Knuckle pads, leuconychia and sensorineural deafness
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Knuckle pads, leuconychia and sensorineural deafness
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Knuckle pads, leuconychia and sensorineural deafness
|
0.720 |
Biomarker
|
disease |
CTD_human |
|
|
|
Knuckle pads, leuconychia and sensorineural deafness
|
0.720 |
GermlineCausalMutation
|
disease |
ORPHANET |
A family of Bart-Pumphrey syndrome.
|
22421650 |
2012 |
Knuckle pads, leuconychia and sensorineural deafness
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
|
17666888 |
2007 |
Knuckle pads, leuconychia and sensorineural deafness
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.
|
10376574 |
1999 |
Knuckle pads, leuconychia and sensorineural deafness
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates.
|
18294064 |
2007 |
Knuckle pads, leuconychia and sensorineural deafness
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.
|
9285800 |
1997 |
Knuckle pads, leuconychia and sensorineural deafness
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
|
31160754 |
2019 |
Knuckle pads, leuconychia and sensorineural deafness
|
0.720 |
GermlineCausalMutation
|
disease |
ORPHANET |
Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.
|
15482471 |
2004 |
Knuckle pads, leuconychia and sensorineural deafness
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.
|
15482471 |
2004 |
Knuckle pads, leuconychia and sensorineural deafness
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.
|
15482471 |
2004 |
Knuckle pads, leuconychia and sensorineural deafness
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
For example, mutations in GJB2, the gene encoding connexin-26 (Cx26), are not only a major cause of nonsyndromic deafness, but also cause syndromic deafness associated with skin disorders such as palmoplantar keratoderma, keratitis-ichthyosis deafness syndrome, Vohwinkel syndrome, hystrix-ichthyosis deafness syndrome and Bart-Pumphrey syndrome.
|
19939300 |
2009 |
Knuckle pads, leuconychia and sensorineural deafness
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome.
|
15952212 |
2005 |
Knuckle pads, leuconychia and sensorineural deafness
|
0.720 |
GermlineCausalMutation
|
disease |
ORPHANET |
G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome.
|
15952212 |
2005 |
Knuckle pads, leuconychia and sensorineural deafness
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.
|
12172392 |
2002 |
Knuckle pads, leuconychia and sensorineural deafness
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG.
|
10713883 |
2000 |
Knuckle pads, leuconychia and sensorineural deafness
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
Mutations in connexin 26 are linked to diseases including Vohwinkel syndrome, keratitis-ichthyosis deafness, and hystrix-like ichthyosis deafness syndromes, palmoplantar keratoderma with deafness, deafness with Clouston-like phenotype, and Bart-Pumphrey syndrome.
|
23675785 |
2014 |
Knuckle pads, leuconychia and sensorineural deafness
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.
|
9336442 |
1997 |
Knuckle pads, leuconychia and sensorineural deafness
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.
|
9328482 |
1997 |
Knuckle pads, leuconychia and sensorineural deafness
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Vohwinkel syndrome, ichthyosiform variant--by Camisa--case report.
|
24346921 |
2014 |