{ "uniprot_canonical_ac": "O75487-1", "uniprot_ac": "O75487", "uniprot_id": "GPC4_HUMAN", "mass": { "chemical_mass": 62412.0, "monoisotopic_mass": 62412.0 }, "refseq": { "ac": "NP_001439", "name": "glypican-4 precursor", "summary": "Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. The GPC4 gene is adjacent to the 3' end of GPC3 and may also play a role in Simpson-Golabi-Behmel syndrome. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001439" }, "gene_names": [ { "name": "GPC4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75487", "id": "O75487" }, { "name": "GPC4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001439", "id": "NP_001439" }, { "name": "K-glypican; KPTS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001439", "id": "NP_001439" }, { "name": "PRO937", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75487", "id": "O75487" } ], "protein_names": [ { "name": "Glypican-4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75487" }, { "name": "K-glypican", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75487" }, { "name": "glypican proteoglycan 4; dJ900E8.1 (glypican 4)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001439", "id": "NP_001439" }, { "name": "glypican-4 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001439", "id": "NP_001439" } ], "function": [ { "annotation": "Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. The GPC4 gene is adjacent to the 3' end of GPC3 and may also play a role in Simpson-Golabi-Behmel syndrome. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001439" } ] }, { "annotation": "Cell surface proteoglycan that bears heparan sulfate. May be involved in the development of kidney tubules and of the central nervous system (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O75487", "url": "https://www.uniprot.org/uniprot/O75487#function" } ] }, { "annotation": "Circulating glypican-4 is a new predictor of all-cause mortality in patients with heart failure.", "evidence": [ { "database": "RefSeq", "id": "NP_001439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001439" }, { "database": "PubMed", "id": "37844682", "url": "https://glygen.org/publication/PubMed/37844682" } ] }, { "annotation": "Serum glypican-4 is a marker of future vascular risk and mortality in coronary angiography patients.", "evidence": [ { "database": "RefSeq", "id": "NP_001439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001439" }, { "database": "PubMed", "id": "35202959", "url": "https://glygen.org/publication/PubMed/35202959" } ] }, { "annotation": "Serum glypican-4 is associated with the 10-year clinical outcome of patients with peripheral artery disease.", "evidence": [ { "database": "RefSeq", "id": "NP_001439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001439" }, { "database": "PubMed", "id": "35944770", "url": "https://glygen.org/publication/PubMed/35944770" } ] }, { "annotation": "The Shear Stress-Regulated Expression of Glypican-4 in Endothelial Dysfunction In Vitro and Its Clinical Significance in Atherosclerosis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001439" }, { "database": "PubMed", "id": "37511353", "url": "https://glygen.org/publication/PubMed/37511353" } ] } ], "disease": [ { "disease_id": "DOID:0111842", "recommended_name": { "id": "DOID:0111842", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111842", "name": "Keipert syndrome", "description": "A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in the GPC4 gene on chromosome Xq26.2." }, "synonyms": [ { "id": "DOID:0111842", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111842", "name": "KPTS", "description": "" }, { "id": "DOID:0111842", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111842", "name": "nasodigitoacoustic syndrome", "description": "" }, { "id": "MONDO:0009720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009720", "name": "Keipert syndrome", "description": "A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis." }, { "id": "MONDO:0009720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009720", "name": "KPTS", "description": "" }, { "id": "MONDO:0009720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009720", "name": "Keipert syndrome", "description": "" }, { "id": "MONDO:0009720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009720", "name": "Keipert syndrome, X-linked recessive", "description": "" }, { "id": "MONDO:0009720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009720", "name": "nasodigitoacoustic syndrome", "description": "" }, { "id": "MONDO:0009720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009720", "name": "nasodigitoacoustic syndrome, formerly", "description": "" }, { "id": "MONDO:0009720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009720", "name": "Keipert syndrome", "description": "A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis." }, { "id": "MONDO:0009720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009720", "name": "KPTS", "description": "" }, { "id": "MONDO:0009720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009720", "name": "Keipert syndrome", "description": "" }, { "id": "MONDO:0009720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009720", "name": "Keipert syndrome, X-linked recessive", "description": "" }, { "id": "MONDO:0009720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009720", "name": "nasodigitoacoustic syndrome", "description": "" }, { "id": "MONDO:0009720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009720", "name": "nasodigitoacoustic syndrome, formerly", "description": "" }, { "id": "MIM:301026", "resource": "MIM", "url": "https://www.omim.org/entry/301026", "name": "Keipert syndrome", "description": "Keipert syndrome" } ], "evidence": [ { "id": "301026", "database": "MIM", "url": "https://www.omim.org/entry/301026" } ] } ], "snv": [ { "evidence": [ { "id": "rs1297289741", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1297289741" }, { "id": "rs1297289741", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1297289741" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 181, "end_pos": 181, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HFT->NFT).", "chr_id": "X", "chr_pos": "133324315", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H181", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75487", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75487" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 234, "end_pos": 234, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KVS->NVS).", "chr_id": "X", "chr_pos": "133324154", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K234", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O75487", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75487" }, { "id": "rs1323856743", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1323856743" }, { "id": "rs1323856743", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1323856743" }, { "id": "rs1323856743", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1323856743" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 274, "end_pos": 274, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "M", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NIM->NIT).", "chr_id": "X", "chr_pos": "133311314", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "M274", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "O75487", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75487" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 375, "end_pos": 375, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (T->N).", "chr_id": "X", "chr_pos": "133305803", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T375", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs903876833", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs903876833" }, { "id": "rs903876833", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs903876833" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 376, "end_pos": 376, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "X", "chr_pos": "133305801", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T376", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75487", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75487" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 376, "end_pos": 376, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (T->I).", "chr_id": "X", "chr_pos": "133305800", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T376", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O75487", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75487" } ], "glycoeffect": [], "start_pos": 391, "end_pos": 391, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "X", "chr_pos": "133304844", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E391", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ] }, { "disease_id": "DOID: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" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1160335744", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1160335744" }, { "id": "rs1160335744", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1160335744#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 448, "end_pos": 448, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NNP->NNS).", "chr_id": "X", "chr_pos": "133303292", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P448", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750882215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750882215" }, { "id": "rs750882215", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs750882215" }, { "id": "rs750882215", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750882215" }, { "id": "rs750882215", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750882215#frequency_tab" }, { "id": "rs750882215", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750882215" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 453, "end_pos": 453, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DTS->NTS).", "chr_id": "X", "chr_pos": "133303277", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.00053", "site_lbl": "D453", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1289467957", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1289467957" }, { "id": "rs1289467957", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1289467957#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 47, "end_pos": 47, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDA->NDS).", "chr_id": "X", "chr_pos": "133414827", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A47", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75487", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75487" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 491, "end_pos": 491, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DES->NES).", "chr_id": "X", "chr_pos": "133303067", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D491", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix uteri cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1334526530", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1334526530" }, { "id": "rs1334526530", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1334526530#frequency_tab" }, { "id": "rs1334526530", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1334526530" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 494, "end_pos": 494, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->G).", "chr_id": "X", "chr_pos": "133303058", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S494", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs927768064", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs927768064" }, { "id": "rs927768064", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs927768064#frequency_tab" }, { "id": "rs927768064", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs927768064" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 514, "end_pos": 514, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->SAT).", "chr_id": "X", "chr_pos": "133302997", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N514", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "80.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000076716", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000076716" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "63.48", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000076716", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000076716" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "80.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000076716", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000076716" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000076716", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000076716" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "92.92", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000076716", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000076716" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "84.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000076716", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000076716" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "71.68", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000076716", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000076716" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "81.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000076716", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000076716" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "77.4", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000076716", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000076716" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "74.47", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000076716", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000076716" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "63.39", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000076716", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000076716" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "76.11", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000076716", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000076716" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "73.75", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000076716", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000076716" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75487", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75487" } ], "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": "O75487", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75487" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75487", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75487" } ], "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": "O75487", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75487" } ], "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": "O75487", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75487" } ], "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": "O75487", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75487" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75487", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75487" } ], "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": "O75487", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75487" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O75487", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75487" } ], "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": "O75487", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75487" } ], "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": "O75487", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75487" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O75487", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75487" } ], "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": "O75487", "url": "https://www.uniprot.org/uniprot/O75487" } ], "common_name": "Human" } ], "gene": [ { "name": "GPC4", "url": "https://www.uniprot.org/uniprot/O75487", "locus": { "chromosome": "X", "start_pos": 133300103, "end_pos": 133415489, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000076716", "url": "https://www.ensembl.org/id/ENSG00000076716" } ] } } ], "crossref": [ { "id": "ENSG00000076716", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000076716", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O75487", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75487", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "GPC4", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPC4", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "2239", "url": "https://www.ncbi.nlm.nih.gov/gene/2239", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "4452", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4452", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O75487", "url": "https://www.ebi.ac.uk/intact/interactors/id:O75487*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001863", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001863", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR019803", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019803", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:2239", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2239", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "300168", "url": "http://www.omim.org/entry/300168", "database": "MIM", "categories": [ "Other" ] }, { "id": "301026", "url": "http://www.omim.org/entry/301026", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75487", "url": "https://www.nextprot.org/entry/NX_O75487", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "LKNCNEV", "url": "https://omabrowser.org/oma/group/LKNCNEV/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2939408at2759", "url": "http://www.orthodb.org/?query=2939408at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10822", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10822", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10822:SF25", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10822:SF25", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF01153", "url": "http://pfam.xfam.org/family/PF01153", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75487", "url": "https://pharos.nih.gov/targets/O75487", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000050837", "url": "https://proconsortium.org/app/entry/PR:000050837", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000050838", "url": "https://proconsortium.org/app/entry/PR:000050838", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_O75487", "url": "http://purl.obolibrary.org/obo/PR_O75487", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-3560783", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3560783", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-3560801", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3560801", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-3656237", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3656237", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-3656253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3656253", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-4420332", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4420332", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9820960", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9820960", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9833110", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833110", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001439", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O75487", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "O75487", "url": "https://www.uniprot.org/uniprot/O75487", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75487-1", "url": "https://www.uniprot.org/uniprot/O75487-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75487-2", "url": "https://www.uniprot.org/uniprot/O75487-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MARFGLPALLCTLAVLSAALLAAELKSKSCSEVRRLYVSKGFNKNDAPLHEINGDHLKICPQGSTCCSQEMEEKYSLQSKDDFKSVVSEQCNHLQAVFASRYKKFDEFFKELLENAEKSLNDMFVKTYGHLYMQNSELFKDLFVELKRYYVVGNVNLEEMLNDFWARLLERMFRLVNSQYHFTDEYLECVSKYTEQLKPFGDVPRKLKLQVTRAFVAARTFAQGLAVAGDVVSKVSVVNPTAQCTHALLKMIYCSHCRGLVTVKPCYNYCSNIMRGCLANQGDLDFEWNNFIDAMLMVAERLEGPFNIESVMDPIDVKISDAIMNMQDNSVQVSQKVFQGCGPPKPLPAGRISRSISESAFSARFRPHHPEERPTTAAGTSLDRLVTDVKEKLKQAKKFWSSLPSNVCNDERMAAGNGNEDDCWNGKGKSRYLFAVTGNGLANQGNNPEVQVDTSKPDILILRQIMALRVMTSKMKNAYNGNDVDFFDISDESSGEGSGSGCEYQQCPSEFDYNATDHAGKSANEKADSAGVRPGAQAYLLTVFCILFLVMQREWR", "length": 556, "header": "sp|O75487-1|GPC4_HUMAN Isoform 1 of Glypican-4 OS=Homo sapiens OX=9606 GN=GPC4 PE=1 SV=4 CANONICAL=O75487-1" }, "isoforms": [ { "isoform_ac": "O75487-1", "url": "", "sequence": { "sequence": "MARFGLPALLCTLAVLSAALLAAELKSKSCSEVRRLYVSKGFNKNDAPLHEINGDHLKICPQGSTCCSQEMEEKYSLQSKDDFKSVVSEQCNHLQAVFASRYKKFDEFFKELLENAEKSLNDMFVKTYGHLYMQNSELFKDLFVELKRYYVVGNVNLEEMLNDFWARLLERMFRLVNSQYHFTDEYLECVSKYTEQLKPFGDVPRKLKLQVTRAFVAARTFAQGLAVAGDVVSKVSVVNPTAQCTHALLKMIYCSHCRGLVTVKPCYNYCSNIMRGCLANQGDLDFEWNNFIDAMLMVAERLEGPFNIESVMDPIDVKISDAIMNMQDNSVQVSQKVFQGCGPPKPLPAGRISRSISESAFSARFRPHHPEERPTTAAGTSLDRLVTDVKEKLKQAKKFWSSLPSNVCNDERMAAGNGNEDDCWNGKGKSRYLFAVTGNGLANQGNNPEVQVDTSKPDILILRQIMALRVMTSKMKNAYNGNDVDFFDISDESSGEGSGSGCEYQQCPSEFDYNATDHAGKSANEKADSAGVRPGAQAYLLTVFCILFLVMQREWR", "length": 556, "header": "sp|O75487-1|GPC4_HUMAN Isoform 1 of Glypican-4 OS=Homo sapiens OX=9606 GN=GPC4 PE=1 SV=4 CANONICAL=O75487-1" }, "locus": { "chromosome": "X", "start_pos": 133414965, "end_pos": 133302870, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000370828.4", "url": "https://www.ensembl.org/id/ENST00000370828.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000359864.3", "url": "https://www.ensembl.org/id/ENSP00000359864.3" } ] } }, { "isoform_ac": "O75487-2", "url": "", "sequence": { "sequence": "MEEKYSLQSKDDFKSVVSEQCNHLQAVFASRYKKFDEFFKELLENAEKSLNDMFVKTYGHLYMQNSELFKDLFVELKRYYVVGNVNLEEMLNDFWARLLERMFRLVNSQYHFTDEYLECVSKYTEQLKPFGDVPRKLKLQVTRAFVAARTFAQGLAVAGDVVSKVSVVNPTAQCTHALLKMIYCSHCRGLVTVKPCYNYCSNIMRGCLANQGDLDFEWNNFIDAMLMVAERLEGPFNIESVMDPIDVKISDAIMNMQDNSVQVSQKVFQGCGPPKPLPAGRISRSISESAFSARFRPHHPEERPTTAAGTSLDRLVTDVKEKLKQAKKFWSSLPSNVCNDERMAAGNGNEDDCWNGKGKSRYLFAVTGNGLANQGNNPEVQVDTSKPDILILRQIMALRVMTSKMKNAYNGNDVDFFDISDESSGEGSGSGCEYQQCPSEFDYNATDHAGKSANEKADSAGVRPGAQAYLLTVFCILFLVMQREWR", "length": 486, "header": "sp|O75487-2|GPC4_HUMAN Isoform 2 of Glypican-4 OS=Homo sapiens OX=9606 GN=GPC4 PE=1 SV=4 CANONICAL=O75487-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "FRPHHPEERPTTAAGTSLDR", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 365, "start_aa": "Phe", "end_pos": 384, "end_aa": "Arg", "evidence": [ { "id": "O75487", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "RPHHPEERPTTAAGTSL", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 366, "start_aa": "Arg", "end_pos": 382, "end_aa": "Leu", "evidence": [ { "id": "O75487", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "RPHHPEERPTTAAGTSLDRL", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 366, "start_aa": "Arg", "end_pos": 385, "end_aa": "Leu", "evidence": [ { "id": "O75487", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G29068FM", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 375, "start_aa": "Thr", "end_pos": 375, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr375", "evidence": [ { "id": "O75487", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 375, "start_aa": "Thr", "end_pos": 375, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr375", "evidence": [ { "id": "O75487", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 375, "start_aa": "Thr", "end_pos": 375, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr375", "evidence": [ { "id": "O75487", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "TT", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 375, "start_aa": "Thr", "end_pos": 376, "end_aa": "Thr", "evidence": [ { "id": "O75487", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 376, "start_aa": "Thr", "end_pos": 376, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr376", "evidence": [ { "id": "O75487", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 380, "start_aa": "Thr", "end_pos": 380, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr380", "evidence": [ { "id": "O75487", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 381, "start_aa": "Ser", "end_pos": 381, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser381", "evidence": [ { "id": "O75487", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "site_category": "predicted", "site_seq": "S", "relation": "attached", "comment": "O-linked (Xyl...) (glycosaminoglycan) serine", "start_pos": 494, "start_aa": "Ser", "end_pos": 494, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser494", "evidence": [ { "id": "O75487", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75487#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "site_category": "predicted", "site_seq": "S", "relation": "attached", "comment": "O-linked (Xyl...) (glycosaminoglycan) serine", "start_pos": 498, "start_aa": "Ser", "end_pos": 498, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser498", "evidence": [ { "id": "O75487", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75487#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "site_category": "predicted", "site_seq": "S", "relation": "attached", "comment": "O-linked (Xyl...) (glycosaminoglycan) serine", "start_pos": 500, "start_aa": "Ser", "end_pos": 500, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser500", "evidence": [ { "id": "O75487", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75487#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 514, "start_aa": "Asn", "end_pos": 514, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn514", "evidence": [ { "id": "O75487", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75487#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 357, "end_pos": 357, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75487", "url": "https://www.uniprot.org/uniprot/O75487" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "O75487", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75487" } ], "site_lbl": "Ser357" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_predicted" ], "publication": [ { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology", "journal": "EMBO J", "date": "2013", "authors": "Steentoft C., Vakhrushev S.Y., Joshi H.J., Kong Y., Vester-Christensen M.B., Schjoldager K.T., Lavrsen K., Dabelsteen S., Pedersen N.B., Marcos-Silva L., Gupta R., Bennett E.P., Mandel U., Brunak S., Wandall H.H., Levery S.B., Clausen H.", "evidence": [ { "database": "UniCarbKB", "id": "O75487", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "title": "Probing the O-Glycoproteome of Gastric Cancer Cell Lines for Biomarker Discovery", "journal": "Molecular & Cellular Proteomics", "date": "2015", "authors": "Campos D., Freitas D., Gomes J., Magalh\u00e3es A., Steentoft C., Gomes C., Vester-Christensen M. B., Ferreira J. A., Afonso L. P., Santos L. L., Pinto de Sousa J., Mandel U., Clausen H., Vakhrushev S. Y., Reis C. A.", "evidence": [ { "database": "UniCarbKB", "id": "O75487", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1074/mcp.M114.046862", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "title": "The structure of human retinol-binding protein (RBP) with its carrier protein transthyretin reveals an interaction with the carboxy terminus of RBP.", "journal": "Biochemistry", "date": "1999", "authors": "Naylor HM, Newcomer ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "10052934", "url": "https://glygen.org/publication/PubMed/10052934" } ] }, { "title": "Human heparanase. Purification, characterization, cloning, and expression.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Toyoshima M, Nakajima M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "10446189", "url": "https://glygen.org/publication/PubMed/10446189" } ] }, { "title": "Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity.", "journal": "Clinical genetics", "date": "1999", "authors": "Lee-Chen GJ, Lin SP, Tang YF, Chin YW", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "10466419", "url": "https://glygen.org/publication/PubMed/10466419" } ] }, { "title": "Cloning and expression of a proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I. A seventh member of the human beta4-galactosyltransferase gene family.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Almeida R, Levery SB, Mandel U, Kresse H, Schwientek T, Bennett EP, Clausen H", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "10473568", "url": "https://glygen.org/publication/PubMed/10473568" } ] }, { "title": "Mutation analysis of hereditary multiple exostoses in the Chinese.", "journal": "Human genetics", "date": "1999", "authors": "Xu L, Xia J, Jiang H, Zhou J, Li H, Wang D, Pan Q, Long Z, Fan C, Deng HX", "evidence": [ { "database": "Reactome", "id": "R-HSA-3656253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3656253" } ], "reference": [ { "type": "PubMed", "id": "10480354", "url": "https://glygen.org/publication/PubMed/10480354" } ] }, { "title": "Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Okajima T, Fukumoto S, Furukawa K, Urano T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "10506123", "url": "https://glygen.org/publication/PubMed/10506123" } ] }, { "title": "The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "McCormick C, Duncan G, Goutsos KT, Tufaro F", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "10639137", "url": "https://glygen.org/publication/PubMed/10639137" } ] }, { "title": "The occurrence of three isoforms of heparan sulfate 6-O-sulfotransferase having different specificities for hexuronic acid adjacent to the targeted N-sulfoglucosamine.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Habuchi H, Tanaka M, Habuchi O, Yoshida K, Suzuki H, Ban K, Kimata K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "10644753", "url": "https://glygen.org/publication/PubMed/10644753" } ] }, { "title": "Expression of heparan sulphate L-iduronyl 2-O-sulphotransferase in human kidney 293 cells results in increased D-glucuronyl 2-O-sulphation.", "journal": "The Biochemical journal", "date": "2000", "authors": "Rong J, Habuchi H, Kimata K, Lindahl U, Kusche-Gullberg M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "10677367", "url": "https://glygen.org/publication/PubMed/10677367" } ] }, { "title": "Heparan sulfate proteoglycans on the cell surface: versatile coordinators of cellular functions.", "journal": "The international journal of biochemistry & cell biology", "date": "2000", "authors": "Tumova S, Woods A, Couchman JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "10716625", "url": "https://glygen.org/publication/PubMed/10716625" } ] }, { "title": "Hydrolysis of retinyl esters by pancreatic triglyceride lipase.", "journal": "Biochemistry", "date": "2000", "authors": "van Bennekum AM, Fisher EA, Blaner WS, Harrison EH", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "10769148", "url": "https://glygen.org/publication/PubMed/10769148" } ] }, { "title": "Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene.", "journal": "Hum. Mol. Genet.", "date": "2000", "authors": "Veugelers M, Cat BD, Muyldermans SY, Reekmans G, Delande N, Frints S, Legius E, Fryns JP, Schrander-Stumpel C, Weidle B, Magdalena N, David G", "evidence": [ { "database": "UniProtKB", "id": "O75487", "url": "https://www.uniprot.org/uniprot/O75487" } ], "reference": [ { "type": "PubMed", "id": "10814714", "url": "https://glygen.org/publication/PubMed/10814714" } ] }, { "title": "Structure/function of the human Ga1beta1,3-glucuronosyltransferase. Dimerization and functional activity are mediated by two crucial cysteine residues.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Ouzzine M, Gulberti S, Netter P, Magdalou J, Fournel-Gigleux S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "10842173", "url": "https://glygen.org/publication/PubMed/10842173" } ] }, { "title": "Cloning and expression profiling of Hpa2, a novel mammalian heparanase family member.", "journal": "Biochemical and biophysical research communications", "date": "2000", "authors": "McKenzie E, Tyson K, Stamps A, Smith P, Turner P, Barry R, Hircock M, Patel S, Barry E, Stubberfield C, Terrett J, Page M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "11027606", "url": "https://glygen.org/publication/PubMed/11027606" } ] }, { "title": "Rapid initial removal of chylomicron remnants by the mouse liver does not require hepatically localized apolipoprotein E.", "journal": "Journal of lipid research", "date": "2000", "authors": "Yu KC, Jiang Y, Chen W, Cooper AD", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "11060341", "url": "https://glygen.org/publication/PubMed/11060341" } ] }, { "title": "Multiple isozymes of heparan sulfate/heparin GlcNAc N-deacetylase/GlcN N-sulfotransferase. Structure and activity of the fourth member, NDST4.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Aikawa J, Grobe K, Tsujimoto M, Esko JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "11087757", "url": "https://glygen.org/publication/PubMed/11087757" } ] }, { "title": "Molecular cloning and expression of human UDP-d-Xylose:proteoglycan core protein beta-d-xylosyltransferase and its first isoform XT-II.", "journal": "Journal of molecular biology", "date": "2000", "authors": "Gotting C, Kuhn J, Zahn R, Brinkmann T, Kleesiek K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "11099377", "url": "https://glygen.org/publication/PubMed/11099377" } ] }, { "title": "Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes.", "journal": "Cell motility and the cytoskeleton", "date": "2001", "authors": "Bernard MA, Hall CE, Hogue DA, Cole WG, Scott A, Snuggs MB, Clines GA, Ludecke HJ, Lovett M, Van Winkle WB, Hecht JT", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "11169766", "url": "https://glygen.org/publication/PubMed/11169766" } ] }, { "title": "Retinyl ester secretion by intestinal cells: a specific and regulated process dependent on assembly and secretion of chylomicrons.", "journal": "Journal of lipid research", "date": "2001", "authors": "Nayak N, Harrison EH, Hussain MM", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "11181758", "url": "https://glygen.org/publication/PubMed/11181758" } ] }, { "title": "Characterization of the D-glucuronyl C5-epimerase involved in the biosynthesis of heparin and heparan sulfate.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Li JP, Gong F, El Darwish K, Jalkanen M, Lindahl U", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "11274177", "url": "https://glygen.org/publication/PubMed/11274177" } ] }, { "title": "Identification, retinoid binding, and x-ray analysis of a human retinol-binding protein.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Folli C, Calderone V, Ottonello S, Bolchi A, Zanotti G, Stoppini M, Berni R", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "11274389", "url": "https://glygen.org/publication/PubMed/11274389" } ] }, { "title": "Cloning, Golgi localization, and enzyme activity of the full-length heparin/heparan sulfate-glucuronic acid C5-epimerase.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Crawford BE, Olson SK, Esko JD, Pinhal MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "11279150", "url": "https://glygen.org/publication/PubMed/11279150" } ] }, { "title": "Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity.", "journal": "American journal of human genetics", "date": "2001", "authors": "Cheung PK, McCormick C, Crawford BE, Esko JD, Tufaro F, Duncan G", "evidence": [ { "database": "Reactome", "id": "R-HSA-3656253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3656253" } ], "reference": [ { "type": "PubMed", "id": "11391482", "url": "https://glygen.org/publication/PubMed/11391482" } ] }, { "title": "CX3C chemokine mimicry by respiratory syncytial virus G glycoprotein.", "journal": "Nature immunology", "date": "2001-08", "authors": "Tripp R A, Jones L P, Haynes L M, Zheng H, Murphy P M, Anderson L J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9820960", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9820960" } ], "reference": [ { "type": "PubMed", "id": "11477410", "url": "https://glygen.org/publication/PubMed/11477410" } ] }, { "title": "Biosynthesis of the linkage region of glycosaminoglycans: cloning and activity of galactosyltransferase II, the sixth member of the beta 1,3-galactosyltransferase family (beta 3GalT6).", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Bai X, Zhou D, Brown JR, Crawford BE, Hennet T, Esko JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "11551958", "url": "https://glygen.org/publication/PubMed/11551958" } ] }, { "title": "A novel inhibitor of beta-glucuronidase: L-aspartic acid.", "journal": "Pediatric research", "date": "2001", "authors": "Kreamer BL, Siegel FL, Gourley GR", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "11568288", "url": "https://glygen.org/publication/PubMed/11568288" } ] }, { "title": "Recognition of double-stranded RNA and activation of NF-kappaB by Toll-like receptor 3.", "journal": "Nature", "date": "2001", "authors": "Alexopoulou L, Holt AC, Medzhitov R, Flavell RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833110", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833110" } ], "reference": [ { "type": "PubMed", "id": "11607032", "url": "https://glygen.org/publication/PubMed/11607032" } ] }, { "title": "Heparan sulfate 3-O-sulfotransferase isoform 5 generates both an antithrombin-binding site and an entry receptor for herpes simplex virus, type 1.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Xia G, Chen J, Tiwari V, Ju W, Li JP, Malmstrom A, Shukla D, Liu J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "12138164", "url": "https://glygen.org/publication/PubMed/12138164" } ] }, { "title": "Structural recognition by recombinant human heparanase that plays critical roles in tumor metastasis. Hierarchical sulfate groups with different effects and the essential target disulfated trisaccharide sequence.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Okada Y, Yamada S, Toyoshima M, Dong J, Nakajima M, Sugahara K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "12213822", "url": "https://glygen.org/publication/PubMed/12213822" } ] }, { "title": "Human heparanase is localized within lysosomes in a stable form.", "journal": "Experimental cell research", "date": "2002", "authors": "Goldshmidt O, Nadav L, Aingorn H, Irit C, Feinstein N, Ilan N, Zamir E, Geiger B, Vlodavsky I, Katz BZ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "12441129", "url": "https://glygen.org/publication/PubMed/12441129" } ] }, { "title": "Biosynthesis of heparan sulphate with diverse structures and functions: two alternatively spliced forms of human heparan sulphate 6-O-sulphotransferase-2 having different expression patterns and properties.", "journal": "The Biochemical journal", "date": "2003", "authors": "Habuchi H, Miyake G, Nogami K, Kuroiwa A, Matsuda Y, Kusche-Gullberg M, Habuchi O, Tanaka M, Kimata K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "12492399", "url": "https://glygen.org/publication/PubMed/12492399" } ] }, { "title": "Cloning, characterization, and chromosome mapping of the human GlcAT-S gene.", "journal": "Journal of human genetics", "date": "2002", "authors": "Marcos I, Galan JJ, Borrego S, Antinolo G", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "12522689", "url": "https://glygen.org/publication/PubMed/12522689" } ] }, { "title": "Human lipoprotein lipase: relationship of activity, heparin affinity, and conformation as studied with monoclonal antibodies.", "journal": "Journal of lipid research", "date": "1992", "authors": "Peterson J, Fujimoto WY, Brunzell JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "1279089", "url": "https://glygen.org/publication/PubMed/1279089" } ] }, { "title": "Heterodimer formation is essential for heparanase enzymatic activity.", "journal": "Biochemical and biophysical research communications", "date": "2003", "authors": "Levy-Adam F, Miao HQ, Heinrikson RL, Vlodavsky I, Ilan N", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "12927802", "url": "https://glygen.org/publication/PubMed/12927802" } ] }, { "title": "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.", "journal": "Genome Res.", "date": "2003", "authors": "Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A", "evidence": [ { "database": "UniProtKB", "id": "O75487", "url": "https://www.uniprot.org/uniprot/O75487" } ], "reference": [ { "type": "PubMed", "id": "12975309", "url": "https://glygen.org/publication/PubMed/12975309" } ] }, { "title": "Innate antiviral responses by means of TLR7-mediated recognition of single-stranded RNA.", "journal": "Science (New York, N.Y.)", "date": "2004", "authors": "Diebold SS, Kaisho T, Hemmi H, Akira S, Reis e Sousa C", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833110", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833110" } ], "reference": [ { "type": "PubMed", "id": "14976261", "url": "https://glygen.org/publication/PubMed/14976261" } ] }, { "title": "Structural basis for acceptor substrate recognition of a human glucuronyltransferase, GlcAT-P, an enzyme critical in the biosynthesis of the carbohydrate epitope HNK-1.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Kakuda S, Shiba T, Ishiguro M, Tagawa H, Oka S, Kajihara Y, Kawasaki T, Wakatsuki S, Kato R", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "14993226", "url": "https://glygen.org/publication/PubMed/14993226" } ] }, { "title": "Characterization of severe acute respiratory syndrome-associated coronavirus (SARS-CoV) spike glycoprotein-mediated viral entry.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Simmons G, Reeves JD, Rennekamp AJ, Amberg SM, Piefer AJ, Bates P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "15010527", "url": "https://glygen.org/publication/PubMed/15010527" } ] }, { "title": "Molecular cloning and characterization of a human multisubstrate specific nucleotide-sugar transporter homologous to Drosophila fringe connection.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Suda T, Kamiyama S, Suzuki M, Kikuchi N, Nakayama K, Narimatsu H, Jigami Y, Aoki T, Nishihara S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "15082721", "url": "https://glygen.org/publication/PubMed/15082721" } ] }, { "title": "pH-dependent entry of severe acute respiratory syndrome coronavirus is mediated by the spike glycoprotein and enhanced by dendritic cell transfer through DC-SIGN.", "journal": "Journal of virology", "date": "2004", "authors": "Yang ZY, Huang Y, Ganesh L, Leung K, Kong WP, Schwartz O, Subbarao K, Nabel GJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "15140961", "url": "https://glygen.org/publication/PubMed/15140961" } ] }, { "title": "S protein of severe acute respiratory syndrome-associated coronavirus mediates entry into hepatoma cell lines and is targeted by neutralizing antibodies in infected patients.", "journal": "Journal of virology", "date": "2004", "authors": "Hofmann H, Hattermann K, Marzi A, Gramberg T, Geier M, Krumbiegel M, Kuate S, Uberla K, Niedrig M, Pohlmann S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "15163706", "url": "https://glygen.org/publication/PubMed/15163706" } ] }, { "title": "A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type.", "journal": "American journal of medical genetics. Part A", "date": "2004", "authors": "Faiyaz-Ul-Haque M, Zaidi SH, Al-Ali M, Al-Mureikhi MS, Kennedy S, Al-Thani G, Tsui LC, Teebi AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-3560783", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3560783" } ], "reference": [ { "type": "PubMed", "id": "15211654", "url": "https://glygen.org/publication/PubMed/15211654" } ] }, { "title": "Analysis of the DXD motifs in human xylosyltransferase I required for enzyme activity.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Gotting C, Muller S, Schottler M, Schon S, Prante C, Brinkmann T, Kuhn J, Kleesiek K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "15294915", "url": "https://glygen.org/publication/PubMed/15294915" } ] }, { "title": "Identification of all-trans-retinol:all-trans-13,14-dihydroretinol saturase.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Moise AR, Kuksa V, Imanishi Y, Palczewski K", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "15358783", "url": "https://glygen.org/publication/PubMed/15358783" } ] }, { "title": "Purification and partial characterization of cellular retinol-binding protein, type two, from human small intestine.", "journal": "The Journal of nutrition", "date": "1992", "authors": "Inagami S, Ong DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "1542003", "url": "https://glygen.org/publication/PubMed/1542003" } ] }, { "title": "Human xylosyltransferase I: functional and biochemical characterization of cysteine residues required for enzymic activity.", "journal": "The Biochemical journal", "date": "2005", "authors": "Muller S, Schottler M, Schon S, Prante C, Brinkmann T, Kuhn J, Gotting C, Kleesiek K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "15461586", "url": "https://glygen.org/publication/PubMed/15461586" } ] }, { "title": "Efficient assembly and release of SARS coronavirus-like particles by a heterologous expression system.", "journal": "FEBS letters", "date": "2004", "authors": "Mortola E, Roy P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "15474033", "url": "https://glygen.org/publication/PubMed/15474033" } ] }, { "title": "Two-step mechanism of binding of apolipoprotein E to heparin: implications for the kinetics of apolipoprotein E-heparan sulfate proteoglycan complex formation on cell surfaces.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Futamura M, Dhanasekaran P, Handa T, Phillips MC, Lund-Katz S, Saito H", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "15583000", "url": "https://glygen.org/publication/PubMed/15583000" } ] }, { "title": "Identification and characterization of human Golgi nucleotide sugar transporter SLC35D2, a novel member of the SLC35 nucleotide sugar transporter family.", "journal": "Genomics", "date": "2005", "authors": "Ishida N, Kuba T, Aoki K, Miyatake S, Kawakita M, Sanai Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "15607426", "url": "https://glygen.org/publication/PubMed/15607426" } ] }, { "title": "Lysosomal metabolism of glycoproteins.", "journal": "Glycobiology", "date": "2005", "authors": "Winchester B", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "15647514", "url": "https://glygen.org/publication/PubMed/15647514" } ] }, { "title": "Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB).", "journal": "Journal of inherited metabolic disease", "date": "2005", "authors": "Beesley CE, Jackson M, Young EP, Vellodi A, Winchester BG", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "16151907", "url": "https://glygen.org/publication/PubMed/16151907" } ] }, { "title": "Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment.", "journal": "The Journal of clinical investigation", "date": "2005", "authors": "Marcais C, Verges B, Charriere S, Pruneta V, Merlin M, Billon S, Perrot L, Drai J, Sassolas A, Pennacchio LA, Fruchart-Najib J, Fruchart JC, Durlach V, Moulin P", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "16200213", "url": "https://glygen.org/publication/PubMed/16200213" } ] }, { "title": "Characterization of the N-deacetylase domain from the heparan sulfate N-deacetylase/N-sulfotransferase 2.", "journal": "Biochemical and biophysical research communications", "date": "2006", "authors": "Duncan MB, Liu M, Fox C, Liu J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "16343444", "url": "https://glygen.org/publication/PubMed/16343444" } ] }, { "title": "Palmitoyl transferase activity of lecithin retinol acyl transferase.", "journal": "Biochemistry", "date": "2006", "authors": "Xue L, Jahng WJ, Gollapalli D, Rando RR", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "16939223", "url": "https://glygen.org/publication/PubMed/16939223" } ] }, { "title": "Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C).", "journal": "American journal of human genetics", "date": "2006", "authors": "Fan X, Zhang H, Zhang S, Bagshaw RD, Tropak MB, Callahan JW, Mahuran DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "16960811", "url": "https://glygen.org/publication/PubMed/16960811" } ] }, { "title": "A highly potent inhibitor of cathepsin K (relacatib) reduces biomarkers of bone resorption both in vitro and in an acute model of elevated bone turnover in vivo in monkeys.", "journal": "Bone", "date": "2007", "authors": "Kumar S, Dare L, Vasko-Moser JA, James IE, Blake SM, Rickard DJ, Hwang SM, Tomaszek T, Yamashita DS, Marquis RW, Oh H, Jeong JU, Veber DF, Gowen M, Lark MW, Stroup G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "16962401", "url": "https://glygen.org/publication/PubMed/16962401" } ] }, { "title": "Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).", "journal": "American journal of human genetics", "date": "2006", "authors": "Hrebicek M, Mrazova L, Seyrantepe V, Durand S, Roslin NM, Noskova L, Hartmannova H, Ivanek R, Cizkova A, Poupetova H, Sikora J, Urinovska J, Stranecky V, Zeman J, Lepage P, Roquis D, Verner A, Ausseil J, Beesley CE, Maire I, Poorthuis BJ, van de Kamp J, van Diggelen OP, Wevers RA, Hudson TJ, Fujiwara TM, Majewski J, Morgan K, Kmoch S, Pshezhetsky AV", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "17033958", "url": "https://glygen.org/publication/PubMed/17033958" } ] }, { "title": "XT-II, the second isoform of human peptide-O-xylosyltransferase, displays enzymatic activity.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Voglmeir J, Voglauer R, Wilson IB", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "17194707", "url": "https://glygen.org/publication/PubMed/17194707" } ] }, { "title": "Hydrophobic ligand binding properties of the human lipocalin apolipoprotein M.", "journal": "Journal of lipid research", "date": "2007", "authors": "Ahnstrom J, Faber K, Axler O, Dahlback B", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "17525477", "url": "https://glygen.org/publication/PubMed/17525477" } ] }, { "title": "Mechanisms of provitamin A (carotenoid) and vitamin A (retinol) transport into and out of intestinal Caco-2 cells.", "journal": "Journal of lipid research", "date": "2007", "authors": "During A, Harrison EH", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "17644776", "url": "https://glygen.org/publication/PubMed/17644776" } ] }, { "title": "Structural basis for the high all-trans-retinaldehyde reductase activity of the tumor marker AKR1B10.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Gallego O, Ruiz FX, Ardevol A, Dominguez M, Alvarez R, de Lera AR, Rovira C, Farres J, Fita I, Pares X", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "18087047", "url": "https://glygen.org/publication/PubMed/18087047" } ] }, { "title": "In vitro and in vivo characterization of retinoid synthesis from beta-carotene.", "journal": "Archives of biochemistry and biophysics", "date": "2008", "authors": "Fierce Y, de Morais Vieira M, Piantedosi R, Wyss A, Blaner WS, Paik J", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "18295589", "url": "https://glygen.org/publication/PubMed/18295589" } ] }, { "title": "Structural basis of toll-like receptor 3 signaling with double-stranded RNA.", "journal": "Science (New York, N.Y.)", "date": "2008", "authors": "Liu L, Botos I, Wang Y, Leonard JN, Shiloach J, Segal DM, Davies DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833110", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833110" } ], "reference": [ { "type": "PubMed", "id": "18420935", "url": "https://glygen.org/publication/PubMed/18420935" } ] }, { "title": "The signal peptide anchors apolipoprotein M in plasma lipoproteins and prevents rapid clearance of apolipoprotein M from plasma.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Christoffersen C, Ahnstrom J, Axler O, Christensen EI, Dahlback B, Nielsen LB", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "18460466", "url": "https://glygen.org/publication/PubMed/18460466" } ] }, { "title": "Role of the N- and C-terminal domains in binding of apolipoprotein E isoforms to heparan sulfate and dermatan sulfate: a surface plasmon resonance study.", "journal": "Biochemistry", "date": "2008", "authors": "Yamauchi Y, Deguchi N, Takagi C, Tanaka M, Dhanasekaran P, Nakano M, Handa T, Phillips MC, Lund-Katz S, Saito H", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "18507396", "url": "https://glygen.org/publication/PubMed/18507396" } ] }, { "title": "Neutral and acid retinyl ester hydrolases associated with rat liver microsomes: relationships to microsomal cholesteryl ester hydrolases.", "journal": "Journal of lipid research", "date": "1991", "authors": "Gad MZ, Harrison EH", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "1856611", "url": "https://glygen.org/publication/PubMed/1856611" } ] }, { "title": "Aldo-keto reductases from the AKR1B subfamily: retinoid specificity and control of cellular retinoic acid levels.", "journal": "Chemico-biological interactions", "date": "2009", "authors": "Ruiz FX, Gallego O, Ardevol A, Moro A, Dominguez M, Alvarez S, Alvarez R, de Lera AR, Rovira C, Fita I, Pares X, Farres J", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "19014918", "url": "https://glygen.org/publication/PubMed/19014918" } ] }, { "title": "Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.", "journal": "American journal of human genetics", "date": "1991", "authors": "Yoshida K, Oshima A, Shimmoto M, Fukuhara Y, Sakuraba H, Yanagisawa N, Suzuki Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "1907800", "url": "https://glygen.org/publication/PubMed/1907800" } ] }, { "title": "Retinol saturase promotes adipogenesis and is downregulated in obesity.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "Schupp M, Lefterova MI, Janke J, Leitner K, Cristancho AG, Mullican SE, Qatanani M, Szwergold N, Steger DJ, Curtin JC, Kim RJ, Suh MJ, Albert MR, Engeli S, Gudas LJ, Lazar MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "19139408", "url": "https://glygen.org/publication/PubMed/19139408" } ] }, { "title": "Human beta-galactosidase gene mutations in morquio B disease.", "journal": "American journal of human genetics", "date": "1991", "authors": "Oshima A, Yoshida K, Shimmoto M, Fukuhara Y, Sakuraba H, Suzuki Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "1928092", "url": "https://glygen.org/publication/PubMed/1928092" } ] }, { "title": "New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas.", "journal": "Annals of human genetics", "date": "2009", "authors": "Heinritz W, Huffmeier U, Strenge S, Miterski B, Zweier C, Leinung S, Bohring A, Mitulla B, Peters U, Froster UG", "evidence": [ { "database": "Reactome", "id": "R-HSA-3656237", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3656237" } ], "reference": [ { "type": "PubMed", "id": "19344451", "url": "https://glygen.org/publication/PubMed/19344451" } ] }, { "title": "Human alpha-L-iduronidase: cDNA isolation and expression.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1991", "authors": "Scott HS, Anson DS, Orsborn AM, Nelson PV, Clements PR, Morris CP, Hopwood JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "1946389", "url": "https://glygen.org/publication/PubMed/1946389" } ] }, { "title": "Respiratory syncytial virus-mediated NF-kappa B p65 phosphorylation at serine 536 is dependent on RIG-I, TRAF6, and IKK beta.", "journal": "Journal of virology", "date": "2010", "authors": "Yoboua F, Martel A, Duval A, Mukawera E, Grandvaux N", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833110", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833110" } ], "reference": [ { "type": "PubMed", "id": "20410276", "url": "https://glygen.org/publication/PubMed/20410276" } ] }, { "title": "Target selection of heparan sulfate hexuronic acid 2-O-sulfotransferase.", "journal": "Glycobiology", "date": "2010", "authors": "Smeds E, Feta A, Kusche-Gullberg M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "20554947", "url": "https://glygen.org/publication/PubMed/20554947" } ] }, { "title": "Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.", "journal": "American journal of human genetics", "date": "2010", "authors": "Pang J, Zhang S, Yang P, Hawkins-Lee B, Zhong J, Zhang Y, Ochoa B, Agundez JA, Voelckel MA, Fisher RB, Gu W, Xiong WC, Mei L, She JX, Wang CY", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "20560209", "url": "https://glygen.org/publication/PubMed/20560209" } ] }, { "title": "Mutations in HPSE2 cause urofacial syndrome.", "journal": "American journal of human genetics", "date": "2010", "authors": "Daly SB, Urquhart JE, Hilton E, McKenzie EA, Kammerer RA, Lewis M, Kerr B, Stuart H, Donnai D, Long DA, Burgu B, Aydogdu O, Derbent M, Garcia-Minaur S, Reardon W, Gener B, Shalev S, Smith R, Woolf AS, Black GC, Newman WG", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "20560210", "url": "https://glygen.org/publication/PubMed/20560210" } ] }, { "title": "Heparanase 2 interacts with heparan sulfate with high affinity and inhibits heparanase activity.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Levy-Adam F, Feld S, Cohen-Kaplan V, Shteingauz A, Gross M, Arvatz G, Naroditsky I, Ilan N, Doweck I, Vlodavsky I", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "20576607", "url": "https://glygen.org/publication/PubMed/20576607" } ] }, { "title": "Analysis of the biogenesis of heparan sulfate acetyl-CoA:alpha-glucosaminide N-acetyltransferase provides insights into the mechanism underlying its complete deficiency in mucopolysaccharidosis IIIC.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Durand S, Feldhammer M, Bonneil E, Thibault P, Pshezhetsky AV", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "20650889", "url": "https://glygen.org/publication/PubMed/20650889" } ] }, { "title": "Molecular characterization of beta1,4-galactosyltransferase 7 genetic mutations linked to the progeroid form of Ehlers-Danlos syndrome (EDS).", "journal": "FEBS letters", "date": "2010", "authors": "Bui C, Talhaoui I, Chabel M, Mulliert G, Coughtrie MW, Ouzzine M, Fournel-Gigleux S", "evidence": [ { "database": "Reactome", "id": "R-HSA-3560783", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3560783" } ], "reference": [ { "type": "PubMed", "id": "20691685", "url": "https://glygen.org/publication/PubMed/20691685" } ] }, { "title": "A transmembrane serine protease is linked to the severe acute respiratory syndrome coronavirus receptor and activates virus entry.", "journal": "Journal of virology", "date": "2011", "authors": "Shulla A, Heald-Sargent T, Subramanya G, Zhao J, Perlman S, Gallagher T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "21068237", "url": "https://glygen.org/publication/PubMed/21068237" } ] }, { "title": "A mitochondrial enzyme degrades carotenoids and protects against oxidative stress.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2011", "authors": "Amengual J, Lobo GP, Golczak M, Li HN, Klimova T, Hoppel CL, Wyss A, Palczewski K, von Lintig J", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "21106934", "url": "https://glygen.org/publication/PubMed/21106934" } ] }, { "title": "Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1990", "authors": "Wilson PJ, Morris CP, Anson DS, Occhiodoro T, Bielicki J, Clements PR, Hopwood JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "2122463", "url": "https://glygen.org/publication/PubMed/2122463" } ] }, { "title": "Evidence that TMPRSS2 activates the severe acute respiratory syndrome coronavirus spike protein for membrane fusion and reduces viral control by the humoral immune response.", "journal": "Journal of virology", "date": "2011", "authors": "Glowacka I, Bertram S, Muller MA, Allen P, Soilleux E, Pfefferle S, Steffen I, Tsegaye TS, He Y, Gnirss K, Niemeyer D, Schneider H, Drosten C, Pohlmann S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "21325420", "url": "https://glygen.org/publication/PubMed/21325420" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "O75487", "url": "https://www.uniprot.org/uniprot/O75487" }, { "database": "iPTMnet", "id": "O75487", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75487" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.", "journal": "American journal of human genetics", "date": "2011", "authors": "Baasanjav S, Al-Gazali L, Hashiguchi T, Mizumoto S, Fischer B, Horn D, Seelow D, Ali BR, Aziz SA, Langer R, Saleh AA, Becker C, Nurnberg G, Cantagrel V, Gleeson JG, Gomez D, Michel JB, Stricker S, Lindner TH, Nurnberg P, Sugahara K, Mundlos S, Hoffmann K", "evidence": [ { "database": "Reactome", "id": "R-HSA-3560801", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3560801" } ], "reference": [ { "type": "PubMed", "id": "21763480", "url": "https://glygen.org/publication/PubMed/21763480" } ] }, { "title": "Retinaldehyde is a substrate for human aldo-keto reductases of the 1C subfamily.", "journal": "The Biochemical journal", "date": "2011", "authors": "Ruiz FX, Porte S, Gallego O, Moro A, Ardevol A, Del Rio-Espinola A, Rovira C, Farres J, Pares X", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "21851338", "url": "https://glygen.org/publication/PubMed/21851338" } ] }, { "title": "Respiratory syncytial virus glycoprotein G interacts with DC-SIGN and L-SIGN to activate ERK1 and ERK2.", "journal": "Journal of virology", "date": "2012-02", "authors": "Johnson Teresa R, McLellan Jason S, Graham Barney S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833110", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833110" } ], "reference": [ { "type": "PubMed", "id": "22090124", "url": "https://glygen.org/publication/PubMed/22090124" } ] }, { "title": "Simultaneous treatment of human bronchial epithelial cells with serine and cysteine protease inhibitors prevents severe acute respiratory syndrome coronavirus entry.", "journal": "Journal of virology", "date": "2012", "authors": "Kawase M, Shirato K, van der Hoek L, Taguchi F, Matsuyama S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "22496216", "url": "https://glygen.org/publication/PubMed/22496216" } ] }, { "title": "Mechanisms of coronavirus cell entry mediated by the viral spike protein.", "journal": "Viruses", "date": "2012", "authors": "Belouzard S, Millet JK, Licitra BN, Whittaker GR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "22816037", "url": "https://glygen.org/publication/PubMed/22816037" } ] }, { "title": "Effects of some antituberculous and anti-leprotic drugs on cathepsins B, H and L.", "journal": "Indian journal of clinical biochemistry : IJCB", "date": "2003", "authors": "Kamboj RC, Raghav N, Mittal A, Khurana S, Sadana R, Singh H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "23105391", "url": "https://glygen.org/publication/PubMed/23105391" } ] }, { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology.", "journal": "The EMBO journal", "date": "2013", "authors": "Steentoft C, Vakhrushev SY, Joshi HJ, Kong Y, Vester-Christensen MB, Schjoldager KT, Lavrsen K, Dabelsteen S, Pedersen NB, Marcos-Silva L, Gupta R, Bennett EP, Mandel U, Brunak S, Wandall HH, Levery SB, Clausen H", "evidence": [ { "database": "UniCarbKB", "id": "O75487", "url": "" } ], "reference": [ { "type": "PubMed", "id": "23584533", "url": "https://glygen.org/publication/PubMed/23584533" } ] }, { "title": "Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.", "journal": "American journal of human genetics", "date": "2013", "authors": "Nakajima M, Mizumoto S, Miyake N, Kogawa R, Iida A, Ito H, Kitoh H, Hirayama A, Mitsubuchi H, Miyazaki O, Kosaki R, Horikawa R, Lai A, Mendoza-Londono R, Dupuis L, Chitayat D, Howard A, Leal GF, Cavalcanti D, Tsurusaki Y, Saitsu H, Watanabe S, Lausch E, Unger S, Bonafe L, Ohashi H, Superti-Furga A, Matsumoto N, Sugahara K, Nishimura G, Ikegawa S", "evidence": [ { "database": "Reactome", "id": "R-HSA-4420332", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4420332" } ], "reference": [ { "type": "PubMed", "id": "23664117", "url": "https://glygen.org/publication/PubMed/23664117" } ] }, { "title": "Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder.", "journal": "American journal of human genetics", "date": "2013", "authors": "Malfait F, Kariminejad A, Van Damme T, Gauche C, Syx D, Merhi-Soussi F, Gulberti S, Symoens S, Vanhauwaert S, Willaert A, Bozorgmehr B, Kariminejad MH, Ebrahimiadib N, Hausser I, Huysseune A, Fournel-Gigleux S, De Paepe A", "evidence": [ { "database": "Reactome", "id": "R-HSA-4420332", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4420332" } ], "reference": [ { "type": "PubMed", "id": "23664118", "url": "https://glygen.org/publication/PubMed/23664118" } ] }, { "title": "Two carotenoid oxygenases contribute to mammalian provitamin A metabolism.", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Amengual J, Widjaja-Adhi MA, Rodriguez-Santiago S, Hessel S, Golczak M, Palczewski K, von Lintig J", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "24106281", "url": "https://glygen.org/publication/PubMed/24106281" } ] }, { "title": "TMPRSS2 and ADAM17 cleave ACE2 differentially and only proteolysis by TMPRSS2 augments entry driven by the severe acute respiratory syndrome coronavirus spike protein.", "journal": "Journal of virology", "date": "2014", "authors": "Heurich A, Hofmann-Winkler H, Gierer S, Liepold T, Jahn O, Pohlmann S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "24227843", "url": "https://glygen.org/publication/PubMed/24227843" } ] }, { "title": "Ehlers-Danlos syndrome associated with glycosaminoglycan abnormalities.", "journal": "Advances in experimental medicine and biology", "date": "2014", "authors": "Miyake N, Kosho T, Matsumoto N", "evidence": [ { "database": "Reactome", "id": "R-HSA-3560783", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3560783" } ], "reference": [ { "type": "PubMed", "id": "24443026", "url": "https://glygen.org/publication/PubMed/24443026" } ] }, { "title": "Probing the O-glycoproteome of gastric cancer cell lines for biomarker discovery.", "journal": "Molecular & cellular proteomics : MCP", "date": "2015", "authors": "Campos D, Freitas D, Gomes J, Magalhaes A, Steentoft C, Gomes C, Vester-Christensen MB, Ferreira JA, Afonso LP, Santos LL, Pinto de Sousa J, Mandel U, Clausen H, Vakhrushev SY, Reis CA", "evidence": [ { "database": "UniCarbKB", "id": "O75487", "url": "" } ], "reference": [ { "type": "PubMed", "id": "25813380", "url": "https://glygen.org/publication/PubMed/25813380" } ] }, { "title": "Interaction between human BAP31 and respiratory syncytial virus small hydrophobic (SH) protein.", "journal": "Virology", "date": "2015-08", "authors": "Li Yan, Jain Neeraj, Limpanawat Suweeraya, To Janet, Quistgaard Esben M, Nordlund Par, Thanabalu Thirumaran, Torres Jaume", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833110", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833110" } ], "reference": [ { "type": "PubMed", "id": "25854864", "url": "https://glygen.org/publication/PubMed/25854864" } ] }, { "title": "Genome-Wide Screen Reveals Valosin-Containing Protein Requirement for Coronavirus Exit from Endosomes.", "journal": "Journal of virology", "date": "2015", "authors": "Wong HH, Kumar P, Tay FP, Moreau D, Liu DX, Bard F", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "26311884", "url": "https://glygen.org/publication/PubMed/26311884" } ] }, { "title": "Glycopeptide Antibiotics Potently Inhibit Cathepsin L in the Late Endosome/Lysosome and Block the Entry of Ebola Virus, Middle East Respiratory Syndrome Coronavirus (MERS-CoV), and Severe Acute Respiratory Syndrome Coronavirus (SARS-CoV).", "journal": "The Journal of biological chemistry", "date": "2016", "authors": "Zhou N, Pan T, Zhang J, Li Q, Zhang X, Bai C, Huang F, Peng T, Zhang J, Liu C, Tao L, Zhang H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "26953343", "url": "https://glygen.org/publication/PubMed/26953343" } ] }, { "title": "In vitro characterization of TMPRSS2 inhibition in IPEC-J2 cells.", "journal": "Journal of enzyme inhibition and medicinal chemistry", "date": "2016", "authors": "Paszti-Gere E, Czimmermann E, Ujhelyi G, Balla P, Maiwald A, Steinmetzer T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "27277342", "url": "https://glygen.org/publication/PubMed/27277342" } ] }, { "title": "Identification of Nafamostat as a Potent Inhibitor of Middle East Respiratory Syndrome Coronavirus S Protein-Mediated Membrane Fusion Using the Split-Protein-Based Cell-Cell Fusion Assay.", "journal": "Antimicrobial agents and chemotherapy", "date": "2016", "authors": "Yamamoto M, Matsuyama S, Li X, Takeda M, Kawaguchi Y, Inoue JI, Matsuda Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "27550352", "url": "https://glygen.org/publication/PubMed/27550352" } ] }, { "title": "Hydrolysis of retinyl palmitate by enzymes of rat pancreas and liver. Differentiation of bile salt-dependent and bile salt-independent, neutral retinyl ester hydrolases in rat liver.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Harrison EH, Gad MZ", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "2793848", "url": "https://glygen.org/publication/PubMed/2793848" } ] }, { "title": "WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.", "journal": "American journal of human genetics", "date": "2018", "authors": "White JJ, Mazzeu JF, Coban-Akdemir Z, Bayram Y, Bahrambeigi V, Hoischen A, van Bon BWM, Gezdirici A, Gulec EY, Ramond F, Touraine R, Thevenon J, Shinawi M, Beaver E, Heeley J, Hoover-Fong J, Durmaz CD, Karabulut HG, Marzioglu-Ozdemir E, Cayir A, Duz MB, Seven M, Price S, Ferreira BM, Vianna-Morgante AM, Ellard S, Parrish A, Stals K, Flores-Daboub J, Jhangiani SN, Gibbs RA, Brunner HG, Sutton VR, Lupski JR, Carvalho CMB", "evidence": [ { "database": "UniProtKB", "id": "O75487", "url": "https://www.uniprot.org/uniprot/O75487" } ], "reference": [ { "type": "PubMed", "id": "29276006", "url": "https://glygen.org/publication/PubMed/29276006" } ] }, { "title": "Respiratory syncytial virus prolifically infects N2a neuronal cells, leading to TLR4 and nucleolin protein modulations and RSV F protein co-localization with TLR4 and nucleolin.", "journal": "Journal of biomedical science", "date": "2018", "authors": "Yuan X, Hu T, He H, Qiu H, Wu X, Chen J, Wang M, Chen C, Huang S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9820960", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9820960" } ], "reference": [ { "type": "PubMed", "id": "29427996", "url": "https://glygen.org/publication/PubMed/29427996" } ] }, { "title": "Mapping the O-glycoproteome using site-specific extraction of O-linked glycopeptides (EXoO).", "journal": "Molecular systems biology", "date": "2018", "authors": "Yang W, Ao M, Hu Y, Li QK, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "O75487", "url": "" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "title": "Pathogenic Variants in GPC4 Cause Keipert Syndrome.", "journal": "American journal of human genetics", "date": "2019", "authors": "Amor DJ, Stephenson SEM, Mustapha M, Mensah MA, Ockeloen CW, Lee WS, Tankard RM, Phelan DG, Shinawi M, de Brouwer APM, Pfundt R, Dowling C, Toler TL, Sutton VR, Agolini E, Rinelli M, Capolino R, Martinelli D, Zampino G, Dumic M, Reardon W, Shaw-Smith C, Leventer RJ, Delatycki MB, Kleefstra T, Mundlos S, Mortier G, Bahlo M, Allen NJ, Lockhart PJ", "evidence": [ { "database": "UniProtKB", "id": "O75487", "url": "https://www.uniprot.org/uniprot/O75487" } ], "reference": [ { "type": "PubMed", "id": "30982611", "url": "https://glygen.org/publication/PubMed/30982611" } ] }, { "title": "Angiotensin-converting enzyme 2 (ACE2) as a SARS-CoV-2 receptor: molecular mechanisms and potential therapeutic target.", "journal": "Intensive care medicine", "date": "2020", "authors": "Zhang H, Penninger JM, Li Y, Zhong N, Slutsky AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "32125455", "url": "https://glygen.org/publication/PubMed/32125455" } ] }, { "title": "SARS-CoV-2 Cell Entry Depends on ACE2 and TMPRSS2 and Is Blocked by a Clinically Proven Protease Inhibitor.", "journal": "Cell", "date": "2020", "authors": "Hoffmann M, Kleine-Weber H, Schroeder S, Kruger N, Herrler T, Erichsen S, Schiergens TS, Herrler G, Wu NH, Nitsche A, Muller MA, Drosten C, Pohlmann S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "32142651", "url": "https://glygen.org/publication/PubMed/32142651" } ] }, { "title": "Teicoplanin: an alternative drug for the treatment of COVID-19?", "journal": "International journal of antimicrobial agents", "date": "2020", "authors": "Baron SA, Devaux C, Colson P, Raoult D, Rolain JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "32179150", "url": "https://glygen.org/publication/PubMed/32179150" } ] }, { "title": "A Multibasic Cleavage Site in the Spike Protein of SARS-CoV-2 Is Essential for Infection of Human Lung Cells.", "journal": "Molecular cell", "date": "2020", "authors": "Hoffmann M, Kleine-Weber H, Pohlmann S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "32362314", "url": "https://glygen.org/publication/PubMed/32362314" } ] }, { "title": "Proteolytic Cleavage of the SARS-CoV-2 Spike Protein and the Role of the Novel S1/S2 Site.", "journal": "iScience", "date": "2020", "authors": "Jaimes JA, Millet JK, Whittaker GR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "32512386", "url": "https://glygen.org/publication/PubMed/32512386" } ] }, { "title": "The role of furin cleavage site in SARS-CoV-2 spike protein-mediated membrane fusion in the presence or absence of trypsin.", "journal": "Signal transduction and targeted therapy", "date": "2020", "authors": "Xia S, Lan Q, Su S, Wang X, Xu W, Liu Z, Zhu Y, Wang Q, Lu L, Jiang S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "32532959", "url": "https://glygen.org/publication/PubMed/32532959" } ] }, { "title": "Characterization of heparin and severe acute respiratory syndrome-related coronavirus 2 (SARS-CoV-2) spike glycoprotein binding interactions.", "journal": "Antiviral research", "date": "2020", "authors": "Kim SY, Jin W, Sood A, Montgomery DW, Grant OC, Fuster MM, Fu L, Dordick JS, Woods RJ, Zhang F, Linhardt RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "32653452", "url": "https://glygen.org/publication/PubMed/32653452" } ] }, { "title": "TMPRSS2 and furin are both essential for proteolytic activation of SARS-CoV-2 in human airway cells.", "journal": "Life science alliance", "date": "2020", "authors": "Bestle D, Heindl MR, Limburg H, Van Lam van T, Pilgram O, Moulton H, Stein DA, Hardes K, Eickmann M, Dolnik O, Rohde C, Klenk HD, Garten W, Steinmetzer T, Bottcher-Friebertshauser E", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "32703818", "url": "https://glygen.org/publication/PubMed/32703818" } ] }, { "title": "SARS-CoV-2 Infection Depends on Cellular Heparan Sulfate and ACE2.", "journal": "Cell", "date": "2020", "authors": "Clausen TM, Sandoval DR, Spliid CB, Pihl J, Perrett HR, Painter CD, Narayanan A, Majowicz SA, Kwong EM, McVicar RN, Thacker BE, Glass CA, Yang Z, Torres JL, Golden GJ, Bartels PL, Porell RN, Garretson AF, Laubach L, Feldman J, Yin X, Pu Y, Hauser BM, Caradonna TM, Kellman BP, Martino C, Gordts PLSM, Chanda SK, Schmidt AG, Godula K, Leibel SL, Jose J, Corbett KD, Ward AB, Carlin AF, Esko JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "32970989", "url": "https://glygen.org/publication/PubMed/32970989" } ] }, { "title": "KIM-1/TIM-1 is a Receptor for SARS-CoV-2 in Lung and Kidney.", "journal": "medRxiv : the preprint server for health sciences", "date": "2022", "authors": "Mori Y, Fink C, Ichimura T, Sako K, Mori M, Lee NN, Aschauer P, Padmanabha Das KM, Hong S, Song M, Padera RF, Weins A, Lee LP, Nasr ML, Dekaban GA, Dikeakos JD, Bonventre JV", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "32995803", "url": "https://glygen.org/publication/PubMed/32995803" } ] }, { "title": "Neuropilin-1 facilitates SARS-CoV-2 cell entry and infectivity.", "journal": "Science (New York, N.Y.)", "date": "2020", "authors": "Cantuti-Castelvetri L, Ojha R, Pedro LD, Djannatian M, Franz J, Kuivanen S, van der Meer F, Kallio K, Kaya T, Anastasina M, Smura T, Levanov L, Szirovicza L, Tobi A, Kallio-Kokko H, Osterlund P, Joensuu M, Meunier FA, Butcher SJ, Winkler MS, Mollenhauer B, Helenius A, Gokce O, Teesalu T, Hepojoki J, Vapalahti O, Stadelmann C, Balistreri G, Simons M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "33082293", "url": "https://glygen.org/publication/PubMed/33082293" } ] }, { "title": "Neuropilin-1 is a host factor for SARS-CoV-2 infection.", "journal": "Science (New York, N.Y.)", "date": "2020", "authors": "Daly JL, Simonetti B, Klein K, Chen KE, Williamson MK, Anton-Plagaro C, Shoemark DK, Simon-Gracia L, Bauer M, Hollandi R, Greber UF, Horvath P, Sessions RB, Helenius A, Hiscox JA, Teesalu T, Matthews DA, Davidson AD, Collins BM, Cullen PJ, Yamauchi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "33082294", "url": "https://glygen.org/publication/PubMed/33082294" } ] }, { "title": "Heparan sulfate assists SARS-CoV-2 in cell entry and can be targeted by approved drugs in vitro.", "journal": "Cell discovery", "date": "2020", "authors": "Zhang Q, Chen CZ, Swaroop M, Xu M, Wang L, Lee J, Wang AQ, Pradhan M, Hagen N, Chen L, Shen M, Luo Z, Xu X, Xu Y, Huang W, Zheng W, Ye Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "33298900", "url": "https://glygen.org/publication/PubMed/33298900" } ] }, { "title": "Furin cleavage of SARS-CoV-2 Spike promotes but is not essential for infection and cell-cell fusion.", "journal": "PLoS pathogens", "date": "2021", "authors": "Papa G, Mallery DL, Albecka A, Welch LG, Cattin-Ortola J, Luptak J, Paul D, McMahon HT, Goodfellow IG, Carter A, Munro S, James LC", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "33493182", "url": "https://glygen.org/publication/PubMed/33493182" } ] }, { "title": "Kidney injury molecule-1 is a potential receptor for SARS-CoV-2.", "journal": "Journal of molecular cell biology", "date": "2021", "authors": "Yang C, Zhang Y, Zeng X, Chen H, Chen Y, Yang D, Shen Z, Wang X, Liu X, Xiong M, Chen H, Huang K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "33493263", "url": "https://glygen.org/publication/PubMed/33493263" } ] }, { "title": "Loss of furin cleavage site attenuates SARS-CoV-2 pathogenesis.", "journal": "Nature", "date": "2021", "authors": "Johnson BA, Xie X, Bailey AL, Kalveram B, Lokugamage KG, Muruato A, Zou J, Zhang X, Juelich T, Smith JK, Zhang L, Bopp N, Schindewolf C, Vu M, Vanderheiden A, Winkler ES, Swetnam D, Plante JA, Aguilar P, Plante KS, Popov V, Lee B, Weaver SC, Suthar MS, Routh AL, Ren P, Ku Z, An Z, Debbink K, Diamond MS, Shi PY, Freiberg AN, Menachery VD", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "33494095", "url": "https://glygen.org/publication/PubMed/33494095" } ] }, { "title": "SARS-CoV-2 S protein:ACE2 interaction reveals novel allosteric targets.", "journal": "eLife", "date": "2021", "authors": "Raghuvamsi PV, Tulsian NK, Samsudin F, Qian X, Purushotorman K, Yue G, Kozma MM, Hwa WY, Lescar J, Bond PJ, MacAry PA, Anand GS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "33554856", "url": "https://glygen.org/publication/PubMed/33554856" } ] }, { "title": "Cathepsin L plays a key role in SARS-CoV-2 infection in humans and humanized mice and is a promising target for new drug development.", "journal": "Signal transduction and targeted therapy", "date": "2021", "authors": "Zhao MM, Yang WL, Yang FY, Zhang L, Huang WJ, Hou W, Fan CF, Jin RH, Feng YM, Wang YC, Yang JK", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "33774649", "url": "https://glygen.org/publication/PubMed/33774649" } ] }, { "title": "Glycosylation is a key in SARS-CoV-2 infection.", "journal": "Journal of molecular medicine (Berlin, Germany)", "date": "2021", "authors": "Reis CA, Tauber R, Blanchard V", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "34023935", "url": "https://glygen.org/publication/PubMed/34023935" } ] }, { "title": "TMPRSS2 expression dictates the entry route used by SARS-CoV-2 to infect host cells.", "journal": "The EMBO journal", "date": "2021", "authors": "Koch J, Uckeley ZM, Doldan P, Stanifer M, Boulant S, Lozach PY", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "34159616", "url": "https://glygen.org/publication/PubMed/34159616" } ] }, { "title": "Heparan Sulfate Facilitates Spike Protein-Mediated SARS-CoV-2 Host Cell Invasion and Contributes to Increased Infection of SARS-CoV-2 G614 Mutant and in Lung Cancer.", "journal": "Frontiers in molecular biosciences", "date": "2021", "authors": "Yue J, Jin W, Yang H, Faulkner J, Song X, Qiu H, Teng M, Azadi P, Zhang F, Linhardt RJ, Wang L", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "34179075", "url": "https://glygen.org/publication/PubMed/34179075" } ] }, { "title": "Heparan Sulfate Proteoglycans as Attachment Factor for SARS-CoV-2.", "journal": "ACS central science", "date": "2021", "authors": "Liu L, Chopra P, Li X, Bouwman KM, Tompkins SM, Wolfert MA, de Vries RP, Boons GJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "34235261", "url": "https://glygen.org/publication/PubMed/34235261" } ] }, { "title": "Glycosylation of SARS-CoV-2: structural and functional insights.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Shajahan A, Pepi LE, Rouhani DS, Heiss C, Azadi P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "34235568", "url": "https://glygen.org/publication/PubMed/34235568" } ] }, { "title": "SARS-CoV-2 pseudovirus infectivity and expression of viral entry-related factors ACE2, TMPRSS2, Kim-1, and NRP-1 in human cells from the respiratory, urinary, digestive, reproductive, and immune systems.", "journal": "Journal of medical virology", "date": "2021", "authors": "Zhang F, Li W, Feng J, Ramos da Silva S, Ju E, Zhang H, Chang Y, Moore PS, Guo H, Gao SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "34324210", "url": "https://glygen.org/publication/PubMed/34324210" } ] }, { "title": "Genome-wide CRISPR activation screen identifies candidate receptors for SARS-CoV-2 entry.", "journal": "Science China. Life sciences", "date": "2022", "authors": "Zhu S, Liu Y, Zhou Z, Zhang Z, Xiao X, Liu Z, Chen A, Dong X, Tian F, Chen S, Xu Y, Wang C, Li Q, Niu X, Pan Q, Du S, Xiao J, Wang J, Wei W", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "34431042", "url": "https://glygen.org/publication/PubMed/34431042" } ] }, { "title": "Infection and transmission of SARS-CoV-2 depend on heparan sulfate proteoglycans.", "journal": "The EMBO journal", "date": "2021", "authors": "Bermejo-Jambrina M, Eder J, Kaptein TM, van Hamme JL, Helgers LC, Vlaming KE, Brouwer PJM, van Nuenen AC, Spaargaren M, de Bree GJ, Nijmeijer BM, Kootstra NA, van Gils MJ, Sanders RW, Geijtenbeek TBH", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "34510494", "url": "https://glygen.org/publication/PubMed/34510494" } ] }, { "title": "SARS-CoV-2 S glycoprotein binding to multiple host receptors enables cell entry and infection.", "journal": "Glycoconjugate journal", "date": "2021", "authors": "Trbojevic-Akmacic I, Petrovic T, Lauc G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "34542788", "url": "https://glygen.org/publication/PubMed/34542788" } ] }, { "title": "Proteolytic activation of SARS-CoV-2 spike protein.", "journal": "Microbiology and immunology", "date": "2022", "authors": "Takeda M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "34561887", "url": "https://glygen.org/publication/PubMed/34561887" } ] }, { "title": "Mechanisms of SARS-CoV-2 entry into cells.", "journal": "Nature reviews. Molecular cell biology", "date": "2022", "authors": "Jackson CB, Farzan M, Chen B, Choe H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "34611326", "url": "https://glygen.org/publication/PubMed/34611326" } ] }, { "title": "Cloning, sequencing, and expression of cDNA for human beta-glucuronidase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1987", "authors": "Oshima A, Kyle JW, Miller RD, Hoffmann JW, Powell PP, Grubb JH, Sly WS, Tropak M, Guise KS, Gravel RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "3468507", "url": "https://glygen.org/publication/PubMed/3468507" } ] }, { "title": "Furin cleavage of the SARS-CoV-2 spike is modulated by O-glycosylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2021", "authors": "Zhang L, Mann M, Syed ZA, Reynolds HM, Tian E, Samara NL, Zeldin DC, Tabak LA, Ten Hagen KG", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "34732583", "url": "https://glygen.org/publication/PubMed/34732583" } ] }, { "title": "The glycosylation in SARS-CoV-2 and its receptor ACE2.", "journal": "Signal transduction and targeted therapy", "date": "2021", "authors": "Gong Y, Qin S, Dai L, Tian Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "34782609", "url": "https://glygen.org/publication/PubMed/34782609" } ] }, { "title": "The binding of heparin to spike glycoprotein inhibits SARS-CoV-2 infection by three mechanisms.", "journal": "The Journal of biological chemistry", "date": "2022", "authors": "Paiardi G, Richter S, Oreste P, Urbinati C, Rusnati M, Wade RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "34929169", "url": "https://glygen.org/publication/PubMed/34929169" } ] }, { "title": "Serum glypican-4 is a marker of future vascular risk and mortality in coronary angiography patients.", "journal": "Atherosclerosis", "date": "2022", "authors": "Muendlein A, Brandtner EM, Leiherer A, Geiger K, Heinzle C, Gaenger S, Fraunberger P, Mader A, Saely CH, Drexel H", "evidence": [ { "database": "RefSeq", "id": "NP_001439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001439" } ], "reference": [ { "type": "PubMed", "id": "35202959", "url": "https://glygen.org/publication/PubMed/35202959" } ] }, { "title": "Distinctive Roles of Furin and TMPRSS2 in SARS-CoV-2 Infectivity.", "journal": "Journal of virology", "date": "2022", "authors": "Essalmani R, Jain J, Susan-Resiga D, Andreo U, Evagelidis A, Derbali RM, Huynh DN, Dallaire F, Laporte M, Delpal A, Sutto-Ortiz P, Coutard B, Mapa C, Wilcoxen K, Decroly E, Nq Pham T, Cohen EA, Seidah NG", "evidence": [ { "database": "Reactome", "id": "R-HSA-9694614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614" } ], "reference": [ { "type": "PubMed", "id": "35343766", "url": "https://glygen.org/publication/PubMed/35343766" } ] }, { "title": "Serum glypican-4 is associated with the 10-year clinical outcome of patients with peripheral artery disease.", "journal": "International journal of cardiology", "date": "2022-12-15", "authors": "Muendlein Axel, Heinzle Christine, Leiherer Andreas, Geiger Kathrin, Brandtner Eva Maria, Gaenger Stella, Fraunberger Peter, Saely Christoph H, Drexel Heinz", "evidence": [ { "database": "RefSeq", "id": "NP_001439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001439" } ], "reference": [ { "type": "PubMed", "id": "35944770", "url": "https://glygen.org/publication/PubMed/35944770" } ] }, { "title": "An Unexpected Encounter: Respiratory Syncytial Virus Nonstructural Protein 1 Interacts with Mediator Subunit MED25.", "journal": "Journal of virology", "date": "2022-10-12", "authors": "Van Royen Tessa, Sedeyn Koen, Moschonas George D, Toussaint Wendy, Vuylsteke Marnik, Van Haver Delphi, Impens Francis, Eyckerman Sven, Lemmens Irma, Tavernier Jan, Schepens Bert, Saelens Xavier", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833110", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833110" } ], "reference": [ { "type": "PubMed", "id": "36102648", "url": "https://glygen.org/publication/PubMed/36102648" } ] }, { "title": "Transthyretin: a choroid plexus-specific transport protein in human brain. The 1986 S. Weir Mitchell award.", "journal": "Neurology", "date": "1986", "authors": "Herbert J, Wilcox JN, Pham KT, Fremeau RT Jr, Zeviani M, Dwork A, Soprano DR, Makover A, Goodman DS, Zimmerman EA, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "3714052", "url": "https://glygen.org/publication/PubMed/3714052" } ] }, { "title": "The Shear Stress-Regulated Expression of Glypican-4 in Endothelial Dysfunction In Vitro and Its Clinical Significance in Atherosclerosis.", "journal": "International journal of molecular sciences", "date": "2023-07-18", "authors": "Urschel Katharina, Hug Karsten P, Zuo Hanxiao, B\u00fcttner Michael, Furtmair Roman, Kuehn Constanze, Stumpfe Florian M, Botos Balaz, Achenbach Stephan, Yuan Yan, Dietel Barbara, Tauchi Miyuki", "evidence": [ { "database": "RefSeq", "id": "NP_001439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001439" } ], "reference": [ { "type": "PubMed", "id": "37511353", "url": "https://glygen.org/publication/PubMed/37511353" } ] }, { "title": "Circulating glypican-4 is a new predictor of all-cause mortality in patients with heart failure.", "journal": "Clinical biochemistry", "date": "2023-11", "authors": "Muendlein Axel, Heinzle Christine, Leiherer Andreas, Brandtner Eva Maria, Geiger Kathrin, Gaenger Stella, Fraunberger Peter, Mader Arthur, Saely Christoph H, Drexel Heinz", "evidence": [ { "database": "RefSeq", "id": "NP_001439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001439" } ], "reference": [ { "type": "PubMed", "id": "37844682", "url": "https://glygen.org/publication/PubMed/37844682" } ] }, { "title": "Comparison of apolipoprotein C-II-deficient triacylglycerol-rich lipoproteins and trioleoylglycerol/phosphatidylcholine-stabilized particles as substrates for lipoprotein lipase.", "journal": "Biochimica et biophysica acta", "date": "1986", "authors": "Jackson RL, Tajima S, Yamamura T, Yokoyama S, Yamamoto A", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "3942763", "url": "https://glygen.org/publication/PubMed/3942763" } ] }, { "title": "Interchange of apolipoproteins between chylomicrons and high density lipoproteins during alimentary lipemia in man.", "journal": "The Journal of clinical investigation", "date": "1973", "authors": "Havel RJ, Kane JP, Kashyap ML", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "4345202", "url": "https://glygen.org/publication/PubMed/4345202" } ] }, { "title": "Inhibition of lipoprotein lipase by an apoprotein of human very low density lipoprotein.", "journal": "Biochemical and biophysical research communications", "date": "1972", "authors": "Brown WV, Baginsky ML", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "5057882", "url": "https://glygen.org/publication/PubMed/5057882" } ] }, { "title": "Retinol-binding protein: the transport protein for vitamin A in human plasma.", "journal": "The Journal of clinical investigation", "date": "1968", "authors": "Kanai M, Raz A, Goodman DS", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "5675424", "url": "https://glygen.org/publication/PubMed/5675424" } ] }, { "title": "Human small-intestinal beta-galactosidases. Separation and characterization of one lactase and one hetero beta-galactosidase.", "journal": "The Biochemical journal", "date": "1969", "authors": "Asp NG, Dahlqvist A, Koldovsky O", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "5822067", "url": "https://glygen.org/publication/PubMed/5822067" } ] }, { "title": "Newly administered [3H]retinol is transferred from hepatocytes to stellate cells in liver for storage.", "journal": "Experimental cell research", "date": "1984", "authors": "Blomhoff R, Holte K, Naess L, Berg T", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "6420172", "url": "https://glygen.org/publication/PubMed/6420172" } ] }, { "title": "The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): four additional patients without mental retardation and review of the literature.", "journal": "American journal of medical genetics", "date": "1984", "authors": "Langer LO Jr, Krassikoff N, Laxova R, Scheer-Williams M, Lutter LD, Gorlin RJ, Jennings CG, Day DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-3656253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3656253" } ], "reference": [ { "type": "PubMed", "id": "6496574", "url": "https://glygen.org/publication/PubMed/6496574" } ] }, { "title": "In vivo uptake of chylomicron [3H]retinyl ester by rat liver: evidence for retinol transfer from parenchymal to nonparenchymal cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1982", "authors": "Blomhoff R, Helgerud P, Rasmussen M, Berg T, Norum KR", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "6961410", "url": "https://glygen.org/publication/PubMed/6961410" } ] }, { "title": "Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome.", "journal": "Nature genetics", "date": "1995", "authors": "Scott HS, Blanch L, Guo XH, Freeman C, Orsborn A, Baker E, Sutherland GR, Morris CP, Hopwood JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "7493035", "url": "https://glygen.org/publication/PubMed/7493035" } ] }, { "title": "Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1).", "journal": "Nature genetics", "date": "1995", "authors": "Ahn J, Ludecke HJ, Lindow S, Horton WA, Lee B, Wagner MJ, Horsthemke B, Wells DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-3656253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3656253" } ], "reference": [ { "type": "PubMed", "id": "7550340", "url": "https://glygen.org/publication/PubMed/7550340" } ] }, { "title": "Cloning of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene from the Treacher Collins syndrome candidate region at 5q32-q33.1.", "journal": "Genomics", "date": "1995", "authors": "Dixon J, Loftus SK, Gladwin AJ, Scambler PJ, Wasmuth JJ, Dixon MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "7601448", "url": "https://glygen.org/publication/PubMed/7601448" } ] }, { "title": "Role of heparan sulfate proteoglycans in the binding and uptake of apolipoprotein E-enriched remnant lipoproteins by cultured cells.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Ji ZS, Brecht WJ, Miranda RD, Hussain MM, Innerarity TL, Mahley RW", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "7683668", "url": "https://glygen.org/publication/PubMed/7683668" } ] }, { "title": "Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome.", "journal": "Human molecular genetics", "date": "1995", "authors": "Ludecke HJ, Wagner MJ, Nardmann J, La Pillo B, Parrish JE, Willems PJ, Haan EA, Frydman M, Hamers GJ, Wells DE, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-3656253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3656253" } ], "reference": [ { "type": "PubMed", "id": "7711731", "url": "https://glygen.org/publication/PubMed/7711731" } ] }, { "title": "Retinyl ester hydrolytic activity associated with human intestinal brush border membranes.", "journal": "The American journal of clinical nutrition", "date": "1994", "authors": "Rigtrup KM, McEwen LR, Said HM, Ong DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "8017323", "url": "https://glygen.org/publication/PubMed/8017323" } ] }, { "title": "Disruption of the transthyretin gene results in mice with depressed levels of plasma retinol and thyroid hormone.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1993", "authors": "Episkopou V, Maeda S, Nishiguchi S, Shimada K, Gaitanaris GA, Gottesman ME, Robertson EJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "8384721", "url": "https://glygen.org/publication/PubMed/8384721" } ] }, { "title": "Lipoprotein lipase-mediated uptake of lipoprotein in human fibroblasts: evidence for an LDL receptor-independent internalization pathway.", "journal": "Journal of lipid research", "date": "1996", "authors": "Fernandez-Borja M, Bellido D, Vilella E, Olivecrona G, Vilaro S", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "8728311", "url": "https://glygen.org/publication/PubMed/8728311" } ] }, { "title": "Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B).", "journal": "Human molecular genetics", "date": "1996", "authors": "Weber B, Blanch L, Clements PR, Scott HS, Hopwood JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "8776591", "url": "https://glygen.org/publication/PubMed/8776591" } ] }, { "title": "The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes.", "journal": "Nature genetics", "date": "1996", "authors": "Stickens D, Clines G, Burbee D, Ramos P, Thomas S, Hogue D, Hecht JT, Lovett M, Evans GA", "evidence": [ { "database": "Reactome", "id": "R-HSA-3656237", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3656237" } ], "reference": [ { "type": "PubMed", "id": "8782816", "url": "https://glygen.org/publication/PubMed/8782816" } ] }, { "title": "Positional cloning of a gene involved in hereditary multiple exostoses.", "journal": "Human molecular genetics", "date": "1996", "authors": "Wuyts W, Van Hul W, Wauters J, Nemtsova M, Reyniers E, Van Hul EV, De Boulle K, de Vries BB, Hendrickx J, Herrygers I, Bossuyt P, Balemans W, Fransen E, Vits L, Coucke P, Nowak NJ, Shows TB, Mallet L, van den Ouweland AM, McGaughran J, Halley DJ, Willems PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-3656237", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3656237" } ], "reference": [ { "type": "PubMed", "id": "8894688", "url": "https://glygen.org/publication/PubMed/8894688" } ] }, { "title": "Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies.", "journal": "American journal of human genetics", "date": "1997", "authors": "Hecht JT, Hogue D, Wang Y, Blanton SH, Wagner M, Strong LC, Raskind W, Hansen MF, Wells D", "evidence": [ { "database": "Reactome", "id": "R-HSA-3656253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3656253" } ], "reference": [ { "type": "PubMed", "id": "8981950", "url": "https://glygen.org/publication/PubMed/8981950" } ] }, { "title": "Novel mutations in Sanfilippo A syndrome: implications for enzyme function.", "journal": "Human molecular genetics", "date": "1997", "authors": "Weber B, Guo XH, Wraith JE, Cooper A, Kleijer WJ, Bunge S, Hopwood JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096" } ], "reference": [ { "type": "PubMed", "id": "9285796", "url": "https://glygen.org/publication/PubMed/9285796" } ] }, { "title": "Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.", "journal": "American journal of human genetics", "date": "1997", "authors": "Philippe C, Porter DE, Emerton ME, Wells DE, Simpson AH, Monaco AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-3656237", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3656237" } ], "reference": [ { "type": "PubMed", "id": "9326317", "url": "https://glygen.org/publication/PubMed/9326317" } ] }, { "title": "Molecular cloning and expression of mouse and human cDNAs encoding heparan sulfate D-glucosaminyl 3-O-sulfotransferase.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Shworak NW, Liu J, Fritze LM, Schwartz JJ, Zhang L, Logeart D, Rosenberg RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "9346953", "url": "https://glygen.org/publication/PubMed/9346953" } ] }, { "title": "Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.", "journal": "American journal of human genetics", "date": "1998", "authors": "Wuyts W, Van Hul W, De Boulle K, Hendrickx J, Bakker E, Vanhoenacker F, Mollica F, Ludecke HJ, Sayli BS, Pazzaglia UE, Mortier G, Hamel B, Conrad EU, Matsushita M, Raskind WH, Willems PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "9463333", "url": "https://glygen.org/publication/PubMed/9463333" } ] }, { "title": "Molecular cloning and expression of glucuronyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Kitagawa H, Tone Y, Tamura J, Neumann KW, Ogawa T, Oka S, Kawasaki T, Sugahara K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "9506957", "url": "https://glygen.org/publication/PubMed/9506957" } ] }, { "title": "Molecular characterization and expression of heparan-sulfate 6-sulfotransferase. Complete cDNA cloning in human and partial cloning in Chinese hamster ovary cells.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Habuchi H, Kobayashi M, Kimata K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "9535912", "url": "https://glygen.org/publication/PubMed/9535912" } ] }, { "title": "The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate.", "journal": "Nature genetics", "date": "1998", "authors": "McCormick C, Leduc Y, Martindale D, Mattison K, Esford LE, Dyer AP, Tufaro F", "evidence": [ { "database": "Reactome", "id": "R-HSA-3656253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3656253" } ], "reference": [ { "type": "PubMed", "id": "9620772", "url": "https://glygen.org/publication/PubMed/9620772" } ] }, { "title": "GPC4, the gene for human K-glypican, flanks GPC3 on Xq26: deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome.", "journal": "Genomics", "date": "1998", "authors": "Veugelers M, Vermeesch J, Watanabe K, Yamaguchi Y, Marynen P, David G", "evidence": [ { "database": "UniProtKB", "id": "O75487", "url": "https://www.uniprot.org/uniprot/O75487" } ], "reference": [ { "type": "PubMed", "id": "9787072", "url": "https://glygen.org/publication/PubMed/9787072" } ] }, { "title": "Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis.", "journal": "Investigative ophthalmology & visual science", "date": "1999", "authors": "Seeliger MW, Biesalski HK, Wissinger B, Gollnick H, Gielen S, Frank J, Beck S, Zrenner E", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "9888420", "url": "https://glygen.org/publication/PubMed/9888420" } ] }, { "title": "A beta-1,3-N-acetylglucosaminyltransferase with poly-N-acetyllactosamine synthase activity is structurally related to beta-1,3-galactosyltransferases.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Zhou D, Dinter A, Gutierrez Gallego R, Kamerling JP, Vliegenthart JF, Berger EG, Hennet T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "9892646", "url": "https://glygen.org/publication/PubMed/9892646" } ] }, { "title": "Molecular cloning and expression of a third member of the heparan sulfate/heparin GlcNAc N-deacetylase/ N-sulfotransferase family.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Aikawa J, Esko JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "9915799", "url": "https://glygen.org/publication/PubMed/9915799" } ] }, { "title": "Molecular and biochemical characterization of lecithin retinol acyltransferase.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Ruiz A, Winston A, Lim YH, Gilbert BA, Rando RR, Bok D", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "9920938", "url": "https://glygen.org/publication/PubMed/9920938" } ] }, { "title": "Retinyl esters are hydrolyzed in early endosomes of J774 macrophages.", "journal": "Journal of lipid research", "date": "1999", "authors": "Hagen E, Myhre AM, Tjelle TE, Berg T, Norum KR", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "9925661", "url": "https://glygen.org/publication/PubMed/9925661" } ] }, { "title": "Multiple isoforms of heparan sulfate D-glucosaminyl 3-O-sulfotransferase. Isolation, characterization, and expression of human cdnas and identification of distinct genomic loci.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Shworak NW, Liu J, Petros LM, Zhang L, Kobayashi M, Copeland NG, Jenkins NA, Rosenberg RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "9988767", "url": "https://glygen.org/publication/PubMed/9988767" } ] } ], "pathway": [ { "id": "hsa:2239", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2239", "resource": "KEGG Pathway" }, { "id": "R-HSA-1971475", "name": "A tetrasaccharide linker sequence is required for GAG synthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475", "resource": "Reactome", "description": "A tetrasaccharide linker sequence is required for GAG synthesis" }, { "id": "R-HSA-2022928", "name": "HS-GAG biosynthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928", "resource": "Reactome", "description": "HS-GAG biosynthesis" }, { "id": "R-HSA-2024096", "name": "HS-GAG degradation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024096", "resource": "Reactome", "description": "HS-GAG degradation" }, { "id": "R-HSA-3560783", "name": "Defective B4GALT7 causes EDS, progeroid type", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3560783", "resource": "Reactome", "description": "Defective B4GALT7 causes EDS, progeroid type" }, { "id": "R-HSA-3560801", "name": "Defective B3GAT3 causes JDSSDHD", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3560801", "resource": "Reactome", "description": "Defective B3GAT3 causes JDSSDHD" }, { "id": "R-HSA-3656237", "name": "Defective EXT2 causes exostoses 2", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3656237", "resource": "Reactome", "description": "Defective EXT2 causes exostoses 2" }, { "id": "R-HSA-3656253", "name": "Defective EXT1 causes exostoses 1, TRPS2 and CHDS", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3656253", "resource": "Reactome", "description": "Defective EXT1 causes exostoses 1, TRPS2 and CHDS" }, { "id": "R-HSA-4420332", "name": "Defective B3GALT6 causes EDSP2 and SEMDJL1", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4420332", "resource": "Reactome", "description": "Defective B3GALT6 causes EDSP2 and SEMDJL1" }, { "id": "R-HSA-9694614", "name": "Attachment and Entry", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9694614", "resource": "Reactome", "description": "Attachment and Entry" }, { "id": "R-HSA-975634", "name": "Retinoid metabolism and transport", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634", "resource": "Reactome", "description": "Retinoid metabolism and transport" }, { "id": "R-HSA-9820960", "name": "Respiratory syncytial virus (RSV) attachment and entry", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9820960", "resource": "Reactome", "description": "Respiratory syncytial virus (RSV) attachment and entry" }, { "id": "R-HSA-9833110", "name": "RSV-host interactions", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833110", "resource": "Reactome", "description": "RSV-host interactions" } ], "orthologs": [ { "uniprot_canonical_ac": "P51655-1", "protein_name": "Glypican-4", "gene_name": "Gpc4", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MARLGLLALLCTLAALSASLLAAELKSKSCSEVRRLYVSKGFNKNDAPLYEINGDHLKICPQDYTCCSQEMEEKYSLQSKDDFKTVVSEQCNHLQAIFASRYKKFDEFFKELLENAEKSLNDMFVKTYGHLYMQNSELFKDLFVELKRYYVAGNVNLEEMLNDFWARLLERMFRLVNSQYHFTDEYLECVSKYTEQLKPFGDVPRKLKLQVTRAFVAARTFAQGLAVARDVVSKVSVVNPTAQCTHALLKMIYCSHCRGLVTVKPCYNYCSNIMRGCLANQGDLDFEWNNFIDAMLMVAERLEGPFNIESVMDPIDVKISDAIMNMQDNSVQVSQKVFQGCGPPKPLPAGRISRSISESAFSARFRPYHPEQRPTTAAGTSLDRLVTDVKEKLKQAKKFWSSLPSTVCNDERMAAGNENEDDCWNGKGKSRYLFAVTGNGLANQGNNPEVQVDTSKPDILILRQIMALRVMTSKMKNAYNGNDVDFFDISDESSGEGSGSGCEYQQCPSEFEYNATDHSGKSANEKADSAGGAHAEAKPYLLAALCILFLAVQGEWR", "length": 557 }, "evidence": [ { "id": "45917428", "url": "http://www.informatics.jax.org/homology/45917428", "database": "MGI" }, { "id": "O75487", "url": "https://omabrowser.org/oma/group/O75487/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q642B0-1", "protein_name": "Glypican 4", "gene_name": "Gpc4", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MARLGLLALLCTLAALSASLLAAEPKSKSCSEVRRLYVSKGFNKNDAPLYEINGDHLKICSQDYTCCSQEMEEKYSLQSKDDFQTVVSEQCNHLQAIFASRYKKFDEFFKELLENAEKSLNDMFVKTYGHLYMQNSELFKDLFVELKRYYVAGNVNLEEMLNDFWARLLERMFRLVNSQYHFTDEYLECVSKYTEQLKPFGDVPRKLKLQVTRAFVAARTFAQGLAVARDVVNRVSVVNPTAQCTQALLKMIYCSHCRGLVTVKPCYNYCSNIMRGCLANQGDLDLEWNNFIDAMLMVAERLEGPFNIESVMDPIDVKISDAIMNMQDNSVQVSQKVFQGCGPPKPLPAGRISRSISESAFSARFRPYHPEQRPTTAAGTSLDRLVTDVKEKLKQAKKFWSSLPSTVCNDERMAAGNENEDDCWNGKSKSRYLFAVTGNGLANQGNNPEVQVDTSKPDILILRQIMALRVMTSKMKNAYNGNDVDFFDISDESSGEGSGSGCEYQQCPSEFEYNATDHSGKSANEKADSAGGAPAEAKPYLLAALCILFLAVQGEWR", "length": 557 }, "evidence": [ { "id": "45917428", "url": "http://www.informatics.jax.org/homology/45917428", "database": "MGI" }, { "id": "O75487", "url": "https://omabrowser.org/oma/group/O75487/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9VUG1-1", "protein_name": "LD47466p", "gene_name": "dlp", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MLHQQQQQQHLHCRRKATATTTARLVIFSSPLLLLLLTTHLPPTLQADNGPAPQVAALAAPNPAGGVAGSSIIDQFSPNCSAVTHIFQARGIDAIEIPQKPSNERVLRYCESPSVGTCCTYNMETRMAMQSRQQLEGHTKDQISRMSGILGSKATKFKDIFTALLKESRTQFNSMFIRTYGVIYERNSYVFSDLFKELETYFANGRVDLLEVMDKFFNTLYQKMFTVLNTQYTFDENYMRCVSEHMKELKPFGDVPDKLSVQIKRSFVATRTYGQALTTASEVAKKVLNVRLNADCTGALTKMQHCGACKGYTEKPCTNYCVNVIKGCLHYQHEFDSEWENFAMAMDKVAERLLGSFNIVMVVEPLNIKISEAIMNFQDSGQDITNRVFQGCGRPKLKKMKRSISPKLQGVQILNARSPVEADTLDIDETLDEAIVLRERRAAEPGSQETSAQQSQEQGVGKSGNGGGGGGGNNRRQQQRRKQQQQRRKQQNNRDDNDDDDNESGGGREPILDRIVRDIRQRVKDYKKFWSNLPHSVCSNEDIASSSDVDGMCWNGHTIDRYMHSITTEHGSNPEFTGNPASTKQTAQMASQLSHLKNAIVHLRNAYNGQDVEWSEQEELPYAGSGAGSGSGSEDDEDDDEGSGLGPFEPSHKPDVERPSVDADNDDDEDAGGRGHMPTHTSRPTSGVDDKNPLIHTTHFDQDHNDLDEDHRQLDEDEDTDAGHDGANDNRSSDAPEKMTLRRALVVYLLPLYMAWFGGVCADLL", "length": 765 }, "evidence": [ { "id": "O75487", "url": "https://omabrowser.org/oma/group/O75487/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 10, "go_terms": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "O75487", "url": "https://www.uniprot.org/uniprot/O75487" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O75487", "url": "https://www.uniprot.org/uniprot/O75487" } ], "pmid": "" }, { "name": "Golgi lumen", "id": "GO:0005796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005796", "evidence": [ { "database": "UniProtKB", "id": "O75487", "url": "https://www.uniprot.org/uniprot/O75487" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O75487", "url": "https://www.uniprot.org/uniprot/O75487" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "O75487", "url": "https://www.uniprot.org/uniprot/O75487" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "O75487", "url": "https://www.uniprot.org/uniprot/O75487" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "O75487", "url": "https://www.uniprot.org/uniprot/O75487" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "O75487", "url": "https://www.uniprot.org/uniprot/O75487" } ], "pmid": "" }, { "name": "lysosomal lumen", "id": "GO:0043202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043202", "evidence": [ { "database": "UniProtKB", "id": "O75487", "url": "https://www.uniprot.org/uniprot/O75487" } ], "pmid": "" }, { "name": "collagen-containing extracellular matrix", "id": "GO:0062023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062023", "evidence": [ { "database": "UniProtKB", "id": "O75487", "url": "https://www.uniprot.org/uniprot/O75487" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "coreceptor activity", "id": "GO:0015026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015026", "evidence": [ { "database": "UniProtKB", "id": "O75487", "url": "https://www.uniprot.org/uniprot/O75487" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "O75487", "url": "https://www.uniprot.org/uniprot/O75487" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "O75487", "url": "https://www.uniprot.org/uniprot/O75487" } ], "pmid": "" }, { "name": "regulation of signal transduction", "id": "GO:0009966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009966", "evidence": [ { "database": "UniProtKB", "id": "O75487", "url": "https://www.uniprot.org/uniprot/O75487" } ], "pmid": "" }, { "name": "synaptic membrane adhesion", "id": "GO:0099560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099560", "evidence": [ { "database": "UniProtKB", "id": "O75487", "url": "https://www.uniprot.org/uniprot/O75487" } ], "pmid": "" }, { "name": "regulation of neurotransmitter receptor localization to postsynaptic specialization membrane", "id": "GO:0098696", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098696", "evidence": [ { "database": "UniProtKB", "id": "O75487", "url": "https://www.uniprot.org/uniprot/O75487" } ], "pmid": "" }, { "name": "regulation of presynapse assembly", "id": "GO:1905606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905606", "evidence": [ { "database": "UniProtKB", "id": "O75487", "url": "https://www.uniprot.org/uniprot/O75487" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "glypican-4 O-glycosylated 1 (human)", "definition": "A glypican-4 (human) that has been O-glycosylated at the residue equivalent to Thr-375 of the amino acid sequence represented by UniProtKB:O75487-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:O75487-1, Thr-375, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050837", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050837" } ] }, { "name": "glypican-4 O-glycosylated 2 (human)", "definition": "A glypican-4 (human) that has been O-glycosylated at the residue equivalent to Thr-375 of the amino acid sequence represented by UniProtKB:O75487-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O75487-1, Thr-375, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050838", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050838" } ] } ], "site_annotation": [ { "start_pos": 514, "end_pos": 516, "annotation": "n_glycosylation_sequon" } ], "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": [ 514 ], "o_linked_sites": [ 365, 366, 375, 376, 380, 381, 494, 498, 500 ], "snv_sites": [ 47, 181, 234, 274, 375, 376, 391, 448, 453, 491, 494, 514 ], "glycation_sites": [], "phosphorylation_sites": [ 357 ], "sequon_annotation_sites": [ { "start_pos": 514, "end_pos": 516 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 14 }, { "field": "total_sites", "count": 9 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 8 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 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": 10 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 5 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_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": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 13 }, { "field": "total_sites", "count": 12 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 7 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 183 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }