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.
SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE
disease Disease or Syndrome 1 1 0.700 None 1.000 2 1 2015 2018
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
disease Disease or Syndrome 3 12 0.710 None 1.000 5 12 2013 2018
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4
disease Disease or Syndrome 3 3 0.010 None 1.000 1 2018 2018
Multiple Mitochondrial Dysfunctions Syndrome
disease Nutritional and Metabolic Diseases Disease or Syndrome 5 2 0.300 None 0
Distal peripheral sensory neuropathy
disease Disease or Syndrome 6 0.100 None 0
CUI: C1837323
Disease: Decreased Achilles reflex
Decreased Achilles reflex
phenotype Finding 7 0.100 None 0
Decreased activity of mitochondrial complex II
phenotype Finding 7 2 0.100 None 0
CUI: C0240116
Disease: Hyperactive patellar reflex
Hyperactive patellar reflex
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 14 3 0.100 None 0
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy
disease Pathological Conditions, Signs and Symptoms Anatomical Abnormality 20 11 0.100 None 0
Abnormality of mitochondrial metabolism
phenotype Finding 21 3 0.100 None 0
CUI: C4021727
Disease: EMG: neuropathic changes
EMG: neuropathic changes
phenotype Finding 28 5 0.100 None 0
Decreased activity of mitochondrial complex I
phenotype Finding 41 3 0.100 None 0
CUI: C3887875
Disease: Visual field defects
Visual field defects
group Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 47 1 0.100 None 0
CUI: C0035021
Disease: Relapsing Fever
Relapsing Fever
disease Infections Disease or Syndrome 48 2 0.100 None 0
CUI: C3714772
Disease: Recurrent fevers
Recurrent fevers
phenotype Sign or Symptom 48 4 0.100 None 0
CUI: C1836450
Disease: Distal lower limb muscle weakness
Distal lower limb muscle weakness
phenotype Finding 49 11 0.100 None 0
CUI: C1855483
Disease: Progressive spastic paraplegia
Progressive spastic paraplegia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 59 1 0.100 None 0
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 75 9 0.100 None 0
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis
phenotype Nutritional and Metabolic Diseases Pathologic Function 85 0.100 None 0
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 86 7 0.100 None 0
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 86 5 0.100 None 0
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy
disease Nervous System Diseases Disease or Syndrome 94 12 0.100 None 0
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples
phenotype Finding 96 19 0.100 None 0
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease Disease or Syndrome 106 7 0.100 None 0
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 123 41 0.010 None 1.000 1 2015 2015