LSS, lanosterol synthase, 4047

N. diseases: 74; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225300
Disease: CATARACT 44
CATARACT 44 		0.700 Biomarker disease GENOMICS_ENGLAND Congenital cataract with LSS gene mutations: a new case report. 29016354 2017
CUI: C4225300
Disease: CATARACT 44
CATARACT 44 		0.700 GeneticVariation disease UNIPROT Lanosterol reverses protein aggregation in cataracts. 26200341 2015
CUI: C4225300
Disease: CATARACT 44
CATARACT 44 		0.700 Biomarker disease GENOMICS_ENGLAND Self-Expandable Metallic Stent Placement in Malignant Gastric Outlet Obstruction: A Comparison Between 2 Brands of Stents. 26200641 2015
CUI: C4225300
Disease: CATARACT 44
CATARACT 44 		0.700 CausalMutation disease CLINVAR
CUI: C4225300
Disease: CATARACT 44
CATARACT 44 		0.700 Biomarker disease CTD_human
CUI: C0002170
Disease: Alopecia
Alopecia 		0.420 GeneticVariation disease BEFREE We expanded the phenotypic spectrum of LSS to a recessive neuroectodermal syndrome formerly named alopecia with mental retardation (APMR) syndrome. 30723320 2019
CUI: C0002170
Disease: Alopecia
Alopecia 		0.420 Biomarker disease BEFREE The identification of LSS as causal gene for autosomal-recessive HS highlights the importance of the cholesterol pathway in hair follicle biology and may facilitate novel therapeutic approaches for hair loss disorders in general. 30401459 2018
CUI: C0002170
Disease: Alopecia
Alopecia 		0.420 Biomarker disease GENOMICS_ENGLAND We applied whole exome sequencing for a pediatric patient with congenital cataract, small penis, baldness and absence of eyebrows and detected a compound heterozygous mutation in the lanosterol synthase (LSS) gene. 29016354 2017
CUI: C0002170
Disease: Alopecia
Alopecia 		0.420 Biomarker disease HPO
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
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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.320 GeneticVariation group BEFREE Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome. 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.320 Biomarker group GENOMICS_ENGLAND Congenital cataract with LSS gene mutations: a new case report. 29016354 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.320 Biomarker group BEFREE Individuals with ID (n = 15,289) were matched with a control population by sex, birth year, and year of first hospitalisation/out-patient visit/access to LSS services. 29166873 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.300 Biomarker disease GENOMICS_ENGLAND Congenital cataract with LSS gene mutations: a new case report. 29016354 2017
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.300 Biomarker phenotype GENOMICS_ENGLAND Congenital cataract with LSS gene mutations: a new case report. 29016354 2017
CUI: C0036572
Disease: Seizures
Seizures 		0.300 Biomarker phenotype GENOMICS_ENGLAND Congenital cataract with LSS gene mutations: a new case report. 29016354 2017
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		0.300 Biomarker group GENOMICS_ENGLAND Congenital cataract with LSS gene mutations: a new case report. 29016354 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker disease GENOMICS_ENGLAND Congenital cataract with LSS gene mutations: a new case report. 29016354 2017
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system 		0.300 Biomarker phenotype GENOMICS_ENGLAND Congenital cataract with LSS gene mutations: a new case report. 29016354 2017
CUI: C0023794
Disease: Lipoidosis
Lipoidosis 		0.300 Biomarker disease CTD_human Improved toxicogenomic screening for drug-induced phospholipidosis using a multiplexed quantitative gene expression ArrayPlate assay. 16919414 2006
CUI: C0034362
Disease: Q Fever
Q Fever 		0.300 Biomarker disease CTD_human Coxiella burnetii inhabits a cholesterol-rich vacuole and influences cellular cholesterol metabolism. 16469060 2006