CNTLN, centlein, 54875

N. diseases: 11; N. variants: 15
Disease: Blindness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0456909
Disease: Blindness
Blindness 		0.010 GeneticVariation phenotype BEFREE Mutations in the cilia-centrosomal protein CEP290 are frequently observed in autosomal recessive childhood blindness disorder Leber congenital amaurosis (LCA). 28679290 2018