rs1060501002, GJB1

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Charcot-Marie-Tooth disease, X-linked, 1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
0.810 GeneticVariation BEFREE Wild-type Cx32 and three Cx32 mutants (Va163Ile and Glu186Lys, obtained from CMTX patients with hearing impairment; and Arg22Gln, obtained from a CMTX patient with a fair number of onion-bulb formations) were transfected to rat pheochromocytoma cells (PC12). 11393532 2001
Charcot-Marie-Tooth disease, X-linked, 1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
0.810 GeneticVariation UNIPROT
Charcot-Marie-Tooth disease, X-linked, 1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
0.810 GeneticVariation CLINVAR
hearing impairment
CUI: C1384666
Disease: hearing impairment
0.010 GeneticVariation BEFREE Wild-type Cx32 and three Cx32 mutants (Va163Ile and Glu186Lys, obtained from CMTX patients with hearing impairment; and Arg22Gln, obtained from a CMTX patient with a fair number of onion-bulb formations) were transfected to rat pheochromocytoma cells (PC12). 11393532 2001