SCP2, sterol carrier protein 2, 6342

N. diseases: 50; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		0.010 Biomarker disease BEFREE Genes MRPS18A, CST1, and SCP2 were identified as candidate genes in the module, which was associated with clinical traits including pathological stage, histological grade, and liver function and which also affected overall survival of CCA patients. 31177590 2019
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		0.010 Biomarker disease BEFREE Here, we evaluated the expression characteristics of miR-15a and its relationship with the expression of acetyl-CoA acyltransferase 1 (<i>ACAA1</i>), acyl-CoA oxidase 1 (<i>ACOX1</i>) and sterol carrier protein 2 (<i>SCP2</i>) by qPCR analysis in Gushi chicken breast muscle at 6, 14, 22, and 30 weeks old, where we performed transfection tests of miR-15a mimics in intramuscular preadipocytes and verified the target gene of miR-15a in chicken fibroblasts (DF1). 31434294 2019
CUI: C0240765
Disease: Acquired pectus carinatum
Acquired pectus carinatum 		0.010 Biomarker disease BEFREE Here, we evaluated the expression characteristics of miR-15a and its relationship with the expression of acetyl-CoA acyltransferase 1 (<i>ACAA1</i>), acyl-CoA oxidase 1 (<i>ACOX1</i>) and sterol carrier protein 2 (<i>SCP2</i>) by qPCR analysis in Gushi chicken breast muscle at 6, 14, 22, and 30 weeks old, where we performed transfection tests of miR-15a mimics in intramuscular preadipocytes and verified the target gene of miR-15a in chicken fibroblasts (DF1). 31434294 2019
CUI: C0023524
Disease: Leukoencephalopathy, Progressive Multifocal
Leukoencephalopathy, Progressive Multifocal 		0.010 Biomarker disease BEFREE Here, we show that the phosphatase SCP1 and its isoforms SCP2/3 dephosphorylate PML at S518, thereby blocking PML ubiquitination and degradation mediated by the prolyl isomerase Pin1 and the ubiquitin ligase KLHL20. 25293974 2014
CUI: C4023113
Disease: Small vessel vasculitis
Small vessel vasculitis 		0.020 Biomarker disease BEFREE In line with this, CD1d-restricted type II NKT cells that recognize type II collagen peptide have been demonstrated to act as anti-inflammatory cells in diverse inflammation-induction models in mice, whereas pro-inflammatory CD1d-restricted type II NKT cells reactive with sterol carrier protein 2 peptide have been demonstrated to be involved in the development of small vessel vasculitis in rats. 29599785 2018
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.030 Biomarker disease BEFREE In vitro studies suggest that liver fatty acid binding protein (L-FABP) and sterol carrier protein-2/sterol carrier protein-x (SCP2/SCPx) gene products facilitate uptake and metabolism and detoxification of dietary-derived phytol in mammals. 27940000 2017
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		0.010 AlteredExpression disease BEFREE In vivo, SCP2 overexpression and high cholesterol diet could promote tumor growth. 31519191 2019
CUI: C0856727
Disease: Cholesterol gallstones
Cholesterol gallstones 		0.020 AlteredExpression disease BEFREE Moreover, SCP2 was expressed at higher levels in hereditary cholesterol gallstone patients than that of non-hereditary cholesterol gallstone patients. 21310066 2011
CUI: C0013421
Disease: Dystonia
Dystonia 		0.310 Biomarker phenotype CTD_human Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. 16685654 2006
CUI: C0013421
Disease: Dystonia
Dystonia 		0.310 GeneticVariation phenotype BEFREE Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. 16685654 2006
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		0.010 GeneticVariation group BEFREE Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. 16685654 2006
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.010 GeneticVariation disease BEFREE Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. 16685654 2006
CUI: C3150990
Disease: LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY
LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. 16685654 2006
CUI: C3150990
Disease: LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY
LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY 		0.700 GermlineCausalMutation disease ORPHANET Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. 16685654 2006
CUI: C3150990
Disease: LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY
LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. 16685654 2006
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.400 Biomarker group CTD_human Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. 16685654 2006
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.300 Biomarker disease CTD_human Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. 16685654 2006
CUI: C0271683
Disease: Polyneuropathy, Motor
Polyneuropathy, Motor 		0.300 Biomarker disease CTD_human Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. 16685654 2006
CUI: C0393588
Disease: Dystonia, Paroxysmal
Dystonia, Paroxysmal 		0.300 Biomarker phenotype CTD_human Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. 16685654 2006
CUI: C0393610
Disease: Dystonia, Diurnal
Dystonia, Diurnal 		0.300 Biomarker phenotype CTD_human Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. 16685654 2006
CUI: C0393851
Disease: Polyneuropathy, Critical Illness
Polyneuropathy, Critical Illness 		0.300 Biomarker disease CTD_human Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. 16685654 2006
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb 		0.300 Biomarker phenotype CTD_human Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. 16685654 2006
CUI: C0751448
Disease: Polyneuropathy, Familial
Polyneuropathy, Familial 		0.300 Biomarker disease CTD_human Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. 16685654 2006
CUI: C0751449
Disease: Acquired Polyneuropathy
Acquired Polyneuropathy 		0.300 Biomarker disease CTD_human Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. 16685654 2006
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.300 Biomarker disease CTD_human Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. 16685654 2006