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: C1865416
Disease: Pallor of dorsal columns of the spinal cord
Pallor of dorsal columns of the spinal cord 		phenotype Finding 1 0.100 None 0
CUI: C1865417
Disease: Diffuse axonal swelling
Diffuse axonal swelling 		phenotype Finding 2 0.100 None 0
CUI: C0752252
Disease: Neuromuscular Manifestations
Neuromuscular Manifestations 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 3 0.010 None < 0.001 1 2010 2010
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: C4021578
Disease: Chronic axonal neuropathy
Chronic axonal neuropathy 		disease Disease or Syndrome 5 0.100 None 0
CUI: C4021583
Disease: Impaired distal tactile sensation
Impaired distal tactile sensation 		phenotype Finding 5 0.100 None 0
CUI: C1853766
Disease: Pontocerebellar atrophy
Pontocerebellar atrophy 		phenotype Finding 6 1 0.100 None 0
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: C1835265
Disease: Lymphedema, microcephaly and chorioretinopathy syndrome
Lymphedema, microcephaly and chorioretinopathy syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 7 23 0.010 None 1.000 1 2019 2019
CUI: C1865409
Disease: Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic Lateral Sclerosis 4, Juvenile 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 8 8 0.770 None 1.000 20 8 2004 2018
CUI: C0393907
Disease: Axonal sensorimotor neuropathy
Axonal sensorimotor neuropathy 		disease Disease or Syndrome 9 2 0.010 None 1.000 1 2019 2019
CUI: C4025830
Disease: Peripheral axonal degeneration
Peripheral axonal degeneration 		phenotype Finding 9 0.100 None 0
CUI: C4024957
Disease: Proximal spinal muscular atrophy
Proximal spinal muscular atrophy 		disease Nervous System Diseases Disease or Syndrome 10 0.010 None 1.000 1 2012 2012
CUI: C1853767
Disease: Impaired distal vibration sensation
Impaired distal vibration sensation 		phenotype Finding 10 1 0.100 None 0
CUI: C4012790
Disease: Ataxia-Telangiectasisa-Like Disorder 1
Ataxia-Telangiectasisa-Like Disorder 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 11 15 0.020 None 1.000 2 2007 2011
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: C1858391
Disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER
ATAXIA-TELANGIECTASIA-LIKE DISORDER 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 12 13 0.020 None 1.000 2 2007 2011
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: 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: C0235971
Disease: Elevated alpha-fetoprotein
Elevated alpha-fetoprotein 		phenotype Finding 14 1 0.100 None 0
CUI: C0234366
Disease: Ataxic
Ataxic 		phenotype Sign or Symptom 15 4 0.010 None < 0.001 1 2009 2009
CUI: C1843505
Disease: Degeneration of anterior horn cells
Degeneration of anterior horn cells 		phenotype Nervous System Diseases Finding 15 0.100 None 0
CUI: C1856691
Disease: Impaired proprioception
Impaired proprioception 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 15 3 0.100 None 0
CUI: C1837496
Disease: Axonal degeneration
Axonal degeneration 		phenotype Finding 17 0.100 None 0
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 18 32 0.020 None 1.000 2 2006 2010