SACS, sacsin molecular chaperone, 26278

N. diseases: 106; N. variants: 252
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: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 53 11 0.010 None 1.000 1 2018 2018
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 203 1423 0.010 None 1.000 1 2001 2001
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 36 64 0.010 None 1.000 1 2001 2001
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 201 661 0.010 None 1.000 1 2001 2001
CUI: C1849151
Disease: Hypermyelinated retinal nerve fibers
Hypermyelinated retinal nerve fibers 		phenotype Finding 1 0.100 None 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 539 19 0.100 None 0
CUI: C1879362
Disease: Hypertyrosinemia
Hypertyrosinemia 		disease Disease or Syndrome 13 2 0.010 None 1.000 1 2001 2001
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 385 49 0.100 None 0
CUI: C1837458
Disease: Impaired smooth pursuit
Impaired smooth pursuit 		phenotype Finding 25 1 0.100 None 0
CUI: C4021221
Disease: Impaired tactile sensation
Impaired tactile sensation 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 3 0.100 None 0
CUI: C1849134
Disease: Impaired vibration sensation in the lower limbs
Impaired vibration sensation in the lower limbs 		phenotype Finding 39 4 0.100 None 0
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		disease Nervous System Diseases Disease or Syndrome 104 4 0.300 None 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.410 limited 1.000 1 2016 2016
CUI: C1849146
Disease: Loss of Purkinje cells in the cerebellar vermis
Loss of Purkinje cells in the cerebellar vermis 		phenotype Finding 5 0.100 None 0
CUI: C1271100
Disease: Lower limb spasticity
Lower limb spasticity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 43 5 0.100 None 0
CUI: C0751782
Disease: May-White Syndrome
May-White Syndrome 		disease Nervous System Diseases Disease or Syndrome 17 0.300 None 1.000 1 2015 2015
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		disease Cardiovascular Diseases Disease or Syndrome 111 29 0.100 None 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 362 247 0.100 None 1.000 21 1 1993 2016
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.010 None 1.000 1 2013 2013
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 21 1 1993 2016
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 580 48 0.150 None 1.000 5 2004 2011
CUI: C0270952
Disease: Muscular Dystrophy, Oculopharyngeal
Muscular Dystrophy, Oculopharyngeal 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 33 4 0.010 None 1.000 1 2001 2001
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		disease Nervous System Diseases Disease or Syndrome 48 17 0.300 None 1.000 1 2015 2015
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		group Nervous System Diseases Disease or Syndrome 977 39 0.020 None 1.000 2 2013 2018
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1515 85 0.100 None 1.000 12 1999 2019