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: 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: rs397516677
rs397516677
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: rs397516679
rs397516679
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: rs727504649
rs727504649
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: rs879255551
rs879255551
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C1970757
Disease:
Tooth Agenesis, Selective, X-Linked, 1 		0.800 GeneticVariation UNIPROT Functional Study of Ectodysplasin-A Mutations Causing Non-Syndromic Tooth Agenesis. 27144394 2016
dbSNP: rs879255552
rs879255552
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: rs879255611
rs879255611
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C1970757
Disease:
Tooth Agenesis, Selective, X-Linked, 1 		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 Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia. 24724966 2015
dbSNP: rs397516677
rs397516677
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: rs397516679
rs397516679
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: rs727504649
rs727504649
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: rs879255552
rs879255552
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: rs879255551
rs879255551
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C1970757
Disease:
Tooth Agenesis, Selective, X-Linked, 1 		0.800 GeneticVariation UNIPROT Oligodontia and curly hair occur with ectodysplasin-a mutations. 24487376 2014
dbSNP: rs879255611
rs879255611
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C1970757
Disease:
Tooth Agenesis, Selective, X-Linked, 1 		0.800 GeneticVariation UNIPROT Oligodontia and curly hair occur with ectodysplasin-a mutations. 24487376 2014
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: rs879255551
rs879255551
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C1970757
Disease:
Tooth Agenesis, Selective, X-Linked, 1 		0.800 GeneticVariation UNIPROT Non-syndromic tooth agenesis associated with a nonsense mutation in ectodysplasin-A (EDA). 23603338 2013
dbSNP: rs879255551
rs879255551
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C1970757
Disease:
Tooth Agenesis, Selective, X-Linked, 1 		0.800 GeneticVariation UNIPROT Novel EDA p.Ile260Ser mutation linked to non-syndromic hypodontia. 23625373 2013
dbSNP: rs879255611
rs879255611
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C1970757
Disease:
Tooth Agenesis, Selective, X-Linked, 1 		0.800 GeneticVariation UNIPROT Novel EDA p.Ile260Ser mutation linked to non-syndromic hypodontia. 23625373 2013
dbSNP: rs879255611
rs879255611
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C1970757
Disease:
Tooth Agenesis, Selective, X-Linked, 1 		0.800 GeneticVariation UNIPROT Non-syndromic tooth agenesis associated with a nonsense mutation in ectodysplasin-A (EDA). 23603338 2013
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 [Detection of ED1 gene mutations in six pedigrees with hypohidrotic ectodermal dysplasia]. 22875504 2012
dbSNP: rs397516677
rs397516677
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: rs397516679
rs397516679
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: rs727504649
rs727504649
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: rs879255552
rs879255552
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