CRX, cone-rod homeobox, 1406

N. diseases: 128; N. variants: 28
Disease: Retinal Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.060 Biomarker group BEFREE Cone and cone-rod dystrophies (CD and CRD, respectively) are degenerative retinal diseases that predominantly affect the cone photoreceptors. 29184169 2018
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.060 GeneticVariation group BEFREE Human CRX mutations can cause dominant retinopathies of varying onset and phenotype severity. 28903150 2017
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.060 Biomarker group BEFREE These animal models also reveal unexpected pathogenic mechanisms underlying CRX-associated retinopathies. 24888636 2014
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.060 GeneticVariation group BEFREE Mutations in human CRX are associated with the dominant retinopathies Retinitis Pigmentosa (RP), Cone-Rod Dystrophy (CoRD) and Leber Congenital Amaurosis (LCA), with variable severity. 24516401 2014
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.060 Biomarker group BEFREE In addition, it demonstrates the effectiveness of CRX-based cis-regulatory mapping in prioritizing candidate genes from exome data and suggests that this strategy should be generally applicable to a range of retinal diseases. 21835304 2011
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.060 GeneticVariation group BEFREE Truncation mutations in CRX are associated with retinopathies that share phenotypic features but vary in disease severity. 9804150 1998