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: C0036572
Disease: Seizures
Seizures 		2152 553 154 7.0E-02 18 2.7E-02
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		1 65 1 5.3E-03 11 6.1E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 339 120 9.4E-02 10 2.2E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 149 8.0E-02 8 1.2E-02
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 		1 91 1 5.3E-03 8 3.8E-02
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		53 122 32 0.15 8 3.3E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 27 7.3E-02 7 1.3E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 108 0.10 5 1.8E-02
CUI: C3281191
Disease: SCN8A-related epilepsy with encephalopathy
SCN8A-related epilepsy with encephalopathy 		2 52 2 1.1E-02 5 2.9E-02
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		1 13 1 5.3E-03 5 3.7E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 60 5.5E-02 4 5.7E-03
CUI: C0037769
Disease: West Syndrome
West Syndrome 		149 28 58 0.21 4 2.7E-02
CUI: C0393706
Disease: Early infantile epileptic encephalopathy with suppression bursts
Early infantile epileptic encephalopathy with suppression bursts 		81 10 18 7.2E-02 4 3.0E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 18 5.5E-02 4 1.1E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 395 80 6.6E-02 3 5.8E-03
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 24 3.2E-02 3 1.7E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 94 32 7.9E-02 3 1.4E-02
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		1263 112 58 4.2E-02 3 1.3E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 48 0.12 3 1.5E-02
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		36 9 18 8.8E-02 3 2.3E-02
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		57 43 25 0.11 3 1.8E-02
CUI: C1852581
Disease: EPILEPSY, BENIGN NEONATAL, 2
EPILEPSY, BENIGN NEONATAL, 2 		9 20 6 3.2E-02 3 2.1E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 135 6.1E-02 3 1.1E-02
CUI: C3810400
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19 		1 9 1 5.3E-03 3 2.3E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 11 4.9E-02 3 1.7E-02