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: C0265316
Disease: Neurocutaneous Syndromes
Neurocutaneous Syndromes 		28 0 10 7.4E-02 0 0
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		88 0 14 7.3E-02 0 0
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		17 0 9 7.1E-02 0 0
CUI: C0236018
Disease: Aura
Aura 		83 0 13 6.9E-02 0 0
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		83 0 13 6.9E-02 0 0
CUI: C4023683
Disease: EEG with spike-wave complexes
EEG with spike-wave complexes 		23 0 9 6.8E-02 0 0
CUI: C0037769
Disease: West Syndrome
West Syndrome 		149 0 17 6.8E-02 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 74 6.7E-02 0 0
CUI: C0206716
Disease: Ganglioglioma
Ganglioglioma 		91 0 13 6.6E-02 0 0
CUI: C0149958
Disease: Complex partial seizures
Complex partial seizures 		140 0 16 6.6E-02 0 0
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum 		11 0 8 6.6E-02 0 0
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		46 0 10 6.5E-02 0 0
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		14 0 8 6.5E-02 0 0
CUI: C1867864
Disease: Poor fine motor coordination
Poor fine motor coordination 		31 0 9 6.4E-02 0 0
CUI: C3888788
Disease: Minimal hepatic encephalopathy
Minimal hepatic encephalopathy 		31 0 9 6.4E-02 0 0
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome 		17 0 8 6.3E-02 0 0
CUI: C1562113
Disease: Fleck corneal dystrophy
Fleck corneal dystrophy 		104 0 13 6.2E-02 0 0
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		192 0 18 6.2E-02 0 0
CUI: C0346326
Disease: Optic Nerve Glioma
Optic Nerve Glioma 		22 0 8 6.1E-02 0 0
CUI: C0150080
Disease: Social Communication Disorder
Social Communication Disorder 		40 0 9 6.0E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 61 6.0E-02 1 5.9E-03
CUI: C0877017
Disease: Generalized tonic-clonic seizures with focal onset
Generalized tonic-clonic seizures with focal onset 		23 0 8 6.0E-02 0 0
CUI: C0026552
Disease: Morphine Dependence
Morphine Dependence 		44 0 9 5.9E-02 0 0
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		45 0 9 5.8E-02 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 27 19 5.8E-02 1 3.1E-02