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: C1855677
Disease: Brainstem dysplasia
Brainstem dysplasia
5 2 1 0.20 2 1.00
CUI: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch
13 0 1 7.7E-02 0 0
CUI: C4021758
Disease: Delayed CNS myelination
Delayed CNS myelination
21 0 1 4.8E-02 0 0
CUI: C0239815
Disease: Hand clenching
Hand clenching
26 0 1 3.8E-02 0 0
CUI: C1846176
Disease: Hyperactive deep tendon reflexes
Hyperactive deep tendon reflexes
32 0 1 3.1E-02 0 0
CUI: C1857949
Disease: Prominent metopic ridge
Prominent metopic ridge
39 0 1 2.6E-02 0 0
CUI: C0241816
Disease: Global brain atrophy
Global brain atrophy
41 0 1 2.4E-02 0 0
CUI: C1853737
Disease: Prominent occiput
Prominent occiput
53 0 1 1.9E-02 0 0
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel
71 0 1 1.4E-02 0 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact
73 0 1 1.4E-02 0 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
85 0 1 1.2E-02 0 0
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip
105 0 1 9.5E-03 0 0
CUI: C1839758
Disease: Narrow forehead
Narrow forehead
106 0 1 9.4E-03 0 0
Aplasia/Hypoplasia of the corpus callosum
108 0 1 9.3E-03 0 0
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
129 0 1 7.8E-03 0 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome
137 0 1 7.3E-03 0 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion
145 0 1 6.9E-03 0 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk
156 0 1 6.4E-03 0 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
159 0 1 6.3E-03 0 0
Flexion contracture of proximal interphalangeal joint
168 0 1 6.0E-03 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear
176 0 1 5.7E-03 0 0
Abnormality of cardiovascular system morphology
198 13 1 5.1E-03 2 0.15
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios
208 0 1 4.8E-03 0 0
CUI: C0456070
Disease: Growth delay
Growth delay
244 0 1 4.1E-03 0 0
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
255 0 1 3.9E-03 0 0