Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Abnormality of the subarachnoid space
3 4 3 0.14 4 0.15
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve
18 11 4 0.11 5 0.15
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly
13 20 3 9.4E-02 4 9.3E-02
CUI: C1861239
Disease: Plantar flexion contractures
Plantar flexion contractures
2 0 2 9.1E-02 0 0
CUI: C4021755
Disease: Abnormality of midbrain morphology
Abnormality of midbrain morphology
2 1 2 9.1E-02 1 3.7E-02
CUI: C0085639
Disease: Falls
Falls
3 3 2 8.7E-02 1 3.4E-02
CUI: C0231255
Disease: Decreased body mass index
Decreased body mass index
3 3 2 8.7E-02 3 0.11
CUI: C3532947
Disease: Severe receptive language delay
Severe receptive language delay
4 4 2 8.3E-02 2 6.9E-02
Abnormality of the cerebral ventricles
4 5 2 8.3E-02 3 0.10
CUI: C0558844
Disease: Knee reflex absent
Knee reflex absent
5 0 2 8.0E-02 0 0
Partial or complete agenesis of corpus callosum
5 6 2 8.0E-02 1 3.1E-02
CUI: C1859212
Disease: Limited neck range of motion
Limited neck range of motion
5 2 2 8.0E-02 2 7.4E-02
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome
20 0 3 7.7E-02 0 0
CUI: C1856202
Disease: U-Shaped upper lip vermilion
U-Shaped upper lip vermilion
6 2 2 7.7E-02 1 3.6E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
160 246 13 7.7E-02 17 6.6E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
166 122 13 7.4E-02 15 0.11
CUI: C0018672
Disease: Head Banging
Head Banging
7 3 2 7.4E-02 2 7.1E-02
CUI: C0205766
Disease: Myxofibroma
Myxofibroma
7 0 2 7.4E-02 0 0
CUI: C0238397
Disease: Pulmonary artery stenosis
Pulmonary artery stenosis
36 2 4 7.4E-02 1 3.6E-02
CUI: C1857126
Disease: Parietal bossing
Parietal bossing
7 0 2 7.4E-02 0 0
CUI: C4476822
Disease: Hypoplastic hippocampus
Hypoplastic hippocampus
7 0 2 7.4E-02 0 0
Congenital malformation syndromes associated with short stature
9 0 2 6.9E-02 0 0
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1
9 25 2 6.9E-02 1 2.0E-02
CUI: C1847524
Disease: Hyperopic astigmatism
Hyperopic astigmatism
9 5 2 6.9E-02 2 6.7E-02
CUI: C1867114
Disease: Craniofacial disproportion
Craniofacial disproportion
9 5 2 6.9E-02 3 0.10