ABCA4, ATP binding cassette subfamily A member 4, 24

N. diseases: 227; N. variants: 372
Disease: Retinitis Pigmentosa ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs749526785
rs749526785
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0035334
Disease:
Retinitis Pigmentosa 		G 0.700 GeneticVariation CLINVAR Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations. 20554613 2010