EDAR, ectodysplasin A receptor, 10913

N. diseases: 69; N. variants: 36
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908450
rs121908450
Entrez Id: 5903;10913
Gene Symbol: RANBP2;EDAR
RANBP2;EDAR
CUI: C3887494
Disease:
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients. 27657131 2016
dbSNP: rs121908454
rs121908454
Entrez Id: 5903;10913
Gene Symbol: RANBP2;EDAR
RANBP2;EDAR
CUI: C3887494
Disease:
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients. 27657131 2016
dbSNP: rs121908455
rs121908455
Entrez Id: 5903;10913
Gene Symbol: RANBP2;EDAR
RANBP2;EDAR
CUI: C3887494
Disease:
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients. 27657131 2016
dbSNP: rs773885029
rs773885029
Entrez Id: 5903;10913
Gene Symbol: RANBP2;EDAR
RANBP2;EDAR
CUI: C3887494
Disease:
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients. 27657131 2016
dbSNP: rs121908450
rs121908450
Entrez Id: 5903;10913
Gene Symbol: RANBP2;EDAR
RANBP2;EDAR
CUI: C3887494
Disease:
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. 20979233 2011
dbSNP: rs121908454
rs121908454
Entrez Id: 5903;10913
Gene Symbol: RANBP2;EDAR
RANBP2;EDAR
CUI: C3887494
Disease:
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. 20979233 2011
dbSNP: rs121908455
rs121908455
Entrez Id: 5903;10913
Gene Symbol: RANBP2;EDAR
RANBP2;EDAR
CUI: C3887494
Disease:
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. 20979233 2011
dbSNP: rs773885029
rs773885029
Entrez Id: 5903;10913
Gene Symbol: RANBP2;EDAR
RANBP2;EDAR
CUI: C3887494
Disease:
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. 20979233 2011
dbSNP: rs121908450
rs121908450
Entrez Id: 5903;10913
Gene Symbol: RANBP2;EDAR
RANBP2;EDAR
CUI: C3887494
Disease:
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia. 19438931 2009
dbSNP: rs121908454
rs121908454
Entrez Id: 5903;10913
Gene Symbol: RANBP2;EDAR
RANBP2;EDAR
CUI: C3887494
Disease:
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia. 19438931 2009
dbSNP: rs121908455
rs121908455
Entrez Id: 5903;10913
Gene Symbol: RANBP2;EDAR
RANBP2;EDAR
CUI: C3887494
Disease:
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia. 19438931 2009
dbSNP: rs773885029
rs773885029
Entrez Id: 5903;10913
Gene Symbol: RANBP2;EDAR
RANBP2;EDAR
CUI: C3887494
Disease:
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia. 19438931 2009
dbSNP: rs121908450
rs121908450
Entrez Id: 5903;10913
Gene Symbol: RANBP2;EDAR
RANBP2;EDAR
CUI: C3887494
Disease:
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. 18231121 2008
dbSNP: rs121908453
rs121908453
Entrez Id: 5903;10913
Gene Symbol: RANBP2;EDAR
RANBP2;EDAR
CUI: C3888065
Disease:
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT 		T 0.800 CausalMutation CLINVAR Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. 18231121 2008
dbSNP: rs121908453
rs121908453
Entrez Id: 5903;10913
Gene Symbol: RANBP2;EDAR
RANBP2;EDAR
CUI: C3888065
Disease:
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. 18231121 2008
dbSNP: rs121908454
rs121908454
Entrez Id: 5903;10913
Gene Symbol: RANBP2;EDAR
RANBP2;EDAR
CUI: C3887494
Disease:
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. 18231121 2008
dbSNP: rs121908455
rs121908455
Entrez Id: 5903;10913
Gene Symbol: RANBP2;EDAR
RANBP2;EDAR
CUI: C3887494
Disease:
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. 18231121 2008
dbSNP: rs773885029
rs773885029
Entrez Id: 5903;10913
Gene Symbol: RANBP2;EDAR
RANBP2;EDAR
CUI: C3887494
Disease:
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. 18231121 2008
dbSNP: rs121908450
rs121908450
Entrez Id: 5903;10913
Gene Symbol: RANBP2;EDAR
RANBP2;EDAR
CUI: C3887494
Disease:
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia. 16435307 2006
dbSNP: rs121908453
rs121908453
Entrez Id: 5903;10913
Gene Symbol: RANBP2;EDAR
RANBP2;EDAR
CUI: C3888065
Disease:
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT 		T 0.800 CausalMutation CLINVAR Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia. 16435307 2006
dbSNP: rs121908454
rs121908454
Entrez Id: 5903;10913
Gene Symbol: RANBP2;EDAR
RANBP2;EDAR
CUI: C3887494
Disease:
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia. 16435307 2006
dbSNP: rs121908455
rs121908455
Entrez Id: 5903;10913
Gene Symbol: RANBP2;EDAR
RANBP2;EDAR
CUI: C3887494
Disease:
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia. 16435307 2006
dbSNP: rs773885029
rs773885029
Entrez Id: 5903;10913
Gene Symbol: RANBP2;EDAR
RANBP2;EDAR
CUI: C3887494
Disease:
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia. 16435307 2006
dbSNP: rs121908450
rs121908450
Entrez Id: 5903;10913
Gene Symbol: RANBP2;EDAR
RANBP2;EDAR
CUI: C3887494
Disease:
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia. 16029325 2005
dbSNP: rs121908454
rs121908454
Entrez Id: 5903;10913
Gene Symbol: RANBP2;EDAR
RANBP2;EDAR
CUI: C3887494
Disease:
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia. 16029325 2005