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: C3150990
Disease: LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY
LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY 		0.700 Biomarker disease CTD_human
CUI: C3150990
Disease: LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY
LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY 		0.700 GeneticVariation disease CLINVAR
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.400 Biomarker group HPO
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.310 GeneticVariation disease UNIPROT
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.100 Biomarker disease HPO
CUI: C0040485
Disease: Torticollis
Torticollis 		0.100 Biomarker phenotype HPO
CUI: C0234376
Disease: Action Tremor
Action Tremor 		0.100 Biomarker phenotype HPO
CUI: C0234649
Disease: Abnormal saccadic eye movement
Abnormal saccadic eye movement 		0.100 Biomarker disease HPO
CUI: C0239882
Disease: Head tremor
Head tremor 		0.100 Biomarker phenotype HPO
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism 		0.100 Biomarker disease HPO
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		0.100 Biomarker phenotype HPO
CUI: C4021243
Disease: Abnormality of thalamus morphology
Abnormality of thalamus morphology 		0.100 Biomarker disease HPO
CUI: C4025707
Disease: Abnormal motor neuron morphology
Abnormal motor neuron morphology 		0.100 Biomarker disease HPO
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.100 Biomarker group HPO
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		0.200 Therapeutic disease RGD Differential expression of hepatic sterol carrier proteins in the streptozotocin-treated diabetic rat. 7628371 1995
CUI: C0268281
Disease: Infantile neuronal ceroid lipofuscinosis
Infantile neuronal ceroid lipofuscinosis 		0.010 Biomarker disease BEFREE Assignment of sterol carrier protein X/sterol carrier protein 2 to 1p32 and its exclusion as the causative gene for infantile neuronal ceroid lipofuscinosis. 8004106 1994
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.010 GeneticVariation group BEFREE Consequently, it is unlikely that a mutation in SCPx/SCP2 is the underlying cause of this severe neurodegenerative disease of childhood. 8004106 1994
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		0.010 Biomarker disease BEFREE The mRNA concentrations of SCP2 in two out of three adrenocortical carcinomas were relatively lower than those in other types of tissue. 8640304 1996
CUI: C0034960
Disease: Refsum Disease
Refsum Disease 		0.010 Biomarker disease BEFREE A sterol-carrier protein-2 (SCP-2) knockout mouse model shares a similar clinical phenotype to Refsum's disease, but no mutations in SCP-2 have been described to-date in man. 11948235 2002
CUI: C0856727
Disease: Cholesterol gallstones
Cholesterol gallstones 		0.020 Biomarker disease BEFREE The SCP2 gene was overexpressed in patients with cholesterol gallstone, indicating that SCP2 may be one of the important causes of cholesterol gallstone. 15730934 2005
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: 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