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: C4024167
Disease: Abnormality of the antitragus
Abnormality of the antitragus 		7 0 6 0.50 0 0
CUI: C0006325
Disease: Bruxism
Bruxism 		24 0 5 0.17 0 0
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		5 0 2 0.14 0 0
CUI: C4023484
Disease: Uni- and bilateral multifocal epileptiform discharges
Uni- and bilateral multifocal epileptiform discharges 		14 0 3 0.14 0 0
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		40 0 6 0.13 0 0
CUI: C4022849
Disease: Absent thumbnail
Absent thumbnail 		15 0 3 0.13 0 0
CUI: C0018672
Disease: Head Banging
Head Banging 		7 0 2 0.12 0 0
CUI: C0175713
Disease: Aicardi's syndrome
Aicardi's syndrome 		7 0 2 0.12 0 0
CUI: C1844906
Disease: Broad finger
Broad finger 		17 0 3 0.12 0 0
CUI: C4023986
Disease: Broad phalanx of the toes
Broad phalanx of the toes 		17 0 3 0.12 0 0
CUI: C4021217
Disease: EEG with generalized slow activity
EEG with generalized slow activity 		8 0 2 0.12 0 0
CUI: C4022919
Disease: Appendicular hypotonia
Appendicular hypotonia 		8 0 2 0.12 0 0
CUI: C4023014
Disease: Stereotypical hand wringing
Stereotypical hand wringing 		8 0 2 0.12 0 0
CUI: C4023499
Disease: Generalized clonic seizures
Generalized clonic seizures 		18 0 3 0.12 0 0
CUI: C0271386
Disease: Vertical Nystagmus
Vertical Nystagmus 		9 0 2 0.11 0 0
CUI: C1969156
Disease: EEG with burst suppression
EEG with burst suppression 		19 0 3 0.11 0 0
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME 		9 0 2 0.11 0 0
CUI: C0438414
Disease: Myoclonic Encephalopathy
Myoclonic Encephalopathy 		11 0 2 1.0E-01 0 0
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		11 0 2 1.0E-01 0 0
CUI: C0598275
Disease: Diffuse cerebral atrophy
Diffuse cerebral atrophy 		34 0 4 9.8E-02 0 0
CUI: C4023683
Disease: EEG with spike-wave complexes
EEG with spike-wave complexes 		23 0 3 9.7E-02 0 0
CUI: C0752323
Disease: Focal Clonic Seizures
Focal Clonic Seizures 		12 0 2 9.5E-02 0 0
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		36 0 4 9.3E-02 0 0
CUI: C0020039
Disease: Hostility
Hostility 		1 0 1 9.1E-02 0 0
CUI: C0021712
Disease: Myoclonus, Intention
Myoclonus, Intention 		1 0 1 9.1E-02 0 0