EDAR, ectodysplasin A receptor, 10913

N. diseases: 69; N. variants: 36
Disease: ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1558793621
rs1558793621
Entrez Id: 5903;10913
Gene Symbol: RANBP2;EDAR
RANBP2;EDAR
CUI: C3541517
Disease:
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT 		GC 0.700 CausalMutation CLINVAR Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia. 24641098 2015
dbSNP: rs1558793736
rs1558793736
Entrez Id: 5903;10913
Gene Symbol: RANBP2;EDAR
RANBP2;EDAR
CUI: C3541517
Disease:
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT 		A 0.700 CausalMutation CLINVAR Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia. 24641098 2015
dbSNP: rs1558793621
rs1558793621
Entrez Id: 5903;10913
Gene Symbol: RANBP2;EDAR
RANBP2;EDAR
CUI: C3541517
Disease:
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT 		GC 0.700 CausalMutation CLINVAR Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia. 23401279 2013
dbSNP: rs1558793736
rs1558793736
Entrez Id: 5903;10913
Gene Symbol: RANBP2;EDAR
RANBP2;EDAR
CUI: C3541517
Disease:
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT 		A 0.700 CausalMutation CLINVAR Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia. 23401279 2013
dbSNP: rs757233170
rs757233170
Entrez Id: 5903;10913
Gene Symbol: RANBP2;EDAR
RANBP2;EDAR
CUI: C3541517
Disease:
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT 		C 0.700 GeneticVariation CLINVAR Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. 20979233 2011
dbSNP: rs757233170
rs757233170
Entrez Id: 5903;10913
Gene Symbol: RANBP2;EDAR
RANBP2;EDAR
CUI: C3541517
Disease:
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT 		C 0.700 GeneticVariation CLINVAR Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. 10431241 1999
dbSNP: rs1432041144
rs1432041144
Entrez Id: 5903;10913
Gene Symbol: RANBP2;EDAR
RANBP2;EDAR
CUI: C3541517
Disease:
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT 		A 0.700 CausalMutation CLINVAR
dbSNP: rs3827760
rs3827760
Entrez Id: 5903;10913
Gene Symbol: RANBP2;EDAR
RANBP2;EDAR
CUI: C3541517
Disease:
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT 		0.010 GeneticVariation BEFREE The EDA1R variant rs3827760 (p.Val370Ala), known to lessen HED-related symptoms, was found only in a single individual of Asian origin, but in none of the 123 European patients. 27305980 2016