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: C1843885
Disease: Progressive gait ataxia
Progressive gait ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 21 3 0.100 None 0
CUI: C0000921
Disease: Accidental Falls
Accidental Falls 		phenotype Injury or Poisoning 22 0.100 None 0
CUI: C1849140
Disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 23 240 0.800 None 1.000 77 240 1999 2019
CUI: C1837458
Disease: Impaired smooth pursuit
Impaired smooth pursuit 		phenotype Finding 25 1 0.100 None 0
CUI: C1849156
Disease: Spastic Ataxia
Spastic Ataxia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 28 3 0.150 None 1.000 5 1 2000 2019
CUI: C0078981
Disease: Arachnoid Cysts
Arachnoid Cysts 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 31 6 0.100 None 0
CUI: C0742028
Disease: Cerebellar vermis atrophy
Cerebellar vermis atrophy 		phenotype Finding 32 6 0.100 None 0
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: C0558845
Disease: Reflex, Ankle, Absent
Reflex, Ankle, Absent 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 33 5 0.100 None 0
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 33 8 0.100 None 0
CUI: C4553976
Disease: Urinary Urgency, CTCAE 5
Urinary Urgency, CTCAE 5 		phenotype Finding 34 0.100 None 0
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 35 3 0.100 None 1.000 1 1 2010 2010
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: 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: C0085606
Disease: Urgency of micturition
Urgency of micturition 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Sign or Symptom 40 1 0.100 None 0
CUI: C1858729
Disease: Decreased motor nerve conduction velocity
Decreased motor nerve conduction velocity 		phenotype Finding 41 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: C1136179
Disease: Hammer Toe
Hammer Toe 		phenotype Musculoskeletal Diseases Anatomical Abnormality 46 11 0.100 None 0
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: 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: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 56 17 0.010 None 1.000 1 2015 2015
CUI: C0016506
Disease: Foot Deformities
Foot Deformities 		group Musculoskeletal Diseases Anatomical Abnormality 66 5 0.100 None 0
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness 		phenotype Finding 70 4 0.100 None 0
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 84 4 0.010 None 1.000 1 2013 2013
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 86 5 0.100 None 0