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: C0262665
Disease: Abnormal vocal cord morphology
Abnormal vocal cord morphology 		1 2 1 3.2E-02 2 0.29
CUI: C3887784
Disease: Decreased urine output
Decreased urine output 		1 2 1 3.2E-02 2 0.29
CUI: C4021216
Disease: EEG with persistent abnormal rhythmic activity
EEG with persistent abnormal rhythmic activity 		2 2 1 3.1E-02 2 0.29
CUI: C1855330
Disease: Cerebral hypoplasia
Cerebral hypoplasia 		9 4 1 2.6E-02 2 0.22
CUI: C3808249
Disease: Abnormality of the optic disc
Abnormality of the optic disc 		26 4 1 1.8E-02 2 0.22
CUI: C0151891
Disease: Retinal depigmentation
Retinal depigmentation 		19 5 1 2.0E-02 2 0.20
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination 		29 6 1 1.7E-02 2 0.18
CUI: C0020458
Disease: Hyperhidrosis disorder
Hyperhidrosis disorder 		114 7 2 1.4E-02 2 0.17
CUI: C0232462
Disease: Decrease in appetite
Decrease in appetite 		62 7 2 2.2E-02 2 0.17
CUI: C3808046
Disease: Breathing dysregulation
Breathing dysregulation 		12 8 2 4.9E-02 2 0.15
CUI: C4025701
Disease: Abnormality of the cerebral cortex
Abnormality of the cerebral cortex 		11 8 2 5.0E-02 2 0.15
CUI: C0233283
Disease: Complete breech presentation
Complete breech presentation 		1 1 1 3.2E-02 1 0.14
CUI: C0239815
Disease: Hand clenching
Hand clenching 		26 9 1 1.8E-02 2 0.14
CUI: C0266121
Disease: Congenital absence of uvula
Congenital absence of uvula 		4 1 1 2.9E-02 1 0.14
CUI: C0549400
Disease: Low APGAR score
Low APGAR score 		2 1 1 3.1E-02 1 0.14
CUI: C1142132
Disease: Carnitine deficiency
Carnitine deficiency 		15 1 1 2.2E-02 1 0.14
CUI: C1836791
Disease: Tortuous cerebral arteries
Tortuous cerebral arteries 		2 1 1 3.1E-02 1 0.14
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		75 9 4 3.9E-02 2 0.14
CUI: C1844946
Disease: Episodic hypoventilation
Episodic hypoventilation 		1 1 1 3.2E-02 1 0.14
CUI: C1866180
Disease: Horizontal pendular nystagmus
Horizontal pendular nystagmus 		7 1 1 2.7E-02 1 0.14
CUI: C3151140
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2D
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D 		7 9 1 2.7E-02 2 0.14
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		147 10 1 5.6E-03 2 0.13
CUI: C4023523
Disease: Bilateral fetal pyelectasis
Bilateral fetal pyelectasis 		2 2 1 3.1E-02 1 0.12
CUI: C1836038
Disease: Poor head control
Poor head control 		162 13 12 6.6E-02 2 0.11
CUI: C3810018
Disease: Bilateral coxa valga
Bilateral coxa valga 		7 3 1 2.7E-02 1 0.11