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: C4540031
Disease: Combined oxidative phosphorylation deficiency
Combined oxidative phosphorylation deficiency 		4 0 1 0.25 0 0
CUI: C0949856
Disease: Oxidative Phosphorylation Deficiencies
Oxidative Phosphorylation Deficiencies 		18 0 1 5.6E-02 0 0
CUI: C0949857
Disease: Mitochondrial Respiratory Chain Deficiencies
Mitochondrial Respiratory Chain Deficiencies 		49 0 1 2.0E-02 0 0
CUI: C0342776
Disease: Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency 		51 0 1 2.0E-02 0 0
CUI: C3887638
Disease: Failure to thrive in infant
Failure to thrive in infant 		81 0 1 1.2E-02 0 0
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis 		85 0 1 1.2E-02 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 0 1 9.6E-03 0 0
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		144 0 1 6.9E-03 0 0
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		156 0 1 6.4E-03 0 0
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 0 1 6.0E-03 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 1 5.9E-03 0 0
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		181 0 1 5.5E-03 0 0
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 1 4.8E-03 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 0 1 4.8E-03 0 0
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		233 0 1 4.3E-03 0 0
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		233 0 1 4.3E-03 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 0 1 3.5E-03 0 0
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		420 0 1 2.4E-03 0 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		441 0 1 2.3E-03 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 1 2.1E-03 0 0
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		559 0 1 1.8E-03 0 0
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		560 0 1 1.8E-03 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 1 1.8E-03 0 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 0 1 1.4E-03 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 1 1.2E-03 0 0