RARA, retinoic acid receptor alpha, 5914

N. diseases: 225; N. variants: 3
Disease: Congenital absence of kidney ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney 		0.010 GeneticVariation disease BEFREE Genetic investigations have identified several gene variants that cause RA, including <i>EYA1</i>, <i>LHX1</i>, and <i>WT1</i> However, whereas compound null mutations of genes encoding α and γ retinoic acid receptors (RARs) cause RA in mice, to date there have been no reports of variants in RAR genes causing RA in humans. 28739660 2017