EDA, ectodysplasin A, 1896

N. diseases: 150; N. variants: 83
Disease: Ectodermal Dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 GeneticVariation disease BEFREE One novel mutation (c.441_442insACTCT) and three reported mutations (c.252delT, c.463C>T, and c.1013C>T) in EDA were identified in families with ectodermal dysplasia. 30417976 2019
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 GeneticVariation disease BEFREE Mutations of the EDA gene are related to ectodermal dysplasia and tooth agenesis. 30605838 2019
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 GeneticVariation disease BEFREE Mutations in the ectodysplasin A gene ( EDA) cause X-LHED (X-linked hypohidrotic ectodermal dysplasia), the most common human form of ectodermal dysplasia. 29913094 2018
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 GeneticVariation disease BEFREE The interaction of ectodysplasin-A (EDA) with its receptor, EDAR, plays a critical role in cusp formation by these enamel knots, and mutations of these genes is a cause of ectodermal dysplasia. 30089653 2018
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 GeneticVariation disease BEFREE As the most common form of ectodermal dysplasia (ED), X-linked hypohidrotic ED (XLHED) is characterized by the triad of hypohidrosis, hypotrichosis, and anodontia in male patients.The gene responsible for XLHED is EDA. 30117778 2018
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 GeneticVariation disease BEFREE An EDA mutation underlies the most common of ectodermal dysplasias, that is X-linked hypohidrotic ectodermal dysplasia (XLHED) in humans. 28782908 2018
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 Biomarker disease BEFREE Ectodysplasin A in Biological Fluids and Diagnosis of Ectodermal Dysplasia. 28106506 2017
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 Biomarker disease BEFREE The antibodies block EDA1 and EDA2 of both mammalian and avian origin and, in vivo, suppress the ability of recombinant Fc-EDA1 to rescue ectodermal dysplasia in Eda-deficient Tabby mice. 24391090 2014
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 GeneticVariation disease BEFREE We have screened for mutations in EDAR (commonly involved in the hypohidrotic form) and WNT10A (involved in a wide spectrum of ED and in isolated hypodontia) in a cohort of 36 patients referred for EDA molecular screening, which failed to identify any mutation. 23401279 2013
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 GeneticVariation disease BEFREE Mutations in the EDA gene are responsible for X-linked hypohidrotic ectodermal dysplasia, the most common form of ectodermal dysplasia. 20486090 2010
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 GeneticVariation disease BEFREE We also present a new mutation in the EDA gene which causes selective tooth agenesis and demonstrates the phenotype variation that can be encountered in the ectodermal dysplasia syndrome (HED) with the highest prevalence worldwide. 19504606 2009
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 GeneticVariation disease LHGDN Screening of EDA1 gene in X-linked anhidrotic ectodermal dysplasia using DHPLC: identification of 14 novel mutations in Italian patients. 18666859 2008
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 GeneticVariation disease LHGDN Mutations in the EDA gene are responsible for X-linked hypohidrotic ectodermal dysplasia and hypodontia in Chinese kindreds. 18821982 2008
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 GeneticVariation disease LHGDN Molecular genetic analysis of patients from India with hypohidrotic ectodermal dysplasia reveals novel mutations in the EDA and EDAR genes. 17970812 2008
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 GeneticVariation disease LHGDN A novel 22-bp deletion mutation in a Chinese family with X-linked hypohidrotic ectodermal dysplasia. 18427821 2008
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 GeneticVariation disease BEFREE All participants had clinical signs of ectodermal dysplasia and a disease-causing EDA mutation. 18510547 2008
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 GeneticVariation disease LHGDN A novel 4-bp insertion mutation in EDA1 gene in a Pakistani family with X-linked hypohidrotic ectodermal dysplasia. 17478381 2007
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 GeneticVariation disease LHGDN A point mutation of the ED1 gene in a Japanese family with X-linked hypohidrotic ectodermal dysplasia. 15663448 2005
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 Biomarker disease LHGDN A frameshift mutation of the ED1 gene in sibling cases with X-linked hypohidrotic ectodermal dysplasia. 12920369 2003
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 Biomarker disease LHGDN A novel mutation A1270G of the EDA1 gene causing Tyr343Cys substitution in ectodysplasin-A in a family with anhidrotic ectodermal dysplasia. 12673367 2003
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 GeneticVariation disease BEFREE Mutations in the human ectodysplasin-A (EDA) are responsible for the most common form of the ectodermal dysplasia and the defective orthologous gene in mice produces the tabby phenotype, suggesting its vital role in the development of hair, sweat glands and teeth. 11751679 2001
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 CausalMutation disease CLINVAR