{ "uniprot_canonical_ac": "P0CG37-1", "uniprot_ac": "P0CG37", "uniprot_id": "CFC1_HUMAN", "mass": { "chemical_mass": 24612.0, "monoisotopic_mass": 24612.0 }, "refseq": { "ac": "NP_001257349", "name": "cryptic protein isoform 2 precursor", "summary": "This gene encodes a member of the epidermal growth factor (EGF)- Cripto, Frl-1, and Cryptic (CFC) family, which are involved in signalling during embryonic development. Proteins in this family share a variant EGF-like motif, a conserved cysteine-rich domain, and a C-terminal hydrophobic region. The protein encoded by this gene is necessary for patterning the left-right embryonic axis. Mutations in this gene are associated with defects in organ development, including autosomal visceral heterotaxy and congenital heart disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257349" }, "gene_names": [ { "name": "CFC1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P0CG37", "id": "P0CG37" }, { "name": "CFC1B; CRYPTIC; DTGA2; HTX2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257349", "id": "NP_001257349" }, { "name": "CFC1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257349", "id": "NP_001257349" } ], "protein_names": [ { "name": "Cryptic protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P0CG37" }, { "name": "Cryptic family protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P0CG37" }, { "name": "cryptic family protein 1; heterotaxy 2 (autosomal dominant); cripto, FRL-1, cryptic family 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257349", "id": "NP_001257349" }, { "name": "cryptic protein isoform 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257349", "id": "NP_001257349" } ], "function": [ { "annotation": "CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle", "evidence": [ { "database": "RefSeq", "id": "NP_001257349", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257349" }, { "database": "PubMed", "id": "11799476", "url": "https://glygen.org/publication/PubMed/11799476" } ] }, { "annotation": "Data indicate that the duplication and deletion of CFC1 protein may play key roles in the occurrence of heterotaxy syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_001257349", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257349" }, { "database": "PubMed", "id": "25423076", "url": "https://glygen.org/publication/PubMed/25423076" } ] }, { "annotation": "Enhances macrophage phagocytic activity and upregulates the production of anti- and pro-inflammatory cytokines via the NF-kappaB signaling pathway", "evidence": [ { "database": "RefSeq", "id": "NP_001257349", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257349" }, { "database": "PubMed", "id": "26476731", "url": "https://glygen.org/publication/PubMed/26476731" } ] }, { "annotation": "NODAL coreceptor involved in the correct establishment of the left-right axis. May play a role in mesoderm and/or neural patterning during gastrulation.", "evidence": [ { "database": "UniProtKB", "id": "P0CG37", "url": "https://www.uniprot.org/uniprot/P0CG37#function" }, { "database": "PubMed", "id": "11062482", "url": "https://glygen.org/publication/PubMed/11062482" } ] }, { "annotation": "Results demonstrated that over expression of Snail suppresses Cryptic expression and confirmed that Snail directly binds to Cryptic gene promoter and regulates its expression. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001257349", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257349" }, { "database": "PubMed", "id": "27793090", "url": "https://glygen.org/publication/PubMed/27793090" } ] }, { "annotation": "The knockdown and overexpression of CFC1 were performed using a lentiviral system in NB cell lines. The overexpression of CFC1 increased sphere formation, cell growth, and colony formation.", "evidence": [ { "database": "RefSeq", "id": "NP_001257349", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257349" }, { "database": "PubMed", "id": "28620148", "url": "https://glygen.org/publication/PubMed/28620148" } ] }, { "annotation": "This gene encodes a member of the epidermal growth factor (EGF)- Cripto, Frl-1, and Cryptic (CFC) family, which are involved in signalling during embryonic development. Proteins in this family share a variant EGF-like motif, a conserved cysteine-rich domain, and a C-terminal hydrophobic region. The protein encoded by this gene is necessary for patterning the left-right embryonic axis. Mutations in this gene are associated with defects in organ development, including autosomal visceral heterotaxy and congenital heart disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_001257349", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257349" } ] } ], "disease": [ { "disease_id": "DOID:0050545", "recommended_name": { "id": "DOID:0050545", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050545", "name": "visceral heterotaxy", "description": "A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen." }, "synonyms": [ { "id": "DOID:0050545", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050545", "name": "heterotaxia", "description": "" }, { "id": "DOID:0050545", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050545", "name": "situs ambiguus", "description": "" }, { "id": "MONDO:0011546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011546", "name": "heterotaxy, visceral, 2, autosomal", "description": "" }, { "id": "MONDO:0011546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011546", "name": "DTGA2", "description": "" }, { "id": "MONDO:0011546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011546", "name": "heterotaxy, visceral, 2, autosomal", "description": "" }, { "id": "MONDO:0011546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011546", "name": "transposition of the great arteries, dextro-looped 2", "description": "" }, { "id": "MONDO:0011546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011546", "name": "HTX2", "description": "" }, { "id": "MONDO:0011546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011546", "name": "Htx", "description": "" }, { "id": "MONDO:0011659", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011659", "name": "heterotaxy, visceral, 3, autosomal", "description": "" }, { "id": "MONDO:0011659", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011659", "name": "HTX3", "description": "" }, { "id": "MONDO:0011659", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011659", "name": "heterotaxy, visceral, 3, autosomal", "description": "" }, { "id": "MONDO:0010607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010607", "name": "heterotaxy, visceral, 1, X-linked", "description": "X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen in males. Physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis ; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia).Affected individualscan also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly, myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus. Heterotaxia with recurrent respiratory infections are called primary ciliary dyskinesia." }, { "id": "MONDO:0010607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010607", "name": "ZIC3 visceral heterotaxy", "description": "" }, { "id": "MONDO:0010607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010607", "name": "congenital heart defects, nonsyndromic, 1, X-linked, X-linked recessive", "description": "" }, { "id": "MONDO:0010607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010607", "name": "heterotaxy, visceral, 1, X-linked", "description": "" }, { "id": "MONDO:0010607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010607", "name": "heterotaxy, visceral, 1, X-linked, X-linked recessive", "description": "" }, { "id": "MONDO:0010607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010607", "name": "visceral heterotaxy caused by mutation in ZIC3", "description": "" }, { "id": "MONDO:0010607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010607", "name": "HTX1", "description": "" }, { "id": "MONDO:0010607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010607", "name": "X-linked visceral heterotaxy 1", "description": "" }, { "id": "MONDO:0010607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010607", "name": "congenital heart defects, multiple types, 1, X-linked", "description": "" }, { "id": "MONDO:0010607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010607", "name": "dextrocardia with Other Cardiac malformations", "description": "" }, { "id": "MONDO:0010607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010607", "name": "heterotaxy, visceral, X-linked", "description": "" }, { "id": "MONDO:0010607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010607", "name": "laterality, X-linked", "description": "" }, { "id": "MONDO:0010607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010607", "name": "situs inversus, Complex Cardiac defects, and splenic defects, X-linked", "description": "" }, { "id": "MONDO:0013887", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013887", "name": "heterotaxy, visceral, 6, autosomal", "description": "" }, { "id": "MONDO:0013887", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013887", "name": "heterotaxy, visceral, 6, autosomal", "description": "" }, { "id": "MONDO:0013887", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013887", "name": "heterotaxy, visceral, 6, autosomal recessive", "description": "" }, { "id": "MONDO:0013887", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013887", "name": "HTX6", "description": "" }, { "id": "MONDO:0013403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013403", "name": "heterotaxy, visceral, 4, autosomal", "description": "Any visceral heterotaxy in which the cause of the disease is a mutation in the ACVR2B gene." }, { "id": "MONDO:0013403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013403", "name": "ACVR2B visceral heterotaxy", "description": "" }, { "id": "MONDO:0013403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013403", "name": "heterotaxy, visceral, 4, autosomal", "description": "" }, { "id": "MONDO:0013403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013403", "name": "visceral heterotaxy caused by mutation in ACVR2B", "description": "" }, { "id": "MONDO:0013403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013403", "name": "HTX4", "description": "" }, { "id": "MIM:605376", "resource": "MIM", "url": "https://www.omim.org/entry/605376", "name": "Heterotaxy, visceral, 2, autosomal", "description": "Heterotaxy, visceral, 2, autosomal" }, { "id": "MIM:306955", "resource": "MIM", "url": "https://www.omim.org/entry/306955", "name": "Heterotaxy, visceral, 1, X-linked", "description": "Heterotaxy, visceral, 1, X-linked" }, { "id": "MIM:614779", "resource": "MIM", "url": "https://www.omim.org/entry/614779", "name": "Heterotaxy, visceral, 6, autosomal", "description": "Heterotaxy, visceral, 6, autosomal" }, { "id": "MIM:613751", "resource": "MIM", "url": "https://www.omim.org/entry/613751", "name": "Heterotaxy, visceral, 4, autosomal", "description": "Heterotaxy, visceral, 4, autosomal" } ], "evidence": [ { "id": "605376", "database": "MIM", "url": "https://www.omim.org/entry/605376" } ] } ], "snv": [ { "evidence": [ { "id": "rs771034162", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771034162" }, { "id": "rs771034162", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771034162" }, { "id": "rs771034162", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771034162#frequency_tab" }, { "id": "rs771034162", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771034162" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 54, "end_pos": 54, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TSS->NSS); n-glyco-sequon-loss (NWT->NWN).", "chr_id": "2", "chr_pos": "130598728", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T54", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P0CG37", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P0CG37" }, { "id": "rs752487360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752487360" }, { "id": "rs752487360", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752487360" }, { "id": "rs752487360", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752487360" }, { "id": "rs752487360", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752487360#frequency_tab" }, { "id": "rs752487360", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752487360" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 34, "end_pos": 34, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NGG->NGS).", "chr_id": "2", "chr_pos": "130598789", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G34", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] }, { "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P0CG37", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P0CG37" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 52, "end_pos": 52, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NWT->KWT).", "chr_id": "2", "chr_pos": "130598733", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "N52", "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" ] }, { "evidence": [ { "id": "rs774353607", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774353607" }, { "id": "rs774353607", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774353607" }, { "id": "rs774353607", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774353607#frequency_tab" }, { "id": "rs774353607", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774353607" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 54, "end_pos": 54, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NWT->NWA).", "chr_id": "2", "chr_pos": "130598729", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T54", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771034162", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771034162" }, { "id": "rs771034162", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771034162" }, { "id": "rs771034162", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771034162#frequency_tab" }, { "id": "rs771034162", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771034162" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 54, "end_pos": 54, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NWT->NWI).", "chr_id": "2", "chr_pos": "130598728", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T54", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 191, "end_pos": 223, "sequence_org": "LRPDAPAHPRSLVPSVLQRERRPCGRPGLGHRL", "sequence_mut": "VVVVV", "comment": "Does not affect the cellular localization and the biological activity.", "evidence": [ { "database": "UniProtKB", "id": "P0CG37", "url": "https://www.uniprot.org/uniprot/P0CG37" } ] }, { "start_pos": 191, "end_pos": 223, "sequence_org": "LRPDAPAHPRSLVPSVLQRERRPCGRPGLGHRL", "sequence_mut": "", "comment": "Increased NODAL dependent signaling.", "evidence": [ { "database": "UniProtKB", "id": "P0CG37", "url": "https://www.uniprot.org/uniprot/P0CG37" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "42.13", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000136698", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136698" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "75.72", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136698", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136698" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000136698", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136698" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "46.49", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136698", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136698" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "38.22", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000136698", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136698" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "31.74", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000136698", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136698" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "16.88", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000136698", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136698" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "79.17", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136698", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136698" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "24.56", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000136698", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136698" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P0CG37", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0CG37" } ], "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": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P0CG37", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0CG37" } ], "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": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P0CG37", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0CG37" } ], "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": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P0CG37", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0CG37" } ], "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": "No", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P0CG37", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0CG37" } ], "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": "No", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P0CG37", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0CG37" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P0CG37", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0CG37" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P0CG37", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0CG37" } ], "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": "P0CG37", "url": "https://www.uniprot.org/uniprot/P0CG37" } ], "common_name": "Human" } ], "gene": [ { "name": "CFC1", "url": "https://www.uniprot.org/uniprot/P0CG37", "locus": { "chromosome": "2", "start_pos": 130592165, "end_pos": 130599575, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000136698", "url": "https://www.ensembl.org/id/ENSG00000136698" } ] } } ], "crossref": [ { "id": "ENSG00000136698", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136698", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P0CG37", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P0CG37", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd00054", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00054", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CFC1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFC1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "55997", "url": "https://www.ncbi.nlm.nih.gov/gene/55997", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "18292", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18292", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "IPR000742", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000742", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR019011", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019011", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:55997", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:55997", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "605194", "url": "http://www.omim.org/entry/605194", "database": "MIM", "categories": [ "Other" ] }, { "id": "605376", "url": "http://www.omim.org/entry/605376", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P0CG37", "url": "https://www.nextprot.org/entry/NX_P0CG37", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "CLSEIMH", "url": "https://omabrowser.org/oma/group/CLSEIMH/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2970545at2759", "url": "http://www.orthodb.org/?query=2970545at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR14949", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14949", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR14949:SF25", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14949:SF25", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF09443", "url": "http://pfam.xfam.org/family/PF09443", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P0CG37", "url": "https://pharos.nih.gov/targets/P0CG37", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P0CG37", "url": "http://purl.obolibrary.org/obo/PR_P0CG37", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-1433617", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1433617", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001257349", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257349", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A087WWV2", "url": "https://www.uniprot.org/uniprot/A0A087WWV2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WWV2-1", "url": "https://www.uniprot.org/uniprot/A0A087WWV2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WX98", "url": "https://www.uniprot.org/uniprot/A0A087WX98", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WX98-1", "url": "https://www.uniprot.org/uniprot/A0A087WX98-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P0CG37", "url": "https://www.uniprot.org/uniprot/P0CG37", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P0CG37-1", "url": "https://www.uniprot.org/uniprot/P0CG37-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MTWRHHVRLLFTVSLALQIINLGNSYQREKHNGGREEVTKVATQKHRQSPLNWTSSHFGEVTGSAEGWGPEEPLPYSRAFGEGASARPRCCRNGGTCVLGSFCVCPAHFTGRYCEHDQRRSECGALEHGAWTLRACHLCRCIFGALHCLPLQTPDRCDPKDFLASHAHGPSAGGAPSLLLLLPCALLHRLLRPDAPAHPRSLVPSVLQRERRPCGRPGLGHRL", "length": 223, "header": "sp|P0CG37-1|CFC1_HUMAN Isoform 1 of Cryptic protein OS=Homo sapiens OX=9606 GN=CFC1 PE=1 SV=1 CANONICAL=P0CG37-1" }, "isoforms": [ { "isoform_ac": "A0A087WWV2-1", "url": "", "sequence": { "sequence": "MTWRHHVRLLFTVSLALQIINLGNSYQREKHNGGREEVTKVATQKHRQSPLNWTSSHFGEVTGSAEGWGPEEPLPYSRAFGEVNAAPWSTEPGPSAPATSAGASSGPCTASPSRRLTAVTRKTSWPPTLTGRAPGARPACYSCCPAHSCTASCARMRPRTLGPWSLPSSSGSGAPAEGRDLGIAFNFLCCK", "length": 191, "header": "tr|A0A087WWV2-1|A0A087WWV2_HUMAN Computationally mapped isoform of Cripto, FRL-1, cryptic family 1 OS=Homo sapiens OX=9606 GN=CFC1 PE=4 SV=1 CANONICAL=P0CG37-1" }, "locus": { "chromosome": "2", "start_pos": 130599287, "end_pos": 130592861, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000615342.4", "url": "https://www.ensembl.org/id/ENST00000615342.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000480526.1", "url": "https://www.ensembl.org/id/ENSP00000480526.1" } ] } }, { "isoform_ac": "A0A087WX98-1", "url": "", "sequence": { "sequence": "MTWRHHVRLLFTVSLALQIINLGNSYQREKHNGGREEVTKVATQKHRQSPLNWTSSHFGEVTGSAEGWGPEEPLPYSRAFGEDPKDFLASHAHGPSAGGAPSLLLLLPCALLHRLLRPDAPAHPRSLVPSVLQRERRPCGRPGLGHRL", "length": 148, "header": "tr|A0A087WX98-1|A0A087WX98_HUMAN Computationally mapped isoform of Cripto, FRL-1, cryptic family 1 OS=Homo sapiens OX=9606 GN=CFC1 PE=4 SV=1 CANONICAL=P0CG37-1" }, "locus": { "chromosome": "2", "start_pos": 130599287, "end_pos": 130592880, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000621673.4", "url": "https://www.ensembl.org/id/ENST00000621673.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000480843.1", "url": "https://www.ensembl.org/id/ENSP00000480843.1" } ] } }, { "isoform_ac": "P0CG37-1", "url": "", "sequence": { "sequence": "MTWRHHVRLLFTVSLALQIINLGNSYQREKHNGGREEVTKVATQKHRQSPLNWTSSHFGEVTGSAEGWGPEEPLPYSRAFGEGASARPRCCRNGGTCVLGSFCVCPAHFTGRYCEHDQRRSECGALEHGAWTLRACHLCRCIFGALHCLPLQTPDRCDPKDFLASHAHGPSAGGAPSLLLLLPCALLHRLLRPDAPAHPRSLVPSVLQRERRPCGRPGLGHRL", "length": 223, "header": "sp|P0CG37-1|CFC1_HUMAN Isoform 1 of Cryptic protein OS=Homo sapiens OX=9606 GN=CFC1 PE=1 SV=1 CANONICAL=P0CG37-1" }, "locus": { "chromosome": "2", "start_pos": 130599287, "end_pos": 130592880, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000259216.6", "url": "https://www.ensembl.org/id/ENST00000259216.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000259216.5", "url": "https://www.ensembl.org/id/ENSP00000259216.5" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 52, "start_aa": "Asn", "end_pos": 52, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn52", "evidence": [ { "id": "P0CG37", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0CG37#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "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": "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": "Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects.", "journal": "Nature genetics", "date": "2000", "authors": "Bamford RN, Roessler E, Burdine RD, Saplakoglu U, dela Cruz J, Splitt M, Goodship JA, Towbin J, Bowers P, Ferrero GB, Marino B, Schier AF, Shen MM, Muenke M, Casey B", "evidence": [ { "database": "UniProtKB", "id": "P0CG37", "url": "https://www.uniprot.org/uniprot/P0CG37" } ], "reference": [ { "type": "PubMed", "id": "11062482", "url": "https://glygen.org/publication/PubMed/11062482" } ] }, { "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": "Crystal structure of a phosphorylated Smad2. 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": "CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle.", "journal": "Am. J. Hum. Genet.", "date": "2002", "authors": "Goldmuntz E, Bamford R, Karkera JD, dela Cruz J, Roessler E, Muenke M", "evidence": [ { "database": "UniProtKB", "id": "P0CG37", "url": "https://www.uniprot.org/uniprot/P0CG37" }, { "database": "RefSeq", "id": "NP_001257349", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257349" } ], "reference": [ { "type": "PubMed", "id": "11799476", "url": "https://glygen.org/publication/PubMed/11799476" } ] }, { "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": "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": "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": "Structural basis of heteromeric smad protein assembly in TGF-beta signaling.", "journal": "Molecular cell", "date": "2004", "authors": "Chacko BM, Qin BY, Tiwari A, Shi G, Lam S, Hayward LJ, De Caestecker M, Lin K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "15350224", "url": "https://glygen.org/publication/PubMed/15350224" } ] }, { "title": "ALK7, a receptor for nodal, is dispensable for embryogenesis and left-right patterning in the mouse.", "journal": "Molecular and cellular biology", "date": "2004", "authors": "Jornvall H, Reissmann E, Andersson O, Mehrkash M, Ibanez CF", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "15485907", "url": "https://glygen.org/publication/PubMed/15485907" } ] }, { "title": "Nodal induces apoptosis and inhibits proliferation in human epithelial ovarian cancer cells via activin receptor-like kinase 7.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2004", "authors": "Xu G, Zhong Y, Munir S, Yang BB, Tsang BK, Peng C", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "15531507", "url": "https://glygen.org/publication/PubMed/15531507" } ] }, { "title": "Kinetic analysis of Smad nucleocytoplasmic shuttling reveals a mechanism for transforming growth factor beta-dependent nuclear accumulation of Smads.", "journal": "Molecular and cellular biology", "date": "2005", "authors": "Schmierer B, Hill CS", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "16260601", "url": "https://glygen.org/publication/PubMed/16260601" } ] }, { "title": "Endofin, a FYVE domain protein, interacts with Smad4 and facilitates transforming growth factor-beta signaling.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Chen YG, Wang Z, Ma J, Zhang L, Lu Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "17272273", "url": "https://glygen.org/publication/PubMed/17272273" } ] }, { "title": "Characterization of the glycosylphosphatidylinositol-anchor signal sequence of human Cryptic with a hydrophilic extension.", "journal": "Biochim. Biophys. Acta", "date": "2008", "authors": "Watanabe K, Nagaoka T, Strizzi L, Mancino M, Gonzales M, Bianco C, Salomon DS", "evidence": [ { "database": "UniProtKB", "id": "P0CG37", "url": "https://www.uniprot.org/uniprot/P0CG37" } ], "reference": [ { "type": "PubMed", "id": "18930707", "url": "https://glygen.org/publication/PubMed/18930707" } ] }, { "title": "Nucleocytoplasmic shuttling of Smad proteins.", "journal": "Cell research", "date": "2009", "authors": "Hill CS", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "19114992", "url": "https://glygen.org/publication/PubMed/19114992" } ] }, { "title": "Coupling of dephosphorylation and nuclear export of Smads in TGF-beta signaling.", "journal": "Methods in molecular biology (Clifton, N.J.)", "date": "2010", "authors": "Dai F, Duan X, Liang YY, Lin X, Feng XH", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "20694664", "url": "https://glygen.org/publication/PubMed/20694664" } ] }, { "title": "missing tag=TI", "journal": "missing tag=JT", "date": "missing", "authors": "author information missing", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "21229555", "url": "https://glygen.org/publication/PubMed/21229555" } ] }, { "title": "Nodal signals through activin receptor-like kinase 7 to inhibit trophoblast migration and invasion: implication in the pathogenesis of preeclampsia.", "journal": "The American journal of pathology", "date": "2011", "authors": "Nadeem L, Munir S, Fu G, Dunk C, Baczyk D, Caniggia I, Lye S, Peng C", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "21356369", "url": "https://glygen.org/publication/PubMed/21356369" } ] }, { "title": "Nodal and activin receptor-like kinase 7 induce apoptosis in human breast cancer cell lines: Role of caspase 3.", "journal": "International journal of physiology, pathophysiology and pharmacology", "date": "2009", "authors": "Zhong Y, Xu G, Ye G, Lee D, Modica-Amore J, Peng C", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "21383881", "url": "https://glygen.org/publication/PubMed/21383881" } ] }, { "title": "Nodal enhances the activity of FoxO3a and its synergistic interaction with Smads to regulate cyclin G2 transcription in ovarian cancer cells.", "journal": "Oncogene", "date": "2011", "authors": "Fu G, Peng C", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "21532621", "url": "https://glygen.org/publication/PubMed/21532621" } ] }, { "title": "Duplication and deletion of CFC1 associated with heterotaxy syndrome.", "journal": "DNA and cell biology", "date": "2015", "authors": "Cao R, Long F, Wang L, Xu Y, Guo Y, Li F, Chen S, Sun K, Xu R", "evidence": [ { "database": "RefSeq", "id": "NP_001257349", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257349" } ], "reference": [ { "type": "PubMed", "id": "25423076", "url": "https://glygen.org/publication/PubMed/25423076" } ] }, { "title": "Human Cerberus prevents nodal-receptor binding, inhibits nodal signaling, and suppresses nodal-mediated phenotypes.", "journal": "PloS one", "date": "2015", "authors": "Aykul S, Ni W, Mutatu W, Martinez-Hackert E", "evidence": [ { "database": "Reactome", "id": "R-HSA-1433617", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1433617" } ], "reference": [ { "type": "PubMed", "id": "25603319", "url": "https://glygen.org/publication/PubMed/25603319" } ] }, { "title": "Cripto-1 modulates macrophage cytokine secretion and phagocytic activity via NF-kappaB signaling.", "journal": "Immunologic research", "date": "2016", "authors": "Zhang DM, Bao YL, Yu CL, Wang YM, Song ZB", "evidence": [ { "database": "RefSeq", "id": "NP_001257349", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257349" } ], "reference": [ { "type": "PubMed", "id": "26476731", "url": "https://glygen.org/publication/PubMed/26476731" } ] }, { "title": "Left-right axis asymmetry determining human Cryptic gene is transcriptionally repressed by Snail.", "journal": "BMC developmental biology", "date": "2016", "authors": "Gupta K, Pilli VS, Aradhyam GK", "evidence": [ { "database": "RefSeq", "id": "NP_001257349", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257349" } ], "reference": [ { "type": "PubMed", "id": "27793090", "url": "https://glygen.org/publication/PubMed/27793090" } ] }, { "title": "CFC1 is a cancer stemness-regulating factor in neuroblastoma.", "journal": "Oncotarget", "date": "2017", "authors": "Chikaraishi K, Takenobu H, Sugino RP, Mukae K, Akter J, Haruta M, Kurosumi M, Endo TA, Koseki H, Shimojo N, Ohira M, Kamijo T", "evidence": [ { "database": "RefSeq", "id": "NP_001257349", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257349" } ], "reference": [ { "type": "PubMed", "id": "28620148", "url": "https://glygen.org/publication/PubMed/28620148" } ] }, { "title": "A transcriptional partner for MAD proteins in TGF-beta signalling.", "journal": "Nature", "date": "1996", "authors": "Chen X, Rubock MJ, Whitman M", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "8878477", "url": "https://glygen.org/publication/PubMed/8878477" } ] }, { "title": "Smad4 and FAST-1 in the assembly of activin-responsive factor.", "journal": "Nature", "date": "1997", "authors": "Chen X, Weisberg E, Fridmacher V, Watanabe M, Naco G, Whitman M", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "9288972", "url": "https://glygen.org/publication/PubMed/9288972" } ] }, { "title": "TGF-beta receptor-mediated signalling through Smad2, Smad3 and Smad4.", "journal": "The EMBO journal", "date": "1997", "authors": "Nakao A, Imamura T, Souchelnytskyi S, Kawabata M, Ishisaki A, Oeda E, Tamaki K, Hanai J, Heldin CH, Miyazono K, ten Dijke P", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "9311995", "url": "https://glygen.org/publication/PubMed/9311995" } ] }, { "title": "Smad proteins exist as monomers in vivo and undergo homo- and hetero-oligomerization upon activation by serine/threonine kinase receptors.", "journal": "The EMBO journal", "date": "1998", "authors": "Kawabata M, Inoue H, Hanyu A, Imamura T, Miyazono K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "9670020", "url": "https://glygen.org/publication/PubMed/9670020" } ] }, { "title": "Characterization of human FAST-1, a TGF beta and activin signal transducer.", "journal": "Molecular cell", "date": "1998", "authors": "Zhou S, Zawel L, Lengauer C, Kinzler KW, Vogelstein B", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "9702198", "url": "https://glygen.org/publication/PubMed/9702198" } ] } ], "pathway": [ { "id": "hsa:55997", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:55997", "resource": "KEGG Pathway" }, { "id": "R-HSA-1181150", "name": "Signaling by NODAL", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150", "resource": "Reactome", "description": "Signaling by NODAL" }, { "id": "R-HSA-1433617", "name": "Regulation of signaling by NODAL", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1433617", "resource": "Reactome", "description": "Regulation of signaling by NODAL" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8I6GC89-1", "protein_name": "Cripto, FRL-1, cryptic family 1", "gene_name": "Cfc1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MRGNSATQGVGLKTNGARPLFLMTVALQLIRPGNSYQREGDGAREISYLLSPKLPGTTLDGTLSSSSRKNDSQEGAHPSEALSGSNTLEESAVPGSRCCHNGGTCVLGSFCVCPAHFTGRYCEHDQRHRDCGALGHGAWTLHSCRLCRCIFSALYCLPRQTFSHCDLKSFLSSGARGSRACSIPRLLLLVLCLLLQVVCGW", "length": 201 }, "evidence": [ { "id": "45933335", "url": "http://www.informatics.jax.org/homology/45933335", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P0CG36-1", "protein_name": "Cryptic family protein 1B", "gene_name": "CFC1B", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MTWRHHVRLLFTVSLALQIINLGNSYQREKHNGGREEVTKVATQKHRQSPLNWTSSHFGEVTGSAEGWGPEEPLPYSWAFGEGASARPRCCRNGGTCVLGSFCVCPAHFTGRYCEHDQRRSECGALEHGAWTLRACHLCRCIFGALHCLPLQTPDRCDPKDFLASHAHGPSAGGAPSLLLLLPCALLHRLLRPDAPAHPRSLVPSVLQRERRPCGRPGLGHRL", "length": 223 }, "evidence": [ { "id": "45933335", "url": "http://www.informatics.jax.org/homology/45933335", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "P97766-1", "protein_name": "Cryptic protein", "gene_name": "Cfc1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MRANSPTQGISLKMHQARPLFLVTVALQLIGLGYSYQSEGDGAREVSNILSPVIPGTTLDRTLSNSSRKNDIPEGARLWDSLPDSSTLGESAVPVSRCCHNGGTCVLGSFCVCPAYFTGRYCEHDQRRRDCGALGHGAWTLHSCRLCRCIFSALYCLPHQTFSHCDLKSFLSSGARGSRECSIPSLLLLVLCLLLQGVAGKG", "length": 202 }, "evidence": [ { "id": "45933335", "url": "http://www.informatics.jax.org/homology/45933335", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "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": "P0CG37", "url": "https://www.uniprot.org/uniprot/P0CG37" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P0CG37", "url": "https://www.uniprot.org/uniprot/P0CG37" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P0CG37", "url": "https://www.uniprot.org/uniprot/P0CG37" } ], "pmid": "" }, { "name": "side of membrane", "id": "GO:0098552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098552", "evidence": [ { "database": "UniProtKB", "id": "P0CG37", "url": "https://www.uniprot.org/uniprot/P0CG37" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P0CG37", "url": "https://www.uniprot.org/uniprot/P0CG37" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "P0CG37", "url": "https://www.uniprot.org/uniprot/P0CG37" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "P0CG37", "url": "https://www.uniprot.org/uniprot/P0CG37" } ], "pmid": "" }, { "name": "nodal signaling pathway", "id": "GO:0038092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038092", "evidence": [ { "database": "UniProtKB", "id": "P0CG37", "url": "https://www.uniprot.org/uniprot/P0CG37" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "P0CG37", "url": "https://www.uniprot.org/uniprot/P0CG37" } ], "pmid": "" }, { "name": "gastrulation", "id": "GO:0007369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007369", "evidence": [ { "database": "UniProtKB", "id": "P0CG37", "url": "https://www.uniprot.org/uniprot/P0CG37" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "nodal binding", "id": "GO:0038100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038100", "evidence": [ { "database": "UniProtKB", "id": "P0CG37", "url": "https://www.uniprot.org/uniprot/P0CG37" } ], "pmid": "" }, { "name": "activin receptor binding", "id": "GO:0070697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070697", "evidence": [ { "database": "UniProtKB", "id": "P0CG37", "url": "https://www.uniprot.org/uniprot/P0CG37" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 52, "end_pos": 54, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 52 ], "o_linked_sites": [], "snv_sites": [ 34, 52, 54 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 52, "end_pos": 54 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "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", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 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_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "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_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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 39 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }