{ "uniprot_canonical_ac": "P11836-1", "uniprot_ac": "P11836", "uniprot_id": "CD20_HUMAN", "mass": { "chemical_mass": 33077.0, "monoisotopic_mass": 33077.0 }, "refseq": { "ac": "NP_068769", "name": "B-lymphocyte antigen CD20", "summary": "This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This gene encodes a B-lymphocyte surface molecule which plays a role in the development and differentiation of B-cells into plasma cells. This family member is localized to 11q12, among a cluster of family members. Alternative splicing of this gene results in two transcript variants which encode the same protein. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068769" }, "gene_names": [ { "name": "MS4A1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P11836", "id": "P11836" }, { "name": "B1; Bp35; CD20; CVID5; FMC7; LEU-16; S7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068769", "id": "NP_068769" }, { "name": "CD20", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P11836", "id": "P11836" }, { "name": "MS4A1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068769", "id": "NP_068769" } ], "protein_names": [ { "name": "B-lymphocyte antigen CD20", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P11836" }, { "name": "B-lymphocyte antigen CD20", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068769", "id": "NP_068769" }, { "name": "B-lymphocyte surface antigen B1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11836" }, { "name": "Bp35", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11836" }, { "name": "CD20 antigen; CD20 receptor; B-lymphocyte cell-surface antigen B1; membrane-spanning 4-domains, subfamily A, member 1; leukocyte surface antigen Leu-16", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068769", "id": "NP_068769" }, { "name": "Leukocyte surface antigen Leu-16", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11836" }, { "name": "Membrane-spanning 4-domains subfamily A member 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11836" } ], "function": [ { "annotation": "B-lymphocyte-specific membrane protein that plays a role in the regulation of cellular calcium influx necessary for the development, differentiation, and activation of B-lymphocytes (PubMed:3925015, PubMed:7684739, PubMed:12920111). Functions as a store-operated calcium (SOC) channel component promoting calcium influx after activation by the B-cell receptor/BCR (PubMed:7684739, PubMed:12920111, PubMed:18474602).", "evidence": [ { "database": "UniProtKB", "id": "P11836", "url": "https://www.uniprot.org/uniprot/P11836#function" }, { "database": "PubMed", "id": "7684739", "url": "https://glygen.org/publication/PubMed/7684739" }, { "database": "PubMed", "id": "18474602", "url": "https://glygen.org/publication/PubMed/18474602" }, { "database": "PubMed", "id": "12920111", "url": "https://glygen.org/publication/PubMed/12920111" }, { "database": "PubMed", "id": "3925015", "url": "https://glygen.org/publication/PubMed/3925015" } ] }, { "annotation": "CD20 expression, TrkB activation and functional activity of diffuse large B cell lymphoma-derived small extracellular vesicles.", "evidence": [ { "database": "RefSeq", "id": "NP_068769", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068769" }, { "database": "PubMed", "id": "34743199", "url": "https://glygen.org/publication/PubMed/34743199" } ] }, { "annotation": "CD20 positive CD8 T cells are a unique and transcriptionally-distinct subset of T cells with distinct transmigration properties. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_068769", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068769" }, { "database": "PubMed", "id": "34654826", "url": "https://glygen.org/publication/PubMed/34654826" } ] }, { "annotation": "Differential effects of CD20+ B cells and PD-L1+ immune cells on pathologic complete response and outcome: comparison between inflammatory breast cancer and locally advanced breast cancer patients.", "evidence": [ { "database": "RefSeq", "id": "NP_068769", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068769" }, { "database": "PubMed", "id": "34542773", "url": "https://glygen.org/publication/PubMed/34542773" } ] }, { "annotation": "MS4A1 as a Potential Independent Prognostic Factor of Breast Cancer Related to Lipid Metabolism and Immune Microenvironment Based on TCGA Database Analysis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_068769", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068769" }, { "database": "PubMed", "id": "35091527", "url": "https://glygen.org/publication/PubMed/35091527" } ] }, { "annotation": "Novel cell subtypes of SPP1 + S100P+, MS4A1-SPP1 + S100P+ were key subpopulations in intrahepatic cholangiocarcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_068769", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068769" }, { "database": "PubMed", "id": "37433400", "url": "https://glygen.org/publication/PubMed/37433400" } ] }, { "annotation": "This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This gene encodes a B-lymphocyte surface molecule which plays a role in the development and differentiation of B-cells into plasma cells. This family member is localized to 11q12, among a cluster of family members. Alternative splicing of this gene results in two transcript variants which encode the same protein. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_068769", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068769" } ] } ], "disease": [ { "disease_id": "DOID:0081148", "recommended_name": { "id": "DOID:0081148", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081148", "name": "common variable immunodeficiency 5", "description": "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD20 gene (MS4A1) on chromosome 11q13." }, "synonyms": [ { "id": "MONDO:0013285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013285", "name": "immunodeficiency, common variable, 5", "description": "Any common variable immunodeficiency in which the cause of the disease is a mutation in the MS4A1 gene." }, { "id": "MONDO:0013285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013285", "name": "MS4A1 common variable immunodeficiency", "description": "" }, { "id": "MONDO:0013285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013285", "name": "common variable immunodeficiency caused by mutation in MS4A1", "description": "" }, { "id": "MONDO:0013285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013285", "name": "immunodeficiency, common variable, 5", "description": "" }, { "id": "MONDO:0013285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013285", "name": "immunodeficiency, common variable, type 5", "description": "" }, { "id": "MONDO:0013285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013285", "name": "CVID5", "description": "" }, { "id": "MONDO:0013285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013285", "name": "antibody deficiency due to CD20 defect", "description": "" }, { "id": "MIM:613495", "resource": "MIM", "url": "https://www.omim.org/entry/613495", "name": "Immunodeficiency, common variable, 5", "description": "Immunodeficiency, common variable, 5" } ], "evidence": [ { "id": "613495", "database": "MIM", "url": "https://www.omim.org/entry/613495" } ] } ], "snv": [ { "evidence": [ { "id": "rs1590845841", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1590845841" }, { "id": "rs1590845841", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1590845841" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 109, "end_pos": 109, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSR->NSS).", "chr_id": "11", "chr_pos": "60464335", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R109", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs930982983", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs930982983" }, { "id": "rs930982983", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs930982983" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 122, "end_pos": 122, "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSL->NSS).", "chr_id": "11", "chr_pos": "60465949", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L122", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1166080334", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1166080334" }, { "id": "rs1166080334", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1166080334" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 155, "end_pos": 155, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFI->NFT).", "chr_id": "11", "chr_pos": "60466048", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I155", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201784186", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201784186" }, { "id": "rs201784186", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201784186" }, { "id": "rs201784186", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201784186#frequency_tab" }, { "id": "rs201784186", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201784186" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 178, "end_pos": 178, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSP->NSS).", "chr_id": "11", "chr_pos": "60466116", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P178", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779922206", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779922206" }, { "id": "rs779922206", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779922206" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 237, "end_pos": 237, "sequence_org": "E", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (EQT->NQT).", "chr_id": "11", "chr_pos": "60468275", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E237", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751929161", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751929161" }, { "id": "rs751929161", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751929161" }, { "id": "rs751929161", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751929161" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 294, "end_pos": 294, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "11", "chr_pos": "60468454", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D294", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs917874598", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs917874598" }, { "id": "rs917874598", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs917874598#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 9, "end_pos": 9, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->TGT).", "chr_id": "11", "chr_pos": "60462400", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N9", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 159, "end_pos": 159, "sequence_org": "T", "sequence_mut": "K", "comment": "Abrogates recognition by some antibodies; when associated with D-163 and D-166. Slight decrease of rituximab binding; when associated with D-163 and D-166.", "evidence": [ { "database": "UniProtKB", "id": "P11836", "url": "https://www.uniprot.org/uniprot/P11836" }, { "database": "PubMed", "id": "16785532", "url": "https://glygen.org/publication/PubMed/16785532" } ] }, { "start_pos": 163, "end_pos": 163, "sequence_org": "N", "sequence_mut": "D", "comment": "Decreased binding of some antibodies. No effect on rituximab binding.", "evidence": [ { "database": "UniProtKB", "id": "P11836", "url": "https://www.uniprot.org/uniprot/P11836" }, { "database": "PubMed", "id": "16785532", "url": "https://glygen.org/publication/PubMed/16785532" } ] }, { "start_pos": 166, "end_pos": 166, "sequence_org": "N", "sequence_mut": "D", "comment": "Decreased binding of some antibodies. No effect on rituximab binding.", "evidence": [ { "database": "UniProtKB", "id": "P11836", "url": "https://www.uniprot.org/uniprot/P11836" }, { "database": "PubMed", "id": "16785532", "url": "https://glygen.org/publication/PubMed/16785532" } ] }, { "start_pos": 170, "end_pos": 170, "sequence_org": "A", "sequence_mut": "S", "comment": "Abrogates recognition by therapeutic antibodies, including rituximab; when associated with S-172.", "evidence": [ { "database": "UniProtKB", "id": "P11836", "url": "https://www.uniprot.org/uniprot/P11836" }, { "database": "PubMed", "id": "16785532", "url": "https://glygen.org/publication/PubMed/16785532" } ] }, { "start_pos": 172, "end_pos": 172, "sequence_org": "P", "sequence_mut": "S", "comment": "Marked reduction in rituximab binding. Abrogates recognition by antibodies, including rituximab; when associated with S-170.", "evidence": [ { "database": "UniProtKB", "id": "P11836", "url": "https://www.uniprot.org/uniprot/P11836" }, { "database": "PubMed", "id": "16785532", "url": "https://glygen.org/publication/PubMed/16785532" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "62.13", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000156738", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156738" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "72.38", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000156738", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156738" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "70.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000156738", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156738" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000156738", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156738" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "62.53", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000156738", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156738" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "88.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000156738", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156738" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000156738", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156738" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "60.66", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000156738", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156738" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "59.59", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000156738", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156738" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000156738", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156738" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "60.87", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000156738", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156738" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "60.23", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000156738", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156738" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "64.62", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000156738", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156738" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P11836", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11836" } ], "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": "P11836", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11836" } ], "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", 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"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", 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"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 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"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": "P11836", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11836" } ], "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 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P11836", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11836" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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Slootstra JW, Parren PW, Glennie MJ, van de Winkel JG", "evidence": [ { "database": "UniProtKB", "id": "P11836", "url": "https://www.uniprot.org/uniprot/P11836" } ], "reference": [ { "type": "PubMed", "id": "16785532", "url": "https://glygen.org/publication/PubMed/16785532" } ] }, { "title": "Structural basis for recognition of CD20 by therapeutic antibody Rituximab.", "journal": "J. Biol. Chem.", "date": "2007", "authors": "Du Jiamu, Wang Hao, Zhong Chen, Peng Baozhen, Zhang Meilan, Li Bohua, Huo Sheng, Guo Yajun, Ding Jianping", "evidence": [ { "database": "UniProtKB", "id": "P11836", "url": "https://www.uniprot.org/uniprot/P11836" } ], "reference": [ { "type": "PubMed", "id": "17395584", "url": "https://glygen.org/publication/PubMed/17395584" } ] }, { "title": "Crystal structure of chimeric antibody C2H7 Fab in complex with a CD20 peptide.", "journal": "Mol. Immunol.", "date": "2008", "authors": "Du Jiamu, Wang Hao, Zhong Chen, Peng Baozhen, Zhang Meilan, Li Bohua, Hou Sheng, Guo Yajun, Ding Jianping", "evidence": [ { "database": "UniProtKB", "id": "P11836", "url": "https://www.uniprot.org/uniprot/P11836" } ], "reference": [ { "type": "PubMed", "id": "18346788", "url": "https://glygen.org/publication/PubMed/18346788" } ] }, { "title": "CD20 homo-oligomers physically associate with the B cell antigen receptor. Dissociation upon receptor engagement and recruitment of phosphoproteins and calmodulin-binding proteins.", "journal": "The Journal of biological chemistry", "date": "2008-07-04", "authors": "Polyak Maria J, Li Haidong, Shariat Neda, Deans Julie P", "evidence": [ { "database": "UniProtKB", "id": "P11836", "url": "https://www.uniprot.org/uniprot/P11836" } ], "reference": [ { "type": "PubMed", "id": "18474602", "url": "https://glygen.org/publication/PubMed/18474602" } ] }, { "title": "Phosphorylation analysis of primary human T lymphocytes using sequential IMAC and titanium oxide enrichment.", "journal": "J. Proteome Res.", "date": "2008", "authors": "Carrascal M, Ovelleiro D, Casas V, Gay M, Abian J", "evidence": [ { "database": "UniProtKB", "id": "E9PKH8", "url": "https://www.uniprot.org/uniprot/E9PKH8" } ], "reference": [ { "type": "PubMed", "id": "19367720", "url": "https://glygen.org/publication/PubMed/19367720" } ] }, { "title": "CD20 deficiency in humans results in impaired T cell-independent antibody responses.", "journal": "J. Clin. Invest.", "date": "2010", "authors": "Kuijpers Taco W, Bende Richard J, Baars Paul A, Grummels Annette, Derks Ingrid A M, Dolman Koert M, Beaumont Tim, Tedder Thomas F, van Noesel Carel J M, Eldering Eric, van Lier Ren\u00e9 A W", "evidence": [ { "database": "UniProtKB", "id": "P11836", "url": "https://www.uniprot.org/uniprot/P11836" } ], "reference": [ { "type": "PubMed", "id": "20038800", "url": "https://glygen.org/publication/PubMed/20038800" } ] }, { "title": "Epitope characterization and crystal structure of GA101 provide insights into the molecular basis for type I/II distinction of CD20 antibodies.", "journal": "Blood", "date": "2011", "authors": "Niederfellner Gerhard, Lammens Alfred, Mundigl Olaf, Georges Guy J, Schaefer Wolfgang, Schwaiger Manfred, Franke Andreas, Wiechmann Kornelius, Jenewein Stefan, Slootstra Jerry W, Timmerman Peter, Br\u00e4nnstr\u00f6m Annika, Lindstrom Frida, M\u00f6ssner Ekkehard, Umana Pablo, Hopfner Karl-Peter, Klein Christian", "evidence": [ { "database": "UniProtKB", "id": "P11836", "url": "https://www.uniprot.org/uniprot/P11836" } ], "reference": [ { "type": "PubMed", "id": "21444918", "url": "https://glygen.org/publication/PubMed/21444918" } ] }, { "title": "Proteomic analysis of S-acylated proteins in human B cells reveals palmitoylation of the immune regulators CD20 and CD23.", "journal": "PLoS ONE", "date": "2012", "authors": "Ivaldi Corinne, Martin Brent R, Kieffer-Jaquinod Sylvie, Chapel Agn\u00e8s, Levade Thierry, Garin J\u00e9r\u00f4me, Journet Agn\u00e8s", "evidence": [ { "database": "UniProtKB", "id": "P11836", "url": "https://www.uniprot.org/uniprot/P11836" } ], "reference": [ { "type": "PubMed", "id": "22615937", "url": "https://glygen.org/publication/PubMed/22615937" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "Isolation and structure of a cDNA encoding the B1 (CD20) cell-surface antigen of human B lymphocytes.", "journal": "Proc. 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Med.", "date": "1988", "authors": "Stamenkovic I, Seed B", "evidence": [ { "database": "UniProtKB", "id": "P11836", "url": "https://www.uniprot.org/uniprot/P11836" } ], "reference": [ { "type": "PubMed", "id": "3260267", "url": "https://glygen.org/publication/PubMed/3260267" } ] }, { "title": "Differential effects of CD20+ B cells and PD-L1+ immune cells on pathologic complete response and outcome: comparison between inflammatory breast cancer and locally advanced breast cancer patients.", "journal": "Breast cancer research and treatment", "date": "2021", "authors": "Arias-Pulido H, Cimino-Mathews AM, Chaher N, Qualls CR, Joste N, Colpaert C, Marotti JD, Chamberlin MD, Foisey MG, Prossnitz ER, Emens LA, Fiering S", "evidence": [ { "database": "RefSeq", "id": "NP_068769", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068769" } ], "reference": [ { "type": "PubMed", "id": "34542773", "url": "https://glygen.org/publication/PubMed/34542773" } ] }, { "title": "CD20 positive CD8 T cells are a unique and transcriptionally-distinct subset of T cells with distinct transmigration properties.", "journal": "Scientific reports", "date": "2021", "authors": "Vlaming M, Bilemjian V, Freile JA, Lourens HJ, van Rooij N, Huls G, van Meerten T, de Bruyn M, Bremer E", "evidence": [ { "database": "RefSeq", "id": "NP_068769", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068769" } ], "reference": [ { "type": "PubMed", "id": "34654826", "url": "https://glygen.org/publication/PubMed/34654826" } ] }, { "title": "CD20 expression, TrkB activation and functional activity of diffuse large B cell lymphoma-derived small extracellular vesicles.", "journal": "British journal of cancer", "date": "2021", "authors": "Aitamer M, Akil H, Vignoles C, Branchaud M, Abraham J, Gachard N, Feuillard J, Jauberteau MO, Shirvani H, Troutaud D, Bentayeb H", "evidence": [ { "database": "RefSeq", "id": "NP_068769", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068769" } ], "reference": [ { "type": "PubMed", "id": "34743199", "url": "https://glygen.org/publication/PubMed/34743199" } ] }, { "title": "MS4A1 as a Potential Independent Prognostic Factor of Breast Cancer Related to Lipid Metabolism and Immune Microenvironment Based on TCGA Database Analysis.", "journal": "Medical science monitor : international medical journal of experimental and clinical research", "date": "2022", "authors": "Li S, Fang Y", "evidence": [ { "database": "RefSeq", "id": "NP_068769", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068769" } ], "reference": [ { "type": "PubMed", "id": "35091527", "url": "https://glygen.org/publication/PubMed/35091527" } ] }, { "title": "Novel cell subtypes of SPP1\u00a0+\u00a0S100P+, MS4A1-SPP1\u00a0+\u00a0S100P+ were key subpopulations in intrahepatic cholangiocarcinoma.", "journal": "Biochimica et biophysica acta. 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