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: C0495706
Disease: elevated blood glucose level
elevated blood glucose level
89 0 1 2.4E-03 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate
87 0 1 2.4E-03 0 0
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia
86 0 1 2.4E-03 0 0
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
86 0 1 2.4E-03 0 0
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
86 0 1 2.4E-03 0 0
CUI: C0002418
Disease: Amblyopia
Amblyopia
85 0 1 2.4E-03 0 0
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
85 0 1 2.4E-03 0 0
Respiratory insufficiency due to muscle weakness
85 0 1 2.4E-03 0 0
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE
80 0 1 2.4E-03 0 0
CUI: C0015310
Disease: Exotropia
Exotropia
78 0 1 2.5E-03 0 0
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk
77 0 1 2.5E-03 0 0
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span
77 0 1 2.5E-03 0 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance
76 0 1 2.5E-03 0 0
CUI: C2674432
Disease: Reduced bone mineral density
Reduced bone mineral density
76 0 1 2.5E-03 0 0
CUI: C0202202
Disease: Protein measurement
Protein measurement
75 0 1 2.5E-03 0 0
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia
75 0 1 2.5E-03 0 0
CUI: C1518922
Disease: peak expiratory flow (procedure)
peak expiratory flow (procedure)
74 0 1 2.5E-03 0 0
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
73 0 1 2.5E-03 0 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact
73 0 1 2.5E-03 0 0
CUI: C0521620
Disease: Dilatation of ureter
Dilatation of ureter
72 0 1 2.5E-03 0 0
CUI: C0426415
Disease: Large nose
Large nose
70 0 1 2.5E-03 0 0
CUI: C0455829
Disease: Waist Circumference
Waist Circumference
70 0 1 2.5E-03 0 0
CUI: C0542514
Disease: Blue sclera
Blue sclera
70 0 1 2.5E-03 0 0
CUI: C0426848
Disease: Sacral dimple
Sacral dimple
69 0 1 2.5E-03 0 0
[D]Sleep disturbances (& [hypersomnia] or [insomnia])
69 0 1 2.5E-03 0 0