EDARADD, EDAR associated death domain, 128178

N. diseases: 66; N. variants: 9
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908116
rs121908116
Entrez Id: 128178
Gene Symbol: EDARADD
EDARADD
CUI: C3541517
Disease:
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. 20979233 2011
dbSNP: rs74315309
rs74315309
Entrez Id: 128178
Gene Symbol: EDARADD
EDARADD
CUI: C3539920
Disease:
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases. 20222921 2010
dbSNP: rs121908116
rs121908116
Entrez Id: 128178
Gene Symbol: EDARADD
EDARADD
CUI: C3541517
Disease:
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus. 17354266 2007
dbSNP: rs74315309
rs74315309
Entrez Id: 128178
Gene Symbol: EDARADD
EDARADD
CUI: C3539920
Disease:
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus. 17354266 2007
dbSNP: rs74315309
rs74315309
Entrez Id: 128178
Gene Symbol: EDARADD
EDARADD
CUI: C3539920
Disease:
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Gene defect in ectodermal dysplasia implicates a death domain adapter in development. 11780064 2002
dbSNP: rs121908116
rs121908116
Entrez Id: 128178
Gene Symbol: EDARADD
EDARADD
CUI: C3541517
Disease:
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT 		G 0.800 CausalMutation CLINVAR
dbSNP: rs74315309
rs74315309
Entrez Id: 128178
Gene Symbol: EDARADD
EDARADD
CUI: C3539920
Disease:
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		A 0.800 CausalMutation CLINVAR
dbSNP: rs12117927
rs12117927
Entrez Id: 128178
Gene Symbol: EDARADD
EDARADD
CUI: C0020676
Disease:
Hypothyroidism 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs181126208
rs181126208
Entrez Id: 128178
Gene Symbol: EDARADD
EDARADD
CUI: C3894553
Disease:
response to simvastatin 		0.700 GeneticVariation GWASCAT Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes. 28736931 2018
dbSNP: rs181126208
rs181126208
Entrez Id: 128178
Gene Symbol: EDARADD
EDARADD
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 GeneticVariation GWASCAT Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes. 28736931 2018
dbSNP: rs121908116
rs121908116
Entrez Id: 128178
Gene Symbol: EDARADD
EDARADD
CUI: C3887494
Disease:
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		G 0.700 CausalMutation CLINVAR
dbSNP: rs397515575
rs397515575
Entrez Id: 128178
Gene Symbol: EDARADD
EDARADD
CUI: C3887494
Disease:
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		C 0.700 CausalMutation CLINVAR
dbSNP: rs74315309
rs74315309
Entrez Id: 128178
Gene Symbol: EDARADD
EDARADD
CUI: C3887494
Disease:
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		A 0.700 CausalMutation CLINVAR
dbSNP: rs879255553
rs879255553
Entrez Id: 128178
Gene Symbol: EDARADD
EDARADD
CUI: C3539920
Disease:
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		A 0.700 CausalMutation CLINVAR
dbSNP: rs879255629
rs879255629
Entrez Id: 128178
Gene Symbol: EDARADD
EDARADD
CUI: C4310894
Disease:
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT 		A 0.700 CausalMutation CLINVAR
dbSNP: rs954823206
rs954823206
Entrez Id: 128178
Gene Symbol: EDARADD
EDARADD
CUI: C3539920
Disease:
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs954823206
rs954823206
Entrez Id: 128178
Gene Symbol: EDARADD
EDARADD
CUI: C3541517
Disease:
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs114632254
rs114632254
Entrez Id: 128178
Gene Symbol: EDARADD
EDARADD
CUI: C0000846
Disease:
Agenesis 		0.010 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