{ "uniprot_canonical_ac": "P02753-1", "uniprot_ac": "P02753", "uniprot_id": "RET4_HUMAN", "mass": { "chemical_mass": 23010.0, "monoisotopic_mass": 23010.0 }, "refseq": { "ac": "NP_001310446", "name": "retinol-binding protein 4 isoform a precursor", "summary": "This protein belongs to the lipocalin family and is the specific carrier for retinol (vitamin A alcohol) in the blood. It delivers retinol from the liver stores to the peripheral tissues. In plasma, the RBP-retinol complex interacts with transthyretin which prevents its loss by filtration through the kidney glomeruli. A deficiency of vitamin A blocks secretion of the binding protein posttranslationally and results in defective delivery and supply to the epidermal cells. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310446" }, "gene_names": [ { "name": "RBP4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P02753", "id": "P02753" }, { "name": "MCOPCB10; RDCCAS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310446", "id": "NP_001310446" }, { "name": "PRO2222", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P02753", "id": "P02753" }, { "name": "RBP4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310446", "id": "NP_001310446" }, { "name": "hCG_37964", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P02753", "id": "P02753" } ], "protein_names": [ { "name": "Retinol-binding protein 4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P02753" }, { "name": "PRBP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02753" }, { "name": "Plasma retinol-binding protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02753" }, { "name": "RBP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02753" }, { "name": "retinol-binding protein 4 isoform a precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310446", "id": "NP_001310446" }, { "name": "retinol-binding protein 4, interstitial; RBP; PRBP; plasma retinol-binding protein; retinol binding protein 4, plasma", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310446", "id": "NP_001310446" } ], "function": [ { "annotation": "Are variants of the RBP4 gene associated with serum retinol-binding protein 4 concentrations and carotid intima-media thickness values in women with obesity?", "evidence": [ { "database": "RefSeq", "id": "NP_001310446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310446" }, { "database": "PubMed", "id": "37858746", "url": "https://glygen.org/publication/PubMed/37858746" } ] }, { "annotation": "Clinical, genetic and biochemical signatures of RBP4-related ocular malformations. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001310446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310446" }, { "database": "PubMed", "id": "37586836", "url": "https://glygen.org/publication/PubMed/37586836" } ] }, { "annotation": "Does Retinol-Binding Protein 4 (holo- and apo-RBP4) Increase or Remain Constant in Sera from Patients with Hypothyroidism?", "evidence": [ { "database": "RefSeq", "id": "NP_001310446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310446" }, { "database": "PubMed", "id": "38171813", "url": "https://glygen.org/publication/PubMed/38171813" } ] }, { "annotation": "Retinol-binding protein that mediates retinol transport in blood plasma (PubMed:5541771). Delivers retinol from the liver stores to the peripheral tissues (Probable). Transfers the bound all-trans retinol to STRA6, that then facilitates retinol transport across the cell membrane (PubMed:22665496).", "evidence": [ { "database": "UniProtKB", "id": "P02753", "url": "https://www.uniprot.org/uniprot/P02753#function" }, { "database": "PubMed", "id": "22665496", "url": "https://glygen.org/publication/PubMed/22665496" }, { "database": "PubMed", "id": "5541771", "url": "https://glygen.org/publication/PubMed/5541771" } ] }, { "annotation": "Retinol-binding protein that mediates retinol transport in blood plasma.", "evidence": [ { "database": "UniProtKB", "id": "Q5VY30", "url": "https://www.uniprot.org/uniprot/Q5VY30#function" }, { "database": "UniProtKB", "id": "PIRNR036893", "url": "https://www.uniprot.org/uniprot/PIRNR036893#function" } ] }, { "annotation": "Targeting Retinol-Binding Protein 4 (RBP4) in the Management of Cardiometabolic Diseases. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001310446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310446" }, { "database": "PubMed", "id": "37587250", "url": "https://glygen.org/publication/PubMed/37587250" } ] }, { "annotation": "This protein belongs to the lipocalin family and is the specific carrier for retinol (vitamin A alcohol) in the blood. It delivers retinol from the liver stores to the peripheral tissues. In plasma, the RBP-retinol complex interacts with transthyretin which prevents its loss by filtration through the kidney glomeruli. A deficiency of vitamin A blocks secretion of the binding protein posttranslationally and results in defective delivery and supply to the epidermal cells. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001310446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310446" } ] }, { "annotation": "Visfatin and Retinol Binding Protein-4 in Young-Onset Type 2 Diabetes Mellitus. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001310446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310446" }, { "database": "PubMed", "id": "37512089", "url": "https://glygen.org/publication/PubMed/37512089" } ] } ], "disease": [ { "disease_id": "MONDO:0014060", "recommended_name": { "id": "MONDO:0014060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014060", "name": "progressive retinal dystrophy due to retinol transport defect", "description": "" }, "synonyms": [ { "id": "MONDO:0014060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014060", "name": "retinol dystrophy-iris coloboma-comedogenic acne syndrome", "description": "" }, { "id": "MONDO:0014060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014060", "name": "RDCCAS", "description": "" }, { "id": "MONDO:0014060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014060", "name": "retinal dystrophy, iris coloboma, and comedogenic acne syndrome", "description": "" }, { "id": "MIM:615147", "resource": "MIM", "url": "https://www.omim.org/entry/615147", "name": "Retinal dystrophy, iris coloboma, and comedogenic acne syndrome", "description": "Retinal dystrophy, iris coloboma, and comedogenic acne syndrome" } ], "evidence": [ { "id": "615147", "database": "MIM", "url": "https://www.omim.org/entry/615147" } ] }, { "disease_id": "MONDO:0014635", "recommended_name": { "id": "MONDO:0014635", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014635", "name": "microphthalmia, isolated, with coloboma 10", "description": "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the RBP4 gene." }, "synonyms": [ { "id": "MONDO:0014635", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014635", "name": "RBP4 microphthalmia, isolated, with coloboma", "description": "" }, { "id": "MONDO:0014635", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014635", "name": "microphthalmia, isolated, with coloboma 10", "description": "" }, { "id": "MONDO:0014635", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014635", "name": "microphthalmia, isolated, with coloboma caused by mutation in RBP4", "description": "" }, { "id": "MONDO:0014635", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014635", "name": "microphthalmia, isolated, with coloboma type 10", "description": "" }, { "id": "MONDO:0014635", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014635", "name": "MCOPCB10", "description": "" }, { "id": "MIM:616428", "resource": "MIM", "url": "https://www.omim.org/entry/616428", "name": "Microphthalmia, isolated, with coloboma, 10", "description": "Microphthalmia, isolated, with coloboma, 10" } ], "evidence": [ { "id": "616428", "database": "MIM", "url": "https://www.omim.org/entry/616428" } ] } ], "snv": [ { "evidence": [ { "id": "P02753", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P02753" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 131, "end_pos": 131, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "10", "chr_pos": "93593999", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T131", "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": "" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": 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"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": 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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" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "93.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000138207", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138207" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "55.32", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000138207", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138207" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "64.66", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000138207", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138207" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000138207", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138207" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "96.71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000138207", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138207" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "80.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000138207", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138207" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "69.11", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000138207", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138207" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "78.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000138207", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138207" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "68.73", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000138207", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138207" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "58", "present": "LOW", 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"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": "" 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"" }, { "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", 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"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 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"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 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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": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P02753", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02753" } ], "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": 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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": "P02753", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02753" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02753" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"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", 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Sci.", "date": "1981", "authors": "Rask L, Anundi H, B\u00f6hme J, Eriksson U, Ronne H, Sege K, Peterson P A", "evidence": [ { "database": "UniProtKB", "id": "P02753", "url": "https://www.uniprot.org/uniprot/P02753" } ], "reference": [ { "type": "PubMed", "id": "6942701", "url": "https://glygen.org/publication/PubMed/6942701" } ] }, { "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": "Characterization of two post-translationally processed forms of human serum retinol-binding protein: altered ratios in chronic renal failure.", "journal": "J. Lipid Res.", "date": "1995", "authors": "Jaconi S, Rose K, Hughes G J, Saurat J H, Siegenthaler G", "evidence": [ { "database": "UniProtKB", "id": "P02753", "url": "https://www.uniprot.org/uniprot/P02753" } ], "reference": [ { "type": "PubMed", "id": "7666002", "url": "https://glygen.org/publication/PubMed/7666002" } ] }, { "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": "Structure of a complex of two plasma proteins: transthyretin and retinol-binding protein.", "journal": "Science", "date": 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