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: C0424574
Disease: Duration of sleep
Duration of sleep 		104 0 1 1.8E-03 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 0 1 1.8E-03 0 0
CUI: C0424230
Disease: Motor retardation
Motor retardation 		98 0 1 1.8E-03 0 0
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		96 0 1 1.8E-03 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 0 1 1.8E-03 0 0
CUI: C0009398
Disease: Color vision defect
Color vision defect 		94 0 1 1.8E-03 0 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		92 0 1 1.8E-03 0 0
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		89 0 1 1.8E-03 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 1 1.8E-03 0 0
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment 		86 0 1 1.8E-03 0 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		85 0 1 1.9E-03 0 0
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		84 0 1 1.9E-03 0 0
CUI: C1853241
Disease: Flat face
Flat face 		83 0 1 1.9E-03 0 0
CUI: C0231835
Disease: Tachypnea
Tachypnea 		82 0 1 1.9E-03 0 0
CUI: C0040588
Disease: Tracheoesophageal Fistula
Tracheoesophageal Fistula 		80 0 1 1.9E-03 0 0
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia 		78 0 1 1.9E-03 0 0
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk 		77 0 1 1.9E-03 0 0
CUI: C1527344
Disease: Dysphonia
Dysphonia 		77 0 1 1.9E-03 0 0
CUI: C3279947
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 		77 0 1 1.9E-03 0 0
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		75 0 1 1.9E-03 0 0
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		75 0 1 1.9E-03 0 0
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		75 0 1 1.9E-03 0 0
CUI: C3554617
Disease: Adducted thumb
Adducted thumb 		74 0 1 1.9E-03 0 0
CUI: C0455829
Disease: Waist Circumference
Waist Circumference 		70 0 1 1.9E-03 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 1 1.9E-03 0 0