rs1800553, ABCA4

N. diseases: 17
Disease: CONE-ROD DYSTROPHY 3 (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CONE-ROD DYSTROPHY 3 (disorder)
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
0.700 CausalMutation CLINVAR Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe. 26593885 2016
CONE-ROD DYSTROPHY 3 (disorder)
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
0.700 CausalMutation CLINVAR Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. 22264887 2012
CONE-ROD DYSTROPHY 3 (disorder)
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
0.700 CausalMutation CLINVAR A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene. 22427542 2012
CONE-ROD DYSTROPHY 3 (disorder)
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
0.700 CausalMutation CLINVAR G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy. 19217903 2009
CONE-ROD DYSTROPHY 3 (disorder)
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
0.700 CausalMutation CLINVAR Biochemical defects in ABCR protein variants associated with human retinopathies. 11017087 2000