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: C1856408
Disease: Infantile encephalopathy
Infantile encephalopathy 		14 0 1 5.9E-02 0 0
CUI: C1837458
Disease: Impaired smooth pursuit
Impaired smooth pursuit 		25 0 1 3.6E-02 0 0
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem 		55 0 2 3.5E-02 0 0
CUI: C3887612
Disease: Psychomotor Agitation
Psychomotor Agitation 		26 0 1 3.4E-02 0 0
CUI: C1848529
Disease: Hypoplasia of the pons
Hypoplasia of the pons 		30 0 1 3.0E-02 0 0
CUI: C0332878
Disease: Congenital contracture
Congenital contracture 		31 0 1 2.9E-02 0 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		67 0 2 2.9E-02 0 0
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary 		35 0 1 2.6E-02 0 0
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		142 0 3 2.1E-02 0 0
CUI: C2673431
Disease: Abnormality of the periventricular white matter
Abnormality of the periventricular white matter 		45 0 1 2.1E-02 0 0
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		148 0 3 2.0E-02 0 0
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		160 0 3 1.9E-02 0 0
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		51 0 1 1.9E-02 0 0
CUI: C0009024
Disease: Clonus
Clonus 		60 0 1 1.6E-02 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 0 2 1.3E-02 0 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		77 0 1 1.3E-02 0 0
CUI: C0008489
Disease: Chorea
Chorea 		168 0 2 1.2E-02 0 0
CUI: C0002418
Disease: Amblyopia
Amblyopia 		85 29 1 1.1E-02 1 2.6E-02
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 0 1 9.7E-03 0 0
CUI: C0017639
Disease: Gliosis
Gliosis 		102 0 1 9.5E-03 0 0
CUI: C1837142
Disease: Poor suck
Poor suck 		103 0 1 9.4E-03 0 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		226 26 2 8.8E-03 1 2.8E-02
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 0 3 8.3E-03 0 0
CUI: C0162701
Disease: Polysomnography
Polysomnography 		119 0 1 8.2E-03 0 0
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central 		122 0 1 8.0E-03 0 0