ESRRB, estrogen related receptor beta, 2103

N. diseases: 102; N. variants: 7
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909110
rs121909110
Entrez Id: 2103
Gene Symbol: ESRRB
ESRRB
CUI: C1837857
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 35 		0.800 GeneticVariation UNIPROT Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. 18179891 2008
dbSNP: rs121909111
rs121909111
Entrez Id: 2103
Gene Symbol: ESRRB
ESRRB
CUI: C1837857
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 35 		0.800 GeneticVariation UNIPROT Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. 18179891 2008
dbSNP: rs121909110
rs121909110
Entrez Id: 2103
Gene Symbol: ESRRB
ESRRB
CUI: C1837857
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 35 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121909111
rs121909111
Entrez Id: 2103
Gene Symbol: ESRRB
ESRRB
CUI: C1837857
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 35 		T 0.800 CausalMutation CLINVAR
dbSNP: rs201714970
rs201714970
Entrez Id: 2103
Gene Symbol: ESRRB
ESRRB
CUI: C1837857
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 35 		0.700 GeneticVariation UNIPROT Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. 18179891 2008
dbSNP: rs1060499794
rs1060499794
Entrez Id: 2103
Gene Symbol: ESRRB
ESRRB
CUI: C1837857
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 35 		A 0.700 CausalMutation CLINVAR
dbSNP: rs375916159
rs375916159
Entrez Id: 2103
Gene Symbol: ESRRB
ESRRB
CUI: C1837857
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 35 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1269396908
rs1269396908
Entrez Id: 2103
Gene Symbol: ESRRB
ESRRB
CUI: C1384666
Disease:
hearing impairment 		0.010 GeneticVariation BEFREE The known pathogenic c.226C>T variant identified in <i>KCNE1</i> only segregates with the hearing loss phenotype in a subset of affected members of the family GCNF21. 31835641 2019
dbSNP: rs6574293
rs6574293
Entrez Id: 2103
Gene Symbol: ESRRB
ESRRB
CUI: C0039494
Disease:
Temporomandibular Joint Disorders 		0.010 GeneticVariation BEFREE The rs1676303 TT (P=0.02) and rs6574293 GG (P=0.04) genotypes were associated with RCD and TMD, respectively. 26584852 2016