rs62636273, CRB1

N. diseases: 3
Disease: Macular dystrophy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
0.700 CausalMutation CLINVAR A clinical and molecular characterisation of CRB1-associated maculopathy. 29391521 2018
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
0.700 CausalMutation CLINVAR Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. 15024725 2004