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: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		1 65 1 5.3E-03 11 6.1E-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: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		1 13 1 5.3E-03 5 3.7E-02
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		53 122 32 0.15 8 3.3E-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: C3281191
Disease: SCN8A-related epilepsy with encephalopathy
SCN8A-related epilepsy with encephalopathy 		2 52 2 1.1E-02 5 2.9E-02
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 154 7.0E-02 18 2.7E-02
CUI: C0037769
Disease: West Syndrome
West Syndrome 		149 28 58 0.21 4 2.7E-02
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		36 9 18 8.8E-02 3 2.3E-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: C0014544
Disease: Epilepsy
Epilepsy 		1215 339 120 9.4E-02 10 2.2E-02
CUI: C1852581
Disease: EPILEPSY, BENIGN NEONATAL, 2
EPILEPSY, BENIGN NEONATAL, 2 		9 20 6 3.2E-02 3 2.1E-02
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		57 43 25 0.11 3 1.8E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 108 0.10 5 1.8E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 24 3.2E-02 3 1.7E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 11 4.9E-02 3 1.7E-02
CUI: C0585544
Disease: Downbeat nystagmus
Downbeat nystagmus 		3 2 1 5.3E-03 2 1.6E-02
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		30 3 24 0.12 2 1.6E-02
CUI: C4082299
Disease: Bulbar palsy
Bulbar palsy 		48 5 4 1.7E-02 2 1.6E-02
CUI: C4310637
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 		2 5 2 1.1E-02 2 1.6E-02
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		1 8 1 5.3E-03 2 1.5E-02
CUI: C4014531
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 		1 9 1 5.3E-03 2 1.5E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 48 0.12 3 1.5E-02
CUI: C4479569
Disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS
NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS 		1 10 1 5.3E-03 2 1.5E-02
CUI: C3809606
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17 		1 13 1 5.3E-03 2 1.5E-02