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: C0086543
Disease: Cataract
Cataract
0.030 GeneticVariation disease BEFREE Cataract onset was associated with the specific combination of Lss and Fdft1 mutant alleles that decreased cholesterol levels in cataractous lenses to about 57% of normal. 16440058 2006
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder)
0.010 GeneticVariation disease BEFREE Lanosterol synthase mutations cause cholesterol deficiency-associated cataracts in the Shumiya cataract rat. 16440058 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
CUI: C0519066
Disease: Acute Q fever
Acute Q fever
0.300 Biomarker disease CTD_human Coxiella burnetii inhabits a cholesterol-rich vacuole and influences cellular cholesterol metabolism. 16469060 2006
CUI: C1443892
Disease: Chronic Q Fever
Chronic Q Fever
0.300 Biomarker disease CTD_human Coxiella burnetii inhabits a cholesterol-rich vacuole and influences cellular cholesterol metabolism. 16469060 2006
CUI: C2973787
Disease: Coxiella burnetii Infection
Coxiella burnetii Infection
0.300 Biomarker disease CTD_human Coxiella burnetii inhabits a cholesterol-rich vacuole and influences cellular cholesterol metabolism. 16469060 2006
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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 Biomarker group BEFREE Using multiple steps, each of the CDDP-resistant cell lines, HSC-4-R, OSC-19-R, HOC313-R, was selected from HSC-4 cells derived from a cancer with medium invasiveness, OSC-19 cells derived from a cancer with high invasiveness and HOC313 cells derived from a cancer with the highest invasiveness. 17786364 2007
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.020 Biomarker group BEFREE Using multiple steps, each of the CDDP-resistant cell lines, HSC-4-R, OSC-19-R, HOC313-R, was selected from HSC-4 cells derived from a cancer with medium invasiveness, OSC-19 cells derived from a cancer with high invasiveness and HOC313 cells derived from a cancer with the highest invasiveness. 17786364 2007
CUI: C0040411
Disease: Tongue Neoplasms
Tongue Neoplasms
0.010 Biomarker group BEFREE IL13-PE38 mediated a synergistic antitumor effect with paclitaxel in OSC-19 in vitro and in vivo in the orthotopic OSCC tongue tumor model. 19065664 2009
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.010 Biomarker disease BEFREE In this study, 90 adults with OSC and 31 children with ALL were scanned by HRM analysis for IDH1 and IDH2 mutation hot spots. 22385606 2012
Childhood Acute Lymphoblastic Leukemia
0.010 Biomarker disease BEFREE In this study, 90 adults with OSC and 31 children with ALL were scanned by HRM analysis for IDH1 and IDH2 mutation hot spots. 22385606 2012
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
0.010 Biomarker disease BEFREE In this study, 90 adults with OSC and 31 children with ALL were scanned by HRM analysis for IDH1 and IDH2 mutation hot spots. 22385606 2012
CUI: C1335177
Disease: Ovarian Serous Adenocarcinoma
Ovarian Serous Adenocarcinoma
0.010 GeneticVariation disease BEFREE Advanced-stage ovarian serous carcinoma (OSC) generally have poor prognosis. 23836287 2013
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 Biomarker phenotype BEFREE Differentially expressed genes were mainly enriched in superpathway of cholesterol biosynthesis (ACAT2, MSMO1, LSS, FDFT1 and FDPS etc.), complement system (C3, C1R, C1S, CFR and CFB etc.), interferon signaling (IFIT1, IFIT3, IFITM1 and MX1 etc.), mTOR signaling (MRAS, PRKAA2, PLD1, RND3 and EIF4A1 etc.) and IGF1 signaling (MRAS, IGFBP7, JUN and FOS etc.), most of these pathways are implicated in tumorigenesis or chemotherapy resistance. 24294361 2013
CUI: C4225300
Disease: CATARACT 44
CATARACT 44
0.700 GeneticVariation disease UNIPROT Lanosterol reverses protein aggregation in cataracts. 26200341 2015
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
CUI: C0086543
Disease: Cataract
Cataract
0.030 Biomarker disease BEFREE Engineered expression of wild-type, but not mutant, LSS prevents intracellular protein aggregation of various cataract-causing mutant crystallins. 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: C0085580
Disease: Essential Hypertension
Essential Hypertension
0.010 GeneticVariation disease BEFREE Here, we investigated the hypothesis that lanosterol synthase rs2254524 alleles in vivo impact the blood pressure (BP) and EO responses evoked by a low dietary Na intake (<100 mEq/d, 2 weeks) among patients with mild essential hypertension. 26667413 2016
Hyperostosis, Diffuse Idiopathic Skeletal
0.010 Biomarker disease BEFREE In this exploratory study, both OSC and DKK-1 levels are correlated with the clinical conditions associated with excessive ossification, indicating that blood OSC and DKK-1 levels may serve as diagnostic biomarkers for AS, DISH, OPLL, and OYL. 28153008 2017
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.010 AlteredExpression disease BEFREE Our data showed that serum levels of OSC were higher, but Dkk-1 levels were lower in AS, DISH, OPLL, and OYL patients than those in the controls. 28153008 2017
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE
0.010 AlteredExpression disease BEFREE Serum levels of OSC were higher in the OPLL patients than those in the AS patients. 28153008 2017
CUI: C0028643
Disease: Numbness
Numbness
0.010 Biomarker phenotype BEFREE Eligibility criteria were as follows: age 50-85 years and the patient's conditions met the definition of lumbar spinal stenosis; the presence of neurogenic intermittent claudication caused by numbness and/or pain in the lower limbs; and magnetic resonance imaging-confirmed symptomatic LSS. 28228325 2017
CUI: C0030193
Disease: Pain
Pain
0.010 GeneticVariation phenotype BEFREE Eligibility criteria were as follows: age 50-85 years and the patient's conditions met the definition of lumbar spinal stenosis; the presence of neurogenic intermittent claudication caused by numbness and/or pain in the lower limbs; and magnetic resonance imaging-confirmed symptomatic LSS. 28228325 2017