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: 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: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.010 None 1.000 1 2003 2003
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: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 201 661 0.010 None 1.000 1 1996 1996
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.010 None 1.000 1 2020 2020
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: 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: 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: 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 0.010 None 1.000 1 1998 1998
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 12 13 0.010 None 1.000 1 2009 2009
CUI: C0393556
Disease: Complicated hereditary spastic paraplegia
Complicated hereditary spastic paraplegia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 16 0.010 None 1.000 1 2009 2009
CUI: C0393578
Disease: Pallidoluysian degeneration
Pallidoluysian degeneration 		disease Nervous System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2006 2006
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: C0394005
Disease: Ataxic cerebral palsy
Ataxic cerebral palsy 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 25 4 0.010 None 1.000 1 2018 2018
CUI: C0431129
Disease: Adamantinous Craniopharyngioma
Adamantinous Craniopharyngioma 		disease Neoplasms Neoplastic Process 48 6 0.010 None 1.000 1 2018 2018
CUI: C0442874
Disease: Neuropathy
Neuropathy 		group Nervous System Diseases Disease or Syndrome 484 110 0.010 None 1.000 1 2018 2018
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: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon 		disease Digestive System Diseases; Neoplasms Neoplastic Process 406 10 0.010 None 1.000 1 2005 2005
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.010 None 1.000 1 2018 2018
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.010 None 1.000 1 2006 2006
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 226 8 0.010 None 1.000 1 2009 2009
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 118 37 0.010 None 1.000 1 2018 2018
CUI: C0239981
Disease: Hypoalbuminemia
Hypoalbuminemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 107 9 0.010 None 1.000 1 2002 2002
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 35 1 0.010 None 1.000 1 2018 2018
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis 		disease Nutritional and Metabolic Diseases; Cardiovascular Diseases Disease or Syndrome 33 19 0.010 None 1.000 1 2018 2018