rs483352804
×
Entrez Id:
1896
Gene Symbol:
EDA
EDA
Agenesis
0.010
GeneticVariation
BEFREE
Taken together these results suggest that c.956G>T (p.Ser319Ile ) mutation plausibly reduces the receptor binding activity of EDA leading to distinct tooth agenesis in this family.
25203534
2014
rs1131692034
×
Entrez Id:
1896
Gene Symbol:
EDA
EDA
Anhydrotic Ectodermal Dysplasias
A
0.700
CausalMutation
CLINVAR
rs1131692034
×
Entrez Id:
1896
Gene Symbol:
EDA
EDA
Brittle hair
A
0.700
CausalMutation
CLINVAR
rs397516662
×
Entrez Id:
1896
Gene Symbol:
EDA
EDA
Christ-Siemens-Touraine syndrome
0.800
GeneticVariation
UNIPROT
A new mutation in EDA gene in X-linked hypohidrotic ectodermal dysplasia associated with keratoconus.
22350046
2012
rs397516662
×
Entrez Id:
1896
Gene Symbol:
EDA
EDA
Christ-Siemens-Touraine syndrome
T
0.800
CausalMutation
CLINVAR
Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A.
11279189
2001
rs397516662
×
Entrez Id:
1896
Gene Symbol:
EDA
EDA
Christ-Siemens-Touraine syndrome
0.800
GeneticVariation
UNIPROT
Functional Study of Ectodysplasin-A Mutations Causing Non-Syndromic Tooth Agenesis.
27144394
2016
rs397516662
×
Entrez Id:
1896
Gene Symbol:
EDA
EDA
Christ-Siemens-Touraine syndrome
0.800
GeneticVariation
UNIPROT
Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia.
11416205
2001
rs397516662
×
Entrez Id:
1896
Gene Symbol:
EDA
EDA
Christ-Siemens-Touraine syndrome
T
0.800
CausalMutation
CLINVAR
Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia.
11416205
2001
rs397516662
×
Entrez Id:
1896
Gene Symbol:
EDA
EDA
Christ-Siemens-Touraine syndrome
0.800
GeneticVariation
UNIPROT
Pitfalls in clinical diagnosis of female carriers of X-linked hypohidrotic ectodermal dysplasia.
12225002
2002
rs397516662
×
Entrez Id:
1896
Gene Symbol:
EDA
EDA
Christ-Siemens-Touraine syndrome
0.800
GeneticVariation
UNIPROT
The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats.
9736768
1998
rs397516662
×
Entrez Id:
1896
Gene Symbol:
EDA
EDA
Christ-Siemens-Touraine syndrome
0.800
GeneticVariation
UNIPROT
Mutations in the EDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X-linked anhidrotic ectodermal dysplasia.
11343303
2001
rs397516662
×
Entrez Id:
1896
Gene Symbol:
EDA
EDA
Christ-Siemens-Touraine syndrome
0.800
GeneticVariation
UNIPROT
The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia.
11295832
2001
rs397516662
×
Entrez Id:
1896
Gene Symbol:
EDA
EDA
Christ-Siemens-Touraine syndrome
T
0.800
CausalMutation
CLINVAR
Involvement of and interaction between WNT10A and EDA mutations in tooth agenesis cases in the Chinese population.
24312213
2013
rs397516662
×
Entrez Id:
1896
Gene Symbol:
EDA
EDA
Christ-Siemens-Touraine syndrome
0.800
GeneticVariation
UNIPROT
X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein.
8696334
1996
rs397516662
×
Entrez Id:
1896
Gene Symbol:
EDA
EDA
Christ-Siemens-Touraine syndrome
0.800
GeneticVariation
UNIPROT
Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.
18231121
2008
rs397516662
×
Entrez Id:
1896
Gene Symbol:
EDA
EDA
Christ-Siemens-Touraine syndrome
0.800
GeneticVariation
UNIPROT
Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications.
9507389
1998
rs397516662
×
Entrez Id:
1896
Gene Symbol:
EDA
EDA
Christ-Siemens-Touraine syndrome
0.800
GeneticVariation
UNIPROT
Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia.
19438931
2009
rs397516662
×
Entrez Id:
1896
Gene Symbol:
EDA
EDA
Christ-Siemens-Touraine syndrome
0.800
GeneticVariation
UNIPROT
A novel missense mutation (Gln306His) in exon 7 of the ED1 gene causing anhidrotic ectodermal dysplasia with prominent milia-like facial sebaceous papules.
12932274
2003
rs397516662
×
Entrez Id:
1896
Gene Symbol:
EDA
EDA
Christ-Siemens-Touraine syndrome
0.800
GeneticVariation
UNIPROT
Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia.
24724966
2015
rs397516662
×
Entrez Id:
1896
Gene Symbol:
EDA
EDA
Christ-Siemens-Touraine syndrome
0.800
GeneticVariation
UNIPROT
Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations.
9683615
1998
rs397516662
×
Entrez Id:
1896
Gene Symbol:
EDA
EDA
Christ-Siemens-Touraine syndrome
0.800
GeneticVariation
UNIPROT
A novel arginine-->Serine mutation in EDA1 in a Japanese family with X-linked anhidrotic ectodermal dysplasia.
10951256
2000
rs397516662
×
Entrez Id:
1896
Gene Symbol:
EDA
EDA
Christ-Siemens-Touraine syndrome
T
0.800
CausalMutation
CLINVAR
Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia.
21357618
2011
rs397516662
×
Entrez Id:
1896
Gene Symbol:
EDA
EDA
Christ-Siemens-Touraine syndrome
T
0.800
CausalMutation
CLINVAR
[Detection of ED1 gene mutations in six pedigrees with hypohidrotic ectodermal dysplasia].
22875504
2012
rs397516662
×
Entrez Id:
1896
Gene Symbol:
EDA
EDA
Christ-Siemens-Touraine syndrome
T
0.800
CausalMutation
CLINVAR
X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings.
20236127
2010
rs397516662
×
Entrez Id:
1896
Gene Symbol:
EDA
EDA
Christ-Siemens-Touraine syndrome
0.800
GeneticVariation
UNIPROT
X-linked anhidrotic (hypohidrotic) ectodermal dysplasia caused by a novel mutation in EDA1 gene: 406T > G (Leu55Arg)
10469321
1999