Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
0.410 GeneticVariation GWASDB Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. 22863734

2012

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
0.410 GeneticVariation GWASDB SNPs near two genes not previously associated with cleft lip with and without cleft palate (MAFB, most significant SNP rs13041247, with odds ratio (OR) per minor allele = 0.704, 95% CI 0.635-0.778, P = 1.44 x 10(-11); and ABCA4, most significant SNP rs560426, with OR = 1.432, 95% CI 1.292-1.587, P = 5.01 x 10(-12)) and two previously identified regions (at chromosome 8q24 and IRF6) attained genome-wide significance. 20436469

2010