ACO2, aconitase 2, 50

N. diseases: 74; N. variants: 14
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.
INFANTILE CEREBELLAR-RETINAL DEGENERATION
disease Disease or Syndrome 2 7 0.740 None 1.000 5 7 2012 2019
CUI: C4225384
Disease: OPTIC ATROPHY 9
OPTIC ATROPHY 9
disease Disease or Syndrome 2 2 0.700 strong 1.000 2 2 2012 2014
CUI: C0271197
Disease: Scotoma, Paracentral
Scotoma, Paracentral
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 2 0.100 None 0
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 5 90 0.010 None 1.000 1 2013 2013
CUI: C4022919
Disease: Appendicular hypotonia
Appendicular hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 8 8 0.100 None 0 2
CUI: C3806442
Disease: Myoclonic spasms
Myoclonic spasms
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 10 2 0.100 None 0 2
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
disease Disease or Syndrome 14 22 0.010 None 1.000 1 2019 2019
CUI: C0155016
Disease: Color Blindness, Red-Green
Color Blindness, Red-Green
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 24 0.100 None 0
CUI: C0078981
Disease: Arachnoid Cysts
Arachnoid Cysts
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 31 6 0.100 None 0 2
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA
disease Disease or Syndrome 36 7 0.010 None 1.000 1 2016 2016
CUI: C0004158
Disease: Athetosis
Athetosis
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 39 3 0.100 None 0
CUI: C3887709
Disease: Optic Neuropathy
Optic Neuropathy
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 54 8 0.020 None 1.000 2 2014 2018
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly
phenotype Finding 67 4 0.100 None 0
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 68 13 0.100 None 0 2
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 95 14 0.100 None 0
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve
group Eye Diseases; Nervous System Diseases Disease or Syndrome 112 2 0.020 None 1.000 2 2014 2018
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 117 45 0.010 None 1.000 1 2019 2019
Sensorineural hearing loss, bilateral
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 117 30 0.100 None 0 2
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 24 0.010 None 1.000 1 2019 2019
CUI: C0030232
Disease: Pallor
Pallor
phenotype Pathological Conditions, Signs and Symptoms Finding 124 4 0.100 None 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay
phenotype Finding 130 50 0.100 None 0
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 147 10 0.100 None 0
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases
group Respiratory Tract Diseases Disease or Syndrome 198 109 0.100 None 1.000 1 1 2019 2019
CUI: C0234146
Disease: Absent reflex
Absent reflex
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 201 16 0.100 None 0
CUI: C3714948
Disease: PACHYONYCHIA CONGENITA 3
PACHYONYCHIA CONGENITA 3
disease Disease or Syndrome 209 20 0.010 None 1.000 1 2005 2005