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: C0220981
Disease: Metabolic acidosis
Metabolic acidosis
85 0 1 2.7E-03 0 0
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum
84 0 1 2.7E-03 0 0
CUI: C0231835
Disease: Tachypnea
Tachypnea
82 0 1 2.7E-03 0 0
CUI: C0600031
Disease: Congenital absence of spleen
Congenital absence of spleen
80 0 1 2.7E-03 0 0
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism
80 0 1 2.7E-03 0 0
Progressive sensorineural hearing impairment
78 0 1 2.7E-03 0 0
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk
77 0 1 2.7E-03 0 0
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span
77 0 1 2.7E-03 0 0
CUI: C0456132
Disease: Large fontanelle
Large fontanelle
77 0 1 2.7E-03 0 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia
77 0 1 2.7E-03 0 0
CUI: C0024713
Disease: Manic Disorder
Manic Disorder
76 0 1 2.7E-03 0 0
CUI: C0752121
Disease: Spinocerebellar Ataxia Type 2
Spinocerebellar Ataxia Type 2
76 0 1 2.7E-03 0 0
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic
75 0 1 2.7E-03 0 0
QT interval feature (observable entity)
75 0 1 2.7E-03 0 0
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
75 0 1 2.7E-03 0 0
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia
75 0 1 2.7E-03 0 0
CUI: C3554617
Disease: Adducted thumb
Adducted thumb
74 0 1 2.7E-03 0 0
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
73 0 1 2.8E-03 0 0
CUI: C0234119
Disease: Neuromuscular inhibition
Neuromuscular inhibition
72 0 1 2.8E-03 0 0
CUI: C0455829
Disease: Waist Circumference
Waist Circumference
70 0 1 2.8E-03 0 0
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge
69 0 1 2.8E-03 0 0
[D]Sleep disturbances (& [hypersomnia] or [insomnia])
69 0 1 2.8E-03 0 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs
69 0 1 2.8E-03 0 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly
67 0 1 2.8E-03 0 0
CUI: C3496069
Disease: cocaine use
cocaine use
67 0 1 2.8E-03 0 0