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: C1395088
Disease: Nervous system--Degeneration
Nervous system--Degeneration 		disease Disease or Syndrome 4 0.020 None 1.000 2 1978 2018
CUI: C4087347
Disease: Autosomal dominant cerebellar ataxia
Autosomal dominant cerebellar ataxia 		disease Disease or Syndrome 31 2 0.020 None 1.000 2 1998 1998
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA 		disease Disease or Syndrome 36 7 0.010 None 1.000 1 2000 2000
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		phenotype Neoplastic Process 384 40 0.010 None 1.000 1 2019 2019
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.010 None 1.000 1 2018 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 1998 1998
CUI: C3276549
Disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY 		disease Disease or Syndrome 14 22 0.010 None 1.000 1 2009 2009
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		disease Disease or Syndrome 384 40 0.010 None 1.000 1 2019 2019
CUI: C3825201
Disease: Mitochondrial pathology
Mitochondrial pathology 		phenotype Disease or Syndrome 20 6 0.010 None 1.000 1 2017 2017
CUI: C0000921
Disease: Accidental Falls
Accidental Falls 		phenotype Injury or Poisoning 22 0.100 None 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		phenotype Finding 218 11 0.100 None 0
CUI: C0234649
Disease: Abnormal saccadic eye movement
Abnormal saccadic eye movement 		disease Anatomical Abnormality 17 1 0.100 None 0
CUI: C0239830
Disease: Hand muscle atrophy
Hand muscle atrophy 		phenotype Finding 10 2 0.100 None 0
CUI: C0476369
Disease: Echocardiogram abnormal
Echocardiogram abnormal 		phenotype Finding 3 1 0.100 None 0
CUI: C0742191
Disease: Cervical spinal cord atrophy
Cervical spinal cord atrophy 		disease Disease or Syndrome 2 0.100 None 0
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		phenotype Finding 57 24 0.100 None 0
CUI: C1842587
Disease: Sensory axonal neuropathy
Sensory axonal neuropathy 		phenotype Finding 23 1 0.100 None 0
CUI: C1843663
Disease: Urinary bladder sphincter dysfunction
Urinary bladder sphincter dysfunction 		phenotype Finding 28 1 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: C1856697
Disease: Mitochondrial malic enzyme reduced
Mitochondrial malic enzyme reduced 		phenotype Finding 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: C1867864
Disease: Poor fine motor coordination
Poor fine motor coordination 		phenotype Finding 31 3 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 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: C4024943
Disease: Decreased amplitude of sensory action potentials
Decreased amplitude of sensory action potentials 		phenotype Finding 3 0.100 None 0