Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894814
rs104894814
0.810 GeneticVariation UNIPROT Severe neuropathy with leaky connexin32 hemichannels. 15852376

2005

dbSNP: rs104894814
rs104894814
0.810 GeneticVariation UNIPROT Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease. 12325071

2002

dbSNP: rs104894814
rs104894814
0.810 GeneticVariation UNIPROT Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations. 12402337

2002

dbSNP: rs104894814
rs104894814
0.810 GeneticVariation UNIPROT Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease. 11891346

2002

dbSNP: rs104894814
rs104894814
0.810 GeneticVariation UNIPROT Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. 11835375

2002

dbSNP: rs104894814
rs104894814
0.810 GeneticVariation UNIPROT Episodes of generalized weakness in two sibs with the C164T mutation of the connexin 32 gene. 11723288

2001

dbSNP: rs104894814
rs104894814
0.810 GeneticVariation UNIPROT Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families. 11438991

2001

dbSNP: rs104894814
rs104894814
0.810 GeneticVariation UNIPROT A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease. 11180613

2001

dbSNP: rs104894814
rs104894814
0.810 GeneticVariation UNIPROT Severe X-linked Charcot-Marie-Tooth neuropathy due to new mutations [G59R(G-->C), W44X(G-->A)] in the connexin 32 gene. 10894999

2000

dbSNP: rs104894814
rs104894814
0.810 GeneticVariation UNIPROT Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations. 10234007

1999

dbSNP: rs104894814
rs104894814
0.810 GeneticVariation UNIPROT Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1. 9856562

1998

dbSNP: rs104894814
rs104894814
0.810 GeneticVariation UNIPROT Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies. 9633821

1998

dbSNP: rs104894814
rs104894814
0.810 GeneticVariation UNIPROT A novel mutation (C201R) in the transmembrane domain of connexin 32 in severe X-linked Charcot-Marie-Tooth disease. 9452025

1998

dbSNP: rs104894814
rs104894814
0.810 GeneticVariation UNIPROT Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1). 9099841

1997

dbSNP: rs104894814
rs104894814
0.810 GeneticVariation UNIPROT 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. 9187667

1997

dbSNP: rs104894814
rs104894814
0.810 GeneticVariation UNIPROT Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy. 8807343

1996

dbSNP: rs104894814
rs104894814
0.810 GeneticVariation UNIPROT Two novel mutations (C53S, S26L) in the connexin32 of Charcot-Marie-Tooth disease type X families. 8889588

1996

dbSNP: rs104894814
rs104894814
0.810 GeneticVariation UNIPROT New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease. 7477983

1995

dbSNP: rs104894814
rs104894814
0.810 GeneticVariation UNIPROT Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1) 8162049

1994

dbSNP: rs104894814
rs104894814
0.810 GeneticVariation UNIPROT X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin32. 7833935

1994

dbSNP: rs1060501002
rs1060501002
0.810 GeneticVariation UNIPROT

dbSNP: rs104894810
rs104894810
0.800 GeneticVariation UNIPROT Severe neuropathy with leaky connexin32 hemichannels. 15852376

2005

dbSNP: rs104894811
rs104894811
0.800 GeneticVariation UNIPROT Severe neuropathy with leaky connexin32 hemichannels. 15852376

2005

dbSNP: rs104894812
rs104894812
0.800 GeneticVariation UNIPROT Severe neuropathy with leaky connexin32 hemichannels. 15852376

2005

dbSNP: rs104894813
rs104894813
0.800 GeneticVariation UNIPROT Severe neuropathy with leaky connexin32 hemichannels. 15852376

2005