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: C0750994
Disease: Cerebellar Hemiataxia
Cerebellar Hemiataxia 		4 0 4 1.00 0 0
CUI: C3668822
Disease: Hypermetria (finding)
Hypermetria (finding) 		4 0 4 1.00 0 0
CUI: C0271616
Disease: Precocious female puberty
Precocious female puberty 		1 0 1 0.25 0 0
CUI: C3280415
Disease: COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA
COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA 		1 0 1 0.25 0 0
CUI: C4225355
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 		1 0 1 0.25 0 0
CUI: C4285893
Disease: Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome 		1 0 1 0.25 0 0
CUI: C1837541
Disease: SPINOCEREBELLAR ATAXIA 20
SPINOCEREBELLAR ATAXIA 20 		2 0 1 0.20 0 0
CUI: C3281191
Disease: SCN8A-related epilepsy with encephalopathy
SCN8A-related epilepsy with encephalopathy 		2 0 1 0.20 0 0
CUI: C3281223
Disease: CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME
CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME 		2 0 1 0.20 0 0
CUI: C4023491
Disease: Interictal epileptiform activity
Interictal epileptiform activity 		2 0 1 0.20 0 0
CUI: C4310728
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5
SEIZURES, BENIGN FAMILIAL INFANTILE, 5 		2 0 1 0.20 0 0
CUI: C4552483
Disease: ABSSSI
ABSSSI 		2 0 1 0.20 0 0
CUI: C0037140
Disease: B Virus Infection
B Virus Infection 		3 0 1 0.17 0 0
CUI: C1836829
Disease: Developmental stagnation at onset of seizures
Developmental stagnation at onset of seizures 		3 0 1 0.17 0 0
CUI: C4049573
Disease: Thrombotic vascular disease
Thrombotic vascular disease 		3 0 1 0.17 0 0
CUI: C4692845
Disease: BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO
BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO 		3 0 1 0.17 0 0
CUI: C1843146
Disease: Normal interictal EEG
Normal interictal EEG 		4 0 1 0.14 0 0
CUI: C1865926
Disease: Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) 		4 0 1 0.14 0 0
CUI: C0751908
Disease: Vestibular Neuronitis
Vestibular Neuronitis 		5 0 1 0.12 0 0
CUI: C1849683
Disease: No social interaction
No social interaction 		5 0 1 0.12 0 0
CUI: C1851936
Disease: Paroxysmal choreoathetosis
Paroxysmal choreoathetosis 		5 0 1 0.12 0 0
CUI: C0019816
Disease: Hereditary, Type VII, Motor and Sensory Neuropathy
Hereditary, Type VII, Motor and Sensory Neuropathy 		6 0 1 0.11 0 0
CUI: C1857483
Disease: Decreased palmar creases
Decreased palmar creases 		6 0 1 0.11 0 0
CUI: C1866753
Disease: Impaired horizontal smooth pursuit
Impaired horizontal smooth pursuit 		7 0 1 1.0E-01 0 0
CUI: C4255193
Disease: Bilateral Vestibulopathy
Bilateral Vestibulopathy 		7 0 1 1.0E-01 0 0