EDA, ectodysplasin A, 1896

N. diseases: 150; N. variants: 83
Disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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