EDA, ectodysplasin A, 1896

N. diseases: 150; N. variants: 83
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs132630317
rs132630317
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
Christ-Siemens-Touraine syndrome
0.710 GeneticVariation BEFREE Mutation in the ED1 gene, Ala349Thr, in a Korean patient with X-linked hypohidrotic ectodermal dysplasia developing de novo. 15461765 2005
dbSNP: rs132630312
rs132630312
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C3888065
Disease:
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
0.010 GeneticVariation BEFREE The second mutation, located outside the minimal furin consensus motif (c.463C>T, p.Arg155Cys, rs132630312), was identified in the patient exhibiting all typical features of HED. 27054699 2016
dbSNP: rs132630312
rs132630312
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C3887494
Disease:
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
0.010 GeneticVariation BEFREE The second mutation, located outside the minimal furin consensus motif (c.463C>T, p.Arg155Cys, rs132630312), was identified in the patient exhibiting all typical features of HED. 27054699 2016
dbSNP: rs132630312
rs132630312
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C3539920
Disease:
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
0.010 GeneticVariation BEFREE The second mutation, located outside the minimal furin consensus motif (c.463C>T, p.Arg155Cys, rs132630312), was identified in the patient exhibiting all typical features of HED. 27054699 2016
dbSNP: rs132630312
rs132630312
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C3541517
Disease:
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
0.010 GeneticVariation BEFREE The second mutation, located outside the minimal furin consensus motif (c.463C>T, p.Arg155Cys, rs132630312), was identified in the patient exhibiting all typical features of HED. 27054699 2016
dbSNP: rs132630317
rs132630317
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C3887494
Disease:
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
0.010 GeneticVariation BEFREE We report HED in a 6-year-old boy with an Ala349Thr (GCA --> ACA) missense mutation developed de novo. 15461765 2005
dbSNP: rs132630317
rs132630317
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C3888065
Disease:
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
0.010 GeneticVariation BEFREE We report HED in a 6-year-old boy with an Ala349Thr (GCA --> ACA) missense mutation developed de novo. 15461765 2005
dbSNP: rs132630317
rs132630317
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C3539920
Disease:
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
0.010 GeneticVariation BEFREE We report HED in a 6-year-old boy with an Ala349Thr (GCA --> ACA) missense mutation developed de novo. 15461765 2005
dbSNP: rs132630317
rs132630317
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C3541517
Disease:
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
0.010 GeneticVariation BEFREE We report HED in a 6-year-old boy with an Ala349Thr (GCA --> ACA) missense mutation developed de novo. 15461765 2005
dbSNP: rs132630321
rs132630321
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0013575
Disease:
Ectodermal Dysplasia
0.010 GeneticVariation BEFREE One novel mutation (c.441_442insACTCT) and three reported mutations (c.252delT, c.463C>T, and c.1013C>T) in EDA were identified in families with ectodermal dysplasia. 30417976 2019
dbSNP: rs132630321
rs132630321
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0020608
Disease:
Hypodontia
0.010 GeneticVariation BEFREE In this study, a novel EDA mutation (Thr338Met) that results in X-linked non-syndromic hypodontia in a Chinese family was identified. 18657636 2009
dbSNP: rs483352804
rs483352804
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0000846
Disease:
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
dbSNP: rs132630319
rs132630319
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C1970757
Disease:
Tooth Agenesis, Selective, X-Linked, 1
G 0.800 CausalMutation CLINVAR
dbSNP: rs132630321
rs132630321
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C1970757
Disease:
Tooth Agenesis, Selective, X-Linked, 1
T 0.800 CausalMutation CLINVAR
dbSNP: rs397516662
rs397516662
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
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
dbSNP: rs397516662
rs397516662
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
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
dbSNP: rs397516662
rs397516662
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
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
dbSNP: rs397516662
rs397516662
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
Christ-Siemens-Touraine syndrome
T 0.800 CausalMutation CLINVAR Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia. 21357618 2011
dbSNP: rs397516662
rs397516662
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
Christ-Siemens-Touraine syndrome
T 0.800 CausalMutation CLINVAR [Detection of ED1 gene mutations in six pedigrees with hypohidrotic ectodermal dysplasia]. 22875504 2012
dbSNP: rs397516662
rs397516662
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
Christ-Siemens-Touraine syndrome
T 0.800 CausalMutation CLINVAR X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings. 20236127 2010
dbSNP: rs397516662
rs397516662
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
Christ-Siemens-Touraine syndrome
T 0.800 CausalMutation CLINVAR Correlation between the phenotypes and genotypes of X-linked hypohidrotic ectodermal dysplasia and non-syndromic hypodontia caused by ectodysplasin-A mutations. 21457804 2011
dbSNP: rs397516677
rs397516677
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
Christ-Siemens-Touraine syndrome
A 0.800 CausalMutation CLINVAR Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. 20979233 2011
dbSNP: rs397516677
rs397516677
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
Christ-Siemens-Touraine syndrome
A 0.800 CausalMutation CLINVAR A point mutation of the ED1 gene in a Japanese family with X-linked hypohidrotic ectodermal dysplasia. 15663448 2005
dbSNP: rs397516677
rs397516677
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
Christ-Siemens-Touraine syndrome
A 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
dbSNP: rs397516677
rs397516677
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
Christ-Siemens-Touraine syndrome
A 0.800 CausalMutation CLINVAR The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats. 9736768 1998