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: rs132630319
rs132630319
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C1970757
Disease:
Tooth Agenesis, Selective, X-Linked, 1 		0.800 GeneticVariation UNIPROT
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 		0.800 GeneticVariation UNIPROT
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 		0.800 GeneticVariation UNIPROT A new mutation in EDA gene in X-linked hypohidrotic ectodermal dysplasia associated with keratoconus. 22350046 2012
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 		0.800 GeneticVariation UNIPROT Functional Study of Ectodysplasin-A Mutations Causing Non-Syndromic Tooth Agenesis. 27144394 2016
dbSNP: rs397516662
rs397516662
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
Christ-Siemens-Touraine syndrome 		0.800 GeneticVariation UNIPROT 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 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 		0.800 GeneticVariation UNIPROT Pitfalls in clinical diagnosis of female carriers of X-linked hypohidrotic ectodermal dysplasia. 12225002 2002
dbSNP: rs397516662
rs397516662
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
Christ-Siemens-Touraine syndrome 		0.800 GeneticVariation UNIPROT The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats. 9736768 1998
dbSNP: rs397516662
rs397516662
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
Christ-Siemens-Touraine syndrome 		0.800 GeneticVariation UNIPROT Mutations in the EDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X-linked anhidrotic ectodermal dysplasia. 11343303 2001
dbSNP: rs397516662
rs397516662
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
Christ-Siemens-Touraine syndrome 		0.800 GeneticVariation UNIPROT The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia. 11295832 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 		0.800 GeneticVariation UNIPROT X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. 8696334 1996
dbSNP: rs397516662
rs397516662
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
Christ-Siemens-Touraine syndrome 		0.800 GeneticVariation UNIPROT Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. 18231121 2008
dbSNP: rs397516662
rs397516662
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
Christ-Siemens-Touraine syndrome 		0.800 GeneticVariation UNIPROT Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications. 9507389 1998
dbSNP: rs397516662
rs397516662
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
Christ-Siemens-Touraine syndrome 		0.800 GeneticVariation UNIPROT Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia. 19438931 2009
dbSNP: rs397516662
rs397516662
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
Christ-Siemens-Touraine syndrome 		0.800 GeneticVariation UNIPROT A novel missense mutation (Gln306His) in exon 7 of the ED1 gene causing anhidrotic ectodermal dysplasia with prominent milia-like facial sebaceous papules. 12932274 2003
dbSNP: rs397516662
rs397516662
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
Christ-Siemens-Touraine syndrome 		0.800 GeneticVariation UNIPROT Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia. 24724966 2015
dbSNP: rs397516662
rs397516662
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
Christ-Siemens-Touraine syndrome 		0.800 GeneticVariation UNIPROT Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations. 9683615 1998
dbSNP: rs397516662
rs397516662
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
Christ-Siemens-Touraine syndrome 		0.800 GeneticVariation UNIPROT A novel arginine-->Serine mutation in EDA1 in a Japanese family with X-linked anhidrotic ectodermal dysplasia. 10951256 2000
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