|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Correlation analysis of phenotype and genotype of GJB2 in patients with non-syndromic hearing loss in China.
|
26095810 |
2015 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Vestibular dysfunction in DFNB1 deafness.
|
21465647 |
2011 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss.
|
19384972 |
2009 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment.
|
19366456 |
2009 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment.
|
16300957 |
2006 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutation analysis of the GJB2 (connexin 26) gene in Egypt.
|
15954104 |
2005 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
A genotype-phenotype correlation for GJB2 (connexin 26) deafness.
|
14985372 |
2004 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss.
|
15241677 |
2004 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss.
|
12786758 |
2003 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Functional analysis of connexin-26 mutants associated with hereditary recessive deafness.
|
12562518 |
2003 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30.
|
12668604 |
2003 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.
|
12560944 |
2003 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.
|
12172392 |
2002 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
|
11313763 |
2001 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana.
|
11439000 |
2001 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana.
|
11439000 |
2001 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.
|
10982180 |
2000 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Prevalent connexin 26 gene (GJB2) mutations in Japanese.
|
10633133 |
2000 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss.
|
10807696 |
2000 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa.
|
9471561 |
1998 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Connexin 26 gene linked to a dominant deafness.
|
9620796 |
1998 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
|
hearing impairment
|
|
0.720 |
GeneticVariation
|
BEFREE |
<i>GJB2</i>-R143W mutation accounted for over a quarter of familial non-syndromic HI in Ghana and should be investigated in clinical practice.
|
31620164 |
2019 |
|
hearing impairment
|
|
0.720 |
GeneticVariation
|
BEFREE |
Two genotypes--35delG/R143W (median 105 dB) and 35delG/dela(GJB6-D13S1830) (median 108 dB)--had significantly more-severe HI than that of 35delG homozygotes.
|
16380907 |
2005 |
|
hearing impairment
|
|
0.720 |
CausalMutation
|
CLINVAR |
|
|
|