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: C0271616
Disease: Precocious female puberty
Precocious female puberty 		1 0 1 0.50 0 0
CUI: C3280415
Disease: COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA
COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA 		1 4 1 0.50 2 0.25
CUI: C3281191
Disease: SCN8A-related epilepsy with encephalopathy
SCN8A-related epilepsy with encephalopathy 		2 52 1 0.33 4 7.4E-02
CUI: C4023491
Disease: Interictal epileptiform activity
Interictal epileptiform activity 		2 0 1 0.33 0 0
CUI: C0037140
Disease: B Virus Infection
B Virus Infection 		3 0 1 0.25 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: C4692845
Disease: BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO
BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO 		3 0 1 0.25 0 0
CUI: C0234357
Disease: Adiadochokinesis
Adiadochokinesis 		4 0 1 0.20 0 0
CUI: C0750994
Disease: Cerebellar Hemiataxia
Cerebellar Hemiataxia 		4 0 1 0.20 0 0
CUI: C1843146
Disease: Normal interictal EEG
Normal interictal EEG 		4 0 1 0.20 0 0
CUI: C1865926
Disease: Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) 		4 0 1 0.20 0 0
CUI: C3668822
Disease: Hypermetria (finding)
Hypermetria (finding) 		4 0 1 0.20 0 0
CUI: C3494976
Disease: Migrating partial seizures in infancy
Migrating partial seizures in infancy 		11 0 2 0.18 0 0
CUI: C0403654
Disease: Bladder outflow obstruction
Bladder outflow obstruction 		5 0 1 0.17 0 0
CUI: C1849683
Disease: No social interaction
No social interaction 		5 0 1 0.17 0 0
CUI: C1851936
Disease: Paroxysmal choreoathetosis
Paroxysmal choreoathetosis 		5 0 1 0.17 0 0
CUI: C2697788
Disease: Interleukin 8 Measurement
Interleukin 8 Measurement 		5 0 1 0.17 0 0
CUI: C0270851
Disease: Benign neonatal epilepsy
Benign neonatal epilepsy 		6 0 1 0.14 0 0
CUI: C1857483
Disease: Decreased palmar creases
Decreased palmar creases 		6 0 1 0.14 0 0
CUI: C4022919
Disease: Appendicular hypotonia
Appendicular hypotonia 		8 0 1 0.11 0 0
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy 		19 0 2 0.11 0 0
CUI: C0040827
Disease: Saturnine Tremor
Saturnine Tremor 		9 0 1 1.0E-01 0 0
CUI: C0149840
Disease: Senile Tremor
Senile Tremor 		9 0 1 1.0E-01 0 0
CUI: C0234370
Disease: Persistent Tremor
Persistent Tremor 		9 0 1 1.0E-01 0 0
CUI: C0234371
Disease: Continuous Tremor
Continuous Tremor 		9 0 1 1.0E-01 0 0