LSS, lanosterol synthase, 4047

N. diseases: 74; N. variants: 10
Disease: Congenital cataract ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs864622780
rs864622780
Entrez Id: 4047;109623452
Gene Symbol: LSS;SNORD159
LSS;SNORD159
CUI: C0009691
Disease:
Congenital cataract 		0.010 GeneticVariation BEFREE Here we identify two distinct homozygous LSS missense mutations (W581R and G588S) in two families with extensive congenital cataracts. 26200341 2015