FXN, frataxin, 2395

N. diseases: 220; N. variants: 21
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: C1856697
Disease: Mitochondrial malic enzyme reduced
Mitochondrial malic enzyme reduced 		phenotype Finding 1 0.100 None 0
CUI: C4021047
Disease: Impaired visually enhanced vestibulo-ocular reflex
Impaired visually enhanced vestibulo-ocular reflex 		phenotype Finding 1 0.100 None 0
CUI: C4025641
Disease: Decreased pyruvate carboxylase activity
Decreased pyruvate carboxylase activity 		phenotype Finding 1 0.100 None 0
CUI: C0393520
Disease: Harding ataxia
Harding ataxia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 2 0.020 None 1.000 2 1998 2000
CUI: C0742191
Disease: Cervical spinal cord atrophy
Cervical spinal cord atrophy 		disease Disease or Syndrome 2 0.100 None 0
CUI: C0393578
Disease: Pallidoluysian degeneration
Pallidoluysian degeneration 		disease Nervous System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2006 2006
CUI: C0521802
Disease: Congenital atransferrinemia
Congenital atransferrinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 4 0.010 None 1.000 1 2001 2001
CUI: C4518339
Disease: Sporadic adult-onset ataxia of unknown etiology
Sporadic adult-onset ataxia of unknown etiology 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Sign or Symptom 3 0.010 None 1.000 1 1998 1998
CUI: C0476369
Disease: Echocardiogram abnormal
Echocardiogram abnormal 		phenotype Finding 3 1 0.100 None 0
CUI: C4024943
Disease: Decreased amplitude of sensory action potentials
Decreased amplitude of sensory action potentials 		phenotype Finding 3 0.100 None 0
CUI: C1395088
Disease: Nervous system--Degeneration
Nervous system--Degeneration 		disease Disease or Syndrome 4 0.020 None 1.000 2 1978 2018
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: C0342784
Disease: Pearson's marrow-pancreas syndrome
Pearson's marrow-pancreas syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 5 4 0.010 None 1.000 1 2001 2001
CUI: C3711370
Disease: Spastic Paraplegia Type 7
Spastic Paraplegia Type 7 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 2 0.010 None 1.000 1 2012 2012
CUI: C3273225
Disease: Hereditary Neurodegenerative Disorder
Hereditary Neurodegenerative Disorder 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 0.020 None 1.000 2 2007 2008
CUI: C0042875
Disease: Vitamin E Deficiency
Vitamin E Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 6 0.010 None 1.000 1 1996 1996
CUI: C0393807
Disease: Hereditary motor and sensory neuropathy with optic atrophy (disorder)
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 11 0.010 None 1.000 1 2009 2009
CUI: C1838027
Disease: Incomprehensible speech
Incomprehensible speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 7 0.100 None 0
CUI: C0344955
Disease: Ventricular septal hypertrophy
Ventricular septal hypertrophy 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 8 3 0.010 None 1.000 1 2001 2001
CUI: C0751156
Disease: FRAXA Syndrome
FRAXA Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 8 1 0.010 None 1.000 1 1997 1997
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 8 51 0.010 None 1.000 1 2001 2001
CUI: C1963674
Disease: Spinocerebellar Ataxia 10
Spinocerebellar Ataxia 10 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 0.020 None 1.000 2 2005 2012
CUI: C0239830
Disease: Hand muscle atrophy
Hand muscle atrophy 		phenotype Finding 10 2 0.100 None 0
CUI: C0023009
Disease: Speech and language disorder
Speech and language disorder 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome 11 2 0.010 None 1.000 1 2020 2020
CUI: C0522055
Disease: Electrocardiogram abnormal
Electrocardiogram abnormal 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 11 54 0.100 None 0