CRX, cone-rod homeobox, 1406

N. diseases: 128; N. variants: 28
Disease: Congenital Amaurosis of Retinal Origin ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3540662
Disease: Congenital Amaurosis of Retinal Origin
Congenital Amaurosis of Retinal Origin 		0.300 Biomarker disease CTD_human Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function. 9931337 1999
CUI: C3540662
Disease: Congenital Amaurosis of Retinal Origin
Congenital Amaurosis of Retinal Origin 		0.300 Biomarker disease CTD_human De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. 9537410 1998