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: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 0 1 1.3E-03 0 0
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		130 0 1 1.4E-03 0 0
CUI: C1629609
Disease: Age at menopause
Age at menopause 		129 0 1 1.4E-03 0 0
CUI: C0162701
Disease: Polysomnography
Polysomnography 		119 0 1 1.5E-03 0 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		104 0 1 1.5E-03 0 0
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		102 0 1 1.5E-03 0 0
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		96 0 1 1.5E-03 0 0
CUI: C0239479
Disease: Round face
Round face 		88 0 1 1.5E-03 0 0
CUI: C1837463
Disease: Narrow face
Narrow face 		87 0 1 1.5E-03 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 1 1.5E-03 0 0
CUI: C1853241
Disease: Flat face
Flat face 		83 0 1 1.6E-03 0 0
CUI: C0231835
Disease: Tachypnea
Tachypnea 		82 0 1 1.6E-03 0 0
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		82 0 1 1.6E-03 0 0
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		82 0 1 1.6E-03 0 0
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE 		80 0 1 1.6E-03 0 0
CUI: C0241240
Disease: Tall stature
Tall stature 		79 0 1 1.6E-03 0 0
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		77 0 1 1.6E-03 0 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		76 0 1 1.6E-03 0 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		75 0 1 1.6E-03 0 0
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		75 0 1 1.6E-03 0 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		73 0 1 1.6E-03 0 0
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		71 0 1 1.6E-03 0 0
CUI: C0426415
Disease: Large nose
Large nose 		70 0 1 1.6E-03 0 0
CUI: C0455829
Disease: Waist Circumference
Waist Circumference 		70 0 1 1.6E-03 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 1 1.6E-03 0 0