rs281865377, ABCA4

N. diseases: 6
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)
0.700 GeneticVariation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967 2016
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
0.700 CausalMutation CLINVAR Gene symbol: ABCA4. Disease: Macular dystrophy. 20960624 2008
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
0.700 GeneticVariation CLINVAR Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. 11527935 2001
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
0.700 CausalMutation CLINVAR Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. 11527935 2001
CONE-ROD DYSTROPHY 3 (disorder)
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
0.700 CausalMutation CLINVAR
Cone-Rod Dystrophies
CUI: C4085590
Disease: Cone-Rod Dystrophies
0.700 CausalMutation CLINVAR
RETINITIS PIGMENTOSA 19
CUI: C1866422
Disease: RETINITIS PIGMENTOSA 19
0.700 CausalMutation CLINVAR