GJB1, gap junction protein beta 1, 2705

N. diseases: 28; N. variants: 85
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001430
Disease: Adenoma
Adenoma 		0.300 Biomarker group CTD_human Surprisingly, in lung adenomas Cx32 and Cx43 expressions were not detected, although the expression of connexins 26 and 46 was present. 16926031 2006
CUI: C0205646
Disease: Adenoma, Basal Cell
Adenoma, Basal Cell 		0.300 Biomarker disease CTD_human Altered expression of connexins in urethane-induced mouse lung adenomas. 16926031 2006
CUI: C0205648
Disease: Adenoma, Microcystic
Adenoma, Microcystic 		0.300 Biomarker disease CTD_human Altered expression of connexins in urethane-induced mouse lung adenomas. 16926031 2006
CUI: C0205649
Disease: Adenoma, Monomorphic
Adenoma, Monomorphic 		0.300 Biomarker disease CTD_human Altered expression of connexins in urethane-induced mouse lung adenomas. 16926031 2006
CUI: C0205651
Disease: Adenoma, Trabecular
Adenoma, Trabecular 		0.300 Biomarker disease CTD_human Altered expression of connexins in urethane-induced mouse lung adenomas. 16926031 2006
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation disease UNIPROT 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. 10220155 1999
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation disease UNIPROT Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1). 9452099 1998
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation disease UNIPROT Cx32 is widely expressed in brain and peripheral nerve, yet clinical manifestations of CMTX mainly arise from peripheral neuropathy. 12325071 2002
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation disease UNIPROT Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations. 12402337 2002
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation disease UNIPROT Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease. 10923043 2000
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation disease UNIPROT Two point mutations affecting different domains of Cx32 were identified in two CMTX patients. 11140841 2000
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation disease UNIPROT Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32. 14627639 2003
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation disease UNIPROT A new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease. 10938190 2000
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation disease UNIPROT Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. 11835375 2002
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation disease UNIPROT Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families. 11438991 2001
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation disease UNIPROT Ten families with X-linked dominant CMT neuropathy (CMTX1) were screened for point mutations of the connexin32 (Cx32, GJB1) gene. 8004109 1994
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation disease UNIPROT New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease. 7477983 1995
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation disease UNIPROT The identification of new CMTX-causing mutations is a critical step for carrier detection and presymptomatic diagnosis, and should provide essential information on the structure-function relationship of Cx32 in vitro as well as in vivo. 8698335 1996
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation disease UNIPROT Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. 15241803 2004
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation disease UNIPROT Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation. 12707076 2003
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation disease UNIPROT HMSN and HNPP. Laboratory service provision in the south west of England--two years' experience. 10586284 1999
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation disease UNIPROT Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity. 11437164 2001
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation disease UNIPROT Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients. 12477701 2003
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation disease UNIPROT Five CMTX1 families with mild clinical phenotype showed no point mutations of the cx32 gene coding region. 8737658 1996