{ "uniprot_canonical_ac": "O75019-1", "uniprot_ac": "O75019", "uniprot_id": "LIRA1_HUMAN", "mass": { "chemical_mass": 53275.0, "monoisotopic_mass": 53275.0 }, "refseq": { "ac": "NP_001265247", "name": "leukocyte immunoglobulin-like receptor subfamily A member 1 isoform 2 precursor", "summary": "This gene encodes an activating member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein is predominantly expressed in B cells, interacts with major histocompatibility complex class I ligands, and contributes to the regulation of immune responses. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265247" }, "gene_names": [ { "name": "LILRA1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75019", "id": "O75019" }, { "name": "CD85I; LIR-6; LIR6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265247", "id": "NP_001265247" }, { "name": "LILRA1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265247", "id": "NP_001265247" }, { "name": "LIR6", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75019", "id": "O75019" } ], "protein_names": [ { "name": "Leukocyte immunoglobulin-like receptor subfamily A member 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75019" }, { "name": "CD85 antigen-like family member I", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75019" }, { "name": "LIR-6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75019" }, { "name": "Leukocyte immunoglobulin-like receptor 6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75019" }, { "name": "leukocyte immunoglobulin-like receptor 6; CD85 antigen-like family member I; leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1; leucocyte Ig-like receptor A1; leukocyte immunoglobulin-like receptor subfamily A member 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265247", "id": "NP_001265247" }, { "name": "leukocyte immunoglobulin-like receptor subfamily A member 1 isoform 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265247", "id": "NP_001265247" } ], "function": [ { "annotation": "May act as receptor for class I MHC antigens.", "evidence": [ { "database": "UniProtKB", "id": "O75019", "url": "https://www.uniprot.org/uniprot/O75019#function" } ] }, { "annotation": "This gene encodes an activating member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein is predominantly expressed in B cells, interacts with major histocompatibility complex class I ligands, and contributes to the regulation of immune responses. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001265247", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265247" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs142811908", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142811908" }, { "id": "rs142811908", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142811908" }, { "id": "rs142811908", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs142811908#frequency_tab" }, { "id": "rs142811908", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs142811908" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 140, "end_pos": 140, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->KVT).", "chr_id": "19", "chr_pos": "54595161", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N140", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776232642", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776232642" }, { "id": "rs776232642", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776232642" }, { "id": "rs776232642", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776232642" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 142, "end_pos": 142, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->NVN).", "chr_id": "19", "chr_pos": "54595166", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T142", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765101726", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765101726" }, { "id": "rs765101726", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765101726" }, { "id": "rs765101726", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765101726#frequency_tab" }, { "id": "rs765101726", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765101726" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 241, "end_pos": 241, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SLT->NLT).", "chr_id": "19", "chr_pos": "54595699", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S241", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1261013627", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1261013627" }, { "id": "rs1261013627", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1261013627" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 281, "end_pos": 281, "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->YFT).", "chr_id": "19", "chr_pos": "54595818", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N281", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1393366787", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1393366787" }, { "id": "rs1393366787", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1393366787" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 288, "end_pos": 288, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SRS->NRS).", "chr_id": "19", "chr_pos": "54595840", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S288", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1223832053", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1223832053" }, { "id": "rs1223832053", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1223832053" }, { "id": "rs1223832053", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1223832053" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 302, "end_pos": 302, "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->HLS).", "chr_id": "19", "chr_pos": "54595881", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N302", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765135169", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765135169" }, { "id": "rs765135169", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765135169" }, { "id": "rs765135169", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765135169" }, { "id": "rs765135169", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765135169#frequency_tab" }, { "id": "rs765135169", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765135169" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 304, "end_pos": 304, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->NLF).", "chr_id": "19", "chr_pos": "54595888", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S304", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs191609716", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs191609716" }, { "id": "rs191609716", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs191609716" }, { "id": "rs191609716", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs191609716" }, { "id": "rs191609716", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs191609716#frequency_tab" }, { "id": "rs191609716", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs191609716" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 343, "end_pos": 343, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->NVI).", "chr_id": "19", "chr_pos": "54596258", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.002396", "site_lbl": "T343", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "57.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000104974", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104974" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "42.39", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000104974", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104974" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "53.4", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000104974", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104974" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000104974", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104974" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "67.92", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000104974", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104974" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "66.81", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000104974", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104974" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000104974", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104974" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "50.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000104974", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104974" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "50.82", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000104974", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104974" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000104974", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104974" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "59.87", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000104974", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104974" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "55.56", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000104974", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104974" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "55.07", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000104974", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104974" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75019", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75019" } ], "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": 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"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", 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"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": "O75019", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75019" } ], "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", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75019", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75019" } ], "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": 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O75019", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75019" } ], "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. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O75019", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75019" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O75019", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75019" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75019", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75019" } ], "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", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O75019", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75019" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O75019", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75019" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O75019", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75019" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", 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"ENST00000251372.8", "url": "https://www.ensembl.org/id/ENST00000251372.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000251372.3", "url": "https://www.ensembl.org/id/ENSP00000251372.3" } ] } }, { "isoform_ac": "O75019-2", "url": "", "sequence": { "sequence": "MTPIVTVLICLRLSLGPRTHVQAGTLPKPTLWAEPGSVITQGSPVTLWCQGILETQEYRLYREKKTAPWITRIPQEIVKKGQFPIPSITWEHTGRYRCFYGSHTAGWSEPSDPLELVVTGAYIKPTLSALPSPVVTSGGNVTLHCVSQVAFGSFILCKEGEDEHPQCLNSQPRTHGWSRAIFSVGPVSPSRRWSYRCYAYDSNSPHVWSLPSDLLELLVLGAAETLSPPQNKSDSKAGAANTLSPSQNKTASHPQDYTVENLIRMGIAGLVLVVLGILLFEAQHSQRSL", "length": 289, "header": "sp|O75019-2|LIRA1_HUMAN Isoform 2 of Leukocyte immunoglobulin-like receptor subfamily A member 1 OS=Homo sapiens OX=9606 GN=LILRA1 PE=2 SV=1 CANONICAL=O75019-1" }, "locus": { "chromosome": "HSCHR19_4_CTG3_1", "start_pos": 583393, "end_pos": 576824, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000620606.4", "url": "https://www.ensembl.org/id/ENST00000620606.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000478666.1", "url": "https://www.ensembl.org/id/ENSP00000478666.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 140, "start_aa": "Asn", "end_pos": 140, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn140", "evidence": [ { "id": "O75019", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75019#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 281, "start_aa": "Asn", "end_pos": 281, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn281", "evidence": [ { "id": "O75019", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75019#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 302, "start_aa": "Asn", "end_pos": 302, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn302", "evidence": [ { "id": "O75019", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75019#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 341, "start_aa": "Asn", "end_pos": 341, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn341", "evidence": [ { "id": "O75019", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75019#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 431, "start_aa": "Asn", "end_pos": 431, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn431", "evidence": [ { "id": "O75019", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75019#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 448, "start_aa": "Asn", "end_pos": 448, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn448", "evidence": [ { "id": "O75019", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75019#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Identification and molecular cloning of p75/AIRM1, a novel member of the sialoadhesin family that functions as an inhibitory receptor in human natural killer cells.", "journal": "The Journal of experimental medicine", "date": "1999", "authors": "Falco M, Biassoni R, Bottino C, Vitale M, Sivori S, Augugliaro R, Moretta L, Moretta A", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "10499918", "url": "https://glygen.org/publication/PubMed/10499918" } ] }, { "title": "The CMRF-35H gene structure predicts for an independently expressed member of an ITIM/ITAM pair of molecules localized to human chromosome 17.", "journal": "Tissue antigens", "date": "2000", "authors": "Clark GJ, Green BJ, Hart DN", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "10746781", "url": "https://glygen.org/publication/PubMed/10746781" } ] }, { "title": "Identification of NKp80, a novel triggering molecule expressed by human NK cells.", "journal": "European journal of immunology", "date": "2001", "authors": "Vitale M, Falco M, Castriconi R, Parolini S, Zambello R, Semenzato G, Biassoni R, Bottino C, Moretta L, Moretta A", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "11265639", "url": "https://glygen.org/publication/PubMed/11265639" } ] }, { "title": "NTB-A [correction of GNTB-A], a novel SH2D1A-associated surface molecule contributing to the inability of natural killer cells to kill Epstein-Barr virus-infected B cells in X-linked lymphoproliferative disease.", "journal": "The Journal of experimental medicine", "date": "2001", "authors": "Bottino C, Falco M, Parolini S, Marcenaro E, Augugliaro R, Sivori S, Landi E, Biassoni R, Notarangelo LD, Moretta L, Moretta A", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "11489943", "url": "https://glygen.org/publication/PubMed/11489943" } ] }, { "title": "Structural basis of MHC class I recognition by natural killer cell receptors.", "journal": "Immunological reviews", "date": "2001", "authors": "Sawicki MW, Dimasi N, Natarajan K, Wang J, Margulies DH, Mariuzza RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "11513152", "url": "https://glygen.org/publication/PubMed/11513152" } ] }, { "title": "The gene encoding the immunoregulatory signaling molecule CMRF-35A localized to human chromosome 17 in close proximity to other members of the CMRF-35 family.", "journal": "Tissue antigens", "date": "2001", "authors": "Clark GJ, Cooper B, Fitzpatrick S, Green BJ, Hart DN", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "11556966", "url": "https://glygen.org/publication/PubMed/11556966" } ] }, { "title": "A reassessment of the MAdCAM-1 structure and its role in integrin recognition.", "journal": "Acta crystallographica. Section D, Biological crystallography", "date": "2002", "authors": "Dando J, Wilkinson KW, Ortlepp S, King DJ, Brady RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "11807247", "url": "https://glygen.org/publication/PubMed/11807247" } ] }, { "title": "Inhibition of LFA-1/ICAM-1 and VLA-4/VCAM-1 as a therapeutic approach to inflammation and autoimmune diseases.", "journal": "Medicinal research reviews", "date": "2002", "authors": "Yusuf-Makagiansar H, Anderson ME, Yakovleva TV, Murray JS, Siahaan TJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "11857637", "url": "https://glygen.org/publication/PubMed/11857637" } ] }, { "title": "Structure and function of major histocompatibility complex (MHC) class I specific receptors expressed on human natural killer (NK) cells.", "journal": "Molecular immunology", "date": "2002", "authors": "Borrego F, Kabat J, Kim DK, Lieto L, Maasho K, Pena J, Solana R, Coligan JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "11858820", "url": "https://glygen.org/publication/PubMed/11858820" } ] }, { "title": "KIR: diverse, rapidly evolving receptors of innate and adaptive immunity.", "journal": "Annual review of immunology", "date": "2002", "authors": "Vilches C, Parham P", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "11861603", "url": "https://glygen.org/publication/PubMed/11861603" } ] }, { "title": "A structural perspective on MHC class I recognition by killer cell immunoglobulin-like receptors.", "journal": "Molecular immunology", "date": "2002", "authors": "Boyington JC, Sun PD", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "11955593", "url": "https://glygen.org/publication/PubMed/11955593" } ] }, { "title": "Asymmetric ligand recognition by the activating natural killer cell receptor NKG2D, a symmetric homodimer.", "journal": "Molecular immunology", "date": "2002", "authors": "Strong RK", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "11955595", "url": "https://glygen.org/publication/PubMed/11955595" } ] }, { "title": "Recognition of immunoglobulins by Fcgamma receptors.", "journal": "Molecular immunology", "date": "2002", "authors": "Radaev S, Sun P", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": 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"R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "12483297", "url": "https://glygen.org/publication/PubMed/12483297" } ] }, { "title": "Expression of potential lymphocyte trafficking mediator molecules in the mammary gland.", "journal": "Veterinary research", "date": "2003", "authors": "Nishimura T", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "12588680", "url": "https://glygen.org/publication/PubMed/12588680" } ] }, { "title": "Signaling by the CD19/CD21 complex on B cells.", "journal": "Current directions in autoimmunity", "date": "2004", "authors": "Carter RH, Barrington RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "14719373", "url": "https://glygen.org/publication/PubMed/14719373" } ] }, { "title": "Activation of natural killer cells and dendritic cells upon recognition of a novel CD99-like ligand by paired immunoglobulin-like type 2 receptor.", "journal": "The Journal of experimental medicine", "date": "2004", "authors": "Shiratori I, Ogasawara K, Saito T, Lanier LL, Arase H", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "14970179", "url": "https://glygen.org/publication/PubMed/14970179" } ] }, { "title": "Cutting edge: CD96 (tactile) promotes NK cell-target cell adhesion by interacting with the poliovirus receptor (CD155).", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2004", "authors": "Fuchs A, Cella M, Giurisato E, Shaw AS, Colonna M", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } 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"id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "24305946", "url": "https://glygen.org/publication/PubMed/24305946" } ] }, { "title": "CD1 and mycobacterial lipids activate human T cells.", "journal": "Immunological reviews", "date": "2015", "authors": "Van Rhijn I, Moody DB", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "25703557", "url": "https://glygen.org/publication/PubMed/25703557" } ] }, { "title": "OSCAR is a receptor for surfactant protein D that activates TNF-alpha release from human CCR2+ inflammatory monocytes.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2015", "authors": "Barrow AD, Palarasah Y, Bugatti M, Holehouse AS, Byers DE, Holtzman MJ, Vermi W, Skjodt K, Crouch E, Colonna M", "evidence": [ { "database": "Reactome", "id": 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{ "title": "Crystal structure of an integrin-binding fragment of vascular cell adhesion molecule-1 at 1.8 A resolution.", "journal": "Nature", "date": "1995", "authors": "Jones EY, Harlos K, Bottomley MJ, Robinson RC, Driscoll PC, Edwards RM, Clements JM, Dudgeon TJ, Stuart DI", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "7531291", "url": "https://glygen.org/publication/PubMed/7531291" } ] }, { "title": "CD1-restricted T cell recognition of microbial lipoglycan antigens.", "journal": "Science (New York, N.Y.)", "date": "1995", "authors": "Sieling PA, Chatterjee D, Porcelli SA, Prigozy TI, Mazzaccaro RJ, Soriano T, Bloom BR, Brenner MB, Kronenberg M, Brennan PJ, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "7542404", "url": "https://glygen.org/publication/PubMed/7542404" } ] }, { "title": "Gene for familial psoriasis susceptibility mapped to the distal end of human chromosome 17q.", "journal": "Science (New York, N.Y.)", "date": "1994", "authors": "Tomfohrde J, Silverman A, Barnes R, Fernandez-Vina MA, Young M, Lory D, Morris L, Wuepper KD, Stastny P, Menter A, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "8178173", "url": "https://glygen.org/publication/PubMed/8178173" } ] }, { "title": "cDNA cloning and chromosomal localization of the human telencephalin and its distinctive interaction with lymphocyte function-associated antigen-1.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Mizuno T, Yoshihara Y, Inazawa J, Kagamiyama H, Mori K", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": 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Immunol.", "date": "1997", "authors": "Borges L, Hsu ML, Fanger N, Kubin M, Cosman D", "evidence": [ { "database": "UniProtKB", "id": "O75019", "url": "https://www.uniprot.org/uniprot/O75019" } ], "reference": [ { "type": "PubMed", "id": "9548455", "url": "https://glygen.org/publication/PubMed/9548455" } ] }, { "title": "Structural specializations of immunoglobulin superfamily members for adhesion to integrins and viruses.", "journal": "Immunological reviews", "date": "1998", "authors": "Wang J, Springer TA", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "9700512", "url": "https://glygen.org/publication/PubMed/9700512" } ] }, { "title": "Molecular cloning of NKp46: a novel member of the immunoglobulin superfamily involved in triggering of natural cytotoxicity.", "journal": "The Journal of experimental medicine", "date": "1998", "authors": "Pessino A, Sivori S, 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"sequence": { "sequence": "MSCTFTARLCLGLTLSLWIPVLTGSLPKPILRVQPDSVVSRWTKVTFLCEETIGANEYRLYKDGKLYKTVTKNKQKPANKAEFSFSNVDLSNAGQYECSYSTQYKSSGYSDLLELVVTEDYWTPSLSAQASPVVTSGGYVTLQCESSQSYHRFILTVEGPQNLIWRQDSQYNYSTRKYHALFSVGPVTPNQRWICRCYSYDRNRPYVWSPPSESVELLVSGNLQKPTIKAEPSSVITSERAMTIWCQGNLDAEVYFLHNEKSQKTESTQTLQQPGNKGKFFIPSVTQQHAGQYRCYCYSSAGWSEPSDTLELVVTGIYEHYELRLSALPSTVVTAGGNMTLHCASHSHYDKFILMKEDKKFTNSLDTVYISSSRQYQALFIIGPTTPTHTGTFRCYGYYKNAPQLWSVPSDLQQILISGLSKKPSLLTHQGHILDPGMTLTLQCFSDINYDRFALHKVGGADIMQHSSQQTDTGFSMANFTLGYVSSSTGGQYRCYGAHNLSSEWSASSDPVDVLILIPGQLPITPSLLVKPNHTVHSGETVSLLCWSMDPVETFILSKEGSAQQPLRLKSKSHDQQSQAEFSMSAVTSHLSGTYRCYGAQDSSFYLLSSASSPVELTVSGTIESSTWSPKRPIPPIPTENQDHTTENLIRMGMAVVVLIVLSILATEAWRSHRQTHPAAGN", "length": 682 }, "evidence": [ { "id": "45934448", "url": "http://www.informatics.jax.org/homology/45934448", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "F8VQ94-1", "protein_name": "Paired-Ig-like receptor A2", "gene_name": "Pira2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSCTFTALLCLGLTLSLWIPVLTGSLPKPILRVQPDSVVSRRTKVTFLCEETIGANEYRLYKDGKLYKTVTKNKQKPANKAEFSFSNVDLSNAGQYECSYSTQYKSSGYSDPLKLVVTEDYWTPSLSAQASPVVTSGGYVTLQCESWPSYDRFILTVAGPQKFSWTQDSQYNYSTRKNHALFSVGPVTPNQRWIFRCYSYDRNRPYVFSAPSESVELLVSGNLQKPTIKAEPGSVITSKRAMTIWCQGNLDAEVYFLHNEKSQKTQSTQTLQEPGNKGRFFIPSVTQQHAGQYRCYCYSSAGWSQPSDTLELVVTGIYEYYEPRLSVLPSPVVTAGGNMTLHCASDFHYDKFILTKEDKKFTSSLDTEHISSSRQYRALFIIGPTTPTHTGTFRCYGYYKNAPQLWSVPSALQQILISGLSKKPSLLTHQGHTLDPGMTLTLQCFSDINYDRYALHKVGRADIMQHSSQQTDTGFSVANFTLGYVSSSTGGQYRCYGAHNLSSEWSASSEPLDILITGQLPLTPSLSVQPNHTVHSGETVSLLCWSMDSVDTFILSKEGSAQQPLRLKSKSHDQQSQAEFSMSAVTSHLSGTYRCYGAQDSSFYLLSSASAPVELTVSETIESSTWSPKRPIPPIPTENKDHTMENLIRMGMAVLVLIVLSILATEAWRSHRQTHPAAGN", "length": 680 }, "evidence": [ { "id": "45934446", "url": "http://www.informatics.jax.org/homology/45934446", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "O75022-1", "protein_name": "Leukocyte immunoglobulin-like receptor subfamily 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"http://www.informatics.jax.org/homology/45934446", "database": "MGI" }, { "id": "45934447", "url": "http://www.informatics.jax.org/homology/45934447", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "P59901-1", "protein_name": "Leukocyte immunoglobulin-like receptor subfamily A member 4", "gene_name": "LILRA4", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MTLILTSLLFFGLSLGPRTRVQAENLLKPILWAEPGPVITWHNPVTIWCQGTLEAQGYRLDKEGNSMSRHILKTLESENKVKLSIPSMMWEHAGRYHCYYQSPAGWSEPSDPLELVVTAYSRPTLSALPSPVVTSGVNVTLRCASRLGLGRFTLIEEGDHRLSWTLNSHQHNHGKFQALFPMGPLTFSNRGTFRCYGYENNTPYVWSEPSDPLQLLVSGVSRKPSLLTLQGPVVTPGENLTLQCGSDVGYIRYTLYKEGADGLPQRPGRQPQAGLSQANFTLSPVSRSYGGQYRCYGAHNVSSEWSAPSDPLDILIAGQISDRPSLSVQPGPTVTSGEKVTLLCQSWDPMFTFLLTKEGAAHPPLRLRSMYGAHKYQAEFPMSPVTSAHAGTYRCYGSRSSNPYLLSHPSEPLELVVSGATETLNPAQKKSDSKTAPHLQDYTVENLIRMGVAGLVLLFLGILLFEAQHSQRSPPRCSQEANSRKDNAPFRVVEPWEQI", "length": 499 }, "evidence": [ { "id": "45934448", "url": "http://www.informatics.jax.org/homology/45934448", "database": "MGI" }, { "id": "45934445", "url": "http://www.informatics.jax.org/homology/45934445", "database": "MGI" }, { "id": "45934446", "url": "http://www.informatics.jax.org/homology/45934446", "database": "MGI" }, { "id": "45934447", "url": "http://www.informatics.jax.org/homology/45934447", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "Q8N149-1", "protein_name": "Leukocyte immunoglobulin-like receptor subfamily A member 2", "gene_name": "LILRA2", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MTPILTVLICLGLSLGPRTHVQAGHLPKPTLWAEPGSVIIQGSPVTLRCQGSLQAEEYHLYRENKSASWVRRIQEPGKNGQFPIPSITWEHAGRYHCQYYSHNHSSEYSDPLELVVTGAYSKPTLSALPSPVVTSGGNVTLQCVSQVAFDGFILCKEGEDEHPQRLNSHSHARGWSWAIFSVGPVSPSRRWSYRCYAYDSNSPYVWSLPSDLLELLVPGVSKKPSLSVQPGPMVAPGESLTLQCVSDVGYDRFVLYKEGERDFLQRPGWQPQAGLSQANFTLGPVSPSHGGQYRCYSAHNLSSEWSAPSDPLDILITGQFYDRPSLSVQPVPTVAPGKNVTLLCQSRGQFHTFLLTKEGAGHPPLHLRSEHQAQQNQAEFRMGPVTSAHVGTYRCYSSLSSNPYLLSLPSDPLELVVSEAAETLSPSQNKTDSTTTSLGQHPQDYTVENLIRMGVAGLVLVVLGILLFEAQHSQRSLQDAAGR", "length": 483 }, "evidence": [ { "id": "45934448", "url": "http://www.informatics.jax.org/homology/45934448", "database": "MGI" }, { "id": "45934445", "url": "http://www.informatics.jax.org/homology/45934445", "database": "MGI" }, { "id": "45934446", "url": "http://www.informatics.jax.org/homology/45934446", "database": "MGI" }, { "id": "45934447", "url": "http://www.informatics.jax.org/homology/45934447", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "Q8N6C8-1", "protein_name": "Leukocyte immunoglobulin-like receptor subfamily A member 3", "gene_name": "LILRA3", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MTPILTVLICLGLSLDPRTHVQAGPLPKPTLWAEPGSVITQGSPVTLRCQGSLETQEYHLYREKKTALWITRIPQELVKKGQFPILSITWEHAGRYCCIYGSHTAGLSESSDPLELVVTGAYSKPTLSALPSPVVTSGGNVTIQCDSQVAFDGFILCKEGEDEHPQCLNSHSHARGSSRAIFSVGPVSPSRRWSYRCYGYDSRAPYVWSLPSDLLGLLVPGVSKKPSLSVQPGPVVAPGEKLTFQCGSDAGYDRFVLYKEWGRDFLQRPGRQPQAGLSQANFTLGPVSRSYGGQYTCSGAYNLSSEWSAPSDPLDILITGQIRARPFLSVRPGPTVASGENVTLLCQSQGGMHTFLLTKEGAADSPLRLKSKRQSHKYQAEFPMSPVTSAHAGTYRCYGSLSSNPYLLTHPSDPLELVVSGAAETLSPPQNKSDSKAGE", "length": 439 }, "evidence": [ { "id": "45934448", "url": "http://www.informatics.jax.org/homology/45934448", "database": "MGI" }, { "id": "45934445", "url": "http://www.informatics.jax.org/homology/45934445", "database": "MGI" }, { "id": "45934446", "url": "http://www.informatics.jax.org/homology/45934446", "database": "MGI" }, { "id": "45934447", "url": "http://www.informatics.jax.org/homology/45934447", "database": "MGI" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "transmembrane signaling receptor activity", "id": "GO:0004888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004888", "evidence": [ { "database": "UniProtKB", "id": "O75019", "url": "https://www.uniprot.org/uniprot/O75019" } ], "pmid": "" }, { "name": "antigen binding", "id": "GO:0003823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003823", "evidence": [ { "database": "UniProtKB", "id": "O75019", "url": "https://www.uniprot.org/uniprot/O75019" } ], "pmid": "" }, { "name": "inhibitory MHC class I receptor activity", "id": "GO:0032396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032396", "evidence": [ { "database": "UniProtKB", "id": "O75019", "url": "https://www.uniprot.org/uniprot/O75019" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O75019", "url": "https://www.uniprot.org/uniprot/O75019" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "defense response", "id": "GO:0006952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006952", "evidence": [ { "database": "UniProtKB", "id": "O75019", "url": "https://www.uniprot.org/uniprot/O75019" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "O75019", "url": "https://www.uniprot.org/uniprot/O75019" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "O75019", "url": "https://www.uniprot.org/uniprot/O75019" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "O75019", "url": "https://www.uniprot.org/uniprot/O75019" } ], "pmid": "" }, { "name": "immune system process", "id": "GO:0002376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002376", "evidence": [ { "database": "UniProtKB", "id": "O75019", "url": "https://www.uniprot.org/uniprot/O75019" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 140, "end_pos": 142, "annotation": "n_glycosylation_sequon" }, { "start_pos": 281, "end_pos": 283, "annotation": "n_glycosylation_sequon" }, { "start_pos": 302, "end_pos": 304, "annotation": "n_glycosylation_sequon" }, { "start_pos": 341, "end_pos": 343, "annotation": "n_glycosylation_sequon" }, { "start_pos": 431, "end_pos": 433, "annotation": "n_glycosylation_sequon" }, { "start_pos": 448, "end_pos": 450, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 140, 281, 302, 341, 431, 448 ], "o_linked_sites": [], "snv_sites": [ 140, 142, 241, 281, 288, 302, 304, 343 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 140, "end_pos": 142 }, { "start_pos": 281, "end_pos": 283 }, { "start_pos": 302, "end_pos": 304 }, { "start_pos": 341, "end_pos": 343 }, { "start_pos": 431, "end_pos": 433 }, { "start_pos": 448, "end_pos": 450 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 6 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 6 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 8 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 8 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 78 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }