Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 128178
Gene Symbol: EDARADD
EDARADD
CUI: C0000846
Disease: Agenesis
Agenesis 		0.030 GeneticVariation BEFREE Prioritization of variants "by function" allowed the identification of multiple variants contributing to the trait, including two concomitant heterozygous variants in EDARADD (c.308C>T, p.Ser103Phe) and COL5A1 (c.1588G>A, p.Gly530Ser), specifically associated with a more severe phenotype (i.e. canine agenesis). 29705498

2018
Entrez Id: 128178
Gene Symbol: EDARADD
EDARADD
CUI: C0000846
Disease: Agenesis
Agenesis 		0.030 Biomarker BEFREE WNT10A, EDA, EDAR and EDARADD were sequenced in 88 patients with isolated oligodontia and 26 patients with syndromic tooth agenesis. 24312213

2013
Entrez Id: 128178
Gene Symbol: EDARADD
EDARADD
CUI: C0000846
Disease: Agenesis
Agenesis 		0.030 Biomarker BEFREE Mutations in MSX1, PAX9, AXIN2 and the ectodermal dysplasia genes EDA, EDAR and EDARADD have been detected in familial severe tooth agenesis. 22581971

2012