finlayson S, Slater CR, Cossins J, Liu WW, Maxwell S, McGowan SJ, Maslau S, Twigg SR, Walls TJ, Pascual Pascual SI, Palace J, Beeson D", "evidence": [ { "database": "Reactome", "id": "R-HSA-446193", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446193" } ], "reference": [ { "type": "PubMed", "id": "22742743", "url": "https://glygen.org/publication/PubMed/22742743" } ] }, { "title": "Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.", "journal": "Cell", "date": "2016", "authors": "Yang Xinping, Coulombe-Huntington Jasmin, Kang Shuli, Sheynkman Gloria M, Hao Tong, Richardson Aaron, Sun Song, Yang Fan, Shen Yun A, Murray Ryan R, Spirohn Kerstin, Begg Bridget E, Duran-Frigola Miquel, MacWilliams Andrew, Pevzner Samuel J, Zhong Quan, Trigg Shelly A, Tam Stanley, Ghamsari Lila, Sahni Nidhi, Yi Song, Rodriguez Maria D, Balcha Dawit, Tan Guihong, Costanzo Michael, Andrews Brenda, Boone Charles, Zhou Xianghong J, Salehi-Ashtiani Kourosh, Charloteaux Benoit, Chen Alyce A, Calderwood Michael A, Aloy Patrick, Roth Frederick P, Hill David E, Iakoucheva Lilia M, Xia Yu, Vidal Marc", "evidence": [ { "database": "UniProtKB", "id": "I3L295", "url": "https://www.uniprot.org/uniprot/I3L295" } ], "reference": [ { "type": "PubMed", "id": "26871637", "url": "https://glygen.org/publication/PubMed/26871637" } ] }, { "title": "MPDU1 regulates CEACAM1 and cell adhesion in vitro and in vivo.", "journal": "Glycoconjugate journal", "date": "2018", "authors": "Bennett DC, Cazet A, Charest J, Contessa JN", "evidence": [ { "database": "RefSeq", "id": "NP_001317002", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317002" } ], "reference": [ { "type": "PubMed", "id": "29671116", "url": "https://glygen.org/publication/PubMed/29671116" } ] }, { "title": "O-GlcNAcylation promotes fatty acid synthase activity under nutritional stress as a pro-survival mechanism in cancer cells.", "journal": "Proteomics", "date": "2022", "authors": "Wong YK, Wang J, Lim TK, Lin Q, Yap CT, Shen HM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75352", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75352" } ], "reference": [ { "type": "PubMed", "id": "35083852", "url": "https://glygen.org/publication/PubMed/35083852" } ] }, { "title": "Cloning and functional expression of the human GlcNAc-1-P transferase, the enzyme for the committed step of the dolichol cycle, by heterologous complementation in Saccharomyces cerevisiae.", "journal": "Glycobiology", "date": "1998", "authors": "Eckert V, Blank M, Mazhari-Tabrizi R, Mumberg D, Funk M, Schwarz RT", "evidence": [ { "database": "Reactome", "id": "R-HSA-446193", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446193" } ], "reference": [ { "type": "PubMed", "id": "9451016", "url": "https://glygen.org/publication/PubMed/9451016" } ] }, { "title": "The ALG10 locus of Saccharomyces cerevisiae encodes the alpha-1,2 glucosyltransferase of the endoplasmic reticulum: the terminal glucose of the lipid-linked oligosaccharide is required for efficient N-linked glycosylation.", "journal": "Glycobiology", "date": "1998", "authors": "Burda P, Aebi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-446193", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446193" } ], "reference": [ { "type": "PubMed", "id": "9597543", "url": "https://glygen.org/publication/PubMed/9597543" } ] }, { "title": "Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1998", "authors": "Mao M, Fu G, Wu J S, Zhang Q H, Zhou J, Kan L X, Huang Q H, He K L, Gu B W, Han Z G, Shen Y, Gu J, Yu Y P, Xu S H, Wang Y X, Chen S J, Chen Z", "evidence": [ { "database": "UniProtKB", "id": "O75352", "url": "https://www.uniprot.org/uniprot/O75352" } ], "reference": [ { "type": "PubMed", "id": "9653160", "url": "https://glygen.org/publication/PubMed/9653160" } ] } ], "pathway": [ { "id": "hsa:9526", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9526", "resource": "KEGG Pathway" }, { "id": "R-HSA-446193", "name": "Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446193", "resource": "Reactome", "description": "Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein" }, { "id": "R-HSA-4687000", "name": "Defective MPDU1 causes CDG-1f", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4687000", "resource": "Reactome", "description": "Defective MPDU1 causes CDG-1f" } ], "orthologs": [ { "uniprot_canonical_ac": "Q9R0Q9-1", "protein_name": "Mannose-P-dolichol utilization defect 1 protein", "gene_name": "Mpdu1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAGEADGRFKGLLVPILLPEKCYDQLFVQWDLLHVPCLKILLSKGLGLGIVAGSLLVKLPQVFKLLGAKSAEGLSLQSVMLELVALTGTVVYSITNNFPFSSWGEALFLTLQTVAICFLVMHYRGETVKGVAFLACYAMVLLALLSPLTPLAVVTLLQASNVPAVVVGKLLQAATNYRNGHTGQLSAITVFMLFGGSLARIFTSVQETGDPLMAGVFVVSSLCNGLIAAQVLFYWNAKAPHKQKKEQ", "length": 247 }, "evidence": [ { "id": "45925273", "url": "http://www.informatics.jax.org/homology/45925273", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9VMW8-1", "protein_name": "Mannose-P-dolichol utilization defect 1 protein homolog", "gene_name": "", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MTDLIRQGALFLMSEKCYDNYFLYHNFLDVPCFKALLSKGLGLAIIAGSVLVKVPQVLKILNSKSGEGINIVGVVLDLLAISFHLSYNFMHGYPFSAWGDSTFLAIQTVTIAVLVLFFNGRKAQSGLFLVGYVVLMYVLNSGLTPMSVLFTIQSCNIPILLVGKLSQAYTNYQAGSTGQLSAATVIMMFAGSVARIFTSIQETGDFMIILTFIASTFANSVILGQLIYYWNKPAGVKVKDSKAKKPKTKKDD", "length": 252 }, "evidence": [ { "id": "O75352", "url": "https://omabrowser.org/oma/group/O75352/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O75352", "url": "https://www.uniprot.org/uniprot/O75352" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "O75352", "url": "https://www.uniprot.org/uniprot/O75352" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "dolichol-linked oligosaccharide biosynthetic process", "id": "GO:0006488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006488", "evidence": [ { "database": "UniProtKB", "id": "O75352", "url": "https://www.uniprot.org/uniprot/O75352" } ], "pmid": "" }, { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "O75352", "url": "https://www.uniprot.org/uniprot/O75352" } ], "pmid": "" }, { "name": "oligosaccharide biosynthetic process", "id": "GO:0009312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009312", "evidence": [ { "database": "UniProtKB", "id": "O75352", "url": "https://www.uniprot.org/uniprot/O75352" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "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": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 34 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }