rs74315315
|
GJB3;SMIM12;LOC105378642
|
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3.
|
10798362 |
2000 |
rs74315316
|
GJB3;SMIM12;LOC105378642
|
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3.
|
10798362 |
2000 |
rs74315317
|
GJB3;SMIM12;LOC105378642
|
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3.
|
10798362 |
2000 |
rs74315321
|
GJB3;SMIM12;LOC105378642
|
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3.
|
10798362 |
2000 |
rs74315315
|
GJB3;SMIM12;LOC105378642
|
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis.
|
10594760 |
1999 |
rs74315316
|
GJB3;SMIM12;LOC105378642
|
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis.
|
10594760 |
1999 |
rs74315317
|
GJB3;SMIM12;LOC105378642
|
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis.
|
10594760 |
1999 |
rs74315321
|
GJB3;SMIM12;LOC105378642
|
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis.
|
10594760 |
1999 |
rs74315315
|
GJB3;SMIM12;LOC105378642
|
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.
|
9843209 |
1998 |
rs74315316
|
GJB3;SMIM12;LOC105378642
|
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.
|
9843209 |
1998 |
rs74315317
|
GJB3;SMIM12;LOC105378642
|
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.
|
9843209 |
1998 |
rs74315318
|
GJB3;SMIM12;LOC105378642
|
Deafness, Autosomal Dominant 2B
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment.
|
9843210 |
1998 |
rs74315321
|
GJB3;SMIM12;LOC105378642
|
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.
|
9843209 |
1998 |
rs74315315
|
GJB3;SMIM12;LOC105378642
|
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs74315316
|
GJB3;SMIM12;LOC105378642
|
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs74315317
|
GJB3;SMIM12;LOC105378642
|
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs74315318
|
GJB3;SMIM12;LOC105378642
|
Deafness, Autosomal Dominant 2B
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs74315321
|
GJB3;SMIM12;LOC105378642
|
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs2359644
|
GJB3;SMIM12;LOC105378642
|
Tonometry
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide analysis identified 17 new loci influencing intraocular pressure in Chinese population.
|
30591961 |
2019 |
rs74315320
|
GJB3;SMIM12;LOC105378642
|
Deafness, Autosomal Dominant 2B
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment.
|
9843210 |
1998 |
rs121908851
|
GJB3;SMIM12;LOC105378642
|
DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs144964568
|
GJB3;SMIM12;LOC105378642
|
Nonsyndromic Deafness
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1557659237
|
GJB3;SMIM12;LOC105378642
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1557659237
|
GJB3;SMIM12;LOC105378642
|
hearing impairment
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs28937583
|
GJB3;SMIM12;LOC105378642
|
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|