ABCA4, ATP binding cassette subfamily A member 4, 24

N. diseases: 227; N. variants: 372
Disease: Cone-Rod Dystrophy 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61753033
rs61753033
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C3489532
Disease:
Cone-Rod Dystrophy 2 		0.010 GeneticVariation BEFREE In family I, we have shown cosegregation of different ABCA4 alleles with CRD (homozygosity for L1940P) and three subtypes of STGD/FFM. 12442277 2002