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: C1849151
Disease: Hypermyelinated retinal nerve fibers
Hypermyelinated retinal nerve fibers 		phenotype Finding 1 0.100 None 0
CUI: C1849152
Disease: Swan neck-like deformities of the fingers
Swan neck-like deformities of the fingers 		phenotype Finding 1 0.100 None 0
CUI: C4023121
Disease: Abnormality of the cerebellar peduncle
Abnormality of the cerebellar peduncle 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C1849143
Disease: Progressive truncal ataxia
Progressive truncal ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 2 0.100 None 0
CUI: C4023041
Disease: Parietal cortical atrophy
Parietal cortical atrophy 		disease Anatomical Abnormality 2 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: C4022687
Disease: Abnormal motor evoked potentials
Abnormal motor evoked potentials 		phenotype Pathologic Function 4 0.100 None 0
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: C0265255
Disease: Trichorhinophalangeal syndrome
Trichorhinophalangeal syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 6 1 0.010 None 1.000 1 2016 2016
CUI: C4024905
Disease: Abnormality of the pons
Abnormality of the pons 		disease Anatomical Abnormality 7 0.100 None 0
CUI: C0393907
Disease: Axonal sensorimotor neuropathy
Axonal sensorimotor neuropathy 		disease Disease or Syndrome 9 2 0.010 None 1.000 1 2018 2018
CUI: C1853394
Disease: Gaze-evoked horizontal nystagmus
Gaze-evoked horizontal nystagmus 		phenotype Eye Diseases; Nervous System Diseases Finding 10 1 0.100 None 0
CUI: C0393519
Disease: Cerebellar Ataxia, Early Onset
Cerebellar Ataxia, Early Onset 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 12 0.020 None 1.000 2 2007 2018
CUI: C1861736
Disease: SPINOCEREBELLAR ATAXIA 31 (disorder)
SPINOCEREBELLAR ATAXIA 31 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 13 0.010 None 1.000 1 2012 2012
CUI: C1879362
Disease: Hypertyrosinemia
Hypertyrosinemia 		disease Disease or Syndrome 13 2 0.010 None 1.000 1 2001 2001
CUI: C0278184
Disease: Scanning speech
Scanning speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 13 0.100 None 0
CUI: C1859606
Disease: Decreased number of large peripheral myelinated nerve fibers
Decreased number of large peripheral myelinated nerve fibers 		phenotype Finding 14 0.100 None 0
CUI: C1849148
Disease: Decreased sensory nerve conduction velocity
Decreased sensory nerve conduction velocity 		phenotype Finding 15 0.100 None 0
CUI: C0268483
Disease: Tyrosinemias
Tyrosinemias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 17 3 0.010 None 1.000 1 2001 2001
CUI: C0751776
Disease: Atypical Inclusion-Body Disease
Atypical Inclusion-Body Disease 		disease Nervous System Diseases Disease or Syndrome 17 0.300 None 1.000 1 2015 2015
CUI: C0751777
Disease: Familial Progressive Myoclonic Epilepsy
Familial Progressive Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 17 0.300 None 1.000 1 2015 2015
CUI: C0751780
Disease: Biotin-Responsive Encephalopathy
Biotin-Responsive Encephalopathy 		disease Nervous System Diseases Disease or Syndrome 17 0.300 None 1.000 1 2015 2015
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: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		disease Nervous System Diseases Disease or Syndrome 20 20 0.300 None 1.000 1 2015 2015
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 21 27 0.010 None 1.000 1 2011 2011