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: C4024993
Disease: Aplasia/Hypoplasia of the clavicles
Aplasia/Hypoplasia of the clavicles 		5 0 3 5.7E-02 0 0
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly 		62 0 6 5.6E-02 0 0
CUI: C4049830
Disease: Focal seizures, afebril
Focal seizures, afebril 		25 0 4 5.6E-02 0 0
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		103 0 8 5.5E-02 0 0
CUI: C1837503
Disease: Small cerebral cortex
Small cerebral cortex 		8 0 3 5.4E-02 0 0
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		69 0 6 5.3E-02 0 0
CUI: C4025279
Disease: Respiratory failure requiring assisted ventilation
Respiratory failure requiring assisted ventilation 		9 0 3 5.3E-02 0 0
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		30 0 4 5.2E-02 0 0
CUI: C1832446
Disease: Sparse eyebrow
Sparse eyebrow 		31 0 4 5.1E-02 0 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 0 13 5.1E-02 0 0
CUI: C1859341
Disease: Olivopontocerebellar hypoplasia
Olivopontocerebellar hypoplasia 		11 0 3 5.1E-02 0 0
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem 		55 0 5 5.0E-02 0 0
CUI: C0598275
Disease: Diffuse cerebral atrophy
Diffuse cerebral atrophy 		34 0 4 4.9E-02 0 0
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly 		13 20 3 4.9E-02 2 4.3E-02
CUI: C1855514
Disease: Severe failure to thrive
Severe failure to thrive 		14 0 3 4.8E-02 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 32 22 4.8E-02 1 1.7E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 20 4.8E-02 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 21 4.8E-02 0 0
CUI: C0020225
Disease: Hydranencephaly
Hydranencephaly 		15 0 3 4.8E-02 0 0
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology 		39 0 4 4.7E-02 0 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 50 8 4.6E-02 3 3.9E-02
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		199 0 11 4.6E-02 0 0
CUI: C4082169
Disease: Metatarsus Varus
Metatarsus Varus 		41 0 4 4.5E-02 0 0
CUI: C0878660
Disease: Proportionate short stature
Proportionate short stature 		19 11 3 4.5E-02 1 2.6E-02
CUI: C1969156
Disease: EEG with burst suppression
EEG with burst suppression 		19 0 3 4.5E-02 0 0