EDA, ectodysplasin A, 1896

N. diseases: 150; N. variants: 83
Disease: Christ-Siemens-Touraine syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs132630313
rs132630313
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
Christ-Siemens-Touraine syndrome 		T 0.700 CausalMutation CLINVAR Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. 20979233 2011
dbSNP: rs132630313
rs132630313
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
Christ-Siemens-Touraine syndrome 		T 0.700 CausalMutation CLINVAR Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. 18231121 2008
dbSNP: rs132630313
rs132630313
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
Christ-Siemens-Touraine syndrome 		T 0.700 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: rs132630313
rs132630313
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
Christ-Siemens-Touraine syndrome 		T 0.700 CausalMutation CLINVAR Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia. 11378824 2001
dbSNP: rs132630313
rs132630313
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
Christ-Siemens-Touraine syndrome 		T 0.700 CausalMutation CLINVAR Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia. 11416205 2001
dbSNP: rs132630313
rs132630313
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
Christ-Siemens-Touraine syndrome 		T 0.700 CausalMutation CLINVAR Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations. 9683615 1998
dbSNP: rs132630313
rs132630313
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
Christ-Siemens-Touraine syndrome 		T 0.700 CausalMutation CLINVAR The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats. 9736768 1998