{ "uniprot_canonical_ac": "P13385-1", "uniprot_ac": "P13385", "uniprot_id": "TDGF1_HUMAN", "mass": { "chemical_mass": 21169.0, "monoisotopic_mass": 21169.0 }, "refseq": { "ac": "NP_001167607", "name": "protein Cripto isoform 2", "summary": "This gene encodes an epidermal growth factor-related protein that contains a cripto, FRL-1, and cryptic domain. The encoded protein is an extracellular, membrane-bound signaling protein that plays an essential role in embryonic development and tumor growth. Mutations in this gene are associated with forebrain defects. Pseudogenes of this gene are found on chromosomes 2, 3, 6, 8, 19 and X. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167607" }, "gene_names": [ { "name": "CRIPTO", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P13385", "id": "P13385" }, { "name": "CR; CR-1; CRGF; TDGF1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167607", "id": "NP_001167607" }, { "name": "CRIPTO-1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P13385", "id": "P13385" }, { "name": "CRIPTO", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167607", "id": "NP_001167607" }, { "name": "TDGF1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P13385", "id": "P13385" } ], "protein_names": [ { "name": "Protein Cripto", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P13385" }, { "name": "CRGF", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13385" }, { "name": "Cripto, EGF-CFC family member", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13385" }, { "name": "Cripto-1 growth factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13385" }, { "name": "Epidermal growth factor-like cripto protein CR1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13385" }, { "name": "Teratocarcinoma-derived growth factor 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13385" }, { "name": "cripto-1 growth factor; epidermal growth factor-like cripto protein CR1; teratocarcinoma-derived growth factor 1; protein Cripto", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167607", "id": "NP_001167607" }, { "name": "protein Cripto isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167607", "id": "NP_001167607" } ], "function": [ { "annotation": "CRIPTO-1 Is Immunolocalized in the Syncytiotrophoblast of Ampullary Pregnancies. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001167607", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167607" }, { "database": "PubMed", "id": "35434129", "url": "https://glygen.org/publication/PubMed/35434129" } ] }, { "annotation": "Cripto-1 as a Key Factor in Tumor Progression, Epithelial to Mesenchymal Transition and Cancer Stem Cells. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001167607", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167607" }, { "database": "PubMed", "id": "34502188", "url": "https://glygen.org/publication/PubMed/34502188" } ] }, { "annotation": "GPI-anchored cell membrane protein involved in Nodal signaling. Cell-associated CRIPTO acts as a Nodal coreceptor in cis. Shedding of CRIPTO by TMEM8A modulates Nodal signaling by allowing soluble CRIPTO to act as a Nodal coreceptor on other cells (PubMed:27881714). Could play a role in the determination of the epiblastic cells that subsequently give rise to the mesoderm (PubMed:11909953).", "evidence": [ { "database": "UniProtKB", "id": "P13385", "url": "https://www.uniprot.org/uniprot/P13385#function" }, { "database": "PubMed", "id": "27881714", "url": "https://glygen.org/publication/PubMed/27881714" }, { "database": "PubMed", "id": "11909953", "url": "https://glygen.org/publication/PubMed/11909953" } ] }, { "annotation": "Liver-specific over-expression of Cripto-1 in transgenic mice promotes hepatocyte proliferation and deregulated expression of hepatocarcinogenesis-related genes and signaling pathways.", "evidence": [ { "database": "RefSeq", "id": "NP_001167607", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167607" }, { "database": "PubMed", "id": "34517344", "url": "https://glygen.org/publication/PubMed/34517344" } ] }, { "annotation": "MiR-3929 Inhibits Proliferation and Promotes Apoptosis by Downregulating Cripto-1 Expression in Cervical Cancer Cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001167607", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167607" }, { "database": "PubMed", "id": "34569498", "url": "https://glygen.org/publication/PubMed/34569498" } ] }, { "annotation": "Oncofetal Protein CRIPTO Is Involved in Wound Healing and Fibrogenesis in the Regenerating Liver and Is Associated with the Initial Stages of Cardiac Fibrosis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001167607", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167607" }, { "database": "PubMed", "id": "34943832", "url": "https://glygen.org/publication/PubMed/34943832" } ] }, { "annotation": "This gene encodes an epidermal growth factor-related protein that contains a cripto, FRL-1, and cryptic domain. The encoded protein is an extracellular, membrane-bound signaling protein that plays an essential role in embryonic development and tumor growth. Mutations in this gene are associated with forebrain defects. Pseudogenes of this gene are found on chromosomes 2, 3, 6, 8, 19 and X. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001167607", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167607" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "P13385", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P13385" }, { "id": "rs759659226", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759659226" }, { "id": "rs759659226", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759659226" }, { "id": "rs759659226", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759659226" }, { "id": "rs759659226", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759659226#frequency_tab" }, { "id": "rs759659226", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759659226" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 48, "end_pos": 48, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DDS->NDS).", "chr_id": "3", "chr_pos": "46579285", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D48", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 188, "end_pos": 188, "sequence_org": "Y", "sequence_mut": "YVVVVV", "comment": "Alters the localization and decreases the biological activity.", "evidence": [ { "database": "UniProtKB", "id": "P13385", "url": "https://www.uniprot.org/uniprot/P13385" }, { "database": "PubMed", "id": "18930707", "url": "https://glygen.org/publication/PubMed/18930707" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "79.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000241186", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000241186" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "75.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000241186", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000241186" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "73.39", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000241186", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000241186" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "79.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000241186", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000241186" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "63.85", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000241186", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000241186" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "63.39", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000241186", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000241186" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "57.58", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000241186", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000241186" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "47.87", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000241186", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000241186" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "55.73", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000241186", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000241186" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P13385", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13385" } ], "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, 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"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": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P13385", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13385" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P13385", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13385" } ], "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": 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"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", 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}, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P13385", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13385" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13385" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"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": 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"The head inducer Cerberus is a multifunctional antagonist of Nodal, BMP and Wnt signals.", "journal": "Nature", "date": "1999", "authors": "Piccolo S, Agius E, Leyns L, Bhattacharyya S, Grunz H, Bouwmeester T, De Robertis EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1433617", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1433617" } ], "reference": [ { "type": "PubMed", "id": "10067895", "url": "https://glygen.org/publication/PubMed/10067895" } ] }, { "title": "Prevalent expression of fibroblast growth factor (FGF) receptors and FGF2 in human tumor cell lines.", "journal": "International journal of cancer", "date": "1999", "authors": "Chandler LA, Sosnowski BA, Greenlees L, Aukerman SL, Baird A, Pierce GF", "evidence": [ { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": "10209961", "url": "https://glygen.org/publication/PubMed/10209961" } ] }, { "title": "The role of FAST-1 and Smads in transcriptional regulation by activin during early Xenopus embryogenesis.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Yeo CY, Chen X, Whitman M", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "10473623", "url": "https://glygen.org/publication/PubMed/10473623" } ] }, { "title": "Heterogeneities in the biological and biochemical functions of Smad2 and Smad4 mutants naturally occurring in human lung cancers.", "journal": "Oncogene", "date": "2000", "authors": "Yanagisawa K, Uchida K, Nagatake M, Masuda A, Sugiyama M, Saito T, Yamaki K, Takahashi T, Osada H", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "10822381", "url": "https://glygen.org/publication/PubMed/10822381" } ] }, { "title": "The nuclear import function of Smad2 is masked by SARA and unmasked by TGFbeta-dependent phosphorylation.", "journal": "Nature cell biology", "date": "2000", "authors": "Xu L, Chen YG, Massague J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "10934479", "url": "https://glygen.org/publication/PubMed/10934479" } ] }, { "title": "Nodal signaling uses activin and transforming growth factor-beta receptor-regulated Smads.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Kumar A, Novoselov V, Celeste AJ, Wolfman NM, ten Dijke P, Kuehn MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "11024047", "url": "https://glygen.org/publication/PubMed/11024047" } ] }, { "title": "Transforming growth factor-beta induces nuclear import of Smad3 in an importin-beta1 and Ran-dependent manner.", "journal": "Molecular biology of the cell", "date": "2001", "authors": "Kurisaki A, Kose S, Yoneda Y, Heldin CH, Moustakas A", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "11294908", "url": "https://glygen.org/publication/PubMed/11294908" } ] }, { "title": "Nodal signals to Smads through Cripto-dependent and Cripto-independent mechanisms.", "journal": "Molecular cell", "date": "2001", "authors": "Yeo C, Whitman M", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "11389842", "url": "https://glygen.org/publication/PubMed/11389842" } ] }, { "title": "The orphan receptor ALK7 and the Activin receptor ALK4 mediate signaling by Nodal proteins during vertebrate development.", "journal": "Genes & development", "date": "2001", "authors": "Reissmann E, Jornvall H, Blokzijl A, Andersson O, Chang C, Minchiotti G, Persico MG, Ibanez CF, Brivanlou AH", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "11485994", "url": "https://glygen.org/publication/PubMed/11485994" } ] }, { "title": "SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin.", "journal": "Human molecular genetics", "date": "2001", "authors": "Netzer C, Rieger L, Brero A, Zhang CD, Hinzke M, Kohlhase J, Bohlander SK", "evidence": [ { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": "11751684", "url": 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Recognition of phosphoserine by the MH2 domain and insights on Smad function in TGF-beta signaling.", "journal": "Molecular cell", "date": "2001", "authors": "Wu JW, Hu M, Chai J, Seoane J, Huse M, Li C, Rigotti DJ, Kyin S, Muir TW, Fairman R, Massague J, Shi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "11779503", "url": "https://glygen.org/publication/PubMed/11779503" } ] }, { "title": "Structural basis of Smad1 activation by receptor kinase phosphorylation.", "journal": "Molecular cell", "date": "2001", "authors": "Qin BY, Chacko BM, Lam SS, de Caestecker MP, Correia JJ, Lin K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "11779505", "url": "https://glygen.org/publication/PubMed/11779505" } ] }, { "title": "LIF-induced STAT3 signaling in murine versus human embryonal carcinoma (EC) cells.", "journal": "Experimental cell research", "date": "2002", "authors": "Schuringa JJ, van der Schaaf S, Vellenga E, Eggen BJ, Kruijer W", "evidence": [ { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": "11855863", "url": "https://glygen.org/publication/PubMed/11855863" } ] }, { "title": "Cripto-1 activates nodal- and ALK4-dependent and -independent signaling pathways in mammary epithelial Cells.", "journal": "Molecular and cellular biology", "date": "2002-04", "authors": "Bianco Caterina, Adkins Heather B, Wechselberger Christian, Seno Masaharu, Normanno Nicola, De Luca Antonella, Sun Youping, Khan Nadia, Kenney Nicholas, Ebert Andreas, Williams Kevin P, Sanicola Michele, Salomon David S", "evidence": [ { "database": "UniProtKB", "id": "P13385", "url": "https://www.uniprot.org/uniprot/P13385" } ], "reference": [ { "type": "PubMed", "id": "11909953", "url": "https://glygen.org/publication/PubMed/11909953" } ] }, { "title": "cDNA cloning, expression studies and chromosome mapping of human type I serine/threonine kinase receptor ALK7 (ACVR1C).", "journal": "Cytogenetics and cell genetics", "date": "2001", "authors": "Bondestam J, Huotari MA, Moren A, Ustinov J, Kaivo-Oja N, Kallio J, Horelli-Kuitunen N, Aaltonen J, Fujii M, Moustakas A, Ten Dijke P, Otonkoski T, Ritvos O", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "12063393", "url": "https://glygen.org/publication/PubMed/12063393" } ] }, { "title": "SALL1 expression in the human pituitary-adrenal/gonadal axis.", "journal": "The Journal of endocrinology", "date": "2002", "authors": "Ma Y, Chai L, Cortez SC, Stopa EG, Steinhoff MM, Ford D, Morgan J, Maizel AL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": "12065233", "url": "https://glygen.org/publication/PubMed/12065233" } ] }, { "title": "An extended bipartite nuclear localization signal in Smad4 is required for its nuclear import and transcriptional activity.", "journal": "Oncogene", "date": "2003", "authors": "Xiao Z, Latek R, Lodish HF", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "12592392", "url": "https://glygen.org/publication/PubMed/12592392" } ] }, { "title": "The CRIPTO/FRL-1/CRYPTIC (CFC) domain of human Cripto.", "journal": "Eur. J. Biochem.", "date": "2003", "authors": "Foley Susan F, van Vlijmen Herman W T, Boynton Raymond E, Adkins Heather B, Cheung Anne E, Singh Juswinder, Sanicola Michele, Young Carmen N, Wen Dingyi", "evidence": [ { "database": "UniProtKB", "id": "P13385", "url": "https://www.uniprot.org/uniprot/P13385" } ], "reference": [ { "type": "PubMed", "id": "12919325", "url": "https://glygen.org/publication/PubMed/12919325" } ] }, { "title": "Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.", "journal": "American journal of human genetics", "date": "2004", "authors": "Ware SM, Peng J, Zhu L, Fernbach S, Colicos S, Casey B, Towbin J, Belmont JW", "evidence": [ { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": "14681828", "url": "https://glygen.org/publication/PubMed/14681828" } ] }, { "title": "SB-505124 is a selective inhibitor of transforming growth factor-beta type I receptors ALK4, ALK5, and ALK7.", "journal": "Molecular pharmacology", "date": "2004", "authors": "DaCosta Byfield S, Major C, Laping NJ, Roberts AB", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "14978253", "url": "https://glygen.org/publication/PubMed/14978253" } ] }, { "title": "Two modes by which Lefty proteins inhibit nodal signaling.", "journal": "Current biology : CB", "date": "2004", "authors": "Chen C, Shen MM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1433617", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1433617" } ], "reference": [ { "type": "PubMed", "id": "15062104", "url": "https://glygen.org/publication/PubMed/15062104" } ] }, { "title": "Nodal and ALK7 inhibit proliferation and induce apoptosis in human trophoblast cells.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Munir S, Xu G, Wu Y, Yang B, Lala PK, Peng C", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "15150278", "url": "https://glygen.org/publication/PubMed/15150278" } ] }, { "title": "Maintenance of pluripotency in human embryonic stem cells is STAT3 independent.", "journal": "Stem cells (Dayton, Ohio)", "date": "2004", "authors": "Humphrey RK, Beattie GM, Lopez AD, Bucay N, King CC, Firpo MT, Rose-John S, Hayek A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": "15277698", "url": "https://glygen.org/publication/PubMed/15277698" } ] }, { "title": "Signal peptide prediction based on analysis of experimentally verified cleavage sites.", "journal": "Protein Sci.", "date": "2004", "authors": "Zhang Z, Henzel WJ", "evidence": 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}, { "name": "peptidyl-serine phosphorylation", "id": "GO:0018105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018105", "evidence": [ { "database": "UniProtKB", "id": "P13385", "url": "https://www.uniprot.org/uniprot/P13385" } ], "pmid": "" }, { "name": "cellular response to type II interferon", "id": "GO:0071346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071346", "evidence": [ { "database": "UniProtKB", "id": "P13385", "url": "https://www.uniprot.org/uniprot/P13385" } ], "pmid": "" }, { "name": "cellular response to tumor necrosis factor", "id": "GO:0071356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071356", "evidence": [ { "database": "UniProtKB", "id": "P13385", "url": "https://www.uniprot.org/uniprot/P13385" } ], "pmid": "" }, { "name": "cellular response to epidermal growth factor stimulus", "id": "GO:0071364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071364", "evidence": [ { "database": "UniProtKB", "id": "P13385", "url": 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