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: C3671015
Disease: Myofiber disarray
Myofiber disarray 		2 0 1 0.50 0 0
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		144 0 1 6.9E-03 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 1 5.9E-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: C1861403
Disease: Variable expressivity
Variable expressivity 		319 0 1 3.1E-03 0 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 0 1 2.2E-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: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		925 0 1 1.1E-03 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 1 1.0E-03 0 0
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		1037 0 1 9.6E-04 0 0
CUI: C0018801
Disease: Heart failure
Heart failure 		1499 0 1 6.7E-04 0 0
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		1760 0 1 5.7E-04 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 0 1 5.5E-04 0 0