{ "uniprot_canonical_ac": "P08034-1", "uniprot_ac": "P08034", "uniprot_id": "CXB1_HUMAN", "mass": { "chemical_mass": 32025.0, "monoisotopic_mass": 32025.0 }, "refseq": { "ac": "NP_000157", "name": "gap junction beta-1 protein", "summary": "This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000157" }, "gene_names": [ { "name": "GJB1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P08034", "id": "P08034" }, { "name": "CMTX; CMTX1; CX32", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000157", "id": "NP_000157" }, { "name": "CX32", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P08034", "id": "P08034" }, { "name": "GJB1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000157", "id": "NP_000157" } ], "protein_names": [ { "name": "Gap junction beta-1 protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P08034" }, { "name": "Connexin-32", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08034" }, { "name": "Cx32", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08034" }, { "name": "GAP junction 28 kDa liver protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08034" }, { "name": "gap junction beta-1 protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000157", "id": "NP_000157" }, { "name": "gap junction protein, beta 1, 32kDa; connexin-32; GAP junction 28 kDa liver protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000157", "id": "NP_000157" } ], "function": [ { "annotation": "A novel splicing mutation in 5'UTR of GJB1 causes X-linked Charcot-Marie-tooth disease.", "evidence": [ { "database": "RefSeq", "id": "NP_000157", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000157" }, { "database": "PubMed", "id": "36394156", "url": "https://glygen.org/publication/PubMed/36394156" } ] }, { "annotation": "Connexin32 regulates expansion of liver cancer stem cells via the PI3K/Akt signaling pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_000157", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000157" }, { "database": "PubMed", "id": "35894130", "url": "https://glygen.org/publication/PubMed/35894130" } ] }, { "annotation": "GJB1 variants in Charcot-Marie-Tooth disease X-linked type 1 in Mali.", "evidence": [ { "database": "RefSeq", "id": "NP_000157", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000157" }, { "database": "PubMed", "id": "35383424", "url": "https://glygen.org/publication/PubMed/35383424" } ] }, { "annotation": "Identification of a rare missense mutation in GJB1 and prenatal diagnosis in a Chinese family with CMT: A case report.", "evidence": [ { "database": "RefSeq", "id": "NP_000157", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000157" }, { "database": "PubMed", "id": "36397455", "url": "https://glygen.org/publication/PubMed/36397455" } ] }, { "annotation": "One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.", "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprot/P08034#function" } ] }, { "annotation": "This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000157", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000157" } ] } ], "disease": [ { "disease_id": "DOID:0050540", "recommended_name": { "id": "DOID:0050540", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050540", "name": "Charcot-Marie-Tooth disease type 3", "description": "A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination." }, "synonyms": [ { "id": "DOID:0050540", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050540", "name": "DEJERINE-SOTTAS NEUROPATHY", "description": "" }, { "id": "DOID:0050540", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050540", "name": "DEJERINE-SOTTAS SYNDROME", "description": "" }, { "id": "MONDO:0007790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007790", "name": "Charcot-Marie-Tooth disease type 3", "description": "" }, { "id": "MONDO:0007790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007790", "name": "CMT3", "description": "" }, { "id": "MONDO:0007790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007790", "name": "Charcot-Marie-Tooth disease type 3", "description": "" }, { "id": "MONDO:0007790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007790", "name": "Charcot-Marie-Tooth disease, type 3", "description": "" }, { "id": "MONDO:0007790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007790", "name": "Dejerine-Sottas neuropathy", "description": "" }, { "id": "MONDO:0007790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007790", "name": "Dejerine-Sottas syndrome", "description": "" }, { "id": "MONDO:0007790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007790", "name": "HMSN 3", "description": "" }, { "id": "MONDO:0007790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007790", "name": "HMSN III", "description": "" }, { "id": "MONDO:0007790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007790", "name": "HMSN3", "description": "" }, { "id": "MONDO:0007790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007790", "name": "dejerine-sottas disease", "description": "" }, { "id": "MONDO:0007790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007790", "name": "hereditary motor and sensory neuropathy type 3", "description": "" }, { "id": "MONDO:0007790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007790", "name": "hereditary motor and sensory neuropathy type III", "description": "" }, { "id": "MONDO:0007790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007790", "name": "hypertrophic neuropathy of Dejerine-Sottas", "description": "" }, { "id": "MONDO:0007790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007790", "name": "DSN", "description": "" }, { "id": "MONDO:0007790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007790", "name": "hereditary motor and sensory neuropathy 3", "description": "" }, { "id": "MONDO:0007790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007790", "name": "hypertrophic neuropathy of infancy", "description": "" }, { "id": "MIM:145900", "resource": "MIM", "url": "https://www.omim.org/entry/145900", "name": "Dejerine-Sottas syndrome", "description": "Dejerine-Sottas syndrome" } ], "evidence": [ { "id": "145900", "database": "MIM", "url": "https://www.omim.org/entry/145900" } ] }, { "disease_id": "DOID:0110209", "recommended_name": { "id": "DOID:0110209", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110209", "name": "Charcot-Marie-Tooth disease X-linked dominant 1", "description": "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13." }, "synonyms": [ { "id": "DOID:0110209", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110209", "name": "CMT1X", "description": "" }, { "id": "DOID:0110209", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110209", "name": "CMTX1", "description": "" }, { "id": "DOID:0110209", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110209", "name": "Charcot-Marie-Tooth neuropathy X-linked dominant 1", "description": "" }, { "id": "DOID:0110209", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110209", "name": "X-linked Charcot-Marie-Tooth disease type 1", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "Charcot-Marie-Tooth disease X-linked dominant 1", "description": "Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females." }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "CMT2", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "CMT2, formerly", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "CMTX", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "HMSN, X-linked", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "hereditary motor and sensory neuropathy, X-linked", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "CMTX 1", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "CMTX1", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "Charcot Marie Tooth disease X-linked 1", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "Charcot-Marie-Tooth disease X-linked dominant 1", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "Charcot-Marie-Tooth disease X-linked dominant type 1", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "Charcot-Marie-Tooth disease type X caused by mutation in GJB1", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "Charcot-Marie-Tooth disease, X-linked dominant, 1", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "Charcot-Marie-Tooth disease, X-linked dominant, type 1", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "Charcot-Marie-Tooth disease, X-linked, 1", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "Charcot-Marie-Tooth neuropathy X type 1", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "Charcot-Marie-Tooth neuropathy X-linked dominant 1", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, X-linked dominant", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "Charcot-Marie-Tooth neuropathy, X-linked, 1", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "GJB1 Charcot-Marie-Tooth disease type X", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "X-linked Charcot-Marie-Tooth disease type 1", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "CMT1X", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "Charcot-Marie-Tooth peroneal muscular atrophy, X-linked", "description": "" }, { "id": "MIM:302800", "resource": "MIM", "url": "https://www.omim.org/entry/302800", "name": "Charcot-Marie-Tooth disease, X-linked dominant, 1", "description": "Charcot-Marie-Tooth disease, X-linked dominant, 1" } ], "evidence": [ { "id": "302800", "database": "MIM", "url": "https://www.omim.org/entry/302800" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "85.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169562", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169562" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "64.04", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000169562", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169562" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "85.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169562", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169562" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "85.57", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169562", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169562" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "47.06", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000169562", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169562" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "88.6", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169562", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169562" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "84.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169562", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169562" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "57.51", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000169562", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169562" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "51.16", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000169562", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169562" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "71.97", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000169562", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169562" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "96.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169562", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169562" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "78.8", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169562", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169562" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "57.88", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000169562", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169562" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P08034", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08034" } ], "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", 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"Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P08034", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08034" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P08034", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08034" } ], "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 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": 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visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene.", "journal": "Journal of neurology, neurosurgery, and psychiatry", "date": "1999", "authors": "Bahr M, Andres F, Timmerman V, Nelis ME, Van Broeckhoven C, Dichgans J", "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprot/P08034" } ], "reference": [ { "type": "PubMed", "id": "10071100", "url": "https://glygen.org/publication/PubMed/10071100" } ] }, { "title": "Synthesis and assembly of connexins in vitro into homomeric and heteromeric functional gap junction hemichannels.", "journal": "The Biochemical journal", "date": "1999", "authors": "Ahmad S, Diez JA, George CH, Evans WH", "evidence": [ { "database": "Reactome", "id": "R-HSA-190861", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190861" } ], "reference": [ { "type": "PubMed", "id": "10191254", "url": "https://glygen.org/publication/PubMed/10191254" } ] }, { "title": "Three novel mutations in the gap junction beta 1 (GJB1) gene coding region identified in Charcot-Marie-Tooth patients of Greek origin: T55I, R164Q, V120E. Mutation in brief no 236. Online.", "journal": "Human mutation", "date": "1999", "authors": "Karadimas C, Panas M, Chronopoulou P, Avramopoulos D, Vassilopoulos D", "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprot/P08034" } ], "reference": [ { "type": "PubMed", "id": "10220155", "url": "https://glygen.org/publication/PubMed/10220155" } ] }, { "title": "Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "1999", "authors": "Castro C, Gomez-Hernandez JM, Silander K, Barrio LC", "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprot/P08034" } ], "reference": [ { "type": "PubMed", "id": "10234007", "url": "https://glygen.org/publication/PubMed/10234007" } ] }, { "title": "HMSN and HNPP. Laboratory service provision in the south west of England--two years' experience.", "journal": "Annals of the New York Academy of Sciences", "date": "1999", "authors": "Williams MM, Tyfield LA, Jardine P, Lunt PW, Stevens DL, Turnpenny PD", "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprot/P08034" } ], "reference": [ { "type": "PubMed", "id": "10586284", "url": "https://glygen.org/publication/PubMed/10586284" } ] }, { "title": "Analysis of gap junction assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked disease.", "journal": "Journal of neurochemistry", "date": "2000", "authors": "Martin PE, Mambetisaeva ET, Archer DA, George CH, Evans WH", "evidence": [ { "database": "Reactome", "id": "R-HSA-190704", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190704" } ], "reference": [ { "type": "PubMed", "id": "10646523", "url": "https://glygen.org/publication/PubMed/10646523" } ] }, { "title": "Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population.", "journal": "Neurogenetics", "date": "1997", "authors": "Latour P, Levy N, Paret M, Chapon F, Chazot G, Clavelou P, Couratier P, Dumas R, Ollagnon E, Pouget J, Setiey A, Vallat JM, Boucherat M, Fontes M, Vandenberghe A", "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprot/P08034" } ], "reference": [ { "type": "PubMed", "id": "10732813", "url": "https://glygen.org/publication/PubMed/10732813" } ] }, { "title": "Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.", "journal": "Human mutation", "date": "2000", "authors": "Mersiyanova IV, Ismailov SM, Polyakov AV, Dadali EL, Fedotov VP, Nelis E, Lofgren A, Timmerman V, van Broeckhoven C, Evgrafov OV", "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprot/P08034" } ], "reference": [ { "type": "PubMed", "id": "10737979", "url": "https://glygen.org/publication/PubMed/10737979" } ] }, { "title": "X-linked Charcot-Marie-Tooth disease and connexin32.", "journal": "Cell biology international", "date": "1998", "authors": "Ionasescu VV", "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprot/P08034" } ], "reference": [ { "type": "PubMed", "id": "10873293", "url": "https://glygen.org/publication/PubMed/10873293" } ] }, { "title": "Severe X-linked Charcot-Marie-Tooth neuropathy due to new mutations [G59R(G-->C), W44X(G-->A)] in the connexin 32 gene.", "journal": "European neurology", "date": "2000", "authors": "Felice KJ, Seltzer WK", "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprot/P08034" } ], "reference": [ { "type": "PubMed", "id": "10894999", "url": "https://glygen.org/publication/PubMed/10894999" } ] }, { "title": "Mutations in the peripheral myelin protein zero and connexin32 genes detected by 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Wu Bei, Mou Jing, Ma Xingwei", "evidence": [ { "database": "RefSeq", "id": "NP_000157", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000157" } ], "reference": [ { "type": "PubMed", "id": "36397455", "url": "https://glygen.org/publication/PubMed/36397455" } ] }, { "title": "New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.", "journal": "Neurology", "date": "1995", "authors": "Bone LJ, Dahl N, Lensch MW, Chance PF, Kelly T, Le Guern E, Magi S, Parry G, Shapiro H, Wang S, et al.", "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprot/P08034" } ], "reference": [ { "type": "PubMed", "id": "7477983", "url": "https://glygen.org/publication/PubMed/7477983" } ] }, { "title": "X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin32.", "journal": "Human molecular genetics", "date": "1994", "authors": "Orth U, Fairweather N, Exler MC, Schwinger E, Gal A", "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprot/P08034" } ], "reference": [ { "type": "PubMed", "id": "7833935", "url": "https://glygen.org/publication/PubMed/7833935" } ] }, { "title": "Membrane insertion of gap junction connexins: polytopic channel forming membrane proteins.", "journal": "The Journal of cell biology", "date": "1994", "authors": "Falk MM, Kumar NM, Gilula NB", "evidence": [ { "database": "Reactome", "id": "R-HSA-190861", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190861" } ], "reference": [ { "type": "PubMed", "id": "7929580", "url": "https://glygen.org/publication/PubMed/7929580" } ] }, { "title": "Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy.", "journal": "Human molecular genetics", "date": "1994", "authors": "Ionasescu V, Searby C, Ionasescu R", "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprot/P08034" } ], "reference": [ { "type": "PubMed", "id": "8004109", "url": "https://glygen.org/publication/PubMed/8004109" } ] }, { "title": "Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)", "journal": "Human molecular genetics", "date": "1994", "authors": "Fairweather N, Bell C, Cochrane S, Chelly J, Wang S, Mostacciuolo ML, Monaco AP, Haites NE", "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprot/P08034" } ], "reference": [ { "type": "PubMed", "id": "8162049", "url": "https://glygen.org/publication/PubMed/8162049" } ] }, { "title": "Connexin mutations in X-linked Charcot-Marie-Tooth disease.", "journal": "Science (New York, N.Y.)", "date": "1993", "authors": "Bergoffen J, Scherer SS, Wang S, Scott MO, Bone LJ, Paul DL, Chen K, Lensch MW, Chance PF, Fischbeck KH", "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprot/P08034" } ], "reference": [ { "type": "PubMed", "id": "8266101", "url": "https://glygen.org/publication/PubMed/8266101" } ] }, { "title": "Phosphorylation of connexin-32 by protein kinase C prevents its proteolysis by mu-calpain and m-calpain.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Elvira M, Diez JA, Wang KK, Villalobo A", "evidence": [ { "database": "iPTMnet", "id": "P08034", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08034" } ], "reference": [ { "type": "PubMed", "id": "8390988", "url": "https://glygen.org/publication/PubMed/8390988" } ] }, { "title": "Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13.", "journal": "Neurology", "date": "1996", "authors": "Timmerman V, De Jonghe P, Spoelders P, Simokovic S, Lofgren A, Nelis E, Vance J, Martin JJ, Van Broeckhoven C", "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprot/P08034" } ], "reference": [ { "type": "PubMed", "id": "8628473", "url": "https://glygen.org/publication/PubMed/8628473" } ] }, { "title": "X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene.", "journal": "Human genetics", "date": "1996", "authors": "Ressot C, Latour P, Blanquet-Grossard F, Sturtz F, Duthel S, Battin J, Corbillon E, Ollagnon E, Serville F, Vandenberghe A, Dautigny A, Pham-Dinh D", "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprot/P08034" } ], "reference": [ { "type": "PubMed", "id": "8698335", "url": "https://glygen.org/publication/PubMed/8698335" } ] }, { "title": "Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease.", "journal": "Journal of medical genetics", "date": "1996", "authors": "Oterino A, Monton FI, Cabrera VM, Pinto F, Gonzalez A, Lavilla NR", "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprot/P08034" } ], "reference": [ { "type": "PubMed", "id": "8733054", "url": "https://glygen.org/publication/PubMed/8733054" } ] }, { "title": "Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy.", "journal": "American journal of medical genetics", "date": "1996", "authors": "Ionasescu V, Ionasescu R, Searby C", "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprot/P08034" } ], "reference": [ { "type": "PubMed", "id": "8737658", "url": "https://glygen.org/publication/PubMed/8737658" } ] }, { "title": "Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy.", "journal": "Human mutation", "date": "1996", "authors": "Schiavon F, Fracasso C, Mostacciuolo ML", "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprot/P08034" } ], "reference": [ { "type": "PubMed", "id": "8807343", "url": "https://glygen.org/publication/PubMed/8807343" } ] }, { "title": "Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie tooth disease.", "journal": "Human mutation", "date": "1996", "authors": "Tan CC, Ainsworth PJ, Hahn AF, MacLeod PM", "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprot/P08034" } ], "reference": [ { "type": "PubMed", "id": "8829637", "url": "https://glygen.org/publication/PubMed/8829637" } ] }, { "title": "Two novel mutations (C53S, S26L) in the connexin32 of Charcot-Marie-Tooth disease type X families.", "journal": "Human mutation", "date": "1996", "authors": "Yoshimura T, Ohnishi A, Yamamoto T, Fukushima Y, Kitani M, Kobayashi T", "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprot/P08034" } ], "reference": [ { "type": "PubMed", "id": "8889588", "url": "https://glygen.org/publication/PubMed/8889588" } ] }, { "title": "A point mutation in codon 3 of connexin-32 is associated with X-linked Charcot-Marie-Tooth neuropathy.", "journal": "Human mutation", "date": "1996", "authors": "Gupta S, Benstead T, Neumann P, Guernsey D", "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprot/P08034" } ], "reference": [ { "type": "PubMed", "id": "8956046", "url": "https://glygen.org/publication/PubMed/8956046" } ] }, { "title": "Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: identification of five new mutations.", "journal": "Human mutation", "date": "1997", "authors": "Nelis E, Simokovic S, Timmerman V, Lofgren A, Backhovens H, De Jonghe P, Martin JJ, Van Broeckhoven C", "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprot/P08034" } ], "reference": [ { "type": "PubMed", "id": "8990008", "url": "https://glygen.org/publication/PubMed/8990008" } ] }, { "title": "New mutations in the X-linked form of Charcot-Marie-Tooth disease.", "journal": "European neurology", "date": "1997", "authors": "Latour P, Fabreguette A, Ressot C, Blanquet-Grossard F, Antoine JC, Calvas P, Chapon F, Corbillon E, Ollagnon E, Sturtz F, Boucherat M, Chazot G, Dautigny A, Pham-Dinh D, Vandenberghe A", "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprot/P08034" } ], "reference": [ { "type": "PubMed", "id": "9018031", "url": "https://glygen.org/publication/PubMed/9018031" } ] }, { "title": "Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1).", "journal": "Human genetics", "date": "1997", "authors": "Janssen EA, Kemp S, Hensels GW, Sie OG, de Die-Smulders CE, Hoogendijk JE, de Visser M, Bolhuis PA", "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprot/P08034" } ], "reference": [ { "type": "PubMed", "id": "9099841", "url": "https://glygen.org/publication/PubMed/9099841" } ] }, { "title": "Cell-free synthesis and assembly of connexins into functional gap junction membrane channels.", "journal": "The EMBO journal", "date": "1997", "authors": "Falk MM, Buehler LK, Kumar NM, Gilula NB", "evidence": [ { "database": "Reactome", "id": "R-HSA-190704", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190704" } ], "reference": [ { "type": "PubMed", "id": "9184217", "url": "https://glygen.org/publication/PubMed/9184217" } ] }, { "title": "Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.", "journal": "Human genetics", "date": "1997", "authors": "Bort S, Nelis E, Timmerman V, Sevilla T, Cruz-Martinez A, Martinez F, Millan JM, Arpa J, Vilchez JJ, Prieto F, Van Broeckhoven C, Palau F", "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprot/P08034" } ], "reference": [ { "type": "PubMed", "id": "9187667", "url": "https://glygen.org/publication/PubMed/9187667" } ] }, { "title": "Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance.", "journal": "Human genetics", "date": "1997", "authors": "Silander K, Meretoja P, Pihko H, Juvonen V, Issakainen J, Aula P, Savontaus ML", "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprot/P08034" } ], "reference": [ { "type": "PubMed", "id": "9272161", "url": "https://glygen.org/publication/PubMed/9272161" } ] }, { "title": "Connexin32 and X-linked Charcot-Marie-Tooth disease.", "journal": "Neurobiology of disease", "date": "1997", "authors": "Bone LJ, Deschenes SM, Balice-Gordon RJ, Fischbeck KH, Scherer SS", "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprot/P08034" } ], "reference": [ { "type": "PubMed", "id": "9361298", "url": "https://glygen.org/publication/PubMed/9361298" } ] }, { "title": "Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families.", "journal": "Human mutation", "date": "1997", "authors": "Rouger H, LeGuern E, Birouk N, Gouider R, Tardieu S, Plassart E, Gugenheim M, Vallat JM, Louboutin JP, Bouche P, Agid Y, Brice A", "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprot/P08034" } ], "reference": [ { "type": "PubMed", "id": "9401007", "url": "https://glygen.org/publication/PubMed/9401007" } ] }, { "title": "A novel mutation (C201R) in the transmembrane domain of connexin 32 in severe X-linked Charcot-Marie-Tooth disease.", "journal": "Human mutation", "date": "1998", "authors": "Sillen A, Anneren G, Dahl N", "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprot/P08034" } ], "reference": [ { "type": "PubMed", "id": "9452025", "url": "https://glygen.org/publication/PubMed/9452025" } ] }, { "title": "Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1).", "journal": "Human mutation", "date": "1998", "authors": "Sorour E, Upadhyaya M", "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprot/P08034" } ], "reference": [ { "type": "PubMed", "id": "9452099", "url": "https://glygen.org/publication/PubMed/9452099" } ] }, { "title": "Mutations of connexin32 in Charcot-Marie-Tooth disease type X interfere with cell-to-cell communication but not cell proliferation and myelin-specific gene expression.", "journal": "Journal of neuroscience research", "date": "1998", "authors": "Yoshimura T, Satake M, Ohnishi A, Tsutsumi Y, Fujikura Y", "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprot/P08034" } ], "reference": [ { "type": "PubMed", "id": "9469569", "url": "https://glygen.org/publication/PubMed/9469569" } ] }, { "title": "Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.", "journal": "Human mutation", "date": "1998", "authors": "Silander K, Meretoja P, Juvonen V, Ignatius J, Pihko H, Saarinen A, Wallden T, Herrgard E, Aula P, Savontaus ML", "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprot/P08034" } ], "reference": [ { "type": "PubMed", "id": "9633821", "url": "https://glygen.org/publication/PubMed/9633821" } ] }, { "title": "Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations.", "journal": "Neurology", "date": "1998", "authors": "Nicholson GA, Yeung L, Corbett A", "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprot/P08034" } ], "reference": [ { "type": "PubMed", "id": "9818870", "url": "https://glygen.org/publication/PubMed/9818870" } ] }, { "title": "Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1.", "journal": "American journal of medical genetics", "date": "1998", "authors": "Ikegami T, Lin C, Kato M, Itoh A, Nonaka I, Kurimura M, Hirayabashi H, Shinohara Y, Mochizuki A, Hayasaka K", "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprot/P08034" } ], "reference": [ { "type": "PubMed", "id": "9856562", "url": "https://glygen.org/publication/PubMed/9856562" } ] }, { "title": "Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.", "journal": "Human mutation", "date": "1999", "authors": "Nelis E, Haites N, Van Broeckhoven C", "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprot/P08034" } ], "reference": [ { "type": "PubMed", "id": "9888385", "url": "https://glygen.org/publication/PubMed/9888385" } ] } ], "pathway": [ { "id": "hsa:2705", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2705", "resource": "KEGG Pathway" }, { "id": "R-HSA-190704", "name": 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