CRX, cone-rod homeobox, 1406

N. diseases: 128; N. variants: 28
Disease: Autosomal recessive retinitis pigmentosa ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		0.010 GeneticVariation disease BEFREE Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7. 26887858 2016