RAI2, retinoic acid induced 2, 10742

N. diseases: 20; N. variants: 1
Disease: Cataract, congenital, with microcornea or slight microphthalmia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2930878
Disease: Cataract, congenital, with microcornea or slight microphthalmia
Cataract, congenital, with microcornea or slight microphthalmia 		0.010 GeneticVariation disease BEFREE Two known genes (RAI2 and RBBP7) and a novel gene (TL1) were screened for mutations within an affected male from the CXN family and an NHS family by direct sequencing of coding exons and intron- exon splice sites. 15370543 2004