{ "uniprot_canonical_ac": "O00744-1", "uniprot_ac": "O00744", "uniprot_id": "WN10B_HUMAN", "mass": { "chemical_mass": 43000.0, "monoisotopic_mass": 43000.0 }, "refseq": { "ac": "NP_003385", "name": "protein Wnt-10b precursor", "summary": "The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It may be involved in breast cancer, and its protein signaling is likely a molecular switch that governs adipogenesis. This protein is 96% identical to the mouse Wnt10b protein at the amino acid level. This gene is clustered with another family member, WNT1, in the chromosome 12q13 region. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003385" }, "gene_names": [ { "name": "WNT10B", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00744", "id": "O00744" }, { "name": "SHFM6; STHAG8; WNT-12", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003385", "id": "NP_003385" }, { "name": "WNT10B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003385", "id": "NP_003385" }, { "name": "WNT12", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00744", "id": "O00744" } ], "protein_names": [ { "name": "Protein Wnt-10b", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00744" }, { "name": "Protein Wnt-12", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00744" }, { "name": "WNT-10B protein; protein Wnt-10b; wingless-type MMTV integration site family, member 10B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003385", "id": "NP_003385" }, { "name": "protein Wnt-10b precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003385", "id": "NP_003385" } ], "function": [ { "annotation": "FZD6 triggers Wnt-signalling driven by WNT10B(IVS1) expression and highlights new targets in T-cell acute lymphoblastic leukemia.", "evidence": [ { "database": "RefSeq", "id": "NP_003385", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003385" }, { "database": "PubMed", "id": "33497493", "url": "https://glygen.org/publication/PubMed/33497493" } ] }, { "annotation": "Functional characterization of ATF1, GREM2 AND WNT10B variants associated with tooth agenesis.", "evidence": [ { "database": "RefSeq", "id": "NP_003385", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003385" }, { "database": "PubMed", "id": "33369218", "url": "https://glygen.org/publication/PubMed/33369218" } ] }, { "annotation": "Ligand for members of the frizzled family of seven transmembrane receptors.", "evidence": [ { "database": "UniProtKB", "id": "B5MCC8", "url": "https://www.uniprot.org/uniprot/B5MCC8#function" }, { "database": "UniProtKB", "id": "RU003500", "url": "https://www.uniprot.org/uniprot/RU003500#function" }, { "database": "UniProtKB", "id": "C9JCI2", "url": "https://www.uniprot.org/uniprot/C9JCI2#function" }, { "database": "UniProtKB", "id": "C9J3H3", "url": "https://www.uniprot.org/uniprot/C9J3H3#function" } ] }, { "annotation": "LncRNA HOTAIRM1 regulates cell proliferation and the metastasis of thyroid cancer by targeting Wnt10b.", "evidence": [ { "database": "RefSeq", "id": "NP_003385", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003385" }, { "database": "PubMed", "id": "33650656", "url": "https://glygen.org/publication/PubMed/33650656" } ] }, { "annotation": "Member of the Wnt ligand gene family that encodes for secreted proteins, which activate the Wnt signaling cascade. Specifically activates canonical Wnt/beta-catenin signaling and thus triggers beta-catenin/LEF/TCF-mediated transcriptional programs. Involved in signaling networks controlling stemness, pluripotency and cell fate decisions. Acts in the immune system, mammary gland, adipose tissue, bone and skin.", "evidence": [ { "database": "UniProtKB", "id": "O00744", "url": "https://www.uniprot.org/uniprot/O00744#function" }, { "database": "PubMed", "id": "27321946", "url": "https://glygen.org/publication/PubMed/27321946" }, { "database": "PubMed", "id": "16477437", "url": "https://glygen.org/publication/PubMed/16477437" }, { "database": "PubMed", "id": "21447090", "url": "https://glygen.org/publication/PubMed/21447090" } ] }, { "annotation": "Possible role of WNT10B in increased proliferation and tubule formation of human umbilical vein endothelial cell cultures treated with hypoxic conditioned medium from human adipocytes.", "evidence": [ { "database": "RefSeq", "id": "NP_003385", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003385" }, { "database": "PubMed", "id": "34044678", "url": "https://glygen.org/publication/PubMed/34044678" } ] }, { "annotation": "The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It may be involved in breast cancer, and its protein signaling is likely a molecular switch that governs adipogenesis. This protein is 96% identical to the mouse Wnt10b protein at the amino acid level. This gene is clustered with another family member, WNT1, in the chromosome 12q13 region. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_003385", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003385" } ] } ], "disease": [ { "disease_id": "DOID:0090026", "recommended_name": { "id": "DOID:0090026", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090026", "name": "split hand-foot malformation 6", "description": "A split-hand/foot malformation that has_material_basis_in homozygous mutation in the WNT10B gene on chromosome 12q13." }, "synonyms": [ { "id": "DOID:0090026", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090026", "name": "SHFM6", "description": "" }, { "id": "MONDO:0009157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009157", "name": "split hand-foot malformation 6", "description": "Any split hand-foot malformation in which the cause of the disease is a mutation in the WNT10B gene." }, { "id": "MONDO:0009157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009157", "name": "SHFM6", "description": "" }, { "id": "MONDO:0009157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009157", "name": "WNT10B split hand-foot malformation", "description": "" }, { "id": "MONDO:0009157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009157", "name": "split hand-foot malformation caused by mutation in WNT10B", "description": "" }, { "id": "MONDO:0009157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009157", "name": "split hand-foot malformation type 6", "description": "" }, { "id": "MONDO:0009157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009157", "name": "split-hand/foot malformation type 6", "description": "" }, { "id": "MONDO:0009157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009157", "name": "ectrodactyly, autosomal recessive", "description": "" }, { "id": "MONDO:0009157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009157", "name": "split-hand/foot malformation 6", "description": "" }, { "id": "MIM:225300", "resource": "MIM", "url": "https://www.omim.org/entry/225300", "name": "Split-hand/foot malformation 6", "description": "Split-hand/foot malformation 6" } ], "evidence": [ { "id": "225300", "database": "MIM", "url": "https://www.omim.org/entry/225300" } ] }, { "disease_id": "MONDO:0014901", "recommended_name": { "id": "MONDO:0014901", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014901", "name": "tooth agenesis, selective, 8", "description": "Any tooth agenesis in which the cause of the disease is a mutation in the WNT10B gene." }, "synonyms": [ { "id": "MONDO:0014901", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014901", "name": "STHAG8", "description": "" }, { "id": "MONDO:0014901", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014901", "name": "WNT10B tooth agenesis", "description": "" }, { "id": "MONDO:0014901", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014901", "name": "tooth agenesis caused by mutation in WNT10B", "description": "" }, { "id": "MONDO:0014901", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014901", "name": "tooth agenesis, selective, 8", "description": "" }, { "id": "MONDO:0014901", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014901", "name": "tooth agenesis, selective, 8; STHAG8", "description": "" }, { "id": "MONDO:0014901", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014901", "name": "tooth agenesis, selective, type 8", "description": "" }, { "id": "MIM:617073", "resource": "MIM", "url": "https://www.omim.org/entry/617073", "name": "Tooth agenesis, selective, 8", "description": "Tooth agenesis, selective, 8" } ], "evidence": [ { "id": "617073", "database": "MIM", "url": "https://www.omim.org/entry/617073" } ] } ], "snv": [ { "evidence": [ { "id": "O00744", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00744" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 285, "end_pos": 285, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (IDT->NDT).", "chr_id": "12", "chr_pos": "48966411", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "I285", "disease": [ { "disease_id": "DOID:1115", "recommended_name": { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "sarcoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm." }, "synonyms": [ { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "connective and soft tissue neoplasm", "description": "" }, { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "tumor of soft tissue and skeleton", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs375308208", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375308208" }, { "id": "rs375308208", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375308208" }, { "id": "rs375308208", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375308208#frequency_tab" }, { "id": "rs375308208", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375308208" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 291, "end_pos": 291, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRN->NRS).", "chr_id": "12", "chr_pos": "48966393", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N291", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1442448251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1442448251" }, { "id": "rs1442448251", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1442448251" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 31, "end_pos": 31, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NEI->NET).", "chr_id": "12", "chr_pos": "48970334", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I31", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1592249641", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1592249641" }, { "id": "rs1592249641", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1592249641" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 337, "end_pos": 337, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKT->NKP).", "chr_id": "12", "chr_pos": "48966256", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T337", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768734805", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768734805" }, { "id": "rs768734805", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768734805" }, { "id": "rs768734805", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768734805#frequency_tab" }, { "id": "rs768734805", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768734805" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 93, "end_pos": 93, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCS->KCS).", "chr_id": "12", "chr_pos": "48970147", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N93", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs567087494", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs567087494" }, { "id": "rs567087494", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs567087494" }, { "id": "rs567087494", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs567087494" }, { "id": "rs567087494", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs567087494#frequency_tab" }, { "id": "rs567087494", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs567087494" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 95, "end_pos": 95, "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCS->NCY).", "chr_id": "12", "chr_pos": "48970142", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "S95", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "61.65", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000169884", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169884" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "64.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000169884", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169884" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "63.04", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000169884", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169884" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "89.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169884", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169884" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "76.3", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169884", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169884" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "63.35", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000169884", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169884" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "77.95", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169884", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169884" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "61.82", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000169884", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169884" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "59.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000169884", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169884" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "72.39", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169884", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169884" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "42.26", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000169884", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169884" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "59.56", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000169884", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169884" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "61.22", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000169884", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169884" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O00744", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00744" } ], "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, 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}, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00744", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00744" } ], "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", 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"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", 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"description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder 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S, McKnight AJ, Handford P, Lea S", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "11297558", "url": "https://glygen.org/publication/PubMed/11297558" } ] }, { "title": "SNX3 regulates endosomal function through its PX-domain-mediated interaction with PtdIns(3)P.", "journal": "Nature cell biology", "date": "2001", "authors": "Xu Y, Hortsman H, Seet L, Wong SH, Hong W", "evidence": [ { "database": "Reactome", "id": "R-HSA-3238698", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3238698" } ], "reference": [ { "type": "PubMed", "id": "11433298", "url": "https://glygen.org/publication/PubMed/11433298" } ] }, { "title": "Proto-oncogene WNT10B is up-regulated by tumor necrosis factor alpha in human gastric cancer cell line MKN45.", "journal": "Int. J. 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