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: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 1 1.6E-03 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 0 1 1.6E-03 0 0
CUI: C0013132
Disease: Drooling
Drooling 		95 0 1 1.6E-03 0 0
CUI: C1720983
Disease: Channelopathies
Channelopathies 		94 0 1 1.6E-03 0 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		93 0 1 1.6E-03 0 0
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		90 0 1 1.7E-03 0 0
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution 		90 0 1 1.7E-03 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 1 1.7E-03 0 0
CUI: C0426421
Disease: Wide nose
Wide nose 		87 0 1 1.7E-03 0 0
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis 		85 0 1 1.7E-03 0 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		85 0 1 1.7E-03 0 0
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		84 0 1 1.7E-03 0 0
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		82 0 1 1.7E-03 0 0
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		82 0 1 1.7E-03 0 0
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia 		80 0 1 1.7E-03 0 0
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		79 0 1 1.7E-03 0 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		77 0 1 1.7E-03 0 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		76 0 1 1.7E-03 0 0
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		75 0 1 1.7E-03 0 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		73 0 1 1.7E-03 0 0
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		72 0 1 1.7E-03 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 1 1.7E-03 0 0
CUI: C1844383
Disease: Recurrent bacterial infection
Recurrent bacterial infection 		69 0 1 1.7E-03 0 0
CUI: C1261430
Disease: Fasting blood sugar result
Fasting blood sugar result 		65 0 1 1.7E-03 0 0
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		63 0 1 1.7E-03 0 0