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: rs886039344
rs886039344
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
Christ-Siemens-Touraine syndrome 		A 0.700 CausalMutation CLINVAR Mutations in the EDA gene are responsible for X-linked hypohidrotic ectodermal dysplasia and hypodontia in Chinese kindreds. 18821982 2008
dbSNP: rs886039344
rs886039344
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
Christ-Siemens-Touraine syndrome 		A 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