LSS, lanosterol synthase, 4047

N. diseases: 74; N. variants: 10
Disease: Congenital cataract ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.040 GeneticVariation disease BEFREE Lanosterol synthase (LSS) gene was initially described in families with extensive congenital cataracts. 30723320 2019
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.040 Biomarker disease BEFREE Lanosterol synthase (LSS) abnormity contributes to lens opacity in rats, mice, dogs, and human congenital cataract development. 30116630 2018
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.040 GeneticVariation disease BEFREE Congenital cataract with LSS gene mutations: a new case report. 29016354 2017
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.040 GeneticVariation disease BEFREE Here we identify two distinct homozygous LSS missense mutations (W581R and G588S) in two families with extensive congenital cataracts. 26200341 2015