{ "uniprot_canonical_ac": "Q8N126-1", "uniprot_ac": "Q8N126", "uniprot_id": "CADM3_HUMAN", "mass": { "chemical_mass": 43300.0, "monoisotopic_mass": 43300.0 }, "refseq": { "ac": "NP_001120645", "name": "cell adhesion molecule 3 isoform 2 precursor", "summary": "The protein encoded by this gene is a calcium-independent cell-cell adhesion protein that can form homodimers or heterodimers with other nectin proteins. The encoded protein has both homophilic and heterophilic cell-cell adhesion activity. This gene is reported to be a tumor suppressor gene. [provided by RefSeq, Oct 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120645" }, "gene_names": [ { "name": "CADM3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q8N126", "id": "Q8N126" }, { "name": "BIgR; CMT2FF; IGSF4B; Necl-1; NECL1; synCAM3; TSLL1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120645", "id": "NP_001120645" }, { "name": "CADM3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120645", "id": "NP_001120645" }, { "name": "IGSF4B", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8N126", "id": "Q8N126" }, { "name": "NECL1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8N126", "id": "Q8N126" }, { "name": "PRO258", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8N126", "id": "Q8N126" }, { "name": "SYNCAM3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8N126", "id": "Q8N126" }, { "name": "TSLL1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8N126", "id": "Q8N126" } ], "protein_names": [ { "name": "Cell adhesion molecule 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q8N126" }, { "name": "Brain immunoglobulin receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8N126" }, { "name": "IgSF4B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8N126" }, { "name": "Immunoglobulin superfamily member 4B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8N126" }, { "name": "NECL-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8N126" }, { "name": "Nectin-like protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8N126" }, { "name": "SynCAM3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8N126" }, { "name": "Synaptic cell adhesion molecule 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8N126" }, { "name": "TSLC1-like protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8N126" }, { "name": "TSLL1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8N126" }, { "name": "brain immunoglobulin receptor; TSLC1-like 1; synaptic cell adhesion molecule 3; immunoglobulin superfamily member 4B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120645", "id": "NP_001120645" }, { "name": "cell adhesion molecule 3 isoform 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120645", "id": "NP_001120645" } ], "function": [ { "annotation": "A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement. Erratum:[Brain. 2021 Aug 17;144(7):e64. PMID: 34037698]", "evidence": [ { "database": "RefSeq", "id": "NP_001120645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120645" }, { "database": "PubMed", "id": "33889941", "url": "https://glygen.org/publication/PubMed/33889941" } ] }, { "annotation": "CADM3 expression was increased in retinoblastoma tissues and cells. miR-140-5p inhibited CADM3 expression possibly by targeting the 3'-UTR. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001120645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120645" }, { "database": "PubMed", "id": "29808799", "url": "https://glygen.org/publication/PubMed/29808799" } ] }, { "annotation": "Crystallographic analysis of human Nectin-like molecule-1/Syncam3/Tsll1/Igsf4b, a neural tissue-specific immunoglobulin-like cell-cell adhesion molecule", "evidence": [ { "database": "RefSeq", "id": "NP_001120645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120645" }, { "database": "PubMed", "id": "16467305", "url": "https://glygen.org/publication/PubMed/16467305" } ] }, { "annotation": "Involved in the cell-cell adhesion. Has both calcium-independent homophilic cell-cell adhesion activity and calcium-independent heterophilic cell-cell adhesion activity with IGSF4, NECTIN1 and NECTIN3. Interaction with EPB41L1 may regulate structure or function of cell-cell junctions (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "Q8N126", "url": "https://www.uniprot.org/uniprot/Q8N126#function" } ] }, { "annotation": "Necl-1 is a neural-tissue-specific Ca2+-independent immunoglobulin-like cell-cell adhesion molecule which potentially has membrane-associated guanylate kinase subfamily member-binding activity and localizes at the non-junctional cell-cell contact sites", "evidence": [ { "database": "RefSeq", "id": "NP_001120645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120645" }, { "database": "PubMed", "id": "15741237", "url": "https://glygen.org/publication/PubMed/15741237" } ] }, { "annotation": "Nectin-based cell-cell adhesion was formed at the apical side of the junctional adhesion molecule (JAM)-based cell-cell adhesion; cadherin and claudin were recruited to the nectin-3 and JAM-based cell-cell adhesion sites to form AJ- and TJ-like domains.", "evidence": [ { "database": "RefSeq", "id": "NP_001120645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120645" }, { "database": "PubMed", "id": "24112238", "url": "https://glygen.org/publication/PubMed/24112238" } ] }, { "annotation": "The protein encoded by this gene is a calcium-independent cell-cell adhesion protein that can form homodimers or heterodimers with other nectin proteins. The encoded protein has both homophilic and heterophilic cell-cell adhesion activity. This gene is reported to be a tumor suppressor gene. [provided by RefSeq, Oct 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_001120645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120645" } ] } ], "disease": [ { "disease_id": "MONDO:0030433", "recommended_name": { "id": "MONDO:0030433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030433", "name": "Charcot-Marie-Tooth disease, axonal, type 2FF", "description": "" }, "synonyms": [ { "id": "MONDO:0030433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030433", "name": "CMT2FF", "description": "" }, { "id": "MONDO:0030433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030433", "name": "Charcot-Marie-Tooth neuropathy", "description": "" }, { "id": "MIM:619519", "resource": "MIM", "url": "https://www.omim.org/entry/619519", "name": "Charcot-Marie-Tooth disease, axonal, 2FF", "description": "Charcot-Marie-Tooth disease, axonal, 2FF" } ], "evidence": [ { "id": "619519", "database": "MIM", "url": "https://www.omim.org/entry/619519" } ] } ], "snv": [ { "evidence": [ { "id": "rs1459484598", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1459484598" }, { "id": "rs1459484598", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1459484598#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 101, "end_pos": 101, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVA->NVT).", "chr_id": "1", "chr_pos": "159192649", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A101", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1403587895", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1403587895" }, { "id": "rs1403587895", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1403587895" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 112, "end_pos": 112, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IFT->NFT).", "chr_id": "1", "chr_pos": "159192683", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I112", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1392018025", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1392018025" }, { "id": "rs1392018025", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1392018025" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 29, "end_pos": 29, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DDS->NDS).", "chr_id": "1", "chr_pos": "159171850", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D29", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q8N126", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q8N126" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 319, "end_pos": 319, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NDP->NDT).", "chr_id": "1", "chr_pos": "159199753", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P319", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs764942306", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764942306" }, { "id": "rs764942306", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764942306" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 57, "end_pos": 57, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "1", "chr_pos": "159192016", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D57", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q8N126", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q8N126" } ], "glycoeffect": [], "start_pos": 82, "end_pos": 82, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "159192593", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R82", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": 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"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 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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", 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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 - 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", 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"name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "Q8N126", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8N126" } ], "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/Q8N126" } ], "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 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "Q8N126", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8N126" } ], "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": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q8N126", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8N126" } ], "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": "Q8N126", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8N126" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "Q8N126", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8N126" } ], "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": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "Q8N126", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8N126" } ], "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": 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Classification" ] }, { "id": "hsa:57863", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:57863", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "609743", "url": "http://www.omim.org/entry/609743", "database": "MIM", "categories": [ "Other" ] }, { "id": "619519", "url": "http://www.omim.org/entry/619519", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_Q8N126", "url": "https://www.nextprot.org/entry/NX_Q8N126", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "Q8N126", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N126", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "MTQERAL", "url": "https://omabrowser.org/oma/group/MTQERAL/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3039994at2759", "url": "http://www.orthodb.org/?query=3039994at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR45889", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45889", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45889:SF5", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45889:SF5", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1Z9M", "url": "https://www.rcsb.org/structure/1Z9M", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF07686", "url": "http://pfam.xfam.org/family/PF07686", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF08205", "url": "http://pfam.xfam.org/family/PF08205", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13927", "url": "http://pfam.xfam.org/family/PF13927", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q8N126", "url": "https://pharos.nih.gov/targets/Q8N126", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q8N126", "url": "http://purl.obolibrary.org/obo/PR_Q8N126", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-418990", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418990", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-420597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420597", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001120645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120645", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A0C4DG09", "url": "https://www.uniprot.org/uniprot/A0A0C4DG09", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0C4DG09-1", "url": "https://www.uniprot.org/uniprot/A0A0C4DG09-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8N126", "url": "https://www.uniprot.org/uniprot/Q8N126", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8N126-1", "url": "https://www.uniprot.org/uniprot/Q8N126-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8N126-2", "url": "https://www.uniprot.org/uniprot/Q8N126-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8N126-3", "url": "https://www.uniprot.org/uniprot/Q8N126-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGAPAASLLLLLLLFACCWAPGGANLSQDDSQPWTSDETVVAGGTVVLKCQVKDHEDSSLQWSNPAQQTLYFGEKRALRDNRIQLVTSTPHELSISISNVALADEGEYTCSIFTMPVRTAKSLVTVLGIPQKPIITGYKSSLREKDTATLNCQSSGSKPAARLTWRKGDQELHGEPTRIQEDPNGKTFTVSSSVTFQVTREDDGASIVCSVNHESLKGADRSTSQRIEVLYTPTAMIRPDPPHPREGQKLLLHCEGRGNPVPQQYLWEKEGSVPPLKMTQESALIFPFLNKSDSGTYGCTATSNMGSYKAYYTLNVNDPSPVPSSSSTYHAIIGGIVAFIVFLLLIMLIFLGHYLIRHKGTYLTHEAKGSDDAPDADTAIINAEGGQSGGDDKKEYFI", "length": 398, "header": "sp|Q8N126-1|CADM3_HUMAN Isoform 1 of Cell adhesion molecule 3 OS=Homo sapiens OX=9606 GN=CADM3 PE=1 SV=1 CANONICAL=Q8N126-1" }, "isoforms": [ { "isoform_ac": "A0A0C4DG09-1", "url": "", "sequence": { "sequence": "MGAPAASLLLLLLLFACCWAPGGANLSQDDSQPWTSDETVVAGGTVVLKCQVKDHEDSSLQWSNPAQQTLYFGEKRALRDNRIQLVTSTPHELSISISNVALADEGEYTCSIFTMPVRTAKSLVTVLGIPQKPIITGYKSSLREKDTATLNCQSSGSKPAARLTWRKGDQELHGEPTRIQEDPNDTPTAMIRPDPPHPREGQKLLLHCEGRGNPVPQQYLWEKEGSVPPLKMTQ", "length": 234, "header": "tr|A0A0C4DG09-1|A0A0C4DG09_HUMAN Computationally mapped isoform of Cell adhesion molecule 3 OS=Homo sapiens OX=9606 GN=CADM3 PE=1 SV=1 CANONICAL=Q8N126-1" }, "locus": { "chromosome": "1", "start_pos": 159196948, "end_pos": 159171766, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000416746.1", "url": "https://www.ensembl.org/id/ENST00000416746.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000387802.1", "url": "https://www.ensembl.org/id/ENSP00000387802.1" } ] } }, { "isoform_ac": "Q8N126-1", "url": "", "sequence": { "sequence": "MGAPAASLLLLLLLFACCWAPGGANLSQDDSQPWTSDETVVAGGTVVLKCQVKDHEDSSLQWSNPAQQTLYFGEKRALRDNRIQLVTSTPHELSISISNVALADEGEYTCSIFTMPVRTAKSLVTVLGIPQKPIITGYKSSLREKDTATLNCQSSGSKPAARLTWRKGDQELHGEPTRIQEDPNGKTFTVSSSVTFQVTREDDGASIVCSVNHESLKGADRSTSQRIEVLYTPTAMIRPDPPHPREGQKLLLHCEGRGNPVPQQYLWEKEGSVPPLKMTQESALIFPFLNKSDSGTYGCTATSNMGSYKAYYTLNVNDPSPVPSSSSTYHAIIGGIVAFIVFLLLIMLIFLGHYLIRHKGTYLTHEAKGSDDAPDADTAIINAEGGQSGGDDKKEYFI", "length": 398, "header": "sp|Q8N126-1|CADM3_HUMAN Isoform 1 of Cell adhesion molecule 3 OS=Homo sapiens OX=9606 GN=CADM3 PE=1 SV=1 CANONICAL=Q8N126-1" }, "locus": { "chromosome": "1", "start_pos": 159200919, "end_pos": 159171766, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000368125.9", "url": "https://www.ensembl.org/id/ENST00000368125.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000357107.4", "url": "https://www.ensembl.org/id/ENSP00000357107.4" } ] } }, { "isoform_ac": "Q8N126-2", "url": "", "sequence": { "sequence": "MGAPAASLLLLLLLFACCWAPGGANLSQDGYWQEQDLELGTLAPLDEAISSTVWSSPDMLASQDSQPWTSDETVVAGGTVVLKCQVKDHEDSSLQWSNPAQQTLYFGEKRALRDNRIQLVTSTPHELSISISNVALADEGEYTCSIFTMPVRTAKSLVTVLGIPQKPIITGYKSSLREKDTATLNCQSSGSKPAARLTWRKGDQELHGEPTRIQEDPNGKTFTVSSSVTFQVTREDDGASIVCSVNHESLKGADRSTSQRIEVLYTPTAMIRPDPPHPREGQKLLLHCEGRGNPVPQQYLWEKEGSVPPLKMTQESALIFPFLNKSDSGTYGCTATSNMGSYKAYYTLNVNDPSPVPSSSSTYHAIIGGIVAFIVFLLLIMLIFLGHYLIRHKGTYLTHEAKGSDDAPDADTAIINAEGGQSGGDDKKEYFI", "length": 432, "header": "sp|Q8N126-2|CADM3_HUMAN Isoform 2 of Cell adhesion molecule 3 OS=Homo sapiens OX=9606 GN=CADM3 PE=1 SV=1 CANONICAL=Q8N126-1" }, "locus": { "chromosome": "1", "start_pos": 159200919, "end_pos": 159171766, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000368124.8", "url": "https://www.ensembl.org/id/ENST00000368124.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000357106.4", "url": "https://www.ensembl.org/id/ENSP00000357106.4" } ] } }, { "isoform_ac": "Q8N126-3", "url": "", "sequence": { "sequence": "MGAPAASLLLLLLLFACCWAPGGANLSQDDSQPWTSDETVVAGGTVVLKCQVKDHEDSSLQWSNPAQQTLYFGEKRALRDNRIQLVTSTPHELSISISNVALADEGEYTCSIFTMPVRTAKSLVTVLGIPQKPIITGYKSSLREKDTATLNCQSSGSKPAARLTWRKGDQELHGEPTRIQEDPNDTPTAMIRPDPPHPREGQKLLLHCEGRGNPVPQQYLWEKEGSVPPLKMTQESALIFPFLNKSDSGTYGCTATSNMGSYKAYYTLNVNDPSPVPSSSSTYHAIIGGIVAFIVFLLLIMLIFLGHYLIRHKGTYLTHEAKGSDDAPDADTAIINAEGGQSGGDDKKEYFI", "length": 352, "header": "sp|Q8N126-3|CADM3_HUMAN Isoform 3 of Cell adhesion molecule 3 OS=Homo sapiens OX=9606 GN=CADM3 PE=1 SV=1 CANONICAL=Q8N126-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 290, "start_aa": "Asn", "end_pos": 290, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn290", "evidence": [ { "id": "Q8N126", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8N126#ptm_processing" }, { "id": "18420026", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18420026" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "Q8N126", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N126" }, { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" } ] } ], "phosphorylation": [ { "start_pos": 388, "end_pos": 388, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8N126", "url": "https://www.uniprot.org/uniprot/Q8N126" } ], "site_lbl": "Ser388" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Nectin/PRR: an immunoglobulin-like cell adhesion molecule recruited to cadherin-based adherens junctions through interaction with Afadin, a PDZ domain-containing protein.", "journal": "The Journal of cell biology", "date": "1999", "authors": "Takahashi K, Nakanishi H, Miyahara M, Mandai K, Satoh K, Satoh A, Nishioka H, Aoki J, Nomoto A, Mizoguchi A, Takai Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-418990", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418990" } ], "reference": [ { "type": "PubMed", "id": "10225955", "url": "https://glygen.org/publication/PubMed/10225955" } ] }, { "title": "Isolation of the TSLL1 and TSLL2 genes, members of the tumor suppressor TSLC1 gene family encoding transmembrane proteins.", "journal": "Oncogene", "date": "2001", "authors": "Fukuhara H, Kuramochi M, Nobukuni T, Fukami T, Saino M, Maruyama T, Nomura S, Sekiya T, Murakami Y", "evidence": [ { "database": "UniProtKB", "id": "Q8N126", "url": "https://www.uniprot.org/uniprot/Q8N126" } ], "reference": [ { "type": "PubMed", "id": "11536053", "url": "https://glygen.org/publication/PubMed/11536053" } ] }, { "title": "Nectin4/PRR4, a new afadin-associated member of the nectin family that trans-interacts with nectin1/PRR1 through V domain interaction.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Reymond N, Fabre S, Lecocq E, Adelaide J, Dubreuil P, Lopez M", "evidence": [ { "database": "Reactome", "id": "R-HSA-420597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420597" } ], "reference": [ { "type": "PubMed", "id": "11544254", "url": "https://glygen.org/publication/PubMed/11544254" } ] }, { "title": "The tumor suppressor protein TSLC1 is involved in cell-cell adhesion.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Masuda M, Yageta M, Fukuhara H, Kuramochi M, Maruyama T, Nomoto A, Murakami Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-418990", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418990" } ], "reference": [ { "type": "PubMed", "id": "12050160", "url": "https://glygen.org/publication/PubMed/12050160" } ] }, { "title": "Recruitment of nectin-3 to cell-cell junctions through trans-heterophilic interaction with CD155, a vitronectin and poliovirus receptor that localizes to alpha(v)beta3 integrin-containing membrane microdomains.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Mueller S, Wimmer E", "evidence": [ { "database": "Reactome", "id": "R-HSA-420597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420597" } ], "reference": [ { "type": "PubMed", "id": "12759359", "url": "https://glygen.org/publication/PubMed/12759359" } ] }, { "title": "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.", "journal": "Genome Res.", "date": "2003", "authors": "Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A", "evidence": [ { "database": "UniProtKB", "id": "Q8N126", "url": "https://www.uniprot.org/uniprot/Q8N126" } ], "reference": [ { "type": "PubMed", "id": "12975309", "url": "https://glygen.org/publication/PubMed/12975309" } ] }, { "title": "Signal peptide prediction based on analysis of experimentally verified cleavage sites.", "journal": "Protein Sci.", "date": "2004", "authors": "Zhang Z, Henzel WJ", "evidence": [ { "database": "UniProtKB", "id": "Q8N126", "url": "https://www.uniprot.org/uniprot/Q8N126" } ], "reference": [ { "type": "PubMed", "id": "15340161", "url": "https://glygen.org/publication/PubMed/15340161" } ] }, { "title": "Nectin-like molecule-1/TSLL1/SynCAM3: a neural tissue-specific immunoglobulin-like cell-cell adhesion molecule localizing at non-junctional contact sites of presynaptic nerve terminals, axons and glia cell processes.", "journal": "Journal of cell science", "date": "2005", "authors": "Kakunaga S, Ikeda W, Itoh S, Deguchi-Tawarada M, Ohtsuka T, Mizoguchi A, Takai Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-420597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420597" }, { "database": "RefSeq", "id": "NP_001120645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120645" } ], "reference": [ { "type": "PubMed", "id": "15741237", "url": "https://glygen.org/publication/PubMed/15741237" } ] }, { "title": "Nectin-like molecule 1 is a protein 4.1N associated protein and recruits protein 4.1N from cytoplasm to the plasma membrane.", "journal": "Biochim. Biophys. Acta", "date": "2005", "authors": "Hu X., Huang X., Liu J., Liu Y., Qiang B., Yuan J., Zhou Y., Peng X., Xu Y., Yu S., Du G., Yin B., Fan M.", "evidence": [ { "database": "UniProtKB", "id": "Q8N126", "url": "https://www.uniprot.org/uniprot/Q8N126" } ], "reference": [ { "type": "PubMed", "id": "15893517", "url": "https://glygen.org/publication/PubMed/15893517" } ] }, { "title": "Crystal structure of the V domain of human Nectin-like molecule-1/Syncam3/Tsll1/Igsf4b, a neural tissue-specific immunoglobulin-like cell-cell adhesion molecule.", "journal": "J. Biol. Chem.", "date": "2006", "authors": "Dong X, Xu F, Gong Y, Gao J, Lin P, Chen T, Peng Y, Qiang B, Yuan J, Peng X, Rao Z", "evidence": [ { "database": "UniProtKB", "id": "Q8N126", "url": "https://www.uniprot.org/uniprot/Q8N126" }, { "database": "Reactome", "id": "R-HSA-418990", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418990" }, { "database": "RefSeq", "id": "NP_001120645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120645" } ], "reference": [ { "type": "PubMed", "id": "16467305", "url": "https://glygen.org/publication/PubMed/16467305" } ] }, { "title": "The adhesion molecule Necl-3/SynCAM-2 localizes to myelinated axons, binds to oligodendrocytes and promotes cell adhesion.", "journal": "BMC neuroscience", "date": "2007", "authors": "Pellissier F, Gerber A, Bauer C, Ballivet M, Ossipow V", "evidence": [ { "database": "Reactome", "id": "R-HSA-418990", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418990" } ], "reference": [ { "type": "PubMed", "id": "17967169", "url": "https://glygen.org/publication/PubMed/17967169" } ] }, { "title": "Nectin-like molecule 1 is a glycoprotein with a single N-glycosylation site at N290KS which influences its adhesion activity.", "journal": "Biochimica et biophysica acta", "date": "2008", "authors": "Gao J, Chen T, Hu G, Gong Y, Qiang B, Yuan J, Peng X", "evidence": [ { "database": "UniProtKB", "id": "Q8N126", "url": "https://www.uniprot.org/uniprot/Q8N126#ptm_processing" }, { "database": "UniProtKB", "id": "Q8N126", "url": "https://www.uniprot.org/uniprot/Q8N126" } ], "reference": [ { "type": "PubMed", "id": "18420026", "url": "https://glygen.org/publication/PubMed/18420026" } ] }, { "title": "Ribonuclease inhibitor regulates neovascularization by human angiogenin.", "journal": "Biochemistry", "date": "2009", "authors": "Dickson KA, Kang DK, Kwon YS, Kim JC, Leland PA, Kim BM, Chang SI, Raines RT", "evidence": [ { "database": "Reactome", "id": "R-HSA-418990", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418990" } ], "reference": [ { "type": "PubMed", "id": "19354288", "url": "https://glygen.org/publication/PubMed/19354288" } ] }, { "title": "Nectin and junctional adhesion molecule are critical cell adhesion molecules for the apico-basal alignment of adherens and tight junctions in epithelial cells.", "journal": "Genes to cells : devoted to molecular & cellular mechanisms", "date": "2013", "authors": "Yamada T, Kuramitsu K, Rikitsu E, Kurita S, Ikeda W, Takai Y", "evidence": [ { "database": "RefSeq", "id": "NP_001120645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120645" } ], "reference": [ { "type": "PubMed", "id": "24112238", "url": "https://glygen.org/publication/PubMed/24112238" } ] }, { "title": "Computational and functional characterization of Angiogenin mutations, and correlation with amyotrophic lateral sclerosis.", "journal": "PloS one", "date": "2014", "authors": "Padhi AK, Banerjee K, Gomes J, Banerjee M", "evidence": [ { "database": "Reactome", "id": "R-HSA-418990", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418990" } ], "reference": [ { "type": "PubMed", "id": "25372031", "url": "https://glygen.org/publication/PubMed/25372031" } ] }, { "title": "A novel strategy for global mapping of O-GlcNAc proteins and peptides using selective enzymatic deglycosylation, HILIC enrichment and mass spectrometry identification.", "journal": "Talanta", "date": "2017", "authors": "Shen B, Zhang W, Shi Z, Tian F, Deng Y, Sun C, Wang G, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N126", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N126" } ], "reference": [ { "type": "PubMed", "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811" } ] }, { "title": "miR-140-5p suppresses retinoblastoma cell proliferation, migration, and invasion by targeting CEMIP and CADM3.", "journal": "Cellular and molecular biology (Noisy-le-Grand, France)", "date": "2018", "authors": "Miao X, Wang Z, Chen B, Chen Y, Wang X, Jiang L, Jiang S, Hao K, Zhang W", "evidence": [ { "database": "RefSeq", "id": "NP_001120645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120645" } ], "reference": [ { "type": "PubMed", "id": "29808799", "url": "https://glygen.org/publication/PubMed/29808799" } ] }, { "title": "A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.", "journal": "Brain", "date": "2021", "authors": "Rebelo AP, Cortese A, Abraham A, Eshed-Eisenbach Y, Shner G, Vainshtein A, Buglo E, Camarena V, Gaidosh G, Shiekhattar R, Abreu L, Courel S, Burns DK, Bai Y, Bacon C, Feely SME, Castro D, Peles E, Reilly MM, Shy ME, Zuchner S", "evidence": [ { "database": "UniProtKB", "id": "Q8N126", "url": "https://www.uniprot.org/uniprot/Q8N126" }, { "database": "RefSeq", "id": "NP_001120645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120645" } ], "reference": [ { "type": "PubMed", "id": "33889941", "url": 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