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 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 Biomarker disease GENOMICS_ENGLAND SCP2 mutations and neurodegeneration with brain iron accumulation. 26497993 2015
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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.310 GeneticVariation disease UNIPROT
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: 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: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.400 Biomarker group HPO
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: C3150990
Disease: LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY
LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY 		0.700 Biomarker disease CTD_human
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
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