LSS, lanosterol synthase, 4047

N. diseases: 74; N. variants: 10
Disease: HYPOTRICHOSIS 14 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748930
Disease: HYPOTRICHOSIS 14
HYPOTRICHOSIS 14 		0.400 GeneticVariation disease UNIPROT Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. 30401459 2018
CUI: C4748930
Disease: HYPOTRICHOSIS 14
HYPOTRICHOSIS 14 		0.400 CausalMutation disease CLINVAR