CRX, cone-rod homeobox, 1406

N. diseases: 128; N. variants: 28
Disease: Macular dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		0.130 Biomarker disease BEFREE Identical EYS variants were found in cases with RP, CRD, and macular dystrophy. 31074760 2019
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		0.130 GeneticVariation disease BEFREE We describe an intrafamilial variable expressivity of a CRX mutation causing an isolated macular dystrophy. 30067412 2018
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		0.130 GeneticVariation disease BEFREE CRX mutations are associated with a variety of clinical phenotypes, including an adult-onset macular dystrophy that simulates BCAMD with a bull's eye macular lesion and fairly well preserved VA. 28945142 2018
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		0.130 GeneticVariation disease CLINVAR