|
| Entrez Id: |
2697 |
| Gene Symbol: |
GJA1 |
GJA1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.
|
28106320 |
2017 |
|
| Entrez Id: |
2697 |
| Gene Symbol: |
GJA1 |
GJA1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
A novel GJA1 mutation identified by whole exome sequencing in a Chinese family with autosomal dominant syndactyly.
|
27241686 |
2016 |
|
| Entrez Id: |
2697 |
| Gene Symbol: |
GJA1 |
GJA1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia.
|
27226478 |
2016 |
|
| Entrez Id: |
2697 |
| Gene Symbol: |
GJA1 |
GJA1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
A novel truncation mutation in GJA1 associated with open angle glaucoma and microcornea in a large Chinese family.
|
25976645 |
2015 |
|
| Entrez Id: |
2697 |
| Gene Symbol: |
GJA1 |
GJA1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Overview of skin diseases linked to connexin gene mutations.
|
23675785 |
2014 |
|
| Entrez Id: |
2697 |
| Gene Symbol: |
GJA1 |
GJA1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?
|
24133447 |
2013 |
|
| Entrez Id: |
2697 |
| Gene Symbol: |
GJA1 |
GJA1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Mutation analysis of Connexon43 gene in Chinese patients with congenital heart defects.
|
19615768 |
2010 |
|
| Entrez Id: |
2697 |
| Gene Symbol: |
GJA1 |
GJA1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.
|
19338053 |
2009 |
|
| Entrez Id: |
2697 |
| Gene Symbol: |
GJA1 |
GJA1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Functional characterization of oculodentodigital dysplasia-associated Cx43 mutants.
|
16531323 |
2007 |
|
| Entrez Id: |
2697 |
| Gene Symbol: |
GJA1 |
GJA1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome.
|
16816024 |
2006 |
|
| Entrez Id: |
2697 |
| Gene Symbol: |
GJA1 |
GJA1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype.
|
14974090 |
2004 |
|
| Entrez Id: |
2697 |
| Gene Symbol: |
GJA1 |
GJA1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.
|
12457340 |
2003 |