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: 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 A toxicogenomic approach to drug-induced phospholipidosis: analysis of its induction mechanism and establishment of a novel in vitro screening system. 15342952 2005
CUI: C0266539
Disease: Congenital total cataract
Congenital total cataract 		0.300 GermlineCausalMutation disease ORPHANET
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		0.100 Biomarker disease HPO
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes 		0.100 Biomarker phenotype HPO
CUI: C1862863
Disease: Sparse body hair
Sparse body hair 		0.100 Biomarker phenotype HPO
CUI: C1873509
Disease: Hypotrichosis of the scalp
Hypotrichosis of the scalp 		0.100 Biomarker phenotype HPO
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		0.100 Biomarker phenotype HPO
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		0.100 Biomarker phenotype HPO
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		0.100 Biomarker phenotype HPO
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		0.100 Biomarker phenotype HPO
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
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 Biomarker group BEFREE Intravital confocal laser scanning microscopy imaging of tumor tissues further demonstrated the rapid extravasation and penetration of Gluc-CDDP/m in OSC-19 tumors compared to non-targeted CDDP/m. 30844476 2019
CUI: C0086543
Disease: Cataract
Cataract 		0.030 Biomarker disease BEFREE In summary, UV-B exposure induced oxidative injury and resulted in crystallin denaturation and apoptosis in lens epithelial cells, and LSS might play a protective role during the early stages of this process and could be an important target in the cataract prevention. 31555133 2019
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: 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: C0027651
Disease: Neoplasms
Neoplasms 		0.030 AlteredExpression group BEFREE We hypothesize that differences in the expression of selected tumor suppressor genes, cell surface adhesion molecules, and multidrug resistance glycoproteins could account for some of the reported differences between uterine serous carcinoma (USC) and extrauterine serous carcinomas (ESC), including ovarian and primary peritoneal carcinoma (OSC and PSC, respectively). 11104615 2000
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 Biomarker group BEFREE OSC-1 cells showed tumour formation in nude mice, whereas OSC-2 cells did not. 9216685 1997
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 Biomarker group BEFREE Metabolomic and biochemical analyses identify lanosterol synthase as the direct molecular target of MI-2, revealing this metabolic enzyme as a vulnerability in glioma and further implicating cholesterol homeostasis as an attractive pathway to target in this malignancy. 30923116 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 Biomarker group BEFREE Metabolomic and biochemical analyses identify lanosterol synthase as the direct molecular target of MI-2, revealing this metabolic enzyme as a vulnerability in glioma and further implicating cholesterol homeostasis as an attractive pathway to target in this malignancy. 30923116 2019