ND2, MTND2, 4536

N. diseases: 130; N. variants: 69
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: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 100 46 0.600 None 1.000 2 13 1991 1992
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease Nutritional and Metabolic Diseases Disease or Syndrome 40 31 0.400 None 1.000 2 2 2002 2005
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 12 1 0.300 None 1.000 2 2006 2007
CUI: C1838990
Disease: ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL
ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL 		disease Finding 2 1 0.300 None 1.000 1 1 1992 1992
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 144 114 0.110 None 1.000 1 8 2007 2007
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		group Nervous System Diseases Disease or Syndrome 549 69 0.110 None 1.000 1 2008 2008
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype Finding 87 1 0.100 None 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		phenotype Mental Disorders Finding 73 6 0.100 None 0
CUI: C1557375
Disease: Blurred Vision, CTCAE
Blurred Vision, CTCAE 		phenotype Finding 26 0.100 None 0
CUI: C1836038
Disease: Poor head control
Poor head control 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 162 13 0.100 None 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		phenotype Nutritional and Metabolic Diseases Finding 169 2 0.100 None 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease Mental Disorders Disease or Syndrome 333 80 0.100 None 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype Finding 130 50 0.100 None 0
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 40 8 0.100 None 0 1
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		disease Disease or Syndrome 93 21 0.100 None 0
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		group Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 121 19 0.100 None 0 5
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 17 0.100 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 473 62 0.100 None 0
CUI: C0234378
Disease: Static Tremor
Static Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 62 3 0.100 None 0
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 61 4 0.100 None 0
CUI: C0268630
Disease: Hyper-beta-alaninemia
Hyper-beta-alaninemia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome 33 0.100 None 0
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		group Nervous System Diseases Disease or Syndrome 189 17 0.100 None 0
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: C0271196
Disease: Scotoma, Centrocecal
Scotoma, Centrocecal 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 12 0.100 None 0
CUI: C0344232
Disease: Blurred vision
Blurred vision 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 28 2 0.100 None 0