CRX, cone-rod homeobox, 1406

N. diseases: 128; N. variants: 28
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0456909
Disease: Blindness
Blindness
0.130 Biomarker phenotype BEFREE CRX may be mutated in three forms of human blindness; Leber congenital amaurosis (LCA), cone-rod degeneration (CRD) and retinitis pigmentosa (RP). 29568065 2018
CUI: C0456909
Disease: Blindness
Blindness
0.130 GeneticVariation phenotype LHGDN Further evidence of autosomal-dominant Leber congenital amaurosis caused by heterozygous CRX mutation. 17347810 2007
CUI: C0456909
Disease: Blindness
Blindness
0.130 GeneticVariation phenotype LHGDN Novel frameshift mutations in CRX associated with Leber congenital amaurosis. 11748859 2001
CUI: C0456909
Disease: Blindness
Blindness
0.130 Biomarker phenotype HPO