{ "uniprot_canonical_ac": "P09529-1", "uniprot_ac": "P09529", "uniprot_id": "INHBB_HUMAN", "mass": { "chemical_mass": 45122.0, "monoisotopic_mass": 45122.0 }, "refseq": { "ac": "NP_002184", "name": "inhibin beta B chain preproprotein", "summary": "This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate a subunit of the dimeric activin and inhibin protein complexes. These complexes activate and inhibit, respectively, follicle stimulating hormone secretion from the pituitary gland. Polymorphisms near this gene are associated with pre-eclampsia in female human patients. [provided by RefSeq, Aug 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002184" }, "gene_names": [ { "name": "INHBB", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P09529", "id": "P09529" }, { "name": "INHBB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002184", "id": "NP_002184" } ], "protein_names": [ { "name": "Inhibin beta B chain", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P09529" }, { "name": "Activin beta-B chain", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P09529" }, { "name": "activin AB beta polypeptide; Inhibin, beta-2; inhibin beta B chain; activin beta-B chain; inhibin beta B subunit", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002184", "id": "NP_002184" }, { "name": "inhibin beta B chain preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002184", "id": "NP_002184" } ], "function": [ { "annotation": "Dose inhibin B or anti-Mullerian hormone relate to precocious puberty in girls? result of a systematic review and meta-analysis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002184", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002184" }, { "database": "PubMed", "id": "37996919", "url": "https://glygen.org/publication/PubMed/37996919" } ] }, { "annotation": "Downregulated INHBB in endometrial tissue of recurrent implantation failure patients impeded decidualization through the ADCY1/cAMP signalling pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_002184", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002184" }, { "database": "PubMed", "id": "36913138", "url": "https://glygen.org/publication/PubMed/36913138" } ] }, { "annotation": "INHBB promotes tumor aggressiveness and stemness of glioblastoma via activating EGFR signaling.", "evidence": [ { "database": "RefSeq", "id": "NP_002184", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002184" }, { "database": "PubMed", "id": "37116368", "url": "https://glygen.org/publication/PubMed/37116368" } ] }, { "annotation": "Inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland. Inhibins/activins are involved in regulating a number of diverse functions such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, germ cell development and maturation, erythroid differentiation, insulin secretion, nerve cell survival, embryonic axial development or bone growth, depending on their subunit composition. Inhibins appear to oppose the functions of activins.", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529#function" } ] }, { "annotation": "Paracrine activin B-NF-kappaB signaling shapes an inflammatory tumor microenvironment in gastric cancer via fibroblast reprogramming. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002184", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002184" }, { "database": "PubMed", "id": "37858201", "url": "https://glygen.org/publication/PubMed/37858201" } ] }, { "annotation": "This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate a subunit of the dimeric activin and inhibin protein complexes. These complexes activate and inhibit, respectively, follicle stimulating hormone secretion from the pituitary gland. Polymorphisms near this gene are associated with pre-eclampsia in female human patients. [provided by RefSeq, Aug 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_002184", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002184" } ] }, { "annotation": "Undetectable anti-Mullerian hormone and inhibin B do not preclude the presence of germ cell tumours in 45,X/46,XY or 46,XY gonadal dysgenesis.", "evidence": [ { "database": "RefSeq", "id": "NP_002184", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002184" }, { "database": "PubMed", "id": "36905105", "url": "https://glygen.org/publication/PubMed/36905105" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs759567914", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759567914" }, { "id": "rs759567914", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759567914" }, { "id": "rs759567914", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759567914" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 167, "end_pos": 167, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NEG->NES).", "chr_id": "2", "chr_pos": "120349149", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G167", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1573388316", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1573388316" }, { "id": "rs1573388316", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1573388316" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 170, "end_pos": 170, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQN->NQT).", "chr_id": "2", "chr_pos": "120349159", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N170", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1200849451", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1200849451" }, { "id": "rs1200849451", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1200849451#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 35, "end_pos": 35, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->P).", "chr_id": "2", "chr_pos": "120346291", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T35", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs11900747", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs11900747" }, { "id": "rs11900747", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs11900747" }, { "id": "rs11900747", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs11900747" }, { "id": "rs11900747", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs11900747#frequency_tab" }, { "id": "rs11900747", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs11900747" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 47, "end_pos": 47, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->A).", "chr_id": "2", "chr_pos": "120346327", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.2486", "site_lbl": "S47", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1268651265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1268651265" }, { "id": "rs1268651265", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1268651265" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 93, "end_pos": 93, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->SIT).", "chr_id": "2", "chr_pos": "120346466", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N93", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "67.4", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000163083", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163083" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "62.2", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000163083", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163083" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "62.26", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000163083", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163083" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "70.32", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000163083", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163083" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "74.05", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000163083", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163083" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "54.25", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000163083", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163083" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "59.06", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000163083", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163083" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "71.22", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000163083", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163083" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "88.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163083", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163083" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "59.51", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000163083", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163083" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "79.69", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000163083", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163083" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "75.67", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000163083", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163083" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "91.47", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163083", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163083" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P09529", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09529" } ], "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": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P09529", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09529" } ], "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": "P09529", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09529" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P09529", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09529" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P09529", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09529" } ], "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": "P09529", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09529" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P09529", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09529" } ], "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": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P09529", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09529" } ], "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": "P09529", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09529" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P09529", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09529" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P09529", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09529" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P09529", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09529" } ], "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": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "common_name": "Human" } ], "gene": [ { "name": "INHBB", "url": "https://www.uniprot.org/uniprot/P09529", "locus": { "chromosome": "2", "start_pos": 120351803, "end_pos": 120346136, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000163083", "url": "https://www.ensembl.org/id/ENSG00000163083" } ] } } ], "crossref": [ { "id": "ENSG00000163083", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163083", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd19405", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd19405", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "INHBB", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=INHBB", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "3625", "url": "https://www.ncbi.nlm.nih.gov/gene/3625", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "6067", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6067", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P09529", "url": "https://www.ebi.ac.uk/intact/interactors/id:P09529*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000381", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000381", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001111", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001111", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001839", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001839", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR015615", "url": "https://www.ebi.ac.uk/interpro/entry/IPR015615", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017948", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017948", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR029034", "url": "https://www.ebi.ac.uk/interpro/entry/IPR029034", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:3625", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3625", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "147390", "url": "http://www.omim.org/entry/147390", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P09529", "url": "https://www.nextprot.org/entry/NX_P09529", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "DIQCEGC", "url": "https://omabrowser.org/oma/group/DIQCEGC/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3015718at2759", "url": "http://www.orthodb.org/?query=3015718at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11848", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11848", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11848:SF29", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11848:SF29", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "7U5O", "url": "https://www.rcsb.org/structure/7U5O", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00019", "url": "http://pfam.xfam.org/family/PF00019", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00688", "url": "http://pfam.xfam.org/family/PF00688", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P09529", "url": "https://pharos.nih.gov/targets/P09529", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000054651", "url": "https://proconsortium.org/app/entry/PR:000054651", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054652", "url": "https://proconsortium.org/app/entry/PR:000054652", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_P09529", "url": "http://purl.obolibrary.org/obo/PR_P09529", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1502540", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1502540", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-209822", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-209822", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-2473224", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2473224", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_002184", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002184", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P09529", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P09529-1", "url": "https://www.uniprot.org/uniprot/P09529-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDGLPGRALGAACLLLLAAGWLGPEAWGSPTPPPTPAAPPPPPPPGSPGGSQDTCTSCGGFRRPEELGRVDGDFLEAVKRHILSRLQMRGRPNITHAVPKAAMVTALRKLHAGKVREDGRVEIPHLDGHASPGADGQERVSEIISFAETDGLASSRVRLYFFISNEGNQNLFVVQASLWLYLKLLPYVLEKGSRRKVRVKVYFQEQGHGDRWNMVEKRVDLKRSGWHTFPLTEAIQALFERGERRLNLDVQCDSCQELAVVPVFVDPGEESHRPFVVVQARLGDSRHRIRKRGLECDGRTNLCCRQQFFIDFRLIGWNDWIIAPTGYYGNYCEGSCPAYLAGVPGSASSFHTAVVNQYRMRGLNPGTVNSCCIPTKLSTMSMLYFDDEYNIVKRDVPNMIVEECGCA", "length": 407, "header": "sp|P09529-1|INHBB_HUMAN Isoform 1 of Inhibin beta B chain OS=Homo sapiens OX=9606 GN=INHBB PE=1 SV=2 CANONICAL=P09529-1" }, "isoforms": [ { "isoform_ac": "P09529-1", "url": "", "sequence": { "sequence": "MDGLPGRALGAACLLLLAAGWLGPEAWGSPTPPPTPAAPPPPPPPGSPGGSQDTCTSCGGFRRPEELGRVDGDFLEAVKRHILSRLQMRGRPNITHAVPKAAMVTALRKLHAGKVREDGRVEIPHLDGHASPGADGQERVSEIISFAETDGLASSRVRLYFFISNEGNQNLFVVQASLWLYLKLLPYVLEKGSRRKVRVKVYFQEQGHGDRWNMVEKRVDLKRSGWHTFPLTEAIQALFERGERRLNLDVQCDSCQELAVVPVFVDPGEESHRPFVVVQARLGDSRHRIRKRGLECDGRTNLCCRQQFFIDFRLIGWNDWIIAPTGYYGNYCEGSCPAYLAGVPGSASSFHTAVVNQYRMRGLNPGTVNSCCIPTKLSTMSMLYFDDEYNIVKRDVPNMIVEECGCA", "length": 407, "header": "sp|P09529-1|INHBB_HUMAN Isoform 1 of Inhibin beta B chain OS=Homo sapiens OX=9606 GN=INHBB PE=1 SV=2 CANONICAL=P09529-1" }, "locus": { "chromosome": "2", "start_pos": 120349871, "end_pos": 120346189, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000295228.4", "url": "https://www.ensembl.org/id/ENST00000295228.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000295228.3", "url": "https://www.ensembl.org/id/ENSP00000295228.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 35, "start_aa": "Thr", "end_pos": 35, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr35", "evidence": [ { "id": "P09529", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 369, "start_aa": "Asn", "end_pos": 369, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn369", "evidence": [ { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 47, "start_aa": "Ser", "end_pos": 47, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser47", "evidence": [ { "id": "P09529", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 93, "start_aa": "Asn", "end_pos": 93, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn93", "evidence": [ { "id": "P09529", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09529#ptm_processing" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" } ] } ], "phosphorylation": [ { "start_pos": 145, "end_pos": 145, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P09529", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09529" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ], "site_lbl": "Ser145" }, { "start_pos": 149, "end_pos": 149, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P09529", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09529" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ], "site_lbl": "Thr149" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_reported" ], "publication": [ { "title": "Truncated activin type I receptor Alk4 isoforms are dominant negative receptors inhibiting activin signaling.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2000", "authors": "Zhou Y, Sun H, Danila DC, Johnson SR, Sigai DP, Zhang X, Klibanski A", "evidence": [ { "database": "Reactome", "id": "R-HSA-1502540", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1502540" } ], "reference": [ { "type": "PubMed", "id": "11117535", "url": "https://glygen.org/publication/PubMed/11117535" } ] }, { "title": "Human follistatin-related protein: a structural homologue of follistatin with nuclear localization.", "journal": "Endocrinology", "date": "2001", "authors": "Tortoriello DV, Sidis Y, Holtzman DA, Holmes WE, Schneyer AL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2473224", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2473224" } ], "reference": [ { "type": "PubMed", "id": "11459787", "url": "https://glygen.org/publication/PubMed/11459787" } ] }, { "title": "Human pituitary lutropin. Isolation, properties, and the complete amino acid sequence of the beta-subunit.", "journal": "Biochimica et biophysica acta", "date": "1975", "authors": "Sairam MR, Li CH", "evidence": [ { "database": "Reactome", "id": "R-HSA-209822", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-209822" } ], "reference": [ { "type": "PubMed", "id": "1191677", "url": "https://glygen.org/publication/PubMed/1191677" } ] }, { "title": "Follistatin-related protein and follistatin differentially neutralize endogenous vs. exogenous activin.", "journal": "Endocrinology", "date": "2002", "authors": "Sidis Y, Tortoriello DV, Holmes WE, Pan Y, Keutmann HT, Schneyer AL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2473224", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2473224" } ], "reference": [ { "type": "PubMed", "id": "11956142", "url": "https://glygen.org/publication/PubMed/11956142" } ] }, { "title": "Differential binding and neutralization of activins A and B by follistatin and follistatin like-3 (FSTL-3/FSRP/FLRG).", "journal": "Endocrinology", "date": "2003", "authors": "Schneyer A, Schoen A, Quigg A, Sidis Y", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" }, { "database": "Reactome", "id": "R-HSA-2473224", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2473224" } ], "reference": [ { "type": "PubMed", "id": "12697670", "url": "https://glygen.org/publication/PubMed/12697670" } ] }, { "title": "Receptor internalization-independent activation of Smad2 in activin signaling.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2004", "authors": "Zhou Y, Scolavino S, Funderburk SF, Ficociello LF, Zhang X, Klibanski A", "evidence": [ { "database": "Reactome", "id": "R-HSA-1502540", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1502540" } ], "reference": [ { "type": "PubMed", "id": "15087470", "url": "https://glygen.org/publication/PubMed/15087470" } ] }, { "title": "An activin mutant with disrupted ALK4 binding blocks signaling via type II receptors.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Harrison CA, Gray PC, Fischer WH, Donaldson C, Choe S, Vale W", "evidence": [ { "database": "Reactome", "id": "R-HSA-1502540", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1502540" } ], "reference": [ { "type": "PubMed", "id": "15123686", "url": "https://glygen.org/publication/PubMed/15123686" } ] }, { "title": "Activin-binding proteins in human serum and follicular fluid.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1992", "authors": "Schneyer AL, O'Neil DA, Crowley WF Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-2473224", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2473224" } ], "reference": [ { "type": "PubMed", "id": "1592877", "url": "https://glygen.org/publication/PubMed/1592877" } ] }, { "title": "Expression of beta-subunit of HCG genes during normal and failed pregnancy.", "journal": "Human reproduction (Oxford, England)", "date": "2005", "authors": "Rull K, Laan M", "evidence": [ { "database": "Reactome", "id": "R-HSA-209822", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-209822" } ], "reference": [ { "type": "PubMed", "id": "16123088", "url": "https://glygen.org/publication/PubMed/16123088" } ] }, { "title": "Activin A mediates growth inhibition and cell cycle arrest through Smads in human breast cancer cells.", "journal": "Cancer research", "date": "2005", "authors": "Burdette JE, Jeruss JS, Kurley SJ, Lee EJ, Woodruff TK", "evidence": [ { "database": "Reactome", "id": "R-HSA-1502540", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1502540" } ], "reference": [ { "type": "PubMed", "id": "16140969", "url": "https://glygen.org/publication/PubMed/16140969" } ] }, { "title": "The structure of the follistatin:activin complex reveals antagonism of both type I and type II receptor binding.", "journal": "Developmental cell", "date": "2005", "authors": "Thompson TB, Lerch TF, Cook RW, Woodruff TK, Jardetzky TS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2473224", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2473224" } ], "reference": [ { "type": "PubMed", "id": "16198295", "url": "https://glygen.org/publication/PubMed/16198295" } ] }, { "title": "The role of O-linked and N-linked oligosaccharides on the structure-function of glycoprotein hormones: development of agonists and antagonists.", "journal": "Biochimica et biophysica acta", "date": "2006", "authors": "Fares F", "evidence": [ { "database": "Reactome", "id": "R-HSA-209822", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-209822" } ], "reference": [ { "type": "PubMed", "id": "16527410", "url": "https://glygen.org/publication/PubMed/16527410" } ] }, { "title": "Role of disulfide bond formation in the folding of human chorionic gonadotropin beta subunit into an alpha beta dimer assembly-competent form.", "journal": "The Journal of biological chemistry", "date": "1990", "authors": "Beebe JS, Mountjoy K, Krzesicki RF, Perini F, Ruddon RW", "evidence": [ { "database": "Reactome", "id": "R-HSA-209822", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-209822" } ], "reference": [ { "type": "PubMed", "id": "1688430", "url": "https://glygen.org/publication/PubMed/1688430" } ] }, { "title": "MicroRNA miR-24 inhibits erythropoiesis by targeting activin type I receptor ALK4.", "journal": "Blood", "date": "2008", "authors": "Wang Q, Huang Z, Xue H, Jin C, Ju XL, Han JD, Chen YG", "evidence": [ { "database": "Reactome", "id": "R-HSA-1502540", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1502540" } ], "reference": [ { "type": "PubMed", "id": "17906079", "url": "https://glygen.org/publication/PubMed/17906079" } ] }, { "title": "Activin signals via SMAD2/3 between germ and somatic cells in the human fetal ovary and regulates kit ligand expression.", "journal": "Developmental biology", "date": "2008", "authors": "Coutts SM, Childs AJ, Fulton N, Collins C, Bayne RA, McNeilly AS, Anderson RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1502540", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1502540" } ], "reference": [ { "type": "PubMed", "id": "18166170", "url": "https://glygen.org/publication/PubMed/18166170" } ] }, { "title": "The structure of FSTL3.activin A complex. Differential binding of N-terminal domains influences follistatin-type antagonist specificity.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Stamler R, Keutmann HT, Sidis Y, Kattamuri C, Schneyer A, Thompson TB", "evidence": [ { "database": "Reactome", "id": "R-HSA-2473224", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2473224" } ], "reference": [ { "type": "PubMed", "id": "18768470", "url": "https://glygen.org/publication/PubMed/18768470" } ] }, { "title": "Insulin gene is a target in activin receptor-like kinase 7 signaling pathway in pancreatic beta-cells.", "journal": "Biochemical and biophysical research communications", "date": "2008", "authors": "Watanabe R, Shen ZP, Tsuda K, Yamada Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-1502540", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1502540" } ], "reference": [ { "type": "PubMed", "id": "18951876", "url": "https://glygen.org/publication/PubMed/18951876" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "P09529", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09529" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] }, { "title": "Quantification of the N-glycosylated secretome by super-SILAC during breast cancer progression and in human blood samples.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013", "authors": "Boersema PJ, Geiger T, Wisniewski JR, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "23090970", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "title": "Purification and characterization of recombinant human activin B.", "journal": "Biochim. Biophys. Acta", "date": "1990", "authors": "Schmelzer C H, Burton L E, Tamony C M, Schwall R H, Mason A J, Liegeois N", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "reference": [ { "type": "PubMed", "id": "2364091", "url": "https://glygen.org/publication/PubMed/2364091" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "Activin B: precursor sequences, genomic structure and in vitro activities.", "journal": "Mol. Endocrinol.", "date": "1989", "authors": "Mason A J, Berkemeier L M, Schmelzer C H, Schwall R H", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "reference": [ { "type": "PubMed", "id": "2575216", "url": "https://glygen.org/publication/PubMed/2575216" } ] }, { "title": "Characterization and regulation of testicular inhibin beta-subunit mRNA.", "journal": "Mol. Endocrinol.", "date": "1989", "authors": "Feng ZM, Bardin CW, Chen CL", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "reference": [ { "type": "PubMed", "id": "2739657", "url": "https://glygen.org/publication/PubMed/2739657" } ] }, { "title": "Mapping the O-glycoproteome using site-specific extraction of O-linked glycopeptides (EXoO).", "journal": "Molecular systems biology", "date": "2018", "authors": "Yang W, Ao M, Hu Y, Li QK, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "P09529", "url": "" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "title": "Undetectable anti-Mullerian hormone and inhibin B do not preclude the presence of germ cell tumours in 45,X/46,XY or 46,XY gonadal dysgenesis.", "journal": "Clinical endocrinology", "date": "2023-03-10", "authors": "Hannema Sabine E, Wolffenbuttel Katja P, van Bever Yolande, Bruggenwirth Hennie T, van den Berg Sjoerd A A, Hersmus Remko, Wolter Oosterhuis J, Looijenga Leendert H J", "evidence": [ { "database": "RefSeq", "id": "NP_002184", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002184" } ], "reference": [ { "type": "PubMed", "id": "36905105", "url": "https://glygen.org/publication/PubMed/36905105" } ] }, { "title": "Downregulated INHBB in endometrial tissue of recurrent implantation failure patients impeded decidualization through the ADCY1/cAMP signalling pathway.", "journal": "Journal of assisted reproduction and genetics", "date": "2023-03-13", "authors": "Zhang Hui, Wang Zhilong, Zhou Quan, Cao Zhiwen, Jiang Yue, Xu Manlin, Liu Jingyu, Zhou Jidong, Yan Guijun, Sun Haixiang", "evidence": [ { "database": "RefSeq", "id": "NP_002184", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002184" } ], "reference": [ { "type": "PubMed", "id": "36913138", "url": "https://glygen.org/publication/PubMed/36913138" } ] }, { "title": "INHBB promotes tumor aggressiveness and stemness of glioblastoma via activating EGFR signaling.", "journal": "Pathology, research and practice", "date": "2023-04-10", "authors": "Yang Xinyu, Jia Qingge, Zou Zheng, Liu Xuantong, Li Xinning, Chen He, Ma Hongxin, Chen Ligang", "evidence": [ { "database": "RefSeq", "id": "NP_002184", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002184" } ], "reference": [ { "type": "PubMed", "id": "37116368", "url": "https://glygen.org/publication/PubMed/37116368" } ] }, { "title": "Structure of two human ovarian inhibins.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1986", "authors": "Mason AJ, Niall HD, Seeburg PH", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "reference": [ { "type": "PubMed", "id": "3754442", "url": "https://glygen.org/publication/PubMed/3754442" } ] }, { "title": "Paracrine activin B-NF-\u03baB signaling shapes an inflammatory tumor microenvironment in gastric cancer via fibroblast reprogramming.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2023-10-19", "authors": "Jin Yangbing, Cai Qu, Wang Lingquan, Ji Jun, Sun Ying, Jiang Jinling, Wang Chao, Wu Junwei, Zhang Benyan, Zhao Liqin, Qi Feng, Yu Beiqin, Zhang Jun", "evidence": [ { "database": "RefSeq", "id": "NP_002184", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002184" } ], "reference": [ { "type": "PubMed", "id": "37858201", "url": "https://glygen.org/publication/PubMed/37858201" } ] }, { "title": "Dose inhibin B or anti-M\u00fcllerian hormone relate to precocious puberty in girls? result of a systematic review and meta-analysis.", "journal": "Journal of ovarian research", "date": "2023-11-23", "authors": "Jiang Mei, Gao Ying, Qu Tiange, Ji Yuechen, Niu Yiwen, Zhang Jiaxin, Huang Ling", "evidence": [ { "database": "RefSeq", "id": "NP_002184", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002184" } ], "reference": [ { "type": "PubMed", "id": "37996919", "url": "https://glygen.org/publication/PubMed/37996919" } ] }, { "title": "Studies on the disulfide bonds in human pituitary follicle-stimulating hormone.", "journal": "Biochimica et biophysica acta", "date": "1980", "authors": "Fujiki Y, Rathnam P, Saxena BB", "evidence": [ { "database": "Reactome", "id": "R-HSA-209822", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-209822" } ], "reference": [ { "type": "PubMed", "id": "6774759", "url": "https://glygen.org/publication/PubMed/6774759" } ] }, { "title": "Thyroid-stimulating hormone subunits: evidence from endoglycosidase-H cleavage for late presecretory glycosylation.", "journal": "Endocrinology", "date": "1981", "authors": "Chin WW, Habener JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-209822", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-209822" } ], "reference": [ { "type": "PubMed", "id": "7215288", "url": "https://glygen.org/publication/PubMed/7215288" } ] }, { "title": "Identification and characterization of binding proteins for inhibin and activin in human serum and follicular fluids.", "journal": "Endocrinology", "date": "1993", "authors": "Krummen LA, Woodruff TK, DeGuzman G, Cox ET, Baly DL, Mann E, Garg S, Wong WL, Cossum P, Mather JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-2473224", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2473224" } ], "reference": [ { "type": "PubMed", "id": "7678220", "url": "https://glygen.org/publication/PubMed/7678220" } ] }, { "title": "Characterization of unique binding kinetics of follistatin and activin or inhibin in serum.", "journal": "Endocrinology", "date": "1994", "authors": "Schneyer AL, Rzucidlo DA, Sluss PM, Crowley WF Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-2473224", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2473224" } ], "reference": [ { "type": "PubMed", "id": "8033815", "url": "https://glygen.org/publication/PubMed/8033815" } ] }, { "title": "Type I receptors specify growth-inhibitory and transcriptional responses to transforming growth factor beta and activin.", "journal": "Molecular and cellular biology", "date": "1994", "authors": "Carcamo J, Weis FM, Ventura F, Wieser R, Wrana JL, Attisano L, Massague J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1502540", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1502540" } ], "reference": [ { "type": "PubMed", "id": "8196624", "url": "https://glygen.org/publication/PubMed/8196624" } ] }, { "title": "Activation of signalling by the activin receptor complex.", "journal": "Molecular and cellular biology", "date": "1996", "authors": "Attisano L, Wrana JL, Montalvo E, Massague J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1502540", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1502540" } ], "reference": [ { "type": "PubMed", "id": "8622651", "url": "https://glygen.org/publication/PubMed/8622651" } ] }, { "title": "Formation and activation by phosphorylation of activin receptor complexes.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "1996", "authors": "Willis SA, Zimmerman CM, Li LI, Mathews LS", "evidence": [ { "database": "Reactome", "id": "R-HSA-1502540", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1502540" } ], "reference": [ { "type": "PubMed", "id": "8721982", "url": "https://glygen.org/publication/PubMed/8721982" } ] }, { "title": "Activin and inhibin have antagonistic effects on ligand-dependent heteromerization of the type I and type II activin receptors and human erythroid differentiation.", "journal": "Molecular and cellular biology", "date": "1997", "authors": "Lebrun JJ, Vale WW", "evidence": [ { "database": "Reactome", "id": "R-HSA-1502540", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1502540" } ], "reference": [ { "type": "PubMed", "id": "9032295", "url": "https://glygen.org/publication/PubMed/9032295" } ] }, { "title": "Regulation of activin type I receptor function by phosphorylation of residues outside the GS domain.", "journal": "FEBS letters", "date": "1997", "authors": "Willis SA, Mathews LS", "evidence": [ { "database": "Reactome", "id": "R-HSA-1502540", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1502540" } ], "reference": [ { "type": "PubMed", "id": "9459292", "url": "https://glygen.org/publication/PubMed/9459292" } ] } ], "pathway": [ { "id": "hsa:3625", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3625", "resource": "KEGG Pathway" }, { "id": "R-HSA-1502540", "name": "Signaling by Activin", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1502540", "resource": "Reactome", "description": "Signaling by Activin" }, { "id": "R-HSA-209822", "name": "Glycoprotein hormones", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-209822", "resource": "Reactome", "description": "Glycoprotein hormones" }, { "id": "R-HSA-2473224", "name": "Antagonism of Activin by Follistatin", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2473224", "resource": "Reactome", "description": "Antagonism of Activin by Follistatin" } ], "orthologs": [ { "uniprot_canonical_ac": "P17491-1", "protein_name": "Inhibin beta B chain", "gene_name": "Inhbb", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MDGLPGRALGAACLLLLAAGWLGPEAWGSPTPPPSPAAPPPPPPPGAPGGSQDTCTSCGGGGGGFRRPEELGRVDGDFLEAVKRHILSRLQLRGRPNITHAVPKAAMVTALRKLHAGKVREDGRVEIPHLDGHASPGADGQERVSEIISFAETDGLASSRVRLYFFVSNEGNQNLFVVQASLWLYLKLLPYVLEKGSRRKVRVKVYFQEQGHGDRWNVVEKKVDLKRSGWHTFPITEAIQALFERGERRLNLDVQCDSCQELAVVPVFVDPGEESHRPFVVVQARLGDSRHRIRKRGLECDGRTSLCCRQQFFIDFRLIGWNDWIIAPTGYYGNYCEGSCPAYLAGVPGSASSFHTAVVNQYRMRGLNPGPVNSCCIPTKLSSMSMLYFDDEYNIVKRDVPNMIVEECGCA", "length": 411 }, "evidence": [ { "id": "45916779", "url": "http://www.informatics.jax.org/homology/45916779", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q04999-1", "protein_name": "Inhibin beta B chain", "gene_name": "Inhbb", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MDGLPGRALGAACLLLLVAGWLGPEAWGSPTPPPSPAAPPPPPPPGAPGGSQDTCTSCGGGGGGFRRPEELGRVDGDFLEAVKRHILSRLQLRGRPNITHAVPKAAMVTALRKLHAGKVREDGRVEIPHLDGHASPGADGQERVSEIISFAETDGLASSRVRLYFFVSNEGNQNLFVVQASLWLYLKLLPYVLEKGSRRKVRVKVYFQEQGHGDRWNVVEKKVDLKRSGWHTFPITEAIQALFERGERRLNLDVQCDSCQELAVVPVFVDPGEESHRPFVVVQARLGDSRHRIRKRGLECDGRTSLCCRQQFFIDFRLIGWNDWIIAPTGYYGNYCEGSCPAYLAGVPGSASSFHTAVVNQYRMRGLNPGPVNSCCIPTKLSSMSMLYFDDEYNIVKRDVPNMIVEECGCA", "length": 411 }, "evidence": [ { "id": "45916779", "url": "http://www.informatics.jax.org/homology/45916779", "database": "MGI" }, { "id": "P09529", "url": "https://omabrowser.org/oma/group/P09529/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 28, "go_terms": [ { "name": "negative regulation of follicle-stimulating hormone secretion", "id": "GO:0046882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046882", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "pmid": "" }, { "name": "positive regulation of ovulation", "id": "GO:0060279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060279", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "pmid": "" }, { "name": "defense response", "id": "GO:0006952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006952", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "pmid": "" }, { "name": "cellular response to cAMP", "id": "GO:0071320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071320", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "pmid": "" }, { "name": "cellular response to cholesterol", "id": "GO:0071397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071397", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "pmid": "" }, { "name": "apoptotic signaling pathway", "id": "GO:0097190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097190", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "pmid": "" }, { "name": "positive regulation of apoptotic signaling pathway", "id": "GO:2001235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001235", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "pmid": "" }, { "name": "cellular response to calcium ion", "id": "GO:0071277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071277", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "pmid": "" }, { "name": "negative regulation of insulin secretion", "id": "GO:0046676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046676", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "pmid": "" }, { "name": "pituitary gland development", "id": "GO:0021983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021983", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "pmid": "" }, { "name": "activin receptor signaling pathway", "id": "GO:0032924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032924", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "pmid": "" }, { "name": "ovarian follicle development", "id": "GO:0001541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001541", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "pmid": "" }, { "name": "seminiferous tubule development", "id": "GO:0072520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072520", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": "GO:0009267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "pmid": "" }, { "name": "cellular response to interleukin-1", "id": "GO:0071347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071347", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "pmid": "" }, { "name": "cellular response to thyroid hormone stimulus", "id": "GO:0097067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097067", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "pmid": "" }, { "name": "response to insecticide", "id": "GO:0017085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017085", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "pmid": "" }, { "name": "cellular response to Thyroglobulin triiodothyronine", "id": "GO:1904017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904017", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "pmid": "" }, { "name": "oocyte development", "id": "GO:0048599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048599", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "pmid": "" }, { "name": "response to gonadotropin", "id": "GO:0034698", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034698", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "pmid": "" }, { "name": "cellular response to leptin stimulus", "id": "GO:0044320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044320", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "pmid": "" }, { "name": "positive regulation of follicle-stimulating hormone secretion", "id": "GO:0046881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046881", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "pmid": "" }, { "name": "negative regulation of hepatocyte growth factor production", "id": "GO:0032686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032686", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "pmid": "" }, { "name": "cell periphery", "id": "GO:0071944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071944", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "pmid": "" }, { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "pmid": "" }, { "name": "hormone activity", "id": "GO:0005179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005179", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "pmid": "" }, { "name": "growth factor activity", "id": "GO:0008083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008083", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "pmid": "" }, { "name": "host cell surface receptor binding", "id": "GO:0046789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046789", "evidence": [ { "database": "UniProtKB", "id": "P09529", "url": "https://www.uniprot.org/uniprot/P09529" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "inhibin beta B chain O-glycosylated 1 (human)", "definition": "An inhibin beta B chain (human) that has been O-glycosylated at the residue equivalent to Ser-47 of the amino acid sequence represented by UniProtKB:P09529-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P09529-1, Ser-47, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054651", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054651" } ] }, { "name": "inhibin beta B chain O-glycosylated 2 (human)", "definition": "An inhibin beta B chain (human) that has been O-glycosylated at the residue equivalent to Thr-35 of the amino acid sequence represented by UniProtKB:P09529-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P09529-1, Thr-35, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054652", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054652" } ] } ], "site_annotation": [ { "start_pos": 93, "end_pos": 95, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 93, 369 ], "o_linked_sites": [ 35, 47 ], "snv_sites": [ 35, 47, 93, 167, 170 ], "glycation_sites": [], "phosphorylation_sites": [ 145, 149 ], "sequon_annotation_sites": [ { "start_pos": 93, "end_pos": 95 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "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": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "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_with_glycan", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "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": 2 } ], "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": 2 }, { "field": "total_sites", "count": 2 } ], "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": 5 }, { "field": "total_sites", "count": 5 } ], "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": 5 }, { "field": "total_sites", "count": 5 } ], "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": 39 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }