ABCA4, ATP binding cassette subfamily A member 4, 24

N. diseases: 227; N. variants: 372
Disease: Severe visual impairment ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1301509
Disease: Severe visual impairment
Severe visual impairment 		0.020 GeneticVariation disease BEFREE Mutations in the gene encoding ABCA4 are responsible for Stargardt disease (STGD1), an autosomal recessive retinal degenerative disease that causes severe vision loss. 29145636 2018
CUI: C1301509
Disease: Severe visual impairment
Severe visual impairment 		0.020 GeneticVariation disease BEFREE Over 400 mutations in ABCA4 have been linked to Stargardt macular degeneration and related retinal degenerative diseases that cause severe vision loss in affected individuals. 17994272 2007