ABCA4, ATP binding cassette subfamily A member 4, 24

N. diseases: 227; N. variants: 372
Disease: Rod-Cone Dystrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800553
rs1800553
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C4551714
Disease:
Rod-Cone Dystrophy 		0.010 GeneticVariation BEFREE Homozygosity for a novel complex allele G1961E/L857P causes a childhood-onset cone-rod dystrophy rather than the young-adult-onset macular dystrophy that is associated with G1961E alone. 31318848 2019
dbSNP: rs768435443
rs768435443
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C4551714
Disease:
Rod-Cone Dystrophy 		0.010 GeneticVariation BEFREE Homozygosity for a novel complex allele G1961E/L857P causes a childhood-onset cone-rod dystrophy rather than the young-adult-onset macular dystrophy that is associated with G1961E alone. 31318848 2019
dbSNP: rs281865404
rs281865404
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C4551714
Disease:
Rod-Cone Dystrophy 		0.010 GeneticVariation BEFREE We found a new pathologic ATP-binding cassette transporter (ABCA4) splice-site mutation, c.3523-2A>T and the previously reported c.5327C>T (p.P1776L) missense mutation in the arCRD patients. 17893657 2007