Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2103
Gene Symbol: ESRRB
ESRRB
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker CLINGEN Combined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafness. 25342930

2014
Entrez Id: 2103
Gene Symbol: ESRRB
ESRRB
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker CLINGEN A novel missense mutation in the ESRRB gene causes DFNB35 hearing loss in a Tunisian family. 21802533

2012
Entrez Id: 2103
Gene Symbol: ESRRB
ESRRB
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker CLINGEN DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family. 22951369

2012
Entrez Id: 2103
Gene Symbol: ESRRB
ESRRB
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker CLINGEN A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families. 22567352

2011
Entrez Id: 2103
Gene Symbol: ESRRB
ESRRB
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker CLINGEN Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. 18179891

2008
Entrez Id: 2103
Gene Symbol: ESRRB
ESRRB
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker CLINGEN Estrogen-related receptor beta/NR3B2 controls epithelial cell fate and endolymph production by the stria vascularis. 17765677

2007