SETX, senataxin, 23064

N. diseases: 133; N. variants: 39
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: C0028738
Disease: Nystagmus
Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.100 None 0 1
CUI: C0020580
Disease: Hypesthesia
Hypesthesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 33 6 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: C3661519
Disease: Hereditary Motor Neuronopathy
Hereditary Motor Neuronopathy 		disease Nervous System Diseases Disease or Syndrome 12 1 0.010 None 1.000 1 2002 2002
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 17 0.110 None 1.000 1 2004 2004
CUI: C1859807
Disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder) 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 25 10 0.020 None 1.000 2 1999 2006
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 88 11 0.010 None 1.000 1 2006 2006
CUI: C4275170
Disease: Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome 5 1 0.020 None 1.000 2 2007 2007
CUI: C0747102
Disease: Ovarian failure
Ovarian failure 		disease Endocrine System Diseases Disease or Syndrome 39 1 0.010 None 1.000 1 2007 2007
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 119 24 0.010 None 1.000 1 2007 2007
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 2006 2008
CUI: C0333641
Disease: Atrophic
Atrophic 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 58 1 0.020 None 1.000 2 2007 2008
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 49 15 0.010 None 1.000 1 2008 2008
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		disease Nervous System Diseases Disease or Syndrome 64 20 0.010 None 1.000 1 2008 2008
CUI: C0749870
Disease: Upper motor neuron signs
Upper motor neuron signs 		phenotype Sign or Symptom 7 1 0.010 None 1.000 1 2008 2008
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 362 247 0.100 None 1.000 4 4 2004 2009
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 155 10 0.120 None 1.000 2 2002 2009
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		group Nervous System Diseases Disease or Syndrome 549 69 0.020 None 1.000 2 2008 2009
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		group Nervous System Diseases Disease or Syndrome 351 81 0.020 None 1.000 2 2008 2009
CUI: C0038379
Disease: Strabismus
Strabismus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.110 None 1.000 1 2009 2009
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		disease Nervous System Diseases Disease or Syndrome 156 32 0.110 None 1.000 1 2009 2009
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 173 90 0.010 None 1.000 1 2009 2009
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.110 None 1.000 1 2009 2009
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 333 115 0.010 None 1.000 1 2009 2009
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		group Nervous System Diseases Disease or Syndrome 167 37 0.010 None 1.000 1 2009 2009