rs62642564, ABCA4

N. diseases: 2
Disease: STARGARDT DISEASE 1 (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
0.800 GeneticVariation CLINVAR Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs. 28118664 2017
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
0.800 GeneticVariation CLINVAR Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy. 25283059 2015
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
0.800 GeneticVariation CLINVAR An informatics approach to analyzing the incidentalome. 22995991 2013
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
0.800 GeneticVariation CLINVAR Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. 22264887 2012
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
0.800 GeneticVariation CLINVAR High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy. 22025579 2011
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
0.800 GeneticVariation CLINVAR Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. 9781034 1998
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
0.800 CausalMutation CLINVAR
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
0.800 GeneticVariation UNIPROT