LSS, lanosterol synthase, 4047

N. diseases: 74; N. variants: 10
Disease: Hypotrichosis simplex ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1854310
Disease: Hypotrichosis simplex
Hypotrichosis simplex 		0.320 Biomarker disease BEFREE Recently, a study has highlighted LSS associated with hypotrichosis simplex. 30723320 2019
CUI: C1854310
Disease: Hypotrichosis simplex
Hypotrichosis simplex 		0.320 GeneticVariation disease BEFREE The present report describes the identification via whole-exome sequencing of five different mutations in the gene LSS in three unrelated families with unexplained, potentially autosomal-recessive HS. 30401459 2018
CUI: C1854310
Disease: Hypotrichosis simplex
Hypotrichosis simplex 		0.320 GermlineCausalMutation disease ORPHANET The present report describes the identification via whole-exome sequencing of five different mutations in the gene LSS in three unrelated families with unexplained, potentially autosomal-recessive HS. 30401459 2018