FXN, frataxin, 2395

N. diseases: 181; N. variants: 12
Source: BEFREE ×
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: 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 0.900 definitive 0.997 318 7 1976 2020
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 14 0.800 None 0.983 223 6 1997 2020
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 25 2 0.360 strong 1.000 6 1981 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 758 125 0.200 None 0.938 16 1988 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2650 714 0.200 None 1.000 10 1988 2020
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 353 213 0.170 None 0.857 7 1996 2019
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease Musculoskeletal Diseases Disease or Syndrome 104 15 0.120 None 1.000 2 2007 2016
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 71 6 0.120 None 1.000 2 2004 2018
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1575 156 0.120 None 1.000 2 2017 2020
CUI: C0013362
Disease: Dysarthria
Dysarthria 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 29 12 0.110 None 1.000 1 2 1999 1999
CUI: C0008489
Disease: Chorea
Chorea 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 49 6 0.110 None 1.000 1 1998 1998
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 98 17 0.110 None 1.000 1 2009 2009
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 25 0.110 None 1.000 1 2011 2011
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 126 9 0.110 None 1.000 1 1 2018 2018
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1480 85 0.100 None 0.988 83 1997 2020
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 420 64 0.100 None 0.980 50 2 1996 2020
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 343 52 0.100 None 0.977 44 1 1996 2019
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 134 3 0.100 None 1.000 16 1997 2020
CUI: C0282193
Disease: Iron Overload
Iron Overload 		disease Nutritional and Metabolic Diseases Disease or Syndrome 235 53 0.100 None 1.000 13 1999 2020
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 245 17 0.090 None 1.000 9 1997 2020
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2314 611 0.090 None 1.000 9 1988 2020
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		group Nervous System Diseases Disease or Syndrome 942 39 0.080 None 1.000 8 2003 2019
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 945 69 0.080 None 1.000 8 1996 2018
CUI: C1285162
Disease: Degenerative disorder
Degenerative disorder 		group Pathological Conditions, Signs and Symptoms Disease or Syndrome 152 6 0.070 None 1.000 7 2010 2020
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 372 27 0.070 None 0.857 7 1989 2011