{ "uniprot_canonical_ac": "O60240-1", "uniprot_ac": "O60240", "uniprot_id": "PLIN1_HUMAN", "mass": { "chemical_mass": 55990.0, "monoisotopic_mass": 55990.0 }, "refseq": { "ac": "NP_001138783", "name": "perilipin-1", "summary": "The protein encoded by this gene coats lipid storage droplets in adipocytes, thereby protecting them until they can be broken down by hormone-sensitive lipase. The encoded protein is the major cAMP-dependent protein kinase substrate in adipocytes and, when unphosphorylated, may play a role in the inhibition of lipolysis. Alternatively spliced transcript variants varying in the 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Feb 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138783" }, "gene_names": [ { "name": "PLIN1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60240", "id": "O60240" }, { "name": "FPLD4; PERI; PLIN", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138783", "id": "NP_001138783" }, { "name": "PERI", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60240", "id": "O60240" }, { "name": "PLIN1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138783", "id": "NP_001138783" }, { "name": "PLIN", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60240", "id": "O60240" } ], "protein_names": [ { "name": "Perilipin-1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60240" }, { "name": "Lipid droplet-associated protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60240" }, { "name": "lipid droplet-associated protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138783", "id": "NP_001138783" }, { "name": "perilipin-1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138783", "id": "NP_001138783" } ], "function": [ { "annotation": "Effect of an acute long-duration exercise bout on skeletal muscle lipid droplet morphology, GLUT 4 protein, and perilipin protein expression.", "evidence": [ { "database": "RefSeq", "id": "NP_001138783", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138783" }, { "database": "PubMed", "id": "37368137", "url": "https://glygen.org/publication/PubMed/37368137" } ] }, { "annotation": "Genetic Association between Different Metabolic Variants in APOA5 and PLIN1 in Type 2 Diabetes Mellitus among the Western Saudi Population: Case-Control Study. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001138783", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138783" }, { "database": "PubMed", "id": "35886029", "url": "https://glygen.org/publication/PubMed/35886029" } ] }, { "annotation": "Impact of blood perilipin A levels on obesity and metabolic health. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001138783", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138783" }, { "database": "PubMed", "id": "36503541", "url": "https://glygen.org/publication/PubMed/36503541" } ] }, { "annotation": "Modulator of adipocyte lipid metabolism. Coats lipid storage droplets to protect them from breakdown by hormone-sensitive lipase (HSL). Its absence may result in leanness. Plays a role in unilocular lipid droplet formation by activating CIDEC. Their interaction promotes lipid droplet enlargement and directional net neutral lipid transfer. May modulate lipolysis and triglyceride levels.", "evidence": [ { "database": "UniProtKB", "id": "O60240", "url": "https://www.uniprot.org/uniprot/O60240#function" }, { "database": "PubMed", "id": "23399566", "url": "https://glygen.org/publication/PubMed/23399566" } ] }, { "annotation": "Perilipin could be a factor behind impaired lipolysis in insulin-resistants sconditions.", "evidence": [ { "database": "RefSeq", "id": "NP_001138783", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138783" }, { "database": "PubMed", "id": "12802495", "url": "https://glygen.org/publication/PubMed/12802495" } ] }, { "annotation": "RS2289487 variation in PERILIPIN gene is a predictor of weight loss and protection against impaired glucose metabolism after a meal-replacement diet in postmenopausal obese females.", "evidence": [ { "database": "RefSeq", "id": "NP_001138783", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138783" }, { "database": "PubMed", "id": "37843309", "url": "https://glygen.org/publication/PubMed/37843309" } ] }, { "annotation": "Sex-Dependent Mediation of Leptin in the Association of Perilipin Polymorphisms with BMI and Plasma Lipid Levels in Children. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001138783", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138783" }, { "database": "PubMed", "id": "35893926", "url": "https://glygen.org/publication/PubMed/35893926" } ] }, { "annotation": "The protein encoded by this gene coats lipid storage droplets in adipocytes, thereby protecting them until they can be broken down by hormone-sensitive lipase. The encoded protein is the major cAMP-dependent protein kinase substrate in adipocytes and, when unphosphorylated, may play a role in the inhibition of lipolysis. Alternatively spliced transcript variants varying in the 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Feb 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001138783", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138783" } ] } ], "disease": [ { "disease_id": "DOID:0070205", "recommended_name": { "id": "DOID:0070205", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070205", "name": "familial partial lipodystrophy type 4", "description": "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous adipose tissue primarily from the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension that has_material_basis_in mutation in the PLIN1 gene on chromosome 15q26." }, "synonyms": [ { "id": "DOID:0070205", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070205", "name": "FPLD4", "description": "" }, { "id": "DOID:0070205", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070205", "name": "PLIN1-related FPLD", "description": "" }, { "id": "DOID:0070205", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070205", "name": "PLIN1-related familial partial lipodystrophy", "description": "" }, { "id": "DOID:0070205", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070205", "name": "familial partial lipodystrophy associated with PLIN1 mutations", "description": "" }, { "id": "MONDO:0013478", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013478", "name": "PLIN1-related familial partial lipodystrophy", "description": "" }, { "id": "MONDO:0013478", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013478", "name": "FPLD4", "description": "" }, { "id": "MONDO:0013478", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013478", "name": "PLIN1-related FPLD", "description": "" }, { "id": "MONDO:0013478", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013478", "name": "FPLD due to PLIN1 mutations", "description": "" }, { "id": "MONDO:0013478", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013478", "name": "familial partial lipodystrophy associated with PLIN1 mutations", "description": "" }, { "id": "MONDO:0013478", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013478", "name": "familial partial lipodystrophy type 4", "description": "" }, { "id": "MONDO:0013478", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013478", "name": "lipodystrophy, familial partial, associated with Plin1 mutations", "description": "" }, { "id": "MONDO:0013478", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013478", "name": "lipodystrophy, familial partial, type 4", "description": "" }, { "id": "MIM:613877", "resource": "MIM", "url": "https://www.omim.org/entry/613877", "name": "Lipodystrophy, familial partial, 4", "description": "Lipodystrophy, familial partial, 4" } ], "evidence": [ { "id": "613877", "database": "MIM", "url": "https://www.omim.org/entry/613877" } ] } ], "snv": [ { "evidence": [ { "id": "rs781720356", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781720356" }, { "id": "rs781720356", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781720356" }, { "id": "rs781720356", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781720356" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 131, "end_pos": 131, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSI->NST).", "chr_id": "15", "chr_pos": "89670186", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I131", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1332634411", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1332634411" }, { "id": "rs1332634411", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1332634411#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 135, "end_pos": 135, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IAS->NAS).", "chr_id": "15", "chr_pos": "89670174", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I135", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1221390053", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1221390053" }, { "id": "rs1221390053", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1221390053#frequency_tab" }, { "id": "rs1221390053", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1221390053" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 266, "end_pos": 266, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->A).", "chr_id": "15", "chr_pos": "89667769", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S266", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs986136594", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs986136594" }, { "id": "rs986136594", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs986136594" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 266, "end_pos": 266, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->L).", "chr_id": "15", "chr_pos": "89667768", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S266", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1199158100", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1199158100" }, { "id": "rs1199158100", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1199158100" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 297, "end_pos": 297, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DQT->NQT).", "chr_id": "15", "chr_pos": "89667676", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D297", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs148207845", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148207845" }, { "id": "rs148207845", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148207845" }, { "id": "rs148207845", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs148207845#frequency_tab" }, { "id": "rs148207845", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs148207845" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 366, "end_pos": 366, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HLT->NLT).", "chr_id": "15", "chr_pos": "89667049", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H366", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1371330359", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1371330359" }, { "id": "rs1371330359", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1371330359" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 520, "end_pos": 520, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KKS->NKS).", "chr_id": "15", "chr_pos": "89665592", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K520", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "65.28", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166819", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166819" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "59.03", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166819", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166819" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "68.18", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166819", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166819" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "71.92", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166819", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166819" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "95.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166819", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166819" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "66.86", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166819", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166819" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "75.11", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166819", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166819" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "68.08", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166819", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166819" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "68.69", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166819", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166819" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "63.81", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166819", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166819" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "80.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166819", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166819" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "68.84", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166819", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166819" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "90.96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166819", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166819" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O60240", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60240" } ], "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": "O60240", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60240" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O60240", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60240" } ], "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": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O60240", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60240" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O60240", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60240" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O60240", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60240" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O60240", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60240" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O60240", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60240" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O60240", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60240" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O60240", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60240" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O60240", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60240" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O60240", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60240" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60240", "url": "https://www.uniprot.org/uniprot/O60240" } ], "common_name": "Human" } ], "gene": [ { "name": "PLIN1", "url": "https://www.uniprot.org/uniprot/O60240", "locus": { "chromosome": "15", "start_pos": 89664367, "end_pos": 89679427, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000166819", "url": "https://www.ensembl.org/id/ENSG00000166819" } ] } } ], "crossref": [ { "id": "ENSG00000166819", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166819", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "CHEMBL1741164", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL1741164", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "PLIN1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLIN1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "5346", "url": "https://www.ncbi.nlm.nih.gov/gene/5346", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "9076", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9076", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O60240", "url": "https://www.ebi.ac.uk/intact/interactors/id:O60240*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR004279", "url": "https://www.ebi.ac.uk/interpro/entry/IPR004279", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR042998", "url": "https://www.ebi.ac.uk/interpro/entry/IPR042998", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:5346", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5346", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "170290", "url": "http://www.omim.org/entry/170290", "database": "MIM", "categories": [ "Other" ] }, { "id": "613877", "url": "http://www.omim.org/entry/613877", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O60240", "url": "https://www.nextprot.org/entry/NX_O60240", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O60240", "url": "https://oglcnac.org/atlas/detail/O60240", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O60240", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60240", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "LAMWSVE", "url": "https://omabrowser.org/oma/group/LAMWSVE/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3026676at2759", "url": "http://www.orthodb.org/?query=3026676at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR47138", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR47138", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR47138:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR47138:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF03036", "url": "http://pfam.xfam.org/family/PF03036", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O60240", "url": "https://pharos.nih.gov/targets/O60240", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O60240", "url": "http://purl.obolibrary.org/obo/PR_O60240", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-163560", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163560", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-381340", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381340", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9031528", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9031528", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001138783", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138783", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "H0YM16", "url": "https://www.uniprot.org/uniprot/H0YM16", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YM16-1", "url": "https://www.uniprot.org/uniprot/H0YM16-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60240", "url": "https://www.uniprot.org/uniprot/O60240", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60240-1", "url": "https://www.uniprot.org/uniprot/O60240-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAVNKGLTLLDGDLPEQENVLQRVLQLPVVSGTCECFQKTYTSTKEAHPLVASVCNAYEKGVQSASSLAAWSMEPVVRRLSTQFTAANELACRGLDHLEEKIPALQYPPEKIASELKDTISTRLRSARNSISVPIASTSDKVLGAALAGCELAWGVARDTAEFAANTRAGRLASGGADLALGSIEKVVEYLLPPDKEESAPAPGHQQAQKSPKAKPSLLSRVGALTNTLSRYTVQTMARALEQGHTVAMWIPGVVPLSSLAQWGASVAMQAVSRRRSEVRVPWLHSLAAAQEEDHEDQTDTEGEDTEEEEELETEENKFSEVAALPGPRGLLGGVAHTLQKTLQTTISAVTWAPAAVLGMAGRVLHLTPAPAVSSTKGRAMSLSDALKGVTDNVVDTVVHYVPLPRLSLMEPESEFRDIDNPPAEVERREAERRASGAPSAGPEPAPRLAQPRRSLRSAQSPGAPPGPGLEDEVATPAAPRPGFPAVPREKPKRRVSDSFFRPSVMEPILGRTHYSQLRKKS", "length": 522, "header": "sp|O60240-1|PLIN1_HUMAN Isoform 1 of Perilipin-1 OS=Homo sapiens OX=9606 GN=PLIN1 PE=1 SV=2 CANONICAL=O60240-1" }, "isoforms": [ { "isoform_ac": "H0YM16-1", "url": "", "sequence": { "sequence": "EEELETEENKFSEVAALPGPRGLLGGVAHTLQKTLQTTISALLAHSHISICIITAFTCIVTLLMLGNQNGDDI", "length": 73, "header": "tr|H0YM16-1|H0YM16_HUMAN Computationally mapped isoform of Perilipin 1 OS=Homo sapiens OX=9606 GN=PLIN1 PE=1 SV=1 CANONICAL=O60240-1" }, "locus": { "chromosome": "15", "start_pos": 89667640, "end_pos": 89664846, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000560330.1", "url": "https://www.ensembl.org/id/ENST00000560330.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000453426.1", "url": "https://www.ensembl.org/id/ENSP00000453426.1" } ] } }, { "isoform_ac": "O60240-1", "url": "", "sequence": { "sequence": "MAVNKGLTLLDGDLPEQENVLQRVLQLPVVSGTCECFQKTYTSTKEAHPLVASVCNAYEKGVQSASSLAAWSMEPVVRRLSTQFTAANELACRGLDHLEEKIPALQYPPEKIASELKDTISTRLRSARNSISVPIASTSDKVLGAALAGCELAWGVARDTAEFAANTRAGRLASGGADLALGSIEKVVEYLLPPDKEESAPAPGHQQAQKSPKAKPSLLSRVGALTNTLSRYTVQTMARALEQGHTVAMWIPGVVPLSSLAQWGASVAMQAVSRRRSEVRVPWLHSLAAAQEEDHEDQTDTEGEDTEEEEELETEENKFSEVAALPGPRGLLGGVAHTLQKTLQTTISAVTWAPAAVLGMAGRVLHLTPAPAVSSTKGRAMSLSDALKGVTDNVVDTVVHYVPLPRLSLMEPESEFRDIDNPPAEVERREAERRASGAPSAGPEPAPRLAQPRRSLRSAQSPGAPPGPGLEDEVATPAAPRPGFPAVPREKPKRRVSDSFFRPSVMEPILGRTHYSQLRKKS", "length": 522, "header": "sp|O60240-1|PLIN1_HUMAN Isoform 1 of Perilipin-1 OS=Homo sapiens OX=9606 GN=PLIN1 PE=1 SV=2 CANONICAL=O60240-1" }, "locus": { "chromosome": "15", "start_pos": 89677489, "end_pos": 89665586, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000300055.10", "url": "https://www.ensembl.org/id/ENST00000300055.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000300055.5", "url": "https://www.ensembl.org/id/ENSP00000300055.5" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 266, "start_aa": "Ser", "end_pos": 266, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser266", "evidence": [ { "id": "O60240", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60240" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "O60240", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O60240" } ] } ], "phosphorylation": [ { "start_pos": 126, "end_pos": 126, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60240", "url": "https://www.uniprot.org/uniprot/O60240" } ], "site_lbl": "Ser126" }, { "start_pos": 130, "end_pos": 130, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60240", "url": "https://www.uniprot.org/uniprot/O60240" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O60240", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60240" } ], "site_lbl": "Ser130" }, { "start_pos": 132, "end_pos": 132, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60240", "url": "https://www.uniprot.org/uniprot/O60240" } ], "site_lbl": "Ser132" }, { "start_pos": 137, "end_pos": 137, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60240", "url": "https://www.uniprot.org/uniprot/O60240" } ], "site_lbl": "Ser137" }, { "start_pos": 174, "end_pos": 174, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60240", "url": "https://www.uniprot.org/uniprot/O60240" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O60240", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60240" } ], "site_lbl": "Ser174" }, { "start_pos": 277, "end_pos": 277, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "PRO", "id": "O60240", "url": "http://purl.obolibrary.org/obo/O60240" }, { "database": "iPTMnet", "id": "O60240", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60240" } ], "site_lbl": "Ser277" }, { "start_pos": 299, "end_pos": 299, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O60240", "url": "https://www.uniprot.org/uniprot/O60240" } ], "site_lbl": "Thr299" }, { "start_pos": 301, "end_pos": 301, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O60240", "url": "https://www.uniprot.org/uniprot/O60240" } ], "site_lbl": "Thr301" }, { "start_pos": 382, "end_pos": 382, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60240", "url": "https://www.uniprot.org/uniprot/O60240" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O60240", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60240" } ], "site_lbl": "Ser382" }, { "start_pos": 384, "end_pos": 384, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60240", "url": "https://www.uniprot.org/uniprot/O60240" } ], "site_lbl": "Ser384" }, { "start_pos": 408, "end_pos": 408, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60240", "url": "https://www.uniprot.org/uniprot/O60240" } ], "site_lbl": "Ser408" }, { "start_pos": 436, "end_pos": 436, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60240", "url": "https://www.uniprot.org/uniprot/O60240" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O60240", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60240" } ], "site_lbl": "Ser436" }, { "start_pos": 497, "end_pos": 497, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60240", "url": "https://www.uniprot.org/uniprot/O60240" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O60240", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60240" }, { "database": "PubMed", "id": "29688805", "url": "https://glygen.org/publication/PubMed/29688805" } ], "site_lbl": "Ser497" }, { "start_pos": 499, "end_pos": 499, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60240", "url": "https://www.uniprot.org/uniprot/O60240" } ], "site_lbl": "Ser499" }, { "start_pos": 522, "end_pos": 522, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60240", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60240" }, { "database": "PubMed", "id": "29688805", "url": "https://glygen.org/publication/PubMed/29688805" }, { "database": "PubMed", "id": "30811273", "url": "https://glygen.org/publication/PubMed/30811273" } ], "site_lbl": "Ser522" }, { "start_pos": 81, "end_pos": 81, "kinase_uniprot_canonical_ac": "P17612-1", "kinase_gene_name": "PRKACA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60240", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60240" }, { "database": "PubMed", "id": "11751901", "url": "https://glygen.org/publication/PubMed/11751901" } ], "site_lbl": "Ser81" }, { "start_pos": 81, "end_pos": 81, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60240", "url": "https://www.uniprot.org/uniprot/O60240" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PRO", "id": "O60240", "url": "http://purl.obolibrary.org/obo/O60240" }, { "database": "iPTMnet", "id": "O60240", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60240" } ], "site_lbl": "Ser81" }, { "start_pos": 85, "end_pos": 85, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O60240", "url": "https://www.uniprot.org/uniprot/O60240" } ], "site_lbl": "Thr85" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "p300 interacts with the N- and C-terminal part of PPARgamma2 in a ligand-independent and -dependent manner, respectively.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Gelman L, Zhou G, Fajas L, Raspe E, Fruchart JC, Auwerx J", "evidence": [ { "database": "Reactome", "id": "R-HSA-381340", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381340" } ], "reference": [ { "type": "PubMed", "id": "10075656", "url": "https://glygen.org/publication/PubMed/10075656" } ] }, { "title": "PPARgamma activation induces the expression of the adipocyte fatty acid binding protein gene in human monocytes.", "journal": "Biochemical and biophysical research communications", "date": "1999", "authors": "Pelton PD, Zhou L, Demarest KT, Burris TP", "evidence": [ { "database": "Reactome", "id": "R-HSA-381340", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381340" } ], "reference": [ { "type": "PubMed", "id": "10425206", "url": "https://glygen.org/publication/PubMed/10425206" } ] }, { "title": "Activation of human peroxisome proliferator-activated receptor (PPAR) subtypes by pioglitazone.", "journal": "Biochemical and biophysical research communications", "date": "2000", "authors": "Sakamoto J, Kimura H, Moriyama S, Odaka H, Momose Y, Sugiyama Y, Sawada H", "evidence": [ { "database": "Reactome", "id": "R-HSA-381340", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381340" } ], "reference": [ { "type": "PubMed", "id": "11095972", "url": "https://glygen.org/publication/PubMed/11095972" } ] }, { "title": "Modulation of hormone-sensitive lipase and protein kinase A-mediated lipolysis by perilipin A in an adenoviral reconstituted system.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Souza SC, Muliro KV, Liscum L, Lien P, Yamamoto MT, Schaffer JE, Dallal GE, Wang X, Kraemer FB, Obin M, Greenberg AS", "evidence": [ { "database": "iPTMnet", "id": "O60240", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60240" } ], "reference": [ { "type": "PubMed", "id": "11751901", "url": "https://glygen.org/publication/PubMed/11751901" } ] }, { "title": "Regional differences in the response of human pre-adipocytes to PPARgamma and RXRalpha agonists.", "journal": "Diabetes", "date": "2002", "authors": "Sewter CP, Blows F, Vidal-Puig A, O'Rahilly S", "evidence": [ { "database": "Reactome", "id": "R-HSA-381340", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381340" } ], "reference": [ { "type": "PubMed", "id": "11872672", "url": "https://glygen.org/publication/PubMed/11872672" } ] }, { "title": "Leptin gene expression in human preadipocytes is switched on by maturation-induced demethylation of distinct CpGs in its proximal promoter.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Melzner I, Scott V, Dorsch K, Fischer P, Wabitsch M, Bruderlein S, Hasel C, Moller P", "evidence": [ { "database": "Reactome", "id": "R-HSA-381340", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381340" } ], "reference": [ { "type": "PubMed", "id": "12213831", "url": "https://glygen.org/publication/PubMed/12213831" } ] }, { "title": "Evidence for an important role of perilipin in the regulation of human adipocyte lipolysis.", "journal": "Diabetologia", "date": "2003", "authors": "Mottagui-Tabar S, Ryden M, Lofgren P, Faulds G, Hoffstedt J, Brookes AJ, Andersson I, Arner P", "evidence": [ { "database": "RefSeq", "id": "NP_001138783", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138783" } ], "reference": [ { "type": "PubMed", "id": "12802495", "url": "https://glygen.org/publication/PubMed/12802495" } ] }, { "title": "Induction of adiponectin, a fat-derived antidiabetic and antiatherogenic factor, by nuclear receptors.", "journal": "Diabetes", "date": "2003", "authors": "Iwaki M, Matsuda M, Maeda N, Funahashi T, Matsuzawa Y, Makishima M, Shimomura I", "evidence": [ { "database": "Reactome", "id": "R-HSA-381340", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381340" } ], "reference": [ { "type": "PubMed", "id": "12829629", "url": "https://glygen.org/publication/PubMed/12829629" } ] }, { "title": "Human adipocyte fatty acid-binding protein (aP2) gene promoter-driven reporter assay discriminates nonlipogenic peroxisome proliferator-activated receptor gamma ligands.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "2004", "authors": "Rival Y, Stennevin A, Puech L, Rouquette A, Cathala C, Lestienne F, Dupont-Passelaigue E, Patoiseau JF, Wurch T, Junquero D", "evidence": [ { "database": "Reactome", "id": "R-HSA-381340", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381340" } ], "reference": [ { "type": "PubMed", "id": "15273253", "url": "https://glygen.org/publication/PubMed/15273253" } ] }, { "title": "Identification, cloning, expression, and purification of three novel human calcium-independent phospholipase A2 family members possessing triacylglycerol lipase and acylglycerol transacylase activities.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Jenkins CM, Mancuso DJ, Yan W, Sims HF, Gibson B, Gross RW", "evidence": [ { "database": "Reactome", "id": "R-HSA-163560", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163560" } ], "reference": [ { "type": "PubMed", "id": "15364929", "url": "https://glygen.org/publication/PubMed/15364929" } ] }, { "title": "Physical association between the adipocyte fatty acid-binding protein and hormone-sensitive lipase: a fluorescence resonance energy transfer analysis.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Smith AJ, Sanders MA, Thompson BR, Londos C, Kraemer FB, Bernlohr DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-163560", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163560" } ], "reference": [ { "type": "PubMed", "id": "15456755", "url": "https://glygen.org/publication/PubMed/15456755" } ] }, { "title": "Identification of the promoter region required for human adiponectin gene transcription: Association with CCAAT/enhancer binding protein-beta and tumor necrosis factor-alpha.", "journal": "Biochemical and biophysical research communications", "date": "2005", "authors": "Kita A, Yamasaki H, Kuwahara H, Moriuchi A, Fukushima K, Kobayashi M, Fukushima T, Takahashi R, Abiru N, Uotani S, Kawasaki E, Eguchi K", "evidence": [ { "database": "Reactome", "id": "R-HSA-381340", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381340" } ], "reference": [ { "type": "PubMed", "id": "15850785", "url": "https://glygen.org/publication/PubMed/15850785" } ] }, { "title": "C/EBPalpha regulates human adiponectin gene transcription through an intronic enhancer.", "journal": "Diabetes", "date": "2005", "authors": "Qiao L, Maclean PS, Schaack J, Orlicky DJ, Darimont C, Pagliassotti M, Friedman JE, Shao J", "evidence": [ { "database": "Reactome", "id": "R-HSA-381340", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381340" } ], "reference": [ { "type": "PubMed", "id": "15919796", "url": "https://glygen.org/publication/PubMed/15919796" } ] }, { "title": "Identification of novel PPARgamma target genes in primary human adipocytes.", "journal": "Gene", "date": "2006", "authors": "Perera RJ, Marcusson EG, Koo S, Kang X, Kim Y, White N, Dean NM", "evidence": [ { "database": "Reactome", "id": "R-HSA-381340", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381340" } ], "reference": [ { "type": "PubMed", "id": "16380219", "url": "https://glygen.org/publication/PubMed/16380219" } ] }, { "title": "Molecular screening for GS2 lipase regulators: inhibition of keratinocyte retinylester hydrolysis by TIP47.", "journal": "The Journal of investigative dermatology", "date": "2006", "authors": "Gao JG, Simon M", "evidence": [ { "database": "Reactome", "id": "R-HSA-163560", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163560" } ], "reference": [ { "type": "PubMed", "id": "16741517", "url": "https://glygen.org/publication/PubMed/16741517" } ] }, { "title": "Transcriptional control of adipocyte formation.", "journal": "Cell metabolism", "date": "2006", "authors": "Farmer SR", "evidence": [ { "database": "Reactome", "id": "R-HSA-381340", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381340" } ], "reference": [ { "type": "PubMed", "id": "17011499", "url": "https://glygen.org/publication/PubMed/17011499" } ] }, { "title": "A comparative study of human GS2, its paralogues, and its rat orthologue.", "journal": "Biochemical and biophysical research communications", "date": "2007", "authors": "Gao JG, Simon M", "evidence": [ { "database": "Reactome", "id": "R-HSA-163560", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163560" } ], "reference": [ { "type": "PubMed", "id": "17603008", "url": "https://glygen.org/publication/PubMed/17603008" } ] }, { "title": "Effect of heterodimer partner RXRalpha on PPARgamma activation function-2 helix in solution.", "journal": "Biochemical and biophysical research communications", "date": "2008", "authors": "Lu J, Chen M, Stanley SE, Li E", "evidence": [ { "database": "Reactome", "id": "R-HSA-381340", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381340" } ], "reference": [ { "type": "PubMed", "id": "17980149", "url": "https://glygen.org/publication/PubMed/17980149" } ] }, { "title": "Identification of a novel distal enhancer in human adiponectin gene.", "journal": "The Journal of endocrinology", "date": "2009", "authors": "Segawa K, Matsuda M, Fukuhara A, Morita K, Okuno Y, Komuro R, Shimomura I", "evidence": [ { "database": "Reactome", "id": "R-HSA-381340", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381340" } ], "reference": [ { "type": "PubMed", "id": "18931025", "url": "https://glygen.org/publication/PubMed/18931025" } ] }, { "title": "Structure of the intact PPAR-gamma-RXR- nuclear receptor complex on DNA.", "journal": "Nature", "date": "2008", "authors": "Chandra V, Huang P, Hamuro Y, Raghuram S, Wang Y, Burris TP, Rastinejad F", "evidence": [ { "database": "Reactome", "id": "R-HSA-381340", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381340" } ], "reference": [ { "type": "PubMed", "id": "19043829", "url": "https://glygen.org/publication/PubMed/19043829" } ] }, { "title": "A-FABP, a candidate progression marker of human transitional cell carcinoma of the bladder, is differentially regulated by PPAR in urothelial cancer cells.", "journal": "International journal of cancer", "date": "2009", "authors": "Boiteux G, Lascombe I, Roche E, Plissonnier ML, Clairotte A, Bittard H, Fauconnet S", "evidence": [ { "database": "Reactome", "id": "R-HSA-381340", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381340" } ], "reference": [ { "type": "PubMed", "id": "19115207", "url": "https://glygen.org/publication/PubMed/19115207" } ] }, { "title": "Structural basis for the activation of PPARgamma by oxidized fatty acids.", "journal": "Nature structural & molecular biology", "date": "2008", "authors": "Itoh T, Fairall L, Amin K, Inaba Y, Szanto A, Balint BL, Nagy L, Yamamoto K, Schwabe JW", "evidence": [ { "database": "Reactome", "id": "R-HSA-381340", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381340" } ], "reference": [ { "type": "PubMed", "id": "19172745", "url": "https://glygen.org/publication/PubMed/19172745" } ] }, { "title": "GS2 as a retinol transacylase and as a catalytic dyad independent regulator of retinylester accretion.", "journal": "Molecular genetics and metabolism", "date": "2009", "authors": "Gao JG, Shih A, Gruber R, Schmuth M, Simon M", "evidence": [ { "database": "Reactome", "id": "R-HSA-163560", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163560" } ], "reference": [ { "type": "PubMed", "id": "19181555", "url": "https://glygen.org/publication/PubMed/19181555" } ] }, { "title": "Human fetal mesenchymal stem cells differentiate into brown and white adipocytes: a role for ERRalpha in human UCP1 expression.", "journal": "Cell research", "date": "2010", "authors": "Morganstein DL, Wu P, Mane MR, Fisk NM, White R, Parker MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-381340", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381340" } ], "reference": [ { "type": "PubMed", "id": "20101261", "url": "https://glygen.org/publication/PubMed/20101261" } ] }, { "title": "Liver X receptor (LXR) regulates human adipocyte lipolysis.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Stenson BM, Ryden M, Venteclef N, Dahlman I, Pettersson AM, Mairal A, Astrom G, Blomqvist L, Wang V, Jocken JW, Clement K, Langin D, Arner P, Laurencikiene J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9031528", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9031528" } ], "reference": [ { "type": "PubMed", "id": "21030586", "url": "https://glygen.org/publication/PubMed/21030586" } ] }, { "title": "Perilipin deficiency and autosomal dominant partial lipodystrophy.", "journal": "N. Engl. J. Med.", "date": "2011", "authors": "Gandotra Sheetal, Le Dour Caroline, Bottomley William, Cervera Pascale, Giral Philippe, Reznik Yves, Charpentier Guillaume, Auclair Martine, Del\u00e9pine Marc, Barroso In\u00eas, Semple Robert K, Lathrop Mark, Lascols Olivier, Capeau Jacqueline, O'Rahilly Stephen, Magr\u00e9 Jocelyne, Savage David B, Vigouroux Corinne", "evidence": [ { "database": "UniProtKB", "id": "O60240", "url": "https://www.uniprot.org/uniprot/O60240" } ], "reference": [ { "type": "PubMed", "id": "21345103", "url": "https://glygen.org/publication/PubMed/21345103" } ] }, { "title": "The human fatty acid-binding protein family: evolutionary divergences and functions.", "journal": "Human genomics", "date": "2011", "authors": "Smathers RL, Petersen DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-163560", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163560" } ], "reference": [ { "type": "PubMed", "id": "21504868", "url": "https://glygen.org/publication/PubMed/21504868" } ] }, { "title": "A Novel pro-adipogenesis factor abundant in adipose tissues and over-expressed in obesity acts upstream of PPARgamma and C/EBPalpha.", "journal": "Journal of bioenergetics and biomembranes", "date": "2013", "authors": "Ni Y, Ji C, Wang B, Qiu J, Wang J, Guo X", "evidence": [ { "database": "Reactome", "id": "R-HSA-381340", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381340" } ], "reference": [ { "type": "PubMed", "id": "23239344", "url": "https://glygen.org/publication/PubMed/23239344" } ] }, { "title": "FSP27 and PLIN1 interaction promotes the formation of large lipid droplets in human adipocytes.", "journal": "Biochemical and biophysical research communications", "date": "2013-03-08", "authors": "Grahn Tan Hooi Min, Zhang Yan, Lee Mi-Jeong, Sommer Andreia Gianotti, Mostoslavsky Gustavo, Fried Susan K, Greenberg Andrew S, Puri Vishwajeet", "evidence": [ { "database": "UniProtKB", "id": "O60240", "url": "https://www.uniprot.org/uniprot/O60240" } ], "reference": [ { "type": "PubMed", "id": "23399566", "url": "https://glygen.org/publication/PubMed/23399566" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O60240", "url": "https://www.uniprot.org/uniprot/O60240" }, { "database": "iPTMnet", "id": "O60240", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60240" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Perilipin-related protein regulates lipid metabolism in C. elegans.", "journal": "PeerJ", "date": "2015", "authors": "Chughtai Ahmed Ali, Ka\u0161\u0161\u00e1k Filip, Kostrouchov\u00e1 Mark\u00e9ta, Novotn\u00fd Jan Philipp, Krause Michael W, Saudek Vladim\u00edr, Kostrouch Zdenek, Kostrouchov\u00e1 Marta", "evidence": [ { "database": "UniProtKB", "id": "O60240", "url": "https://www.uniprot.org/uniprot/O60240" } ], "reference": [ { "type": "PubMed", "id": "26357594", "url": "https://glygen.org/publication/PubMed/26357594" } ] }, { "title": "Perilipin 1 binds to aquaporin 7 in human adipocytes and controls its mobility via protein kinase A mediated phosphorylation.", "journal": "Metabolism", "date": "2016", "authors": "Hansen JS, Krintel C, Hernebring M, Haataja TJ, de Mare S, Wasserstrom S, Kosinska-Eriksson U, Palmgren M, Holm C, Stenkula KG, Jones HA, Lindkvist-Petersson K", "evidence": [ { "database": "UniProtKB", "id": "O60240", "url": "https://www.uniprot.org/uniprot/O60240" } ], "reference": [ { "type": "PubMed", "id": "27832861", "url": "https://glygen.org/publication/PubMed/27832861" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60240", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60240" }, { "database": "O-GlcNAc Atlas", "id": "O60240", "url": "https://oglcnac.org/atlas/detail/O60240" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "OPA1-anchored PKA phosphorylates perilipin 1 on S522 and S497 in adipocytes differentiated from human adipose stem cells.", "journal": "Molecular biology of the cell", "date": "2018", "authors": "Rogne M, Chu DT, Kuntziger TM, Mylonakou MN, Collas P, Tasken K", "evidence": [ { "database": "iPTMnet", "id": "O60240", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60240" } ], "reference": [ { "type": "PubMed", "id": "29688805", "url": "https://glygen.org/publication/PubMed/29688805" } ] }, { "title": "EHD2 regulates adipocyte function and is enriched at cell surface-associated lipid droplets in primary human adipocytes.", "journal": "Molecular biology of the cell", "date": "2019", "authors": "Moren B, Hansson B, Negoita F, Fryklund C, Lundmark R, Goransson O, Stenkula KG", "evidence": [ { "database": "iPTMnet", "id": "O60240", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60240" } ], "reference": [ { "type": "PubMed", "id": "30811273", "url": "https://glygen.org/publication/PubMed/30811273" } ] }, { "title": "Genetic Association between Different Metabolic Variants in APOA5 and PLIN1 in Type 2 Diabetes Mellitus among the Western Saudi Population: Case-Control Study.", "journal": "Genes", "date": "2022", "authors": "Bakhashab S, Alsulami T, Gusti AMT, Harakeh S, Al-Raddadi R, Alwazani WA, Alshaibi HF", "evidence": [ { "database": "RefSeq", "id": "NP_001138783", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138783" } ], "reference": [ { "type": "PubMed", "id": "35886029", "url": "https://glygen.org/publication/PubMed/35886029" } ] }, { "title": "Sex-Dependent Mediation of Leptin in the Association of Perilipin Polymorphisms with BMI and Plasma Lipid Levels in Children.", "journal": "Nutrients", "date": "2022", "authors": "Vales-Villamarin C, Lumpuy-Castillo J, Gavela-Perez T, de Dios O, Perez-Nadador I, Soriano-Guillen L, Garces C", "evidence": [ { "database": "RefSeq", "id": "NP_001138783", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138783" } ], "reference": [ { "type": "PubMed", "id": "35893926", "url": "https://glygen.org/publication/PubMed/35893926" } ] }, { "title": "Impact of blood perilipin A levels on obesity and metabolic health.", "journal": "BMC research notes", "date": "2022-12-12", "authors": "Ofori Emmanuel K, Letsu Bright Selorm, Amponsah Seth K, Ahenkorah John, Crabbe Sandra, Kwao-Zigah Genevieve, Oppong Sylvester Y, Diaba-Nuhoho Patrick, Amanquah Seth D", "evidence": [ { "database": "RefSeq", "id": "NP_001138783", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138783" } ], "reference": [ { "type": "PubMed", "id": "36503541", "url": "https://glygen.org/publication/PubMed/36503541" } ] }, { "title": "Effect of an acute long-duration exercise bout on skeletal muscle lipid droplet morphology, GLUT 4 protein, and perilipin protein expression.", "journal": "European journal of applied physiology", "date": "2023-12", "authors": "Bajpeyi Sudip, Apaflo Jehu N, Rosas Victoria, Sepulveda-Rivera Keisha, Varela-Ramirez Armando, Covington Jeffrey D, Galgani Jose E, Ravussin Eric", "evidence": [ { "database": "RefSeq", "id": "NP_001138783", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138783" } ], "reference": [ { "type": "PubMed", "id": "37368137", "url": "https://glygen.org/publication/PubMed/37368137" } ] }, { "title": "RS2289487 variation in PERILIPIN gene is a predictor of weight loss and protection against impaired glucose metabolism after a meal-replacement diet in postmenopausal obese females.", "journal": "European review for medical and pharmacological sciences", "date": "2023-10", "authors": "de Luis D, Izaola O, Primo D, Aller R", "evidence": [ { "database": "RefSeq", "id": "NP_001138783", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138783" } ], "reference": [ { "type": "PubMed", "id": "37843309", "url": "https://glygen.org/publication/PubMed/37843309" } ] }, { "title": "Insulin-responsive human adipocytes express two glucose transporter isoforms and target them to different vesicles.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1993", "authors": "Pilch PF, Wilkinson W, Garvey WT, Ciaraldi TP, Hueckstaedt TP, Olefsky JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-381340", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381340" } ], "reference": [ { "type": "PubMed", "id": "8325954", "url": "https://glygen.org/publication/PubMed/8325954" } ] }, { "title": "The adipocyte specific transcription factor C/EBPalpha modulates human ob gene expression.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "Miller SG, De Vos P, Guerre-Millo M, Wong K, Hermann T, Staels B, Briggs MR, Auwerx J", "evidence": [ { "database": "Reactome", "id": "R-HSA-381340", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381340" } ], "reference": [ { "type": "PubMed", "id": "8643605", "url": "https://glygen.org/publication/PubMed/8643605" } ] }, { "title": "A human peroxisome-proliferator-activated receptor-gamma is activated by inducers of adipogenesis, including thiazolidinedione drugs.", "journal": "European journal of biochemistry", "date": "1996", "authors": "Lambe KG, Tugwood JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-381340", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381340" } ], "reference": [ { "type": "PubMed", "id": "8706692", "url": "https://glygen.org/publication/PubMed/8706692" } ] }, { "title": "Thiazolidinediones repress ob gene expression in rodents via activation of peroxisome proliferator-activated receptor gamma.", "journal": "The Journal of clinical investigation", "date": "1996", "authors": "De Vos P, Lefebvre AM, Miller SG, Guerre-Millo M, Wong K, Saladin R, Hamann LG, Staels B, Briggs MR, Auwerx J", "evidence": [ { "database": "Reactome", "id": "R-HSA-381340", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381340" } ], "reference": [ { "type": "PubMed", "id": "8770873", "url": "https://glygen.org/publication/PubMed/8770873" } ] }, { "title": "Peroxisome proliferator-activated receptors: a nuclear receptor signaling pathway in lipid physiology.", "journal": "Annual review of cell and developmental biology", "date": "1996", "authors": "Lemberger T, Desvergne B, Wahli W", "evidence": [ { "database": "Reactome", "id": "R-HSA-381340", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381340" } ], "reference": [ { "type": "PubMed", "id": "8970730", "url": "https://glygen.org/publication/PubMed/8970730" } ] }, { "title": "Identification, characterization, and tissue distribution of human peroxisome proliferator-activated receptor (PPAR) isoforms PPARgamma2 versus PPARgamma1 and activation with retinoid X receptor agonists and antagonists.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Mukherjee R, Jow L, Croston GE, Paterniti JR Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-381340", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381340" } ], "reference": [ { "type": "PubMed", "id": "9065481", "url": "https://glygen.org/publication/PubMed/9065481" } ] }, { "title": "Identification of high-affinity binding sites for the insulin sensitizer rosiglitazone (BRL-49653) in rodent and human adipocytes using a radioiodinated ligand for peroxisomal proliferator-activated receptor gamma.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "1998", "authors": "Young PW, Buckle DR, Cantello BC, Chapman H, Clapham JC, Coyle PJ, Haigh D, Hindley RM, Holder JC, Kallender H, Latter AJ, Lawrie KW, Mossakowska D, Murphy GJ, Roxbee Cox L, Smith SA", "evidence": [ { "database": "Reactome", "id": "R-HSA-381340", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381340" } ], "reference": [ { "type": "PubMed", "id": "9454824", "url": "https://glygen.org/publication/PubMed/9454824" } ] }, { "title": "Isolation and chromosomal mapping of the human homolog of perilipin (PLIN), a rat adipose tissue-specific gene, by differential display method.", "journal": "Genomics", "date": "1998", "authors": "Nishiu J, Tanaka T, Nakamura Y", "evidence": [ { "database": "UniProtKB", "id": "O60240", "url": "https://www.uniprot.org/uniprot/O60240" } ], "reference": [ { "type": "PubMed", "id": "9521880", "url": "https://glygen.org/publication/PubMed/9521880" } ] }, { "title": "N-(2-Benzoylphenyl)-L-tyrosine PPARgamma agonists. 1. Discovery of a novel series of potent antihyperglycemic and antihyperlipidemic agents.", "journal": "Journal of medicinal chemistry", "date": "1998", "authors": "Henke BR, Blanchard SG, Brackeen MF, Brown KK, Cobb JE, Collins JL, Harrington WW Jr, Hashim MA, Hull-Ryde EA, Kaldor I, Kliewer SA, Lake DH, Leesnitzer LM, Lehmann JM, Lenhard JM, Orband-Miller LA, Miller JF, Mook RA Jr, Noble SA, Oliver W Jr, Parks DJ, Plunket KD, Szewczyk JR, Willson TM", "evidence": [ { "database": "Reactome", "id": "R-HSA-381340", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381340" } ], "reference": [ { "type": "PubMed", "id": "9836620", "url": "https://glygen.org/publication/PubMed/9836620" } ] } ], "pathway": [ { "id": "hsa:5346", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5346", "resource": "KEGG Pathway" }, { "id": "R-HSA-163560", "name": "Triglyceride catabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163560", "resource": "Reactome", "description": "Triglyceride catabolism" }, { "id": "R-HSA-381340", "name": "Transcriptional regulation of white adipocyte differentiation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381340", "resource": "Reactome", "description": "Transcriptional regulation of white adipocyte differentiation" }, { "id": "R-HSA-9031528", "name": "NR1H2 & NR1H3 regulate gene expression linked to triglyceride lipolysis in adipose", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9031528", "resource": "Reactome", "description": "NR1H2 & NR1H3 regulate gene expression linked to triglyceride lipolysis in adipose" } ], "orthologs": [ { "uniprot_canonical_ac": "P43884-1", "protein_name": "Perilipin-1", "gene_name": "Plin1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSMNKGPTLLDGDLPEQENVLQRVLQLPVVSGTCECFQKTYNSTKEAHPLVASVCNAYEKGVQGASNLAAWSMEPVVRRLSTQFTAANELACRGLDHLEEKIPALQYPPEKIASELKGTISTRLRSARNSISVPIASTSDKVLGATLAGCELALGMAKETAEYAANTRVGRLASGGADLALGSIEKVVEYLLPPDKVESAPSSGRQKTQKAPKAKPSLLRRVSTLANTLSRHTMQTTARALKRGHSLAMWIPGVAPLSSLAQWGASAAMQVVSRRQSEVRVPWLHNLAASKDENHEDQTDTEGEETDEEEEEEESEAEENVLREVTALPTPLGFLGGVVHTVQKTLQNTISAVTWAPAAVLGTVGRILHLTPAQAVSSTKGRAMSLSDALKGVTDNVVDTVVHYVPLPRLSLMEPESEFQDIDNPPAEVERKGSGSRPASPESTARPGQPRAACAVRGLSAPSCPDLDDKTETSARPGLLAMPREKPARRVSDSFFRPSVMEPILGRTQYSQLRKKS", "length": 517 }, "evidence": [ { "id": "45921282", "url": "http://www.informatics.jax.org/homology/45921282", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8CGN5-1", "protein_name": "Perilipin-1", "gene_name": "Plin1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSMNKGPTLLDGDLPEQENVLQRVLQLPVVSGTCECFQKTYNSTKEAHPLVASVCNAYEKGVQGASNLAAWSMEPVVRRLSTQFTAANELACRGLDHLEEKIPALQYPPEKIASELKGTISTRLRSARNSISVPIASTSDKVLGATLAGCELALGMAKETAEYAANTRVGRLASGGADLALGSIEKVVEFLLPPDKESAPSSGRQRTQKAPKAKPSLVRRVSTLANTLSRHTMQTTAWALKQGHSLAMWIPGVAPLSSLAQWGASAAMQVVSRRQSEVRVPWLHNLAASQDESHDDQTDTEGEETDDEEEEEESEAEENVLREVTALPNPRGLLGGVVHTVQNTLRNTISAVTWAPAAVLGTVGRILHLTPAQAVSSTKGRAMSLSDALKGVTDNVVDTVVHYVPLPRLSLMEPESEFRDIDNPSAEAERKGSGARPASPESTPRPGQPRGSLRSVRGLSAPSCPGLDDKTEASARPGFLAMPREKPARRVSDSFFRPSVMEPILGRAQYSQLRKKS", "length": 517 }, "evidence": [ { "id": "45921282", "url": "http://www.informatics.jax.org/homology/45921282", "database": "MGI" }, { "id": "O60240", "url": "https://omabrowser.org/oma/group/O60240/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "cellular response to cold", "id": "GO:0070417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070417", "evidence": [ { "database": "UniProtKB", "id": "O60240", "url": "https://www.uniprot.org/uniprot/O60240" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "O60240", "url": "https://www.uniprot.org/uniprot/O60240" } ], "pmid": "" }, { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "O60240", "url": "https://www.uniprot.org/uniprot/O60240" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O60240", "url": "https://www.uniprot.org/uniprot/O60240" } ], "pmid": "" }, { "name": "lipid droplet", "id": "GO:0005811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005811", "evidence": [ { "database": "UniProtKB", "id": "O60240", "url": "https://www.uniprot.org/uniprot/O60240" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O60240", "url": "https://www.uniprot.org/uniprot/O60240" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O60240", "url": "https://www.uniprot.org/uniprot/O60240" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "O60240", "url": "https://www.uniprot.org/uniprot/O60240" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 266 ], "snv_sites": [ 131, 135, 266, 297, 366, 520 ], "glycation_sites": [], "phosphorylation_sites": [ 81, 85, 126, 130, 132, 137, 174, 277, 299, 301, 382, 384, 408, 436, 497, 499, 522 ], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 18 }, { "field": "total_sites", "count": 17 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 49 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }