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: C0240543
Disease: Bulbous nose
Bulbous nose 		123 0 1 2.7E-03 0 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		122 0 1 2.7E-03 0 0
CUI: C0236736
Disease: Cocaine-Related Disorders
Cocaine-Related Disorders 		121 0 1 2.7E-03 0 0
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		121 0 1 2.7E-03 0 0
CUI: C0162701
Disease: Polysomnography
Polysomnography 		119 249 1 2.8E-03 1 3.0E-03
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		117 0 1 2.8E-03 0 0
CUI: C0576226
Disease: Short foot
Short foot 		116 0 1 2.8E-03 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 1 2.8E-03 0 0
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		112 0 1 2.8E-03 0 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 0 1 2.8E-03 0 0
CUI: C0431447
Disease: Synophrys
Synophrys 		111 0 1 2.8E-03 0 0
CUI: C1843108
Disease: Short palm
Short palm 		110 0 1 2.8E-03 0 0
CUI: C0575802
Disease: Small hand
Small hand 		108 0 1 2.8E-03 0 0
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		104 0 1 2.9E-03 0 0
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		104 0 1 2.9E-03 0 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		104 0 1 2.9E-03 0 0
CUI: C1837142
Disease: Poor suck
Poor suck 		103 0 1 2.9E-03 0 0
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		100 0 1 2.9E-03 0 0
CUI: C0424230
Disease: Motor retardation
Motor retardation 		98 0 1 2.9E-03 0 0
CUI: C0009398
Disease: Color vision defect
Color vision defect 		94 0 1 3.0E-03 0 0
CUI: C0023015
Disease: Language Disorders
Language Disorders 		94 0 1 3.0E-03 0 0
CUI: C0850703
Disease: Frequent falls
Frequent falls 		94 0 1 3.0E-03 0 0
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		93 0 1 3.0E-03 0 0
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		91 0 1 3.0E-03 0 0
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution 		90 0 1 3.0E-03 0 0