|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Distribution and phenotype of GJB2 mutations in 102 Sicilian patients with congenital non syndromic sensorineural hearing loss.
|
24793888 |
2014 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Multiple effects of childhood deafness on cortical activity in children receiving bilateral cochlear implants simultaneously.
|
21094084 |
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 |
DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.
|
17041943 |
2006 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.
|
15967879 |
2005 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness.
|
12505163 |
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 |
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 |
Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.
|
12189493 |
2002 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria.
|
12189487 |
2002 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling.
|
11493200 |
2001 |
|
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 |
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.
|
10982180 |
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 |
High frequency hearing loss correlated with mutations in the GJB2 gene.
|
10830906 |
2000 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Connexin 26 gene linked to a dominant deafness.
|
9620796 |
1998 |
|
hearing impairment
|
|
0.720 |
GeneticVariation
|
BEFREE |
Subsequent analyses showed that the patients with M34T/35delG and V37I/35delG had significantly later onset of HI than patients with other genotypes (P < 10(-6)) including the L90P/35delG (P = 0.006).
|
17935238 |
2007 |
|
hearing impairment
|
|
0.720 |
GeneticVariation
|
BEFREE |
Several common mutations (M34T, V37I, and L90P) were associated with mild-to-moderate HI (median 25-40 dB).
|
16380907 |
2005 |
|
hearing impairment
|
|
0.720 |
CausalMutation
|
CLINVAR |
|
|
|
|
Poor school performance
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Short distal phalanx of the 5th finger
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Thin upper lip vermilion
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Irregularly spaced teeth
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Low anterior hairline
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|