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: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 50 8.7E-02 0 0
CUI: C0008489
Disease: Chorea
Chorea 		168 20 25 8.6E-02 1 2.1E-02
CUI: C0393706
Disease: Early infantile epileptic encephalopathy with suppression bursts
Early infantile epileptic encephalopathy with suppression bursts 		81 10 18 8.5E-02 3 8.6E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 0 57 8.5E-02 0 0
CUI: C0149958
Disease: Complex partial seizures
Complex partial seizures 		140 5 22 8.2E-02 1 3.1E-02
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 21 8.2E-02 0 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 0 21 8.1E-02 0 0
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		584 0 55 8.1E-02 0 0
CUI: C3536714
Disease: Renal dysplasia
Renal dysplasia 		95 0 18 8.0E-02 0 0
CUI: C4317123
Disease: Myoclonic Seizures
Myoclonic Seizures 		123 0 20 7.9E-02 0 0
CUI: C4531122
Disease: Abnormal speech prosody
Abnormal speech prosody 		15 0 12 7.9E-02 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 43 7.9E-02 1 1.6E-03
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		57 43 15 7.9E-02 1 1.4E-02
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		71 9 16 7.8E-02 1 2.8E-02
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		184 35 24 7.8E-02 1 1.6E-02
CUI: C1955869
Disease: Malformations of Cortical Development
Malformations of Cortical Development 		60 0 15 7.7E-02 0 0
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		63 0 15 7.6E-02 0 0
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		93 0 17 7.6E-02 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 0 28 7.5E-02 0 0
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		311 0 32 7.5E-02 0 0
CUI: C0235831
Disease: Renal Cell Dysplasia
Renal Cell Dysplasia 		81 0 16 7.5E-02 0 0
CUI: C0239676
Disease: High forehead
High forehead 		211 0 25 7.5E-02 0 0
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		271 13 29 7.4E-02 1 2.5E-02
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 0 18 7.4E-02 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 68 7.4E-02 0 0