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: C4748790
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 		disease Disease or Syndrome 2 4 0.600 strong 1.000 2 4 2009 2017
CUI: C4022762
Disease: Elevated brain lactate level by MRS
Elevated brain lactate level by MRS 		phenotype Finding 7 2 0.100 None 0
CUI: C2750913
Disease: Neuronal loss in basal ganglia
Neuronal loss in basal ganglia 		phenotype Finding 8 0.100 None 0
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology 		phenotype Anatomical Abnormality 9 1 0.100 None 0
CUI: C1851959
Disease: Fluctuations in consciousness
Fluctuations in consciousness 		phenotype Finding 10 0.100 None 0
CUI: C2750915
Disease: Basal ganglia gliosis
Basal ganglia gliosis 		phenotype Pathological Conditions, Signs and Symptoms Finding 10 0.100 None 0
CUI: C4021243
Disease: Abnormality of thalamus morphology
Abnormality of thalamus morphology 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C4025706
Disease: Abnormal globus pallidus morphology
Abnormal globus pallidus morphology 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C1858427
Disease: Limited extraocular movements
Limited extraocular movements 		phenotype Finding 11 1 0.100 None 0
CUI: C4025701
Disease: Abnormality of the cerebral cortex
Abnormality of the cerebral cortex 		disease Anatomical Abnormality 11 8 0.100 None 0
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 16 1 0.100 None 0
CUI: C0234649
Disease: Abnormal saccadic eye movement
Abnormal saccadic eye movement 		disease Anatomical Abnormality 17 1 0.100 None 0
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality 		phenotype Finding 18 0.100 None 0
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology 		phenotype Finding 21 2 0.100 None 0
CUI: C4022748
Disease: Focal T2 hyperintense brainstem lesion
Focal T2 hyperintense brainstem lesion 		phenotype Finding 33 2 0.100 None 0
CUI: C4024923
Disease: Diffuse white matter abnormalities
Diffuse white matter abnormalities 		disease Pathological Conditions, Signs and Symptoms Anatomical Abnormality 34 4 0.100 None 0
CUI: C1839603
Disease: Proximal tubulopathy
Proximal tubulopathy 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 37 0.100 None 0
CUI: C1847515
Disease: Paroxysmal involuntary eye movements
Paroxysmal involuntary eye movements 		phenotype Finding 39 2 0.100 None 0
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		disease Anatomical Abnormality 39 2 0.100 None 0
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease Nutritional and Metabolic Diseases Disease or Syndrome 40 31 0.500 None 1.000 3 2009 2016
CUI: C0241816
Disease: Global brain atrophy
Global brain atrophy 		phenotype Pathologic Function 41 6 0.100 None 0
CUI: C2677650
Disease: Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I 		phenotype Finding 41 3 0.100 None 0
CUI: C0015930
Disease: Fetal Distress
Fetal Distress 		disease Pathological Conditions, Signs and Symptoms Pathologic Function 44 1 0.100 None 0
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate 		phenotype Finding 45 1 0.100 None 0
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis 		phenotype Eye Diseases Finding 50 14 0.100 None 0