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: C2931426
Disease: Orofaciodigital syndrome type1
Orofaciodigital syndrome type1 		2 0 1 0.33 0 0
CUI: C1836829
Disease: Developmental stagnation at onset of seizures
Developmental stagnation at onset of seizures 		3 0 1 0.25 0 0
CUI: C4023013
Disease: Stereotypical body rocking
Stereotypical body rocking 		3 0 1 0.25 0 0
CUI: C3281034
Disease: Multifocal seizures
Multifocal seizures 		4 0 1 0.20 0 0
CUI: C0752324
Disease: Focal Tonic Seizures
Focal Tonic Seizures 		5 0 1 0.17 0 0
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		5 0 1 0.17 0 0
CUI: C0175713
Disease: Aicardi's syndrome
Aicardi's syndrome 		7 0 1 0.12 0 0
CUI: C0410539
Disease: Craniodiaphyseal dysplasia
Craniodiaphyseal dysplasia 		7 0 1 0.12 0 0
CUI: C4024167
Disease: Abnormality of the antitragus
Abnormality of the antitragus 		7 0 1 0.12 0 0
CUI: C0393698
Disease: Cryptogenic Infantile Spasms
Cryptogenic Infantile Spasms 		8 0 1 0.11 0 0
CUI: C2675746
Disease: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder)
CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder) 		8 0 1 0.11 0 0
CUI: C4021217
Disease: EEG with generalized slow activity
EEG with generalized slow activity 		8 0 1 0.11 0 0
CUI: C4022919
Disease: Appendicular hypotonia
Appendicular hypotonia 		8 0 1 0.11 0 0
CUI: C4023014
Disease: Stereotypical hand wringing
Stereotypical hand wringing 		8 0 1 0.11 0 0
CUI: C2675080
Disease: Li-Fraumeni-Like Syndrome
Li-Fraumeni-Like Syndrome 		10 0 1 9.1E-02 0 0
CUI: C0438414
Disease: Myoclonic Encephalopathy
Myoclonic Encephalopathy 		11 0 1 8.3E-02 0 0
CUI: C0743101
Disease: developmentally delayed
developmentally delayed 		11 0 1 8.3E-02 0 0
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		11 0 1 8.3E-02 0 0
CUI: C0752323
Disease: Focal Clonic Seizures
Focal Clonic Seizures 		12 0 1 7.7E-02 0 0
CUI: C0152439
Disease: Retinoschisis
Retinoschisis 		13 0 1 7.1E-02 0 0
CUI: C0268059
Disease: Neonatal hemochromatosis
Neonatal hemochromatosis 		13 0 1 7.1E-02 0 0
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome 		14 0 1 6.7E-02 0 0
CUI: C4023484
Disease: Uni- and bilateral multifocal epileptiform discharges
Uni- and bilateral multifocal epileptiform discharges 		14 0 1 6.7E-02 0 0
CUI: C4022849
Disease: Absent thumbnail
Absent thumbnail 		15 0 1 6.2E-02 0 0
CUI: C4023528
Disease: Abnormality of skin morphology
Abnormality of skin morphology 		16 0 1 5.9E-02 0 0