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: C0031190
Disease: Persistent Fetal Circulation Syndrome
Persistent Fetal Circulation Syndrome 		14 0 1 7.1E-02 0 0
CUI: C0085543
Disease: Epilepsia Partialis Continua
Epilepsia Partialis Continua 		15 0 1 6.7E-02 0 0
CUI: C1854919
Disease: Severe psychomotor retardation
Severe psychomotor retardation 		22 0 1 4.5E-02 0 0
CUI: C3532239
Disease: Mitochondrial cardiomyopathy
Mitochondrial cardiomyopathy 		23 0 1 4.3E-02 0 0
CUI: C0022541
Disease: Kearns-Sayre syndrome
Kearns-Sayre syndrome 		29 0 1 3.4E-02 0 0
CUI: C1852373
Disease: Mitochondrial encephalopathy
Mitochondrial encephalopathy 		32 0 1 3.1E-02 0 0
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		53 0 1 1.9E-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: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 0 1 6.0E-03 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 0 1 5.3E-03 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 0 1 4.8E-03 0 0
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		233 0 1 4.3E-03 0 0
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		264 0 1 3.8E-03 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 0 1 3.5E-03 0 0
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		305 0 1 3.3E-03 0 0
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		336 0 1 3.0E-03 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 247 1 2.8E-03 2 8.0E-03
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 1 2.6E-03 0 0
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block 		403 0 1 2.5E-03 0 0
CUI: C0524909
Disease: Hepatitis B, Chronic
Hepatitis B, Chronic 		415 0 1 2.4E-03 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 1 2.3E-03 1 1.6E-03
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 0 1 2.2E-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: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		670 0 1 1.5E-03 0 0