{ "uniprot_canonical_ac": "P09326-1", "uniprot_ac": "P09326", "uniprot_id": "CD48_HUMAN", "mass": { "chemical_mass": 27683.0, "monoisotopic_mass": 27683.0 }, "refseq": { "ac": "NP_001769", "name": "CD48 antigen isoform 1 precursor", "summary": "This gene encodes a member of the CD2 subfamily of immunoglobulin-like receptors which includes SLAM (signaling lymphocyte activation molecules) proteins. The encoded protein is found on the surface of lymphocytes and other immune cells, dendritic cells and endothelial cells, and participates in activation and differentiation pathways in these cells. The encoded protein does not have a transmembrane domain, however, but is held at the cell surface by a GPI anchor via a C-terminal domain which maybe cleaved to yield a soluble form of the receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001769" }, "gene_names": [ { "name": "CD48", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P09326", "id": "P09326" }, { "name": "BCM1; BLAST; BLAST1; hCD48; mCD48; MEM-102; SLAMF2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001769", "id": "NP_001769" }, { "name": "BCM1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P09326", "id": "P09326" }, { "name": "BLAST1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P09326", "id": "P09326" }, { "name": "CD48", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001769", "id": "NP_001769" } ], "protein_names": [ { "name": "CD48 antigen", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P09326" }, { "name": "B-lymphocyte activation marker BLAST-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P09326" }, { "name": "BCM1 surface antigen", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P09326" }, { "name": "CD48 antigen (B-cell membrane protein); TCT.1; BCM1 surface antigen; leukocyte antigen MEM-102; B-lymphocyte activation marker BLAST-1; SLAM family member 2; signaling lymphocytic activation molecule 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001769", "id": "NP_001769" }, { "name": "CD48 antigen isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001769", "id": "NP_001769" }, { "name": "Leukocyte antigen MEM-102", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P09326" }, { "name": "SLAM family member 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P09326" }, { "name": "SLAMF2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P09326" }, { "name": "Signaling lymphocytic activation molecule 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P09326" }, { "name": "TCT.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P09326" } ], "function": [ { "annotation": "Boosting of tau protein aggregation by CD40 and CD48 gene expression in Alzheimer's disease.", "evidence": [ { "database": "RefSeq", "id": "NP_001769", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001769" }, { "database": "PubMed", "id": "36520044", "url": "https://glygen.org/publication/PubMed/36520044" } ] }, { "annotation": "Elevated levels of sCD48 are inversely correlated with markers of disease activity in bullous pemphigoid.", "evidence": [ { "database": "RefSeq", "id": "NP_001769", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001769" }, { "database": "PubMed", "id": "36134505", "url": "https://glygen.org/publication/PubMed/36134505" } ] }, { "annotation": "GDF15 induces immunosuppression via CD48 on regulatory T cells in hepatocellular carcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_001769", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001769" }, { "database": "PubMed", "id": "34489334", "url": "https://glygen.org/publication/PubMed/34489334" } ] }, { "annotation": "Glycosylphosphatidylinositol (GPI)-anchored cell surface glycoprotein that interacts via its N-terminal immunoglobulin domain with cell surface receptors including 2B4/CD244 or CD2 to regulate immune cell function and activation (PubMed:27249817, PubMed:12007789). Participates in T-cell signaling transduction by associating with CD2 and efficiently bringing the Src family protein kinase LCK and LAT to the TCR/CD3 complex (PubMed:19494291). In turn, promotes LCK phosphorylation and subsequent activation (PubMed:12007789). Induces the phosphorylation of the cytoplasmic immunoreceptortyrosine switch motifs (ITSMs) of CD244 initiating a series of signaling events that leads to the generation of the immunological synapse and the directed release of cytolytic granules containing perforin and granzymes by T-lymphocytes and NK-cells (PubMed:9841922, PubMed:27249817).", "evidence": [ { "database": "UniProtKB", "id": "P09326", "url": "https://www.uniprot.org/uniprot/P09326#function" }, { "database": "PubMed", "id": "12007789", "url": "https://glygen.org/publication/PubMed/12007789" }, { "database": "PubMed", "id": "9841922", "url": "https://glygen.org/publication/PubMed/9841922" }, { "database": "PubMed", "id": "27249817", "url": "https://glygen.org/publication/PubMed/27249817" }, { "database": "PubMed", "id": "19494291", "url": "https://glygen.org/publication/PubMed/19494291" } ] }, { "annotation": "Patients with coronavirus disease 2019 characterized by dysregulated levels of membrane and soluble cluster of differentiation 48.", "evidence": [ { "database": "RefSeq", "id": "NP_001769", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001769" }, { "database": "PubMed", "id": "36280100", "url": "https://glygen.org/publication/PubMed/36280100" } ] }, { "annotation": "Programmed Cell Death-1 (PD-1) anchoring to the GPI-linked co-receptor CD48 reveals a novel mechanism to modulate PD-1-dependent inhibition of human T cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001769", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001769" }, { "database": "PubMed", "id": "36889184", "url": "https://glygen.org/publication/PubMed/36889184" } ] }, { "annotation": "This gene encodes a member of the CD2 subfamily of immunoglobulin-like receptors which includes SLAM (signaling lymphocyte activation molecules) proteins. The encoded protein is found on the surface of lymphocytes and other immune cells, dendritic cells and endothelial cells, and participates in activation and differentiation pathways in these cells. The encoded protein does not have a transmembrane domain, however, but is held at the cell surface by a GPI anchor via a C-terminal domain which maybe cleaved to yield a soluble form of the receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001769", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001769" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1445513361", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1445513361" }, { "id": "rs1445513361", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1445513361" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 164, "end_pos": 164, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYT->NYI).", "chr_id": "1", "chr_pos": "160681363", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T164", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754649840", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754649840" }, { "id": "rs754649840", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754649840" }, { "id": "rs754649840", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754649840" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 189, "end_pos": 189, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYS->DYS).", "chr_id": "1", "chr_pos": "160681289", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N189", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs188128696", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs188128696" }, { "id": "rs188128696", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs188128696" }, { "id": "rs188128696", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs188128696" }, { "id": "rs188128696", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs188128696" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 191, "end_pos": 191, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYS->NYF).", "chr_id": "1", "chr_pos": "160681282", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000399", "site_lbl": "S191", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs188128696", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs188128696" }, { "id": "rs188128696", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs188128696" }, { "id": "rs188128696", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs188128696" }, { "id": "rs188128696", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs188128696" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 191, "end_pos": 191, "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYS->NYY).", "chr_id": "1", "chr_pos": "160681282", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000399", "site_lbl": "S191", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P09326", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P09326" }, { "id": "rs150735389", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150735389" }, { "id": "rs150735389", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs150735389" }, { "id": "rs150735389", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150735389" }, { "id": "rs150735389", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs150735389#frequency_tab" }, { "id": "rs150735389", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs150735389" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 208, "end_pos": 208, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NGT->NGM).", "chr_id": "1", "chr_pos": "160681231", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T208", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P09326", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P09326" }, { "id": "rs1284507615", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1284507615" }, { "id": "rs1284507615", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1284507615#frequency_tab" }, { "id": "rs1284507615", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1284507615" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 44, "end_pos": 44, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NIS->KIS).", "chr_id": "1", "chr_pos": "160685140", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "N44", "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": 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"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, 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"http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P09326", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09326" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P09326", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09326" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09326" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "11812992", "url": "https://glygen.org/publication/PubMed/11812992" } ] }, { "title": "The oxygen-substituted palmitic acid analogue, 13-oxypalmitic acid, inhibits Lck localization to lipid rafts and T cell signaling.", "journal": "Biochimica et biophysica acta", "date": "2002-04-03", "authors": "Hawash Ibrahim Y, Hu X Eric, Adal Adiam, Cassady John M, Geahlen Robert L, Harrison Marietta L", "evidence": [ { "database": "UniProtKB", "id": "P09326", "url": "https://www.uniprot.org/uniprot/P09326" } ], "reference": [ { "type": "PubMed", "id": "12007789", "url": "https://glygen.org/publication/PubMed/12007789" } ] }, { "title": "JAM2 interacts with alpha4beta1. Facilitation by JAM3.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Cunningham SA, Rodriguez JM, Arrate MP, Tran TM, Brock TA", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "12070135", "url": "https://glygen.org/publication/PubMed/12070135" } ] }, { "title": "The junctional adhesion molecule 3 (JAM-3) on human platelets is a counterreceptor for the leukocyte integrin Mac-1.", "journal": "The Journal of experimental medicine", "date": "2002", "authors": "Santoso S, Sachs UJ, Kroll H, Linder M, Ruf A, Preissner KT, Chavakis T", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "12208882", "url": "https://glygen.org/publication/PubMed/12208882" } ] }, { "title": "Plasmodium falciparum erythrocyte invasion through glycophorin C and selection for Gerbich negativity in human populations.", "journal": "Nature medicine", "date": "2003", "authors": "Maier AG, Duraisingh MT, Reeder JC, Patel SS, Kazura JW, Zimmerman PA, Cowman AF", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "12469115", "url": "https://glygen.org/publication/PubMed/12469115" } ] }, { "title": "MIF signal transduction initiated by binding to CD74.", "journal": "The Journal of experimental medicine", "date": "2003", "authors": "Leng L, Metz CN, Fang Y, Xu J, Donnelly S, Baugh J, Delohery T, Chen Y, Mitchell RA, Bucala R", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "12782713", "url": "https://glygen.org/publication/PubMed/12782713" } ] }, { "title": "Structural biology of the cell adhesion protein CD2: from molecular recognition to protein folding and design.", "journal": "Current protein & peptide science", "date": "2003", "authors": "Wilkins AL, Yang W, Yang JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "14529530", "url": "https://glygen.org/publication/PubMed/14529530" } ] }, { "title": "Platelet-monocyte complexes support monocyte adhesion to endothelium by enhancing secondary tethering and cluster formation.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "2004", "authors": "da Costa Martins P, van den Berk N, Ulfman LH, Koenderman L, Hordijk PL, Zwaginga JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "14615387", "url": "https://glygen.org/publication/PubMed/14615387" } ] }, { "title": "Human lectin-like oxidized low-density lipoprotein receptor-1 functions as a dimer in living cells.", "journal": "DNA and cell biology", "date": "2004", "authors": "Xie Q, Matsunaga S, Niimi S, Ogawa S, Tokuyasu K, Sakakibara Y, Machida S", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "15000751", "url": "https://glygen.org/publication/PubMed/15000751" } ] }, { "title": "The functional interaction of the beta 2 integrin lymphocyte function-associated antigen-1 with junctional adhesion molecule-A is mediated by the I domain.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2004", "authors": "Fraemohs L, Koenen RR, Ostermann G, Heinemann B, Weber C", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "15528364", 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Immunol.", "date": "1997", "authors": "Smith G M, Biggs J, Norris B, Anderson-Stewart P, Ward R", "evidence": [ { "database": "UniProtKB", "id": "P09326", "url": "https://www.uniprot.org/uniprot/P09326" } ], "reference": [ { "type": "PubMed", "id": "9418191", "url": "https://glygen.org/publication/PubMed/9418191" } ] }, { "title": "Identification of the lectin-like receptor for oxidized low-density lipoprotein in human macrophages and its potential role as a scavenger receptor.", "journal": "The Biochemical journal", "date": "1998", "authors": "Yoshida H, Kondratenko N, Green S, Steinberg D, Quehenberger O", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "9693095", "url": "https://glygen.org/publication/PubMed/9693095" } ] }, { "title": "Ligand specificity of LOX-1, a novel endothelial receptor for oxidized low density lipoprotein.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "1998", "authors": "Moriwaki H, Kume N, Sawamura T, Aoyama T, Hoshikawa H, Ochi H, Nishi E, Masaki T, Kita T", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "9763524", "url": "https://glygen.org/publication/PubMed/9763524" } ] }, { "title": "2B4, the natural killer and T cell immunoglobulin superfamily surface protein, is a ligand for CD48.", "journal": "The Journal of experimental medicine", "date": "1998", "authors": "Brown MH, Boles K, van der Merwe PA, Kumar V, Mathew PA, Barclay AN", "evidence": [ { "database": "UniProtKB", "id": "P09326", "url": "https://www.uniprot.org/uniprot/P09326" } ], "reference": [ { "type": "PubMed", "id": "9841922", "url": "https://glygen.org/publication/PubMed/9841922" } ] }, { "title": "CD48 expression on leukocytes in infectious diseases: flow cytometric analysis of surface antigen.", "journal": "Acta Paediatr. 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