Dry Skin, CTCAE
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Abnormal blistering of the skin
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Short Stature, CTCAE
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Intellectual Disability
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
Patchy palmoplantar keratoderma
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Abnormality of cardiovascular system morphology
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis.
|
11017804 |
2000 |
Erythrokeratodermia variabilis
|
0.670 |
GeneticVariation
|
disease |
BEFREE |
The human GJB4 gene has been deduced in silico and a mutation in a family with erythrokeratodermia variabilis has been reported.
|
11933201 |
2002 |
hearing impairment
|
0.110 |
GeneticVariation
|
phenotype |
BEFREE |
These GJB4 variants should help to define the putative role of connexin 30.3 in both skin disorders and hearing impairment.
|
11933201 |
2002 |
Dermatologic disorders
|
0.020 |
GeneticVariation
|
group |
BEFREE |
These GJB4 variants should help to define the putative role of connexin 30.3 in both skin disorders and hearing impairment.
|
11933201 |
2002 |
Erythrokeratodermia variabilis
|
0.670 |
GeneticVariation
|
disease |
BEFREE |
In this study, we sequenced the coding region of GJB4 in 13 unrelated erythrokeratodermia variabilis families without detectable mutations in GJB3.
|
12648223 |
2003 |
Erythrokeratodermia variabilis
|
0.670 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
In this study, we sequenced the coding region of GJB4 in 13 unrelated erythrokeratodermia variabilis families without detectable mutations in GJB3.
|
12648223 |
2003 |
Erythrokeratodermia variabilis
|
0.670 |
GeneticVariation
|
disease |
BEFREE |
We recently identified mutations in either GJB3 or GJB4 genes, encoding respectively connexin 31 (Cx31) or 30.3 (Cx30.3), as causally involved in erythrokeratodermia variabilis (EKV), a mostly autosomal dominant disorder of keratinization.
|
14583444 |
2003 |
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.
|
12648223 |
2003 |
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.
|
12648223 |
2003 |
Hyperkeratosis, Epidermolytic
|
0.300 |
Biomarker
|
disease |
CTD_human |
Clinical and genetic heterogeneity of erythrokeratoderma variabilis.
|
16297190 |
2005 |
Keratoderma, Palmoplantar
|
0.110 |
Biomarker
|
disease |
BEFREE |
Mutations in connexin 31 (GJB3) and connexin 30.3 (GJB4), implicated in previous reports of EKV, and connexin 26 (GJB2), implicated in palmoplantar keratoderma, were unlikely given the lack of shared homozygous haplotypes in the regions surrounding these genes.
|
15668823 |
2005 |
Dermatologic disorders
|
0.020 |
GeneticVariation
|
group |
BEFREE |
The skin disease erythrokeratoderma variabilis (EKV) has been shown to be associated with mutations in GJB3 and GJB4 encoding connexin (Cx)31 and Cx30.3, respectively.
|
16297190 |
2005 |
Erythrokeratoderma
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
The skin disease erythrokeratoderma variabilis (EKV) has been shown to be associated with mutations in GJB3 and GJB4 encoding connexin (Cx)31 and Cx30.3, respectively.
|
16297190 |
2005 |
Inherited hearing loss
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Mutations in five gap junction genes, including GJB2 (Cx26), GJB3 (Cx31), GJB4 (Cx30.3), GJB6 (Cx30) and GJA1 (Cx43) are known to cause inherited hearing loss and/or disorders of the skin and its appendages, often giving rise to overlapping phenotypes.
|
15757815 |
2005 |
Skin lesion
|
0.010 |
Biomarker
|
group |
BEFREE |
It has similar skin lesions as observed for EKV, including congenital hyperkeratosis and red patches of variable sizes, shapes, and duration.
|
15668823 |
2005 |
Erythrokeratodermia variabilis
|
0.670 |
GeneticVariation
|
disease |
BEFREE |
Apparently, the same GJB4 mutation may cause either an EKV or a PSEK phenotype.
|
19291775 |
2009 |
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron.
|
19291775 |
2009 |
Inherited hearing loss
|
0.020 |
Biomarker
|
disease |
BEFREE |
Mutations in connexin genes including GJB2 (Cx26), GJB3 (Cx31), GJB4 (Cx30.3), GJB6 (Cx30) and GJA1 (Cx43) are responsible for various dermatological syndromes and/or inherited hearing loss, frequently showing overlapping phenotypes.
|
19416251 |
2009 |
Nonsyndromic Deafness
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Our results suggest the variants of GJC3, GJB4, and GJB3 may be the common genetic risk factor, after variants of GJB2, for the development of nonsyndromic HL in Taiwan.
|
20593197 |
2010 |