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: C0042798
Disease: Low Vision
Low Vision
0.010 GeneticVariation disease BEFREE Mutations in human CRX are associated with the retinal diseases, cone-rod dystrophy-2 (adCRD2; refs 3, 4, 5), retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA), which all lead to loss of vision. 10581037 1999