Source: CURATED ×
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: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0 470 0 0 2 4.2E-03
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		0 13 0 0 1 5.6E-02
CUI: C0013421
Disease: Dystonia
Dystonia 		0 61 0 0 1 1.5E-02
CUI: C0020258
Disease: Hydrocephalus, Normal Pressure
Hydrocephalus, Normal Pressure 		0 2 0 0 2 0.33
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		0 20 0 0 1 4.0E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0 579 0 0 1 1.7E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0 83 0 0 1 1.1E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0 34 0 0 2 5.3E-02
CUI: C0036572
Disease: Seizures
Seizures 		0 417 0 0 1 2.4E-03
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0 62 0 0 2 3.0E-02
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia 		0 62 0 0 1 1.5E-02
CUI: C0221166
Disease: Paraparesis
Paraparesis 		0 3 0 0 1 0.12
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0 21 0 0 1 3.8E-02
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		0 13 0 0 1 5.6E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0 49 0 0 1 1.9E-02
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0 75 0 0 1 1.3E-02
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0 175 0 0 1 5.6E-03
CUI: C0456909
Disease: Blindness
Blindness 		0 18 0 0 2 9.1E-02
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0 21 0 0 1 3.8E-02
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0 46 0 0 1 2.0E-02
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome 		0 13 0 0 1 5.6E-02
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
MOHR-TRANEBJAERG SYNDROME 		0 14 0 0 1 5.3E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0 78 0 0 1 1.2E-02
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0 50 0 0 3 5.7E-02
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		0 11 0 0 1 6.2E-02