Source: ALL
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: C0023380
Disease: Lethargy
Lethargy 		160 0 30 0.14 0 0
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		102 0 20 0.12 0 0
CUI: C0009421
Disease: Comatose
Comatose 		78 0 16 0.11 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 24 0.10 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 0 27 0.10 0 0
CUI: C0162275
Disease: Ketonuria
Ketonuria 		26 0 9 8.8E-02 0 0
CUI: C0042963
Disease: Vomiting
Vomiting 		303 0 30 8.4E-02 0 0
CUI: C0020461
Disease: Hyperkalemia
Hyperkalemia 		32 0 9 8.3E-02 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 12 7.5E-02 0 0
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate 		45 0 9 7.4E-02 0 0
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		420 0 34 7.2E-02 0 0
CUI: C0342776
Disease: Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency 		51 0 9 7.1E-02 0 0
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		189 0 17 6.6E-02 0 0
CUI: C1449842
Disease: Pseudohypoaldosteronism, Type I, Autosomal Dominant
Pseudohypoaldosteronism, Type I, Autosomal Dominant 		13 0 6 6.5E-02 0 0
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		144 0 14 6.5E-02 0 0
CUI: C0022638
Disease: Ketosis
Ketosis 		119 0 12 6.2E-02 0 0
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism 		119 0 12 6.2E-02 0 0
CUI: C0033805
Disease: Pseudohypoaldosteronism
Pseudohypoaldosteronism 		19 0 6 6.1E-02 0 0
CUI: C1839603
Disease: Proximal tubulopathy
Proximal tubulopathy 		37 0 7 6.1E-02 0 0
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		40 0 7 5.9E-02 0 0
CUI: C2677650
Disease: Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I 		41 0 7 5.9E-02 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 0 20 5.7E-02 0 0
CUI: C0231835
Disease: Tachypnea
Tachypnea 		82 0 9 5.7E-02 0 0
CUI: C1449844
Disease: Pseudohypoaldosteronism, Type II
Pseudohypoaldosteronism, Type II 		27 0 6 5.7E-02 0 0
CUI: C0011175
Disease: Dehydration
Dehydration 		295 0 20 5.6E-02 0 0