ESRRB, estrogen related receptor beta, 2103

N. diseases: 102; N. variants: 7
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 35 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1837857
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 35
DEAFNESS, AUTOSOMAL RECESSIVE 35 		0.700 GeneticVariation disease UNIPROT Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. 18179891 2008
CUI: C1837857
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 35
DEAFNESS, AUTOSOMAL RECESSIVE 35 		0.700 Biomarker disease GENOMICS_ENGLAND Chromosomal mapping of the human and murine orphan receptors ERRalpha (ESRRA) and ERRbeta (ESRRB) and identification of a novel human ERRalpha-related pseudogene. 9344655 1997
CUI: C1837857
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 35
DEAFNESS, AUTOSOMAL RECESSIVE 35 		0.700 Biomarker disease CTD_human
CUI: C1837857
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 35
DEAFNESS, AUTOSOMAL RECESSIVE 35 		0.700 CausalMutation disease CLINVAR