Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0042963
Disease: Vomiting
Vomiting
303 0 83 0.22 0 0
CUI: C0009421
Disease: Comatose
Comatose
78 0 42 0.21 0 0
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
102 8 42 0.19 1 7.7E-02
CUI: C1839603
Disease: Proximal tubulopathy
Proximal tubulopathy
37 0 30 0.18 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
209 0 54 0.17 0 0
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate
45 0 30 0.17 0 0
Paroxysmal involuntary eye movements
39 0 29 0.17 0 0
Abnormal mitochondria in muscle tissue
39 0 29 0.17 0 0
Focal T2 hyperintense brainstem lesion
33 0 28 0.17 0 0
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
40 0 28 0.16 0 0
Decreased activity of mitochondrial complex I
41 0 28 0.16 0 0
CUI: C0015930
Disease: Fetal Distress
Fetal Distress
44 0 28 0.16 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate
87 0 32 0.15 0 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact
73 0 30 0.15 0 0
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies
121 0 36 0.15 0 0
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy
189 0 44 0.14 0 0
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis
85 0 30 0.14 0 0
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
420 42 70 0.14 2 4.3E-02
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
51 0 25 0.13 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc
98 0 29 0.13 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
190 0 39 0.13 0 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
457 0 66 0.12 0 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
523 30 73 0.12 1 2.9E-02
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve
112 0 29 0.12 0 0
CUI: C1836038
Disease: Poor head control
Poor head control
162 0 34 0.12 0 0