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: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 0 15 7.5E-02 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 22 7.4E-02 1 1.3E-02
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		75 0 11 7.3E-02 0 0
CUI: C0034735
Disease: Raynaud Phenomenon
Raynaud Phenomenon 		63 0 10 7.2E-02 0 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 0 27 7.1E-02 0 0
CUI: C1096249
Disease: Calcification of the aorta
Calcification of the aorta 		21 0 7 7.0E-02 0 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		67 0 10 7.0E-02 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		190 0 18 7.0E-02 0 0
CUI: C0030326
Disease: Panniculitis
Panniculitis 		37 0 8 7.0E-02 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 0 34 6.7E-02 0 0
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign 		155 0 15 6.6E-02 0 0
CUI: C0521573
Disease: Coloboma of eyelid
Coloboma of eyelid 		28 0 7 6.5E-02 0 0
CUI: C4082172
Disease: Porencephalic cyst
Porencephalic cyst 		28 0 7 6.5E-02 0 0
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		210 32 18 6.5E-02 1 2.6E-02
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		95 0 11 6.5E-02 0 0
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		30 0 7 6.4E-02 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 0 25 6.3E-02 0 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		217 0 18 6.3E-02 0 0
CUI: C0151818
Disease: Opisthotonus
Opisthotonus 		32 0 7 6.3E-02 0 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		218 11 18 6.3E-02 1 5.9E-02
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 0 32 6.3E-02 0 0
CUI: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis 		50 0 8 6.2E-02 0 0
CUI: C1845251
Disease: Facial hypotonia
Facial hypotonia 		33 0 7 6.2E-02 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 30 6.2E-02 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 29 6.2E-02 0 0