{ "uniprot_canonical_ac": "O75845-1", "uniprot_ac": "O75845", "uniprot_id": "SC5D_HUMAN", "mass": { "chemical_mass": 35301.0, "monoisotopic_mass": 35301.0 }, "refseq": { "ac": "NP_001020127", "name": "lathosterol oxidase", "summary": "This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020127" }, "gene_names": [ { "name": "SC5D", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75845", "id": "O75845" }, { "name": "ERG3; S5DES; SC5DL", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020127", "id": "NP_001020127" }, { "name": "SC5DL", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75845", "id": "O75845" }, { "name": "SC5D", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020127", "id": "NP_001020127" } ], "protein_names": [ { "name": "Lathosterol oxidase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75845" }, { "name": "1.14.19.20", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75845" }, { "name": "C-5 sterol desaturase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75845" }, { "name": "Delta(7)-sterol 5-desaturase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75845" }, { "name": "Delta(7)-sterol C5(6)-desaturase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75845" }, { "name": "Lathosterol 5-desaturase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75845" }, { "name": "Sterol-C5-desaturase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75845" }, { "name": "lathosterol dehydrogenase; fungal ERG3, delta-5-desaturase-like; 3beta-hydroxysteroid-delta5-desaturase; lathosterol 5-desaturase; C-5 sterol desaturase; delta(7)-sterol 5-desaturase; sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like; delta(7)-sterol C5(6)-desaturase; delta(7)-sterol 5(6)-desaturase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020127", "id": "NP_001020127" }, { "name": "lathosterol oxidase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020127", "id": "NP_001020127" } ], "function": [ { "annotation": "Catalyzes a dehydrogenation to introduce C5-6 double bond into lathosterol in cholesterol biosynthesis.", "evidence": [ { "database": "UniProtKB", "id": "O75845", "url": "https://www.uniprot.org/uniprot/O75845#function" }, { "database": "PubMed", "id": "10786622", "url": "https://glygen.org/publication/PubMed/10786622" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001020127", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020127" }, { "database": "PubMed", "id": "18660489", "url": "https://glygen.org/publication/PubMed/18660489" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001020127", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020127" }, { "database": "PubMed", "id": "20634891", "url": "https://glygen.org/publication/PubMed/20634891" } ] }, { "annotation": "The EGR3 may not play a major role in schizophrenia susceptibility in the Chinese Han population.", "evidence": [ { "database": "RefSeq", "id": "NP_001020127", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020127" }, { "database": "PubMed", "id": "20144677", "url": "https://glygen.org/publication/PubMed/20144677" } ] }, { "annotation": "The relationship between C-peptide concentrations and D5D enzyme activity estimates remained significant after adjusting for body mass index, waist circumference, and TNF-alpha. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001020127", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020127" }, { "database": "PubMed", "id": "27023786", "url": "https://glygen.org/publication/PubMed/27023786" } ] }, { "annotation": "This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001020127", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020127" } ] } ], "disease": [ { "disease_id": "MONDO:0011816", "recommended_name": { "id": "MONDO:0011816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011816", "name": "lathosterolosis", "description": "Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease." }, "synonyms": [ { "id": "MONDO:0011816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011816", "name": "lathosterolosis", "description": "" }, { "id": "MONDO:0011816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011816", "name": "sterol C5-desaturase deficiency", "description": "" }, { "id": "MONDO:0011816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011816", "name": "Sc5D deficiency", "description": "" }, { "id": "MIM:607330", "resource": "MIM", "url": "https://www.omim.org/entry/607330", "name": "Lathosterolosis", "description": "Lathosterolosis" } ], "evidence": [ { "id": "607330", "database": "MIM", "url": "https://www.omim.org/entry/607330" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "90.47", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109929", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109929" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "92.9", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109929", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109929" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "86.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109929", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109929" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "73.61", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000109929", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109929" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "88.47", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109929", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109929" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "91.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109929", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109929" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "80.56", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000109929", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109929" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "93.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109929", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109929" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "85.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109929", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109929" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "83.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109929", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109929" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "96.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109929", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109929" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "93.68", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109929", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109929" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "86.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109929", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109929" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75845", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75845" } ], "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": "O75845", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75845" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75845", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75845" } ], "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": "O75845", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75845" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O75845", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75845" } ], "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 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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}, { "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 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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": "O75845", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75845" } ], "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/O75845" } ], "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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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 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Biol.", "date": "1999", "authors": "Husselstein T, Schaller H, Gachotte D, Benveniste P", "evidence": [ { "database": "UniProtKB", "id": "O75845", "url": "https://www.uniprot.org/uniprot/O75845" } ], "reference": [ { "type": "PubMed", "id": "10344195", "url": "https://glygen.org/publication/PubMed/10344195" } ] }, { "title": "Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com.", "journal": "Nature genetics", "date": "1999", "authors": "Derry JM, Gormally E, Means GD, Zhao W, Meindl A, Kelley RI, Boyd Y, Herman GE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807047", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807047" } ], "reference": [ { "type": "PubMed", "id": "10391218", "url": "https://glygen.org/publication/PubMed/10391218" } ] }, { "title": "Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hunermann syndrome.", "journal": "Nature genetics", "date": "1999", "authors": "Braverman N, Lin P, Moebius FF, Obie C, Moser A, Glossmann H, Wilcox WR, Rimoin DL, Smith M, Kratz L, Kelley RI, Valle D", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807047", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807047" } ], "reference": [ { "type": "PubMed", "id": "10391219", "url": "https://glygen.org/publication/PubMed/10391219" } ] }, { "title": "Identification of conserved cis-elements and transcription factors required for sterol-regulated transcription of stearoyl-CoA desaturase 1 and 2.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Tabor DE, Kim JB, Spiegelman BM, Edwards PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2426168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2426168" } ], "reference": [ { "type": "PubMed", "id": "10400691", "url": "https://glygen.org/publication/PubMed/10400691" } ] }, { "title": "Sterol regulation of human fatty acid synthase promoter I requires nuclear factor-Y- and Sp-1-binding sites.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Xiong S, Chirala SS, Wakil SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2426168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2426168" } ], "reference": [ { "type": "PubMed", "id": "10759542", "url": "https://glygen.org/publication/PubMed/10759542" } ] }, { "title": "cDNA cloning of the mammalian sterol C5-desaturase and the expression in yeast mutant.", "journal": "Biochimica et biophysica acta", "date": "2000-01-31", "authors": "Nishi S, Nishino H, Ishibashi T", "evidence": [ { "database": "UniProtKB", "id": "O75845", "url": "https://www.uniprot.org/uniprot/O75845" } ], "reference": [ { "type": "PubMed", "id": "10786622", "url": "https://glygen.org/publication/PubMed/10786622" } ] }, { "title": "Cloning and characterization of the human stearoyl-CoA desaturase gene promoter: transcriptional activation by sterol regulatory element binding protein and repression by polyunsaturated fatty acids and cholesterol.", "journal": "Biochemical and biophysical research communications", "date": "2001", "authors": "Bene H, Lasky D, Ntambi JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2426168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2426168" } ], "reference": [ { "type": "PubMed", "id": "11414710", "url": "https://glygen.org/publication/PubMed/11414710" } ] }, { "title": "Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.", "journal": "American journal of human genetics", "date": "2001", "authors": "Waterham HR, Koster J, Romeijn GJ, Hennekam RC, Vreken P, Andersson HC, FitzPatrick DR, Kelley RI, Wanders RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807047", "url": 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"type": "PubMed", "id": "27023786", "url": "https://glygen.org/publication/PubMed/27023786" } ] }, { "title": "Human fatty acid synthase: properties and molecular cloning.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1995", "authors": "Jayakumar A, Tai MH, Huang WY, al-Feel W, Hsu M, Abu-Elheiga L, Chirala SS, Wakil SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2426168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2426168" } ], "reference": [ { "type": "PubMed", "id": "7567999", "url": "https://glygen.org/publication/PubMed/7567999" } ] }, { "title": "Sterol regulation of fatty acid synthase promoter. Coordinate feedback regulation of two major lipid pathways.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Bennett MK, Lopez JM, Sanchez HB, Osborne TF", "evidence": [ { "database": "Reactome", "id": "R-HSA-2426168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2426168" } ], "reference": [ { "type": "PubMed", "id": "7592729", "url": "https://glygen.org/publication/PubMed/7592729" } ] }, { "title": "Human acetyl-CoA carboxylase: characterization, molecular cloning, and evidence for two isoforms.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1995", "authors": "Abu-Elheiga L, Jayakumar A, Baldini A, Chirala SS, Wakil SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2426168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2426168" } ], "reference": [ { "type": "PubMed", "id": "7732023", "url": "https://glygen.org/publication/PubMed/7732023" } ] }, { "title": "Partial characterization of a cDNA for human stearoyl-CoA desaturase and changes in its mRNA expression in some normal and malignant tissues.", "journal": "International journal of cancer", "date": "1994", "authors": "Li J, Ding SF, Habib NA, Fermor BF, Wood CB, Gilmour RS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2426168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2426168" } ], "reference": [ { "type": "PubMed", "id": "7909540", "url": "https://glygen.org/publication/PubMed/7909540" } ] }, { "title": "A human promyelocyte mRNA transiently induced by TPA is homologous to yeast IPP isomerase.", "journal": "Genomics", "date": "1994", "authors": "Xuan JW, Kowalski J, Chambers AF, Denhardt DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-2426168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2426168" } ], "reference": [ { "type": "PubMed", "id": "8020941", "url": "https://glygen.org/publication/PubMed/8020941" } ] }, { "title": "The ubiquitously expressed human CYP51 encodes lanosterol 14 alpha-demethylase, a cytochrome P450 whose expression is regulated by oxysterols.", "journal": "Archives of biochemistry and biophysics", "date": "1996", "authors": "Stromstedt M, Rozman D, Waterman MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-2426168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2426168" } ], "reference": [ { "type": "PubMed", "id": "8619637", "url": "https://glygen.org/publication/PubMed/8619637" } ] }, { "title": "Molecular cloning and expression of the cDNAs encoding human and yeast mevalonate pyrophosphate decarboxylase.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Toth MJ, Huwyler L", "evidence": [ { "database": "Reactome", "id": "R-HSA-2426168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2426168" } ], "reference": [ { "type": "PubMed", "id": "8626466", "url": "https://glygen.org/publication/PubMed/8626466" } ] }, { "title": "Transcriptional regulation of squalene epoxidase by sterols and inhibitors in HeLa cells.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Nakamura Y, Sakakibara J, Izumi T, Shibata A, Ono T", "evidence": [ { "database": "Reactome", "id": "R-HSA-2426168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2426168" } ], "reference": [ { "type": "PubMed", "id": "8626488", "url": "https://glygen.org/publication/PubMed/8626488" } ] }, { "title": "A direct role for sterol regulatory element binding protein in activation of 3-hydroxy-3-methylglutaryl coenzyme A reductase gene.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Vallett SM, Sanchez HB, Rosenfeld JM, Osborne TF", "evidence": [ { "database": "Reactome", "id": "R-HSA-2426168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2426168" } ], "reference": [ { "type": "PubMed", "id": "8647822", "url": "https://glygen.org/publication/PubMed/8647822" } ] }, { "title": "Molecular 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Cell Genet.", "date": "1996", "authors": "Matsushima M, Inazawa J, Takahashi E, Suzumori K, Nakamura Y", "evidence": [ { "database": "UniProtKB", "id": "O75845", "url": "https://www.uniprot.org/uniprot/O75845" }, { "database": "Reactome", "id": "R-HSA-2426168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2426168" } ], "reference": [ { "type": "PubMed", "id": "8976377", "url": "https://glygen.org/publication/PubMed/8976377" } ] }, { "title": "Human acetyl-CoA carboxylase 2. Molecular cloning, characterization, chromosomal mapping, and evidence for two isoforms.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Abu-Elheiga L, Almarza-Ortega DB, Baldini A, Wakil SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2426168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2426168" } ], "reference": [ { "type": "PubMed", "id": "9099716", "url": "https://glygen.org/publication/PubMed/9099716" } ] }, { "title": "Molecular cloning and expression of the human delta7-sterol reductase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Moebius FF, Fitzky BU, Lee JN, Paik YK, Glossmann H", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807047", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807047" } ], "reference": [ { "type": "PubMed", "id": "9465114", "url": "https://glygen.org/publication/PubMed/9465114" } ] }, { "title": "Multiple DNA elements for sterol regulatory element-binding protein and NF-Y are responsible for sterol-regulated transcription of the genes for human 3-hydroxy-3-methylglutaryl coenzyme A synthase and squalene synthase.", "journal": "Journal of biochemistry", "date": "1998", "authors": "Inoue J, Sato R, Maeda M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2426168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2426168" } ], "reference": [ { "type": "PubMed", "id": "9604010", "url": "https://glygen.org/publication/PubMed/9604010" } ] }, { "title": "Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.", "journal": "American journal of human genetics", "date": "1998", "authors": "Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, Steiner RD, Porter FD", "evidence": [ { "database": "Reactome", "id": "R-HSA-2426168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2426168" } ], "reference": [ { "type": 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by SREBF (SREBP)" }, { "id": "R-HSA-6807047", "name": "Cholesterol biosynthesis via desmosterol", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807047", "resource": "Reactome", "description": "Cholesterol biosynthesis via desmosterol" }, { "id": "R-HSA-6807062", "name": "Cholesterol biosynthesis via lathosterol", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807062", "resource": "Reactome", "description": "Cholesterol biosynthesis via lathosterol" } ], "orthologs": [ { "uniprot_canonical_ac": "O88822-1", "protein_name": "Lathosterol oxidase", "gene_name": "Sc5d", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MDLVLSAADYYFFTPYVYPATWPEDNIIRQTISLLIVTNLGAYILYFFCATLSYYFVYDHSLMKHPQFLKNQVSREIVFTVKSLPWISIPTVSLFLLELRGYSKLYDDIGDFPNGWIHLMVSVVSFLFFTDMLIYWIHRGLHHRLVYKRIHKPHHIWKIPTPFASHAFHPVDGFLQSLPYHIYPFVFPLHKVVYLGLYVLVNVWTISIHDGDFRVPQILRPFINGSAHHTDHHMFFDYNYGQYFTLWDRIGGSFKHPSSFEGKGPHSYVKNMTEKESNSFAENGCKGKKVGNGEFTKNK", "length": 299 }, "evidence": [ { 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}, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "O75845", "url": "https://www.uniprot.org/uniprot/O75845" } ], "pmid": "" }, { "name": "cholesterol biosynthetic process via desmosterol", "id": "GO:0033489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033489", "evidence": [ { "database": "UniProtKB", "id": "O75845", "url": "https://www.uniprot.org/uniprot/O75845" } ], "pmid": "" }, { "name": "cholesterol biosynthetic process via lathosterol", "id": "GO:0033490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033490", "evidence": [ { "database": "UniProtKB", "id": "O75845", "url": "https://www.uniprot.org/uniprot/O75845" } ], "pmid": "" }, { "name": "lipid biosynthetic process", "id": "GO:0008610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008610", "evidence": [ { "database": "UniProtKB", "id": "O75845", "url": "https://www.uniprot.org/uniprot/O75845" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O75845", "url": "https://www.uniprot.org/uniprot/O75845" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "O75845", "url": "https://www.uniprot.org/uniprot/O75845" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 224, "end_pos": 226, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "46556", "name": "", "equation": "2 Fe(II)-[cytochrome b5] + 2 H(+) + lathosterol + O2 = 7-dehydrocholesterol + 2 Fe(III)-[cytochrome b5] + 2 H2O", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9EQS5-1", "O75845-1", "O88822-1" ], "evidence": [ { "id": "46556", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/46556" } ] }, { "id": "54320", "name": "", "equation": "a Delta(7)-sterol + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = a Delta(5),Delta(7)-sterol + 2 Fe(III)-[cytochrome b5] + 2 H2O", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9EQS5-1", "O75845-1", "O88822-1" ], "evidence": [ { "id": "54320", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/54320" } ] }, { "id": "R-HSA-1655852", "name": "Expression of Lathosterol Oxidase (SC5D, SC5DL)", "equation": "", "summary": "The SC5D gene is transcribed to yield mRNA and the mRNA is translated to yield protein.", "cellular_location": "endoplasmic reticulum membrane, nucleoplasm", "input_participant_list": [ "R-HSA-2394001" ], "output_participant_list": [ "R-HSA-195662" ], "enzyme_list": [ "O75845-1" ], "evidence": [ { "id": "R-HSA-1655852", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1655852" } ] }, { "id": "R-HSA-195664", "name": "Cholesta-7,24-dien-3beta-ol is desaturated to form cholesta-5,7,24-trien-3beta-ol", "equation": "", "summary": "Cholesta-7,24-dien-3beta-ol, NADPH + H+, and O2 react to form cholesta-5,7,24-trien-3beta-ol, NADP+, and 2 H2O, catalyzed by SC5D. This reaction takes place in the endoplasmic reticulum. Its biochemical details are inferred from those of the reaction catalyzed by the purified rat protein (Kawata et al. 1985). The role of human SC5D in catalyzing this reaction in vivo is established from studies of patients in whom the enzyme is defective (Brunetti-Pierri et al. 2002; Krakowiak et al. 2003).", "cellular_location": "cytosol, endoplasmic reticulum membrane", "input_participant_list": [ "R-ALL-195691" ], "output_participant_list": [], "enzyme_list": [ "O75845-1" ], "evidence": [ { "id": "R-HSA-195664", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-195664" } ] }, { "id": "R-HSA-6807053", "name": "SC5D desaturates LTHSOL to 7-dehydroCHOL", "equation": "", "summary": "SC5D (lathosterol oxidase) associated with the endoplasmic reticulum desaturates LTHSOL (lathosterol) to 7-dehydroCHOL (7-dehydrocholesterol) (Brunetti-Pierri et al. 2002; Kandutsch & Russell 1960; Krakowiek et al. 2003; Mitsche et al. 2015).", "cellular_location": "cytosol, endoplasmic reticulum membrane", "input_participant_list": [ "R-ALL-6807054" ], "output_participant_list": [], "enzyme_list": [ "O75845-1" ], "evidence": [ { "id": "R-HSA-6807053", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807053" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-195691", "participant_name": "CHdOL [endoplasmic reticulum membrane]", "crossref": [ { "id": "16290", "database": "ChEBI", "url": "" }, { "id": "000004096609", "database": "ZINC", "url": "" }, { "id": "HMDB0006842", "database": "HMDB Metabolite", "url": "" }, { "id": "16290", "database": "ChEBI", "url": "" }, { "id": "000004096609", "database": "ZINC", "url": "" }, { "id": "HMDB0006842", "database": "HMDB Metabolite", "url": "" }, { "id": "16290", "database": "ChEBI", "url": "" }, { "id": "000004096609", "database": "ZINC", "url": "" }, { "id": "HMDB0006842", "database": "HMDB Metabolite", "url": "" }, { "id": "000004096609", "database": "ZINC", "url": "" }, { "id": "16290", "database": "ChEBI", "url": "" }, { "id": "HMDB0006842", "database": "HMDB Metabolite", "url": "" }, { "id": "16290", "database": "ChEBI", "url": "" }, { "id": "000004096609", "database": "ZINC", "url": "" }, { "id": "HMDB0006842", "database": "HMDB Metabolite", "url": "" }, { "id": "HMDB0006842", "database": "HMDB Metabolite", "url": "" }, { "id": "16290", "database": "ChEBI", "url": "" }, { "id": "000004096609", "database": "ZINC", "url": "" } ] }, { "participant_id": "R-ALL-6807054", "participant_name": "LTHSOL [endoplasmic reticulum membrane]", "crossref": [ { "id": "17168", "database": "ChEBI", "url": "" }, { "id": "C01189", "database": "COMPOUND", "url": "" }, { "id": "HMDB0001170", "database": "HMDB Metabolite", "url": "" }, { "id": "000004095573", "database": "ZINC", "url": "" }, { "id": "17168", "database": "ChEBI", "url": "" }, { "id": "C01189", "database": "COMPOUND", "url": "" }, { "id": "HMDB0001170", "database": "HMDB Metabolite", "url": "" }, { "id": "000004095573", "database": "ZINC", "url": "" }, { "id": "17168", "database": "ChEBI", "url": "" }, { "id": "C01189", "database": 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