SCP2, sterol carrier protein 2, 6342

N. diseases: 50; N. variants: 1
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0234649
Disease: Abnormal saccadic eye movement
Abnormal saccadic eye movement 		disease Anatomical Abnormality 17 1 0.100 None 0
CUI: C0040485
Disease: Torticollis
Torticollis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 55 10 0.100 None 0
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism 		disease Endocrine System Diseases Disease or Syndrome 80 6 0.100 None 0
CUI: C0239882
Disease: Head tremor
Head tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 21 0.100 None 0
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		phenotype Nervous System Diseases Sign or Symptom 60 12 0.100 None 0
CUI: C4021243
Disease: Abnormality of thalamus morphology
Abnormality of thalamus morphology 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C0004509
Disease: Azoospermia
Azoospermia 		disease Male Urogenital Diseases Disease or Syndrome 254 70 0.100 None 0
CUI: C4025707
Disease: Abnormal motor neuron morphology
Abnormal motor neuron morphology 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C0234376
Disease: Action Tremor
Action Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 95 2 0.100 None 0
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		group Nervous System Diseases Disease or Syndrome 549 69 0.100 None 0
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1515 85 0.010 None 1.000 1 1994 1994
CUI: C0268281
Disease: Infantile neuronal ceroid lipofuscinosis
Infantile neuronal ceroid lipofuscinosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 22 4 0.010 None 1.000 1 1994 1994
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 522 0.200 None 1.000 1 1995 1995
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 281 46 0.010 None 1.000 1 1996 1996
CUI: C0034960
Disease: Refsum Disease
Refsum Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 9 14 0.010 None 1.000 1 2002 2002
CUI: C0856727
Disease: Cholesterol gallstones
Cholesterol gallstones 		disease Digestive System Diseases Disease or Syndrome 51 12 0.020 None 1.000 2 2005 2011
CUI: C3150990
Disease: LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY
LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY 		disease Disease or Syndrome 1 1 0.700 None 1.000 2 1 2006 2015
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		group Nervous System Diseases Disease or Syndrome 189 17 0.400 None 1.000 1 2006 2006
CUI: C0393851
Disease: Polyneuropathy, Critical Illness
Polyneuropathy, Critical Illness 		disease Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 1 2006 2006
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		disease Nervous System Diseases Disease or Syndrome 64 20 0.010 None 1.000 1 2006 2006
CUI: C0271683
Disease: Polyneuropathy, Motor
Polyneuropathy, Motor 		disease Nervous System Diseases Disease or Syndrome 32 3 0.300 None 1.000 1 2006 2006
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		group Nervous System Diseases Disease or Syndrome 167 37 0.010 None 1.000 1 2006 2006
CUI: C0393610
Disease: Dystonia, Diurnal
Dystonia, Diurnal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 18 0.300 None 1.000 1 2006 2006
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		disease Nervous System Diseases Disease or Syndrome 156 32 0.300 None 1.000 1 2006 2006
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 42 9 0.300 None 1.000 1 2006 2006