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: rs879255551
rs879255551
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C1970757
Disease:
Tooth Agenesis, Selective, X-Linked, 1 		0.800 GeneticVariation UNIPROT Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis. 18657636 2009
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: 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 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 A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia. 16583127 2006
dbSNP: rs879255551
rs879255551
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C1970757
Disease:
Tooth Agenesis, Selective, X-Linked, 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs879255551
rs879255551
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C1970757
Disease:
Tooth Agenesis, Selective, X-Linked, 1 		0.800 GeneticVariation UNIPROT EDA gene mutations underlie non-syndromic oligodontia. 19278982 2009
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 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 		A 0.800 CausalMutation CLINVAR
dbSNP: rs879255611
rs879255611
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C1970757
Disease:
Tooth Agenesis, Selective, X-Linked, 1 		0.800 GeneticVariation UNIPROT EDA gene mutations underlie non-syndromic oligodontia. 19278982 2009
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: rs879255611
rs879255611
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C1970757
Disease:
Tooth Agenesis, Selective, X-Linked, 1 		0.800 GeneticVariation UNIPROT Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis. 18657636 2009
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 A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia. 16583127 2006
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: rs132630308
rs132630308
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C1970757
Disease:
Tooth Agenesis, Selective, X-Linked, 1 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs132630312
rs132630312
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C1970757
Disease:
Tooth Agenesis, Selective, X-Linked, 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs132630320
rs132630320
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C1970757
Disease:
Tooth Agenesis, Selective, X-Linked, 1 		G 0.700 CausalMutation CLINVAR
dbSNP: rs142948132
rs142948132
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C1970757
Disease:
Tooth Agenesis, Selective, X-Linked, 1 		0.700 GeneticVariation UNIPROT Non-syndromic tooth agenesis associated with a nonsense mutation in ectodysplasin-A (EDA). 23603338 2013
dbSNP: rs142948132
rs142948132
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C1970757
Disease:
Tooth Agenesis, Selective, X-Linked, 1 		0.700 GeneticVariation UNIPROT A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia. 16583127 2006