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: C0751883
Disease: Congenital Myasthenic Syndromes, Postsynaptic
Congenital Myasthenic Syndromes, Postsynaptic 		18 0 1 2.4E-04 0 0
CUI: C0751885
Disease: Myasthenic Syndromes, Congenital, Slow Channel
Myasthenic Syndromes, Congenital, Slow Channel 		18 0 1 2.4E-04 0 0
CUI: C4022792
Disease: Reduced ejection fraction
Reduced ejection fraction 		18 0 1 2.4E-04 0 0
CUI: C4023499
Disease: Generalized clonic seizures
Generalized clonic seizures 		18 0 1 2.4E-04 0 0
CUI: C0595948
Disease: Atypical absence seizure
Atypical absence seizure 		17 0 1 2.4E-04 0 0
CUI: C0006009
Disease: Borderline intellectual disability
Borderline intellectual disability 		16 0 1 2.4E-04 0 0
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		16 0 1 2.4E-04 0 0
CUI: C1843175
Disease: Hyperreflexia in upper limbs
Hyperreflexia in upper limbs 		16 0 1 2.4E-04 0 0
CUI: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level 		16 0 1 2.4E-04 0 0
CUI: C0021603
Disease: Sleep Initiation and Maintenance Disorders
Sleep Initiation and Maintenance Disorders 		15 26 1 2.4E-04 1 8.1E-04
CUI: C0752207
Disease: Familial Dystonia
Familial Dystonia 		15 0 1 2.4E-04 0 0
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
Abnormal isoelectric focusing of serum transferrin 		15 0 1 2.4E-04 0 0
CUI: C3278322
Disease: Cerebellar dysplasia
Cerebellar dysplasia 		15 0 1 2.4E-04 0 0
CUI: C3279397
Disease: Very long chain fatty acid accumulation
Very long chain fatty acid accumulation 		15 0 1 2.4E-04 0 0
CUI: C4022849
Disease: Absent thumbnail
Absent thumbnail 		15 0 1 2.4E-04 0 0
CUI: C0152109
Disease: Juvenile Spinal Muscular Atrophy
Juvenile Spinal Muscular Atrophy 		14 0 1 2.4E-04 0 0
CUI: C0240116
Disease: Hyperactive patellar reflex
Hyperactive patellar reflex 		14 0 1 2.4E-04 0 0
CUI: C0398794
Disease: Hypopigmentation-immunodeficiency disease
Hypopigmentation-immunodeficiency disease 		14 0 1 2.4E-04 0 0
CUI: C0678909
Disease: Brain Waves
Brain Waves 		14 0 1 2.4E-04 0 0
CUI: C0685838
Disease: Gonadal dysgenesis XX type deafness
Gonadal dysgenesis XX type deafness 		14 0 1 2.4E-04 0 0
CUI: C1837262
Disease: Increased muscle lipid content
Increased muscle lipid content 		14 0 1 2.4E-04 0 0
CUI: C1843643
Disease: Nocturnal hypoventilation
Nocturnal hypoventilation 		14 0 1 2.4E-04 0 0
CUI: C1846131
Disease: Photosensitive tonic-clonic seizures
Photosensitive tonic-clonic seizures 		14 0 1 2.4E-04 0 0
CUI: C1856408
Disease: Infantile encephalopathy
Infantile encephalopathy 		14 0 1 2.4E-04 0 0
CUI: C4023484
Disease: Uni- and bilateral multifocal epileptiform discharges
Uni- and bilateral multifocal epileptiform discharges 		14 0 1 2.4E-04 0 0