EDA, ectodysplasin A, 1896

N. diseases: 150; N. variants: 83
Disease: Tooth Agenesis, Selective, X-Linked, 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1970757
Disease: Tooth Agenesis, Selective, X-Linked, 1
Tooth Agenesis, Selective, X-Linked, 1 		0.700 GeneticVariation disease UNIPROT Functional Study of Ectodysplasin-A Mutations Causing Non-Syndromic Tooth Agenesis. 27144394 2016
CUI: C1970757
Disease: Tooth Agenesis, Selective, X-Linked, 1
Tooth Agenesis, Selective, X-Linked, 1 		0.700 GeneticVariation disease UNIPROT Oligodontia and curly hair occur with ectodysplasin-a mutations. 24487376 2014
CUI: C1970757
Disease: Tooth Agenesis, Selective, X-Linked, 1
Tooth Agenesis, Selective, X-Linked, 1 		0.700 GeneticVariation disease UNIPROT Novel EDA p.Ile260Ser mutation linked to non-syndromic hypodontia. 23625373 2013
CUI: C1970757
Disease: Tooth Agenesis, Selective, X-Linked, 1
Tooth Agenesis, Selective, X-Linked, 1 		0.700 GeneticVariation disease UNIPROT Non-syndromic tooth agenesis associated with a nonsense mutation in ectodysplasin-A (EDA). 23603338 2013
CUI: C1970757
Disease: Tooth Agenesis, Selective, X-Linked, 1
Tooth Agenesis, Selective, X-Linked, 1 		0.700 GeneticVariation disease UNIPROT EDA gene mutations underlie non-syndromic oligodontia. 19278982 2009
CUI: C1970757
Disease: Tooth Agenesis, Selective, X-Linked, 1
Tooth Agenesis, Selective, X-Linked, 1 		0.700 GeneticVariation disease UNIPROT Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis. 18657636 2009
CUI: C1970757
Disease: Tooth Agenesis, Selective, X-Linked, 1
Tooth Agenesis, Selective, X-Linked, 1 		0.700 Biomarker disease GENOMICS_ENGLAND A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia. 16583127 2006
CUI: C1970757
Disease: Tooth Agenesis, Selective, X-Linked, 1
Tooth Agenesis, Selective, X-Linked, 1 		0.700 GeneticVariation disease UNIPROT A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia. 16583127 2006
CUI: C1970757
Disease: Tooth Agenesis, Selective, X-Linked, 1
Tooth Agenesis, Selective, X-Linked, 1 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1970757
Disease: Tooth Agenesis, Selective, X-Linked, 1
Tooth Agenesis, Selective, X-Linked, 1 		0.700 CausalMutation disease CLINVAR
CUI: C1970757
Disease: Tooth Agenesis, Selective, X-Linked, 1
Tooth Agenesis, Selective, X-Linked, 1 		0.700 Biomarker disease CTD_human
CUI: C1970757
Disease: Tooth Agenesis, Selective, X-Linked, 1
Tooth Agenesis, Selective, X-Linked, 1 		0.700 GeneticVariation disease CLINVAR